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+Disease_Curie	Disease_Name	Gene_Curie	Gene_Name
+ORPHANET:166024	Multiple epiphyseal dysplasia, Al-Gazali type	ENSEMBL:ENSG00000166813	kinesin family member 7
+ORPHANET:93	Aspartylglucosaminuria	ENSEMBL:ENSG00000038002	aspartylglucosaminidase
+ORPHANET:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	ENSEMBL:ENSG00000153015	CWC27 spliceosome associated cyclophilin
+ORPHANET:585	Multiple sulfatase deficiency	ENSEMBL:ENSG00000144455	sulfatase modifying factor 1
+ORPHANET:118	Beta-mannosidosis	ENSEMBL:ENSG00000109323	mannosidase beta
+ORPHANET:166063	Pontocerebellar hypoplasia type 4	ENSEMBL:ENSG00000182173	tRNA splicing endonuclease subunit 54
+ORPHANET:166078	Von Willebrand disease type 1	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:166073	Pontocerebellar hypoplasia type 6	ENSEMBL:ENSG00000146282	arginyl-tRNA synthetase 2, mitochondrial
+ORPHANET:166084	Von Willebrand disease type 2A	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:333	Farber disease	ENSEMBL:ENSG00000104763	N-acylsphingosine amidohydrolase 1
+ORPHANET:349	Fucosidosis	ENSEMBL:ENSG00000179163	alpha-L-fucosidase 1
+ORPHANET:166090	Von Willebrand disease type 2M	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:166087	Von Willebrand disease type 2B	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	ENSEMBL:ENSG00000162688	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
+ORPHANET:166093	Von Willebrand disease type 2N	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	ENSEMBL:ENSG00000068976	glycogen phosphorylase, muscle associated
+ORPHANET:166096	Von Willebrand disease type 3	ENSEMBL:ENSG00000110799	von Willebrand factor
+ORPHANET:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	ENSEMBL:ENSG00000152556	phosphofructokinase, muscle
+ORPHANET:166105	FASTKD2-related infantile mitochondrial encephalomyopathy	ENSEMBL:ENSG00000118246	FAST kinase domains 2
+ORPHANET:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	ENSEMBL:ENSG00000100504	glycogen phosphorylase L
+ORPHANET:447	Paroxysmal nocturnal hemoglobinuria	ENSEMBL:ENSG00000165195	phosphatidylinositol glycan anchor biosynthesis class A
+ORPHANET:166108	Intellectual disability, Birk-Barel type	ENSEMBL:ENSG00000169427	potassium two pore domain channel subfamily K member 9
+ORPHANET:166119	Isolated osteopoikilosis	ENSEMBL:ENSG00000174106	LEM domain containing 3
+ORPHANET:166260	Dentinogenesis imperfecta type 2	ENSEMBL:ENSG00000152591	dentin sialophosphoprotein
+ORPHANET:166265	Dentinogenesis imperfecta type 3	ENSEMBL:ENSG00000152591	dentin sialophosphoprotein
+ORPHANET:166272	Odontochondrodysplasia	ENSEMBL:ENSG00000100815	thyroid hormone receptor interactor 11
+ORPHANET:576	Mucolipidosis type II	ENSEMBL:ENSG00000111670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
+ORPHANET:812	Sialidosis type 1	ENSEMBL:ENSG00000204386	neuraminidase 1
+ORPHANET:578	Mucolipidosis type IV	ENSEMBL:ENSG00000090674	mucolipin TRP cation channel 1
+ORPHANET:166286	Porokeratotic eccrine ostial and dermal duct nevus	ENSEMBL:ENSG00000165474	gap junction protein beta 2
+ORPHANET:584	Mucopolysaccharidosis type 7	ENSEMBL:ENSG00000169919	glucuronidase beta
+ORPHANET:825	NON RARE IN EUROPE: Ankylosing spondylitis	ENSEMBL:ENSG00000234745	major histocompatibility complex, class I, B
+ORPHANET:166412	Hot water reflex epilepsy	ENSEMBL:ENSG00000106688	solute carrier family 1 member 1
+ORPHANET:95	Friedreich ataxia	ENSEMBL:ENSG00000165060	frataxin
+ORPHANET:597	Central core disease	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	ENSEMBL:ENSG00000100146	SRY-box transcription factor 10
+ORPHANET:684	Paramyotonia congenita of Von Eulenburg	ENSEMBL:ENSG00000007314	sodium voltage-gated channel alpha subunit 4
+ORPHANET:163937	X-linked intellectual disability, Najm type	ENSEMBL:ENSG00000147044	calcium/calmodulin dependent serine protein kinase
+ORPHANET:614	Thomsen and Becker disease	ENSEMBL:ENSG00000188037	chloride voltage-gated channel 1
+ORPHANET:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	ENSEMBL:ENSG00000094631	histone deacetylase 6
+ORPHANET:163976	X-linked intellectual disability, Van Esch type	ENSEMBL:ENSG00000101868	DNA polymerase alpha 1, catalytic subunit
+ORPHANET:163956	X-linked intellectual disability, Nascimento type	ENSEMBL:ENSG00000077721	ubiquitin conjugating enzyme E2 A
+ORPHANET:324	Fabry disease	ENSEMBL:ENSG00000102393	galactosidase alpha
+ORPHANET:163985	Hyperekplexia-epilepsy syndrome	ENSEMBL:ENSG00000131089	Cdc42 guanine nucleotide exchange factor 9
+ORPHANET:778	Rett syndrome	ENSEMBL:ENSG00000169057	methyl-CpG binding protein 2
+ORPHANET:1941	Juvenile absence epilepsy	ENSEMBL:ENSG00000096093	EF-hand domain containing 1
+ORPHANET:165805	Familial mesial temporal lobe epilepsy with febrile seizures	ENSEMBL:ENSG00000165078	carboxypeptidase A6
+ORPHANET:100	Ataxia-telangiectasia	ENSEMBL:ENSG00000149311	ATM serine/threonine kinase
+ORPHANET:166011	Multiple epiphyseal dysplasia, Beighton type	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:232	Sickle cell anemia	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:534	Oculocerebrorenal syndrome of Lowe	ENSEMBL:ENSG00000122126	OCRL inositol polyphosphate-5-phosphatase
+ORPHANET:165991	Exercise-induced hyperinsulinism	ENSEMBL:ENSG00000155380	solute carrier family 16 member 1
+ORPHANET:908	Fragile X syndrome	ENSEMBL:ENSG00000102081	fragile X messenger ribonucleoprotein 1
+ORPHANET:47	X-linked agammaglobulinemia	ENSEMBL:ENSG00000010671	Bruton tyrosine kinase
+ORPHANET:905	Wilson disease	ENSEMBL:ENSG00000123191	ATPase copper transporting beta
+ORPHANET:792	X-linked retinoschisis	ENSEMBL:ENSG00000102104	retinoschisin 1
+ORPHANET:15	Achondroplasia	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:96	Ataxia with vitamin E deficiency	ENSEMBL:ENSG00000137561	alpha tocopherol transfer protein
+ORPHANET:101	Dentatorubral pallidoluysian atrophy	ENSEMBL:ENSG00000111676	atrophin 1
+ORPHANET:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	ENSEMBL:ENSG00000147168	interleukin 2 receptor subunit gamma
+ORPHANET:481	Kennedy disease	ENSEMBL:ENSG00000169083	androgen receptor
+ORPHANET:664	Ornithine transcarbamylase deficiency	ENSEMBL:ENSG00000036473	ornithine transcarbamylase
+ORPHANET:394	Classic homocystinuria	ENSEMBL:ENSG00000160200	cystathionine beta-synthase
+ORPHANET:508	Leprechaunism	ENSEMBL:ENSG00000171105	insulin receptor
+ORPHANET:429	Hypochondroplasia	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	ENSEMBL:ENSG00000198910	L1 cell adhesion molecule
+ORPHANET:163717	Benign familial mesial temporal lobe epilepsy	ENSEMBL:ENSG00000165078	carboxypeptidase A6
+ORPHANET:649	Norrie disease	ENSEMBL:ENSG00000124479	norrin cystine knot growth factor NDP
+ORPHANET:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	ENSEMBL:ENSG00000162065	TBC1 domain family member 24
+ORPHANET:163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome	ENSEMBL:ENSG00000116171	sterol carrier protein 2
+ORPHANET:163681	CNTNAP2-related developmental and epileptic encephalopathy	ENSEMBL:ENSG00000174469	contactin associated protein 2
+ORPHANET:644	NARP syndrome	ENSEMBL:ENSG00000198899	mitochondrially encoded ATP synthase membrane subunit 6
+ORPHANET:637	Full NF2-related schwannomatosis	ENSEMBL:ENSG00000186575	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
+ORPHANET:163696	Action myoclonus-renal failure syndrome	ENSEMBL:ENSG00000138760	scavenger receptor class B member 2
+ORPHANET:337	Fibrodysplasia ossificans progressiva	ENSEMBL:ENSG00000115170	activin A receptor type 1
+ORPHANET:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	ENSEMBL:ENSG00000130948	hydroxysteroid 17-beta dehydrogenase 3
+ORPHANET:510	Lesch-Nyhan syndrome	ENSEMBL:ENSG00000165704	hypoxanthine phosphoribosyltransferase 1
+ORPHANET:60	Alpha-1-antitrypsin deficiency	ENSEMBL:ENSG00000197249	serpin family A member 1
+ORPHANET:896	Waardenburg syndrome type 3	ENSEMBL:ENSG00000135903	paired box 3
+ORPHANET:894	Waardenburg syndrome type 1	ENSEMBL:ENSG00000135903	paired box 3
+ORPHANET:682	Hyperkalemic periodic paralysis	ENSEMBL:ENSG00000007314	sodium voltage-gated channel alpha subunit 4
+ORPHANET:800	Schwartz-Jampel syndrome	ENSEMBL:ENSG00000142798	heparan sulfate proteoglycan 2
+ORPHANET:628	Diastrophic dysplasia	ENSEMBL:ENSG00000155850	solute carrier family 26 member 2
+ORPHANET:2869	Peutz-Jeghers syndrome	ENSEMBL:ENSG00000118046	serine/threonine kinase 11
+ORPHANET:53	Albers-Schönberg osteopetrosis	ENSEMBL:ENSG00000103249	chloride voltage-gated channel 7
+ORPHANET:14	Abetalipoproteinemia	ENSEMBL:ENSG00000138823	microsomal triglyceride transfer protein
+ORPHANET:167	Chédiak-Higashi syndrome	ENSEMBL:ENSG00000143669	lysosomal trafficking regulator
+ORPHANET:192	Coffin-Lowry syndrome	ENSEMBL:ENSG00000177189	ribosomal protein S6 kinase A3
+ORPHANET:169808	Mild hemophilia A	ENSEMBL:ENSG00000185010	coagulation factor VIII
+ORPHANET:169802	Severe hemophilia A	ENSEMBL:ENSG00000185010	coagulation factor VIII
+ORPHANET:169805	Moderate hemophilia A	ENSEMBL:ENSG00000185010	coagulation factor VIII
+ORPHANET:562	McCune-Albright syndrome	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:565	Menkes disease	ENSEMBL:ENSG00000165240	ATPase copper transporting alpha
+ORPHANET:258	Laminin subunit alpha 2-related congenital muscular dystrophy	ENSEMBL:ENSG00000196569	laminin subunit alpha 2
+ORPHANET:169464	Primary CD59 deficiency	ENSEMBL:ENSG00000085063	CD59 molecule (CD59 blood group)
+ORPHANET:87	Apert syndrome	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:97	Familial paroxysmal ataxia	ENSEMBL:ENSG00000141837	calcium voltage-gated channel subunit alpha1 A
+ORPHANET:169467	Recurrent Neisseria infections due to factor D deficiency	ENSEMBL:ENSG00000197766	complement factor D
+ORPHANET:169799	Mild hemophilia B	ENSEMBL:ENSG00000101981	coagulation factor IX
+ORPHANET:169796	Moderate hemophilia B	ENSEMBL:ENSG00000101981	coagulation factor IX
+ORPHANET:169793	Severe hemophilia B	ENSEMBL:ENSG00000101981	coagulation factor IX
+ORPHANET:1000	Ocular albinism with late-onset sensorineural deafness	ENSEMBL:ENSG00000065000	adaptor related protein complex 3 subunit delta 1
+ORPHANET:171445	Muscle filaminopathy	ENSEMBL:ENSG00000128591	filamin C
+ORPHANET:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	ENSEMBL:ENSG00000210156	mitochondrially encoded tRNA-Lys (AAA/G)
+ORPHANET:171629	Autosomal recessive spastic paraplegia type 35	ENSEMBL:ENSG00000103089	fatty acid 2-hydroxylase
+ORPHANET:357	NON RARE IN EUROPE: Gilbert syndrome	ENSEMBL:ENSG00000241635	UDP glucuronosyltransferase family 1 member A1
+ORPHANET:1727	22q11.2 duplication syndrome	ENSEMBL:ENSG00000184058	T-box transcription factor 1
+ORPHANET:169079	Cernunnos-XLF deficiency	ENSEMBL:ENSG00000187736	non-homologous end joining factor 1
+ORPHANET:169100	Immunodeficiency due to CD25 deficiency	ENSEMBL:ENSG00000134460	interleukin 2 receptor subunit alpha
+ORPHANET:169095	Severe combined immunodeficiency due to FOXN1 deficiency	ENSEMBL:ENSG00000109101	forkhead box N1
+ORPHANET:169082	Combined immunodeficiency due to CD3gamma deficiency	ENSEMBL:ENSG00000160654	CD3 gamma subunit of T-cell receptor complex
+ORPHANET:169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation	ENSEMBL:ENSG00000153563	CD8a molecule
+ORPHANET:168829	Primary peritoneal carcinoma	ENSEMBL:ENSG00000012048	BRCA1 DNA repair associated
+ORPHANET:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	ENSEMBL:ENSG00000277893	steroid 5 alpha-reductase 2
+ORPHANET:868	Triose phosphate-isomerase deficiency	ENSEMBL:ENSG00000111669	triosephosphate isomerase 1
+ORPHANET:218	Darier disease	ENSEMBL:ENSG00000174437	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
+ORPHANET:168796	Heart-hand syndrome, Slovenian type	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	ENSEMBL:ENSG00000077782	fibroblast growth factor receptor 1
+ORPHANET:168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	ENSEMBL:ENSG00000113721	platelet derived growth factor receptor beta
+ORPHANET:168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	ENSEMBL:ENSG00000134853	platelet derived growth factor receptor alpha
+ORPHANET:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	ENSEMBL:ENSG00000168685	interleukin 7 receptor
+ORPHANET:169157	T-B+ severe combined immunodeficiency due to CD45 deficiency	ENSEMBL:ENSG00000081237	protein tyrosine phosphatase receptor type C
+ORPHANET:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	ENSEMBL:ENSG00000182372	CLN8 transmembrane ER and ERGIC protein
+ORPHANET:596	X-linked centronuclear myopathy	ENSEMBL:ENSG00000171100	myotubularin 1
+ORPHANET:464	Incontinentia pigmenti	ENSEMBL:ENSG00000269335	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
+ORPHANET:56	Alkaptonuria	ENSEMBL:ENSG00000113924	homogentisate 1,2-dioxygenase
+ORPHANET:1059	Blue rubber bleb nevus	ENSEMBL:ENSG00000120156	TEK receptor tyrosine kinase
+ORPHANET:22	Succinic semialdehyde dehydrogenase deficiency	ENSEMBL:ENSG00000112294	aldehyde dehydrogenase 5 family member A1
+ORPHANET:29	Mevalonic aciduria	ENSEMBL:ENSG00000110921	mevalonate kinase
+ORPHANET:245	Nager syndrome	ENSEMBL:ENSG00000143368	splicing factor 3b subunit 4
+ORPHANET:30	Hereditary orotic aciduria	ENSEMBL:ENSG00000114491	uridine monophosphate synthetase
+ORPHANET:915	Aarskog-Scott syndrome	ENSEMBL:ENSG00000102302	FYVE, RhoGEF and PH domain containing 1
+ORPHANET:2614	Nail-patella syndrome	ENSEMBL:ENSG00000136944	LIM homeobox transcription factor 1 beta
+ORPHANET:33	Isovaleric acidemia	ENSEMBL:ENSG00000128928	isovaleryl-CoA dehydrogenase
+ORPHANET:168615	Hereditary persistence of alpha-fetoprotein	ENSEMBL:ENSG00000081051	alpha fetoprotein
+ORPHANET:168612	Congenital deficiency in alpha-fetoprotein	ENSEMBL:ENSG00000081051	alpha fetoprotein
+ORPHANET:1452	Cleidocranial dysplasia	ENSEMBL:ENSG00000124813	RUNX family transcription factor 2
+ORPHANET:168624	Familial scaphocephaly syndrome, McGillivray type	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:193	Cohen syndrome	ENSEMBL:ENSG00000132549	vacuolar protein sorting 13 homolog B
+ORPHANET:168583	Hereditary North American Indian childhood cirrhosis	ENSEMBL:ENSG00000141076	UTP4 small subunit processome component
+ORPHANET:168577	Hereditary cryohydrocytosis with reduced stomatin	ENSEMBL:ENSG00000117394	solute carrier family 2 member 1
+ORPHANET:168593	Sudden infant death-dysgenesis of the testes syndrome	ENSEMBL:ENSG00000189241	TSPY like 1
+ORPHANET:168601	Congenital enteropathy due to enteropeptidase deficiency	ENSEMBL:ENSG00000154646	transmembrane serine protease 15
+ORPHANET:168598	Brain demyelination due to methionine adenosyltransferase deficiency	ENSEMBL:ENSG00000151224	methionine adenosyltransferase 1A
+ORPHANET:168606	Seborrhea-like dermatitis with psoriasiform elements	ENSEMBL:ENSG00000141579	zinc finger protein 750
+ORPHANET:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	ENSEMBL:ENSG00000154864	piezo type mechanosensitive ion channel component 2
+ORPHANET:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	ENSEMBL:ENSG00000140459	cytochrome P450 family 11 subfamily A member 1
+ORPHANET:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	ENSEMBL:ENSG00000139549	desert hedgehog signaling molecule
+ORPHANET:168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	ENSEMBL:ENSG00000123297	Ts translation elongation factor, mitochondrial
+ORPHANET:1310	Caffey disease	ENSEMBL:ENSG00000108821	collagen type I alpha 1 chain
+ORPHANET:168569	H syndrome	ENSEMBL:ENSG00000198246	solute carrier family 29 member 3
+ORPHANET:168572	Native American myopathy	ENSEMBL:ENSG00000185482	SH3 and cysteine rich domain 3
+ORPHANET:125	Bloom syndrome	ENSEMBL:ENSG00000197299	BLM RecQ like helicase
+ORPHANET:90	Argininemia	ENSEMBL:ENSG00000118520	arginase 1
+ORPHANET:168454	Spondyloepimetaphyseal dysplasia, Geneviève type	ENSEMBL:ENSG00000095380	N-acetylneuraminate synthase
+ORPHANET:246	Postaxial acrofacial dysostosis	ENSEMBL:ENSG00000102967	dihydroorotate dehydrogenase (quinone)
+ORPHANET:1764	Familial dysautonomia	ENSEMBL:ENSG00000070061	elongator complex protein 1
+ORPHANET:239	Dyggve-Melchior-Clausen disease	ENSEMBL:ENSG00000141627	dymeclin
+ORPHANET:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	ENSEMBL:ENSG00000177000	methylenetetrahydrofolate reductase
+ORPHANET:147	Carbamoyl-phosphate synthetase 1 deficiency	ENSEMBL:ENSG00000021826	carbamoyl-phosphate synthase 1
+ORPHANET:23	Argininosuccinic aciduria	ENSEMBL:ENSG00000126522	argininosuccinate lyase
+ORPHANET:226	Dihydropteridine reductase deficiency	ENSEMBL:ENSG00000151552	quinoid dihydropteridine reductase
+ORPHANET:1496	Corpus callosum agenesis-neuronopathy syndrome	ENSEMBL:ENSG00000140199	solute carrier family 12 member 6
+ORPHANET:2118	Hawkinsinuria	ENSEMBL:ENSG00000158104	4-hydroxyphenylpyruvate dioxygenase
+ORPHANET:351	Galactosialidosis	ENSEMBL:ENSG00000064601	cathepsin A
+ORPHANET:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	ENSEMBL:ENSG00000136143	succinate-CoA ligase ADP-forming subunit beta
+ORPHANET:1880	Ebstein malformation of the tricuspid valve	ENSEMBL:ENSG00000092054	myosin heavy chain 7
+ORPHANET:2635	Metatropic dysplasia	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:606	Proximal myotonic myopathy	ENSEMBL:ENSG00000169714	CCHC-type zinc finger nucleic acid binding protein
+ORPHANET:2785	Osteopetrosis with renal tubular acidosis	ENSEMBL:ENSG00000104267	carbonic anhydrase 2
+ORPHANET:2746	Opsismodysplasia	ENSEMBL:ENSG00000165458	inositol polyphosphate phosphatase like 1
+ORPHANET:2971	Peroxisomal acyl-CoA oxidase deficiency	ENSEMBL:ENSG00000161533	acyl-CoA oxidase 1
+ORPHANET:2970	Prune belly syndrome	ENSEMBL:ENSG00000133019	cholinergic receptor muscarinic 3
+ORPHANET:2903	Familial spontaneous pneumothorax	ENSEMBL:ENSG00000154803	folliculin
+ORPHANET:2901	Neuralgic amyotrophy	ENSEMBL:ENSG00000184640	septin 9
+ORPHANET:718	Isolated Pierre Robin syndrome	ENSEMBL:ENSG00000125398	SRY-box transcription factor 9
+ORPHANET:3071	Costello syndrome	ENSEMBL:ENSG00000174775	HRas proto-oncogene, GTPase
+ORPHANET:763	Pycnodysostosis	ENSEMBL:ENSG00000143387	cathepsin K
+ORPHANET:469	Hereditary fructose intolerance	ENSEMBL:ENSG00000136872	aldolase, fructose-bisphosphate B
+ORPHANET:2308	Jacobsen syndrome	ENSEMBL:ENSG00000151702	Fli-1 proto-oncogene, ETS transcription factor
+ORPHANET:2253	Foveal hypoplasia-presenile cataract syndrome	ENSEMBL:ENSG00000007372	paired box 6
+ORPHANET:180188	Isolated congenital breast hypoplasia/aplasia	ENSEMBL:ENSG00000142949	protein tyrosine phosphatase receptor type F
+ORPHANET:2300	Multiple intestinal atresia	ENSEMBL:ENSG00000068724	tetratricopeptide repeat domain 7A
+ORPHANET:2377	Laurence-Moon syndrome	ENSEMBL:ENSG00000032444	patatin like phospholipase domain containing 6
+ORPHANET:2466	MASA syndrome	ENSEMBL:ENSG00000198910	L1 cell adhesion molecule
+ORPHANET:560	Marshall syndrome	ENSEMBL:ENSG00000060718	collagen type XI alpha 1 chain
+ORPHANET:179494	Obesity due to leptin receptor gene deficiency	ENSEMBL:ENSG00000116678	leptin receptor
+ORPHANET:816	Sjögren-Larsson syndrome	ENSEMBL:ENSG00000072210	aldehyde dehydrogenase 3 family member A2
+ORPHANET:3205	Sturge-Weber syndrome	ENSEMBL:ENSG00000156052	G protein subunit alpha q
+ORPHANET:3320	Thrombocytopenia-absent radius syndrome	ENSEMBL:ENSG00000265241	RNA binding motif protein 8A
+ORPHANET:887	VACTERL/VATER association	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:909	Cerebrotendinous xanthomatosis	ENSEMBL:ENSG00000135929	cytochrome P450 family 27 subfamily A member 1
+ORPHANET:1422	Chondrodysplasia-disorder of sex development syndrome	ENSEMBL:ENSG00000054392	hedgehog acyltransferase
+ORPHANET:178461	X-linked myopathy with postural muscle atrophy	ENSEMBL:ENSG00000022267	four and a half LIM domains 1
+ORPHANET:178464	Hereditary myopathy with early respiratory failure	ENSEMBL:ENSG00000155657	titin
+ORPHANET:178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	ENSEMBL:ENSG00000197249	serpin family A member 1
+ORPHANET:178400	Distal myopathy with anterior tibial onset	ENSEMBL:ENSG00000135636	dysferlin
+ORPHANET:178389	Osteopetrosis-hypogammaglobulinemia syndrome	ENSEMBL:ENSG00000141655	TNF receptor superfamily member 11a
+ORPHANET:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	ENSEMBL:ENSG00000108823	sarcoglycan alpha
+ORPHANET:178364	Syndromic microphthalmia type 5	ENSEMBL:ENSG00000165588	orthodenticle homeobox 2
+ORPHANET:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	ENSEMBL:ENSG00000162337	LDL receptor related protein 5
+ORPHANET:348	Fructose-1,6-bisphosphatase deficiency	ENSEMBL:ENSG00000165140	fructose-bisphosphatase 1
+ORPHANET:178345	Aromatase excess syndrome	ENSEMBL:ENSG00000137869	cytochrome P450 family 19 subfamily A member 1
+ORPHANET:178509	Perry syndrome	ENSEMBL:ENSG00000204843	dynactin subunit 1
+ORPHANET:178506	Brain calcification, Rajab type	ENSEMBL:ENSG00000116120	phenylalanyl-tRNA synthetase subunit beta
+ORPHANET:177926	Bleeding disorder in hemophilia A carriers	ENSEMBL:ENSG00000185010	coagulation factor VIII
+ORPHANET:177929	Bleeding disorder in hemophilia B carriers	ENSEMBL:ENSG00000101981	coagulation factor IX
+ORPHANET:177907	Prader-Willi syndrome due to translocation	ENSEMBL:ENSG00000128739	small nuclear ribonucleoprotein polypeptide N
+ORPHANET:178333	Ã…land Islands eye disease	ENSEMBL:ENSG00000102001	calcium voltage-gated channel subunit alpha1 F
+ORPHANET:362	NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency	ENSEMBL:ENSG00000160211	glucose-6-phosphate dehydrogenase
+ORPHANET:760	Purine nucleoside phosphorylase deficiency	ENSEMBL:ENSG00000198805	purine nucleoside phosphorylase
+ORPHANET:270	Oculopharyngeal muscular dystrophy	ENSEMBL:ENSG00000100836	poly(A) binding protein nuclear 1
+ORPHANET:178307	Reticulate acropigmentation of Kitamura	ENSEMBL:ENSG00000137845	ADAM metallopeptidase domain 10
+ORPHANET:178145	Moderate multiminicore disease with hand involvement	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	ENSEMBL:ENSG00000102144	phosphoglycerate kinase 1
+ORPHANET:57	Glycogen storage disease due to aldolase A deficiency	ENSEMBL:ENSG00000149925	aldolase, fructose-bisphosphate A
+ORPHANET:2334	Autosomal dominant keratitis	ENSEMBL:ENSG00000007372	paired box 6
+ORPHANET:46	Adenylosuccinate lyase deficiency	ENSEMBL:ENSG00000239900	adenylosuccinate lyase
+ORPHANET:3166	Sialuria	ENSEMBL:ENSG00000159921	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
+ORPHANET:134	Beta-ketothiolase deficiency	ENSEMBL:ENSG00000075239	acetyl-CoA acetyltransferase 1
+ORPHANET:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	ENSEMBL:ENSG00000187742	SECIS binding protein 2
+ORPHANET:171680	Lissencephaly due to TUBA1A mutation	ENSEMBL:ENSG00000167552	tubulin alpha 1a
+ORPHANET:171690	Metabolic myopathy due to lactate transporter defect	ENSEMBL:ENSG00000155380	solute carrier family 16 member 1
+ORPHANET:171863	Autosomal dominant spastic paraplegia type 42	ENSEMBL:ENSG00000169359	solute carrier family 33 member 1
+ORPHANET:171871	Renal pseudohypoaldosteronism type 1	ENSEMBL:ENSG00000151623	nuclear receptor subfamily 3 group C member 2
+ORPHANET:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	ENSEMBL:ENSG00000157766	aggrecan
+ORPHANET:171829	6q16 microdeletion syndrome	ENSEMBL:ENSG00000112246	SIM bHLH transcription factor 1
+ORPHANET:171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	ENSEMBL:ENSG00000100997	abhydrolase domain containing 12, lysophospholipase
+ORPHANET:200418	Immunodeficiency with factor I anomaly	ENSEMBL:ENSG00000205403	complement factor I
+ORPHANET:200421	Immunodeficiency with factor H anomaly	ENSEMBL:ENSG00000000971	complement factor H
+ORPHANET:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	ENSEMBL:ENSG00000151835	sacsin molecular chaperone
+ORPHANET:330	Congenital factor XII deficiency	ENSEMBL:ENSG00000131187	coagulation factor XII
+ORPHANET:199340	Muscular dystrophy, Selcen type	ENSEMBL:ENSG00000151929	BAG cochaperone 3
+ORPHANET:199337	Pancreatic insufficiency-anemia-hyperostosis syndrome	ENSEMBL:ENSG00000131055	cytochrome c oxidase subunit 4I2
+ORPHANET:234	Dubin-Johnson syndrome	ENSEMBL:ENSG00000023839	ATP binding cassette subfamily C member 2
+ORPHANET:199348	Thiamine-responsive encephalopathy	ENSEMBL:ENSG00000135917	solute carrier family 19 member 3
+ORPHANET:199343	EAST syndrome	ENSEMBL:ENSG00000177807	potassium inwardly rectifying channel subfamily J member 10
+ORPHANET:199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type	ENSEMBL:ENSG00000111262	potassium voltage-gated channel subfamily A member 1
+ORPHANET:199332	Endocrine-cerebro-osteodysplasia syndrome	ENSEMBL:ENSG00000112144	ciliogenesis associated kinase 1
+ORPHANET:199329	Congenital myopathy, Paradas type	ENSEMBL:ENSG00000135636	dysferlin
+ORPHANET:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	ENSEMBL:ENSG00000166033	HtrA serine peptidase 1
+ORPHANET:199351	Adult-onset dystonia-parkinsonism	ENSEMBL:ENSG00000184381	phospholipase A2 group VI
+ORPHANET:356	Gerstmann-Straussler-Scheinker syndrome	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:466	Fatal familial insomnia	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:3452	Whipple disease	ENSEMBL:ENSG00000137265	interferon regulatory factor 4
+ORPHANET:199285	Hereditary hypercarotenemia and vitamin A deficiency	ENSEMBL:ENSG00000135697	beta-carotene oxygenase 1
+ORPHANET:2102	GTP cyclohydrolase I deficiency	ENSEMBL:ENSG00000131979	GTP cyclohydrolase 1
+ORPHANET:3002	Immune thrombocytopenia	ENSEMBL:ENSG00000244682	Fc gamma receptor IIc (gene/pseudogene)
+ORPHANET:199318	15q13.3 microdeletion syndrome	ENSEMBL:ENSG00000175344	cholinergic receptor nicotinic alpha 7 subunit
+ORPHANET:1195	Congenital atransferrinemia	ENSEMBL:ENSG00000091513	transferrin
+ORPHANET:926	Acatalasemia	ENSEMBL:ENSG00000121691	catalase
+ORPHANET:199296	Congenital isolated ACTH deficiency	ENSEMBL:ENSG00000143178	T-box transcription factor 19
+ORPHANET:1675	Dihydropyrimidine dehydrogenase deficiency	ENSEMBL:ENSG00000188641	dihydropyrimidine dehydrogenase
+ORPHANET:976	Adenine phosphoribosyltransferase deficiency	ENSEMBL:ENSG00000198931	adenine phosphoribosyltransferase
+ORPHANET:3129	Sarcosinemia	ENSEMBL:ENSG00000123453	sarcosine dehydrogenase
+ORPHANET:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	ENSEMBL:ENSG00000102743	solute carrier family 25 member 15
+ORPHANET:13	6-pyruvoyl-tetrahydropterin synthase deficiency	ENSEMBL:ENSG00000150787	6-pyruvoyltetrahydropterin synthase
+ORPHANET:199247	Corticosteroid-binding globulin deficiency	ENSEMBL:ENSG00000170099	serpin family A member 6
+ORPHANET:199241	Pulmonary capillary hemangiomatosis	ENSEMBL:ENSG00000128829	eukaryotic translation initiation factor 2 alpha kinase 4
+ORPHANET:17	Fatal infantile lactic acidosis with methylmalonic aciduria	ENSEMBL:ENSG00000163541	succinate-CoA ligase GDP/ADP-forming subunit alpha
+ORPHANET:267	Calpain-3-related limb-girdle muscular dystrophy R1	ENSEMBL:ENSG00000092529	calpain 3
+ORPHANET:1136	Arnold-Chiari malformation type II	ENSEMBL:ENSG00000010361	fuzzy planar cell polarity protein
+ORPHANET:2398	Multiple symmetric lipomatosis	ENSEMBL:ENSG00000116688	mitofusin 2
+ORPHANET:2587	Myeloperoxidase deficiency	ENSEMBL:ENSG00000005381	myeloperoxidase
+ORPHANET:3389	Tuberculosis	ENSEMBL:ENSG00000018280	solute carrier family 11 member 1
+ORPHANET:2897	Pityriasis rubra pilaris	ENSEMBL:ENSG00000141527	caspase recruitment domain family member 14
+ORPHANET:2312	Transient familial neonatal hyperbilirubinemia	ENSEMBL:ENSG00000241635	UDP glucuronosyltransferase family 1 member A1
+ORPHANET:183707	Neutrophil immunodeficiency syndrome	ENSEMBL:ENSG00000128340	Rac family small GTPase 2
+ORPHANET:2314	Autosomal dominant hyper-IgE syndrome	ENSEMBL:ENSG00000168610	signal transducer and activator of transcription 3
+ORPHANET:183678	Hermansky-Pudlak syndrome due to AP-3 deficiency	ENSEMBL:ENSG00000132842	adaptor related protein complex 3 subunit beta 1
+ORPHANET:2177	Hydranencephaly	ENSEMBL:ENSG00000072864	nudE neurodevelopment protein 1
+ORPHANET:183713	Bacterial susceptibility due to TLR signaling pathway deficiency	ENSEMBL:ENSG00000172936	MYD88 innate immune signal transduction adaptor
+ORPHANET:2380	Legg-Calvé-Perthes disease	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:643	Giant axonal neuropathy	ENSEMBL:ENSG00000261609	gigaxonin
+ORPHANET:634	Netherton syndrome	ENSEMBL:ENSG00000133710	serine peptidase inhibitor Kazal type 5
+ORPHANET:140	Campomelic dysplasia	ENSEMBL:ENSG00000125398	SRY-box transcription factor 9
+ORPHANET:642	Hereditary sensory and autonomic neuropathy type 4	ENSEMBL:ENSG00000198400	neurotrophic receptor tyrosine kinase 1
+ORPHANET:627	Nance-Horan syndrome	ENSEMBL:ENSG00000188158	NHS actin remodeling regulator
+ORPHANET:326	Congenital factor V deficiency	ENSEMBL:ENSG00000198734	coagulation factor V
+ORPHANET:342	Familial Mediterranean fever	ENSEMBL:ENSG00000103313	MEFV innate immuity regulator, pyrin
+ORPHANET:180	Choroideremia	ENSEMBL:ENSG00000188419	CHM Rab escort protein
+ORPHANET:327	Congenital factor VII deficiency	ENSEMBL:ENSG00000057593	coagulation factor VII
+ORPHANET:847	Alpha-thalassemia-X-linked intellectual disability syndrome	ENSEMBL:ENSG00000085224	ATRX chromatin remodeler
+ORPHANET:392	Holt-Oram syndrome	ENSEMBL:ENSG00000089225	T-box transcription factor 5
+ORPHANET:86	Familial abdominal aortic aneurysm	ENSEMBL:ENSG00000168542	collagen type III alpha 1 chain
+ORPHANET:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	ENSEMBL:ENSG00000074181	notch receptor 3
+ORPHANET:275	Severe combined immunodeficiency due to DCLRE1C deficiency	ENSEMBL:ENSG00000152457	DNA cross-link repair 1C
+ORPHANET:184	Cherubism	ENSEMBL:ENSG00000087266	SH3 domain binding protein 2
+ORPHANET:71	Chylomicron retention disease	ENSEMBL:ENSG00000152700	secretion associated Ras related GTPase 1B
+ORPHANET:189	Hidrotic ectodermal dysplasia	ENSEMBL:ENSG00000121742	gap junction protein beta 6
+ORPHANET:1473	Uveal coloboma-cleft lip and palate-intellectual disability	ENSEMBL:ENSG00000137693	Yes1 associated transcriptional regulator
+ORPHANET:182050	MYH9-related disease	ENSEMBL:ENSG00000100345	myosin heavy chain 9
+ORPHANET:3103	Roberts syndrome	ENSEMBL:ENSG00000171320	establishment of sister chromatid cohesion N-acetyltransferase 2
+ORPHANET:709	Peters plus syndrome	ENSEMBL:ENSG00000187676	beta 3-glucosyltransferase
+ORPHANET:907	NON RARE IN EUROPE: Wolff-Parkinson-White syndrome	ENSEMBL:ENSG00000106617	protein kinase AMP-activated non-catalytic subunit gamma 2
+ORPHANET:902	Werner syndrome	ENSEMBL:ENSG00000165392	WRN RecQ like helicase
+ORPHANET:1587	Monosomy 13q14	ENSEMBL:ENSG00000139687	RB transcriptional corepressor 1
+ORPHANET:240	Léri-Weill dyschondrosteosis	ENSEMBL:ENSG00000185960	short stature homeobox
+ORPHANET:111	Barth syndrome	ENSEMBL:ENSG00000102125	tafazzin, phospholipid-lysophospholipid transacylase
+ORPHANET:1308	C syndrome	ENSEMBL:ENSG00000153283	CD96 molecule
+ORPHANET:150	Nasopharyngeal carcinoma	ENSEMBL:ENSG00000100906	NFKB inhibitor alpha
+ORPHANET:133	Chronic beryllium disease	ENSEMBL:ENSG00000223865	major histocompatibility complex, class II, DP beta 1
+ORPHANET:1552	Currarino syndrome	ENSEMBL:ENSG00000130675	motor neuron and pancreas homeobox 1
+ORPHANET:624	Familial multiple nevi flammei	ENSEMBL:ENSG00000156052	G protein subunit alpha q
+ORPHANET:3000	Familial male-limited precocious puberty	ENSEMBL:ENSG00000138039	luteinizing hormone/choriogonadotropin receptor
+ORPHANET:920	Ablepharon macrostomia syndrome	ENSEMBL:ENSG00000233608	twist family bHLH transcription factor 2
+ORPHANET:931	Acheiropodia	ENSEMBL:ENSG00000105983	limb development membrane protein 1
+ORPHANET:2297	Insulin-resistance syndrome type A	ENSEMBL:ENSG00000171105	insulin receptor
+ORPHANET:921	Abruzzo-Erickson syndrome	ENSEMBL:ENSG00000122145	T-box transcription factor 22
+ORPHANET:31	Oxoglutaric aciduria	ENSEMBL:ENSG00000105953	oxoglutarate dehydrogenase
+ORPHANET:37	Acrodermatitis enteropathica	ENSEMBL:ENSG00000147804	solute carrier family 39 member 4
+ORPHANET:955	Hajdu-Cheney syndrome	ENSEMBL:ENSG00000134250	notch receptor 2
+ORPHANET:1713	17p11.2 microduplication syndrome	ENSEMBL:ENSG00000108557	retinoic acid induced 1
+ORPHANET:1762	Proximal Xq28 duplication syndrome	ENSEMBL:ENSG00000169057	methyl-CpG binding protein 2
+ORPHANET:1878	TRIM32-related limb-girdle muscular dystrophy R8	ENSEMBL:ENSG00000119401	tripartite motif containing 32
+ORPHANET:2604	Familial visceral myopathy	ENSEMBL:ENSG00000163017	actin gamma 2, smooth muscle
+ORPHANET:156	Carnitine palmitoyl transferase 1A deficiency	ENSEMBL:ENSG00000110090	carnitine palmitoyltransferase 1A
+ORPHANET:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	ENSEMBL:ENSG00000073282	tumor protein p63
+ORPHANET:1053	Vein of Galen aneurysmal malformation	ENSEMBL:ENSG00000196411	EPH receptor B4
+ORPHANET:1106	Microphthalmia with limb anomalies	ENSEMBL:ENSG00000198732	SPARC related modular calcium binding 1
+ORPHANET:978	ADULT syndrome	ENSEMBL:ENSG00000073282	tumor protein p63
+ORPHANET:983	Testicular regression syndrome	ENSEMBL:ENSG00000150990	DEAH-box helicase 37
+ORPHANET:40	Acromesomelic dysplasia, Maroteaux type	ENSEMBL:ENSG00000159899	natriuretic peptide receptor 2
+ORPHANET:972	Hereditary continuous muscle fiber activity	ENSEMBL:ENSG00000111262	potassium voltage-gated channel subfamily A member 1
+ORPHANET:959	Acro-renal-ocular syndrome	ENSEMBL:ENSG00000101115	spalt like transcription factor 4
+ORPHANET:968	Acromesomelic dysplasia, Hunter-Thompson type	ENSEMBL:ENSG00000125965	growth differentiation factor 5
+ORPHANET:1031	Enamel-renal syndrome	ENSEMBL:ENSG00000108950	FAM20A golgi associated secretory pathway pseudokinase
+ORPHANET:64	Alström syndrome	ENSEMBL:ENSG00000116127	ALMS1 centrosome and basal body associated protein
+ORPHANET:139396	X-linked cerebral adrenoleukodystrophy	ENSEMBL:ENSG00000101986	ATP binding cassette subfamily D member 1
+ORPHANET:139399	Adrenomyeloneuropathy	ENSEMBL:ENSG00000101986	ATP binding cassette subfamily D member 1
+ORPHANET:139406	Encephalopathy due to prosaposin deficiency	ENSEMBL:ENSG00000197746	prosaposin
+ORPHANET:701	Alopecia universalis	ENSEMBL:ENSG00000168453	HR lysine demethylase and nuclear receptor corepressor
+ORPHANET:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	ENSEMBL:ENSG00000152661	gap junction protein alpha 1
+ORPHANET:1001	2q37 microdeletion syndrome	ENSEMBL:ENSG00000068024	histone deacetylase 4
+ORPHANET:59	Allan-Herndon-Dudley syndrome	ENSEMBL:ENSG00000147100	solute carrier family 16 member 2
+ORPHANET:127	Borjeson-Forssman-Lehmann syndrome	ENSEMBL:ENSG00000156531	PHD finger protein 6
+ORPHANET:1263	Boomerang dysplasia	ENSEMBL:ENSG00000136068	filamin B
+ORPHANET:1234	Bartsocas-Papas syndrome	ENSEMBL:ENSG00000183421	receptor interacting serine/threonine kinase 4
+ORPHANET:1231	Barber-Say syndrome	ENSEMBL:ENSG00000233608	twist family bHLH transcription factor 2
+ORPHANET:1229	Congenital intrauterine infection-like syndrome	ENSEMBL:ENSG00000197822	occludin
+ORPHANET:109	Bannayan-Riley-Ruvalcaba syndrome	ENSEMBL:ENSG00000171862	phosphatase and tensin homolog
+ORPHANET:115	Congenital contractural arachnodactyly	ENSEMBL:ENSG00000138829	fibrillin 2
+ORPHANET:137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	ENSEMBL:ENSG00000104812	glycogen synthase 1
+ORPHANET:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	ENSEMBL:ENSG00000171862	phosphatase and tensin homolog
+ORPHANET:1299	Branchioskeletogenital syndrome	ENSEMBL:ENSG00000140937	cadherin 11
+ORPHANET:1300	Autosomal dominant popliteal pterygium syndrome	ENSEMBL:ENSG00000117595	interferon regulatory factor 6
+ORPHANET:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	ENSEMBL:ENSG00000181481	ring finger protein 135
+ORPHANET:1297	Branchio-oculo-facial syndrome	ENSEMBL:ENSG00000137203	transcription factor AP-2 alpha
+ORPHANET:137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	ENSEMBL:ENSG00000148606	RNA polymerase III subunit A
+ORPHANET:1276	Brachydactyly-arterial hypertension syndrome	ENSEMBL:ENSG00000172572	phosphodiesterase 3A
+ORPHANET:1270	Bowen-Conradi syndrome	ENSEMBL:ENSG00000126749	EMG1 N1-specific pseudouridine methyltransferase
+ORPHANET:137605	Legius syndrome	ENSEMBL:ENSG00000166068	sprouty related EVH1 domain containing 1
+ORPHANET:1168	Ataxia-oculomotor apraxia type 1	ENSEMBL:ENSG00000137074	aprataxin
+ORPHANET:137834	Frank-Ter Haar syndrome	ENSEMBL:ENSG00000174705	SH3 and PX domains 2B
+ORPHANET:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	ENSEMBL:ENSG00000079482	oligophrenin 1
+ORPHANET:1170	Autosomal recessive cerebelloparenchymal disorder type 3	ENSEMBL:ENSG00000165688	peptidase, mitochondrial processing subunit alpha
+ORPHANET:1175	X-linked progressive cerebellar ataxia	ENSEMBL:ENSG00000169562	gap junction protein beta 1
+ORPHANET:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	ENSEMBL:ENSG00000032444	patatin like phospholipase domain containing 6
+ORPHANET:137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	ENSEMBL:ENSG00000168827	G elongation factor mitochondrial 1
+ORPHANET:137675	Histiocytoid cardiomyopathy	ENSEMBL:ENSG00000198727	mitochondrially encoded cytochrome b
+ORPHANET:137678	Spondyloepiphyseal dysplasia with metatarsal shortening	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:137754	Neurological conditions associated with aminoacylase 1 deficiency	ENSEMBL:ENSG00000243989	aminoacylase 1
+ORPHANET:1145	Infantile-onset X-linked spinal muscular atrophy	ENSEMBL:ENSG00000130985	ubiquitin like modifier activating enzyme 1
+ORPHANET:137776	Lethal congenital contracture syndrome type 2	ENSEMBL:ENSG00000065361	erb-b2 receptor tyrosine kinase 3
+ORPHANET:1149	Kuskokwim syndrome	ENSEMBL:ENSG00000141756	FKBP prolyl isomerase 10
+ORPHANET:1159	Progressive pseudorheumatoid arthropathy of childhood	ENSEMBL:ENSG00000112761	cellular communication network factor 6
+ORPHANET:1215	Autosomal dominant optic atrophy plus syndrome	ENSEMBL:ENSG00000198836	OPA1 mitochondrial dynamin like GTPase
+ORPHANET:1216	Autosomal dominant congenital benign spinal muscular atrophy	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:1225	Baller-Gerold syndrome	ENSEMBL:ENSG00000160957	RecQ like helicase 4
+ORPHANET:1226	Bamforth-Lazarus syndrome	ENSEMBL:ENSG00000178919	forkhead box E1
+ORPHANET:1186	Infantile-onset spinocerebellar ataxia	ENSEMBL:ENSG00000107815	twinkle mtDNA helicase
+ORPHANET:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	ENSEMBL:ENSG00000117593	aspartyl-tRNA synthetase 2, mitochondrial
+ORPHANET:137902	Isolated optic nerve hypoplasia/aplasia	ENSEMBL:ENSG00000007372	paired box 6
+ORPHANET:1187	Lethal ataxia with deafness and optic atrophy	ENSEMBL:ENSG00000147224	phosphoribosyl pyrophosphate synthetase 1
+ORPHANET:1190	Atelosteogenesis type I	ENSEMBL:ENSG00000136068	filamin B
+ORPHANET:137908	Hypotonia with lactic acidemia and hyperammonemia	ENSEMBL:ENSG00000175110	mitochondrial ribosomal protein S22
+ORPHANET:141258	Tessier number 4 facial cleft	ENSEMBL:ENSG00000100014	sperm antigen with calponin homology and coiled-coil domains 1 like
+ORPHANET:1458	CODAS syndrome	ENSEMBL:ENSG00000196365	lon peptidase 1, mitochondrial
+ORPHANET:190	Coats disease	ENSEMBL:ENSG00000124479	norrin cystine knot growth factor NDP
+ORPHANET:1426	Greenberg dysplasia	ENSEMBL:ENSG00000143815	lamin B receptor
+ORPHANET:1427	Otospondylomegaepiphyseal dysplasia	ENSEMBL:ENSG00000204248	collagen type XI alpha 2 chain
+ORPHANET:1435	Xq21 microdeletion syndrome	ENSEMBL:ENSG00000196767	POU class 3 homeobox 4
+ORPHANET:1490	Corneal dystrophy-perceptive deafness syndrome	ENSEMBL:ENSG00000088836	solute carrier family 4 member 11
+ORPHANET:1486	Lethal congenital contracture syndrome type 1	ENSEMBL:ENSG00000119392	GLE1 RNA export mediator
+ORPHANET:1412	Tarsal-carpal coalition syndrome	ENSEMBL:ENSG00000183691	noggin
+ORPHANET:1394	Cerebrofaciothoracic dysplasia	ENSEMBL:ENSG00000143183	transmembrane and coiled-coil domains 1
+ORPHANET:1401	CHAND syndrome	ENSEMBL:ENSG00000183421	receptor interacting serine/threonine kinase 4
+ORPHANET:141074	External auditory canal aplasia/hypoplasia	ENSEMBL:ENSG00000179981	teashirt zinc finger homeobox 1
+ORPHANET:174	Metaphyseal chondrodysplasia, Schmid type	ENSEMBL:ENSG00000123500	collagen type X alpha 1 chain
+ORPHANET:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	ENSEMBL:ENSG00000132031	matrilin 3
+ORPHANET:163	Hereditary hyperferritinemia-cataract syndrome	ENSEMBL:ENSG00000087086	ferritin light chain
+ORPHANET:1393	Cerebrocostomandibular syndrome	ENSEMBL:ENSG00000125835	small nuclear ribonucleoprotein polypeptides B and B1
+ORPHANET:157798	Serrated polyposis syndrome	ENSEMBL:ENSG00000108375	ring finger protein 43
+ORPHANET:1388	Catel-Manzke syndrome	ENSEMBL:ENSG00000088451	TDP-glucose 4,6-dehydratase
+ORPHANET:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	ENSEMBL:ENSG00000205899	basic helix-loop-helix family member a9
+ORPHANET:1328	Camurati-Engelmann disease	ENSEMBL:ENSG00000105329	transforming growth factor beta 1
+ORPHANET:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	ENSEMBL:ENSG00000143951	WD repeat containing planar cell polarity effector
+ORPHANET:1777	Temtamy syndrome	ENSEMBL:ENSG00000111678	chromosome 12 open reading frame 57
+ORPHANET:1772	45,X/46,XY mixed gonadal dysgenesis	ENSEMBL:ENSG00000184895	sex determining region Y
+ORPHANET:1788	Acrofacial dysostosis, Rodríguez type	ENSEMBL:ENSG00000143368	splicing factor 3b subunit 4
+ORPHANET:859	Transcobalamin deficiency	ENSEMBL:ENSG00000185339	transcobalamin 2
+ORPHANET:139447	Progressive cavitating leukoencephalopathy	ENSEMBL:ENSG00000178127	NADH:ubiquinone oxidoreductase core subunit V2
+ORPHANET:1573	Hypotrichosis with juvenile macular degeneration	ENSEMBL:ENSG00000062038	cadherin 3
+ORPHANET:726	Alpers-Huttenlocher syndrome	ENSEMBL:ENSG00000140521	DNA polymerase gamma, catalytic subunit
+ORPHANET:139455	Autosomal recessive bestrophinopathy	ENSEMBL:ENSG00000167995	bestrophin 1
+ORPHANET:139466	SERKAL syndrome	ENSEMBL:ENSG00000162552	Wnt family member 4
+ORPHANET:1596	Distal monosomy 15q	ENSEMBL:ENSG00000140563	multiple C2 and transmembrane domain containing 2
+ORPHANET:139471	Microphthalmia with brain and digit anomalies	ENSEMBL:ENSG00000125378	bone morphogenetic protein 4
+ORPHANET:139474	17q11.2 microduplication syndrome	ENSEMBL:ENSG00000196712	neurofibromin 1
+ORPHANET:1617	2q24 microdeletion syndrome	ENSEMBL:ENSG00000136535	T-box brain transcription factor 1
+ORPHANET:139480	Autosomal recessive spastic paraplegia type 39	ENSEMBL:ENSG00000032444	patatin like phospholipase domain containing 6
+ORPHANET:139485	Autosomal recessive ataxia due to ubiquinone deficiency	ENSEMBL:ENSG00000163050	coenzyme Q8A
+ORPHANET:139498	NON RARE IN EUROPE: Hemochromatosis type 1	ENSEMBL:ENSG00000010704	homeostatic iron regulator
+ORPHANET:139515	Charcot-Marie-Tooth disease type 4J	ENSEMBL:ENSG00000112367	FIG4 phosphoinositide 5-phosphatase
+ORPHANET:139512	Neuropathy with hearing impairment	ENSEMBL:ENSG00000188910	gap junction protein beta 3
+ORPHANET:1658	Absence of fingerprints-congenital milia syndrome	ENSEMBL:ENSG00000163104	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
+ORPHANET:139557	X-linked distal spinal muscular atrophy type 3	ENSEMBL:ENSG00000165240	ATPase copper transporting alpha
+ORPHANET:139552	Distal hereditary motor neuropathy, Jerash type	ENSEMBL:ENSG00000147955	sigma non-opioid intracellular receptor 1
+ORPHANET:139583	X-linked hereditary sensory and autonomic neuropathy with deafness	ENSEMBL:ENSG00000156709	apoptosis inducing factor mitochondria associated 1
+ORPHANET:1667	Wolcott-Rallison syndrome	ENSEMBL:ENSG00000172071	eukaryotic translation initiation factor 2 alpha kinase 3
+ORPHANET:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	ENSEMBL:ENSG00000150753	chaperonin containing TCP1 subunit 5
+ORPHANET:140917	Stapes ankylosis with broad thumbs and toes	ENSEMBL:ENSG00000183691	noggin
+ORPHANET:140922	Titin-related limb-girdle muscular dystrophy R10	ENSEMBL:ENSG00000155657	titin
+ORPHANET:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	ENSEMBL:ENSG00000166035	lipase C, hepatic type
+ORPHANET:1540	Jackson-Weiss syndrome	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:140908	Brachydactyly type B2	ENSEMBL:ENSG00000183691	noggin
+ORPHANET:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	ENSEMBL:ENSG00000262919	cyclin Q
+ORPHANET:140944	CLOVES syndrome	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:140941	Short stature due to primary acid-labile subunit deficiency	ENSEMBL:ENSG00000099769	insulin like growth factor binding protein acid labile subunit
+ORPHANET:1553	Curry-Jones syndrome	ENSEMBL:ENSG00000128602	smoothened, frizzled class receptor
+ORPHANET:140976	RHYNS syndrome	ENSEMBL:ENSG00000164953	transmembrane protein 67
+ORPHANET:140966	Palmoplantar keratoderma, Nagashima type	ENSEMBL:ENSG00000166396	serpin family B member 7
+ORPHANET:140963	Bilateral microtia-deafness-cleft palate syndrome	ENSEMBL:ENSG00000105996	homeobox A2
+ORPHANET:382	Guanidinoacetate methyltransferase deficiency	ENSEMBL:ENSG00000130005	guanidinoacetate N-methyltransferase
+ORPHANET:742	Prolidase deficiency	ENSEMBL:ENSG00000124299	peptidase D
+ORPHANET:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	ENSEMBL:ENSG00000182287	adaptor related protein complex 1 subunit sigma 2
+ORPHANET:1497	X-linked complicated corpus callosum dysgenesis	ENSEMBL:ENSG00000198910	L1 cell adhesion molecule
+ORPHANET:140436	Primary intraosseous venous malformation	ENSEMBL:ENSG00000062598	engulfment and cell motility 2
+ORPHANET:1493	Vici syndrome	ENSEMBL:ENSG00000152223	ectopic P-granules 5 autophagy tethering factor
+ORPHANET:1509	Coxopodopatellar syndrome	ENSEMBL:ENSG00000121075	T-box transcription factor 4
+ORPHANET:1519	SPECC1L-related hypertelorism syndrome	ENSEMBL:ENSG00000100014	sperm antigen with calponin homology and coiled-coil domains 1 like
+ORPHANET:1520	Craniofrontonasal dysplasia	ENSEMBL:ENSG00000090776	ephrin B1
+ORPHANET:1513	Craniodiaphyseal dysplasia	ENSEMBL:ENSG00000167941	sclerostin
+ORPHANET:140481	Autosomal dominant slowed nerve conduction velocity	ENSEMBL:ENSG00000104728	Rho guanine nucleotide exchange factor 10
+ORPHANET:1529	Craniofacial-deafness-hand syndrome	ENSEMBL:ENSG00000135903	paired box 3
+ORPHANET:1525	Cranio-osteoarthropathy	ENSEMBL:ENSG00000164120	15-hydroxyprostaglandin dehydrogenase
+ORPHANET:1824	Lowry-Wood syndrome	ENSEMBL:ENSG00000264229	RNA, U4atac small nuclear (U12-dependent splicing)
+ORPHANET:1955	Spinocerebellar ataxia type 34	ENSEMBL:ENSG00000118402	ELOVL fatty acid elongase 4
+ORPHANET:2209	Maternal phenylketonuria	ENSEMBL:ENSG00000171759	phenylalanine hydroxylase
+ORPHANET:1896	EEC syndrome	ENSEMBL:ENSG00000073282	tumor protein p63
+ORPHANET:1897	EEM syndrome	ENSEMBL:ENSG00000062038	cadherin 3
+ORPHANET:1807	Focal facial dermal dysplasia type III	ENSEMBL:ENSG00000233608	twist family bHLH transcription factor 2
+ORPHANET:1873	Jalili syndrome	ENSEMBL:ENSG00000158158	cyclin and CBS domain divalent metal cation transport mediator 4
+ORPHANET:1879	Melorheostosis with osteopoikilosis	ENSEMBL:ENSG00000174106	LEM domain containing 3
+ORPHANET:1860	Thanatophoric dysplasia type 1	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:1865	Dyssegmental dysplasia, Silverman-Handmaker type	ENSEMBL:ENSG00000142798	heparan sulfate proteoglycan 2
+ORPHANET:1830	Schimke immuno-osseous dysplasia	ENSEMBL:ENSG00000138375	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
+ORPHANET:1802	Ghosal hematodiaphyseal dysplasia	ENSEMBL:ENSG00000059377	thromboxane A synthase 1
+ORPHANET:2143	Donnai-Barrow syndrome	ENSEMBL:ENSG00000081479	LDL receptor related protein 2
+ORPHANET:2148	Lissencephaly type 1 due to doublecortin gene mutation	ENSEMBL:ENSG00000077279	doublecortin
+ORPHANET:2114	Hip dysplasia, Beukes type	ENSEMBL:ENSG00000109775	UFM1 specific peptidase 2
+ORPHANET:2117	Hartsfield syndrome	ENSEMBL:ENSG00000077782	fibroblast growth factor receptor 1
+ORPHANET:376	Gordon syndrome	ENSEMBL:ENSG00000154864	piezo type mechanosensitive ion channel component 2
+ORPHANET:2092	Focal dermal hypoplasia	ENSEMBL:ENSG00000102312	porcupine O-acyltransferase
+ORPHANET:380	Greig cephalopolysyndactyly syndrome	ENSEMBL:ENSG00000106571	GLI family zinc finger 3
+ORPHANET:2095	Gorlin-Chaudhry-Moss syndrome	ENSEMBL:ENSG00000085491	solute carrier family 25 member 24
+ORPHANET:158029	Sea-blue histiocytosis	ENSEMBL:ENSG00000130203	apolipoprotein E
+ORPHANET:157846	Neuroferritinopathy	ENSEMBL:ENSG00000087086	ferritin light chain
+ORPHANET:2067	GAPO syndrome	ENSEMBL:ENSG00000169604	ANTXR cell adhesion molecule 1
+ORPHANET:157941	Huntington disease-like 1	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	ENSEMBL:ENSG00000177628	glucosylceramidase beta 1
+ORPHANET:157954	ANE syndrome	ENSEMBL:ENSG00000106344	RNA binding motif protein 28
+ORPHANET:157962	Oculoauricular syndrome, Schorderet type	ENSEMBL:ENSG00000215612	H6 family homeobox 1
+ORPHANET:157973	Congenital muscular dystrophy due to LMNA mutation	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	ENSEMBL:ENSG00000166147	fibrillin 1
+ORPHANET:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	ENSEMBL:ENSG00000165915	solute carrier family 39 member 13
+ORPHANET:2059	Fryns syndrome	ENSEMBL:ENSG00000197563	phosphatidylinositol glycan anchor biosynthesis class N
+ORPHANET:2026	Gingival fibromatosis-hypertrichosis syndrome	ENSEMBL:ENSG00000154265	ATP binding cassette subfamily A member 5
+ORPHANET:2028	Juvenile hyaline fibromatosis	ENSEMBL:ENSG00000163297	ANTXR cell adhesion molecule 2
+ORPHANET:2044	Floating-Harbor syndrome	ENSEMBL:ENSG00000080603	Snf2 related CREBBP activator protein
+ORPHANET:2036	Scalp-ear-nipple syndrome	ENSEMBL:ENSG00000134504	potassium channel tetramerization domain containing 1
+ORPHANET:158769	Plaque-form urticaria pigmentosa	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:158766	Typical urticaria pigmentosa	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:158681	Epidermolysis bullosa simplex with circinate migratory erythema	ENSEMBL:ENSG00000186081	keratin 5
+ORPHANET:158676	Localized dystrophic epidermolysis bullosa, nails only	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:158673	Localized dystrophic epidermolysis bullosa, acral form	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:158668	Ectodermal dysplasia-skin fragility syndrome	ENSEMBL:ENSG00000081277	plakophilin 1
+ORPHANET:158778	Isolated bone marrow mastocytosis	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:158775	Smoldering systemic mastocytosis	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:158772	Nodular urticaria pigmentosa	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:1986	Gollop-Wolfgang complex	ENSEMBL:ENSG00000205899	basic helix-loop-helix family member a9
+ORPHANET:2348	Familial partial lipodystrophy, Dunnigan type	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:247768	Müllerian aplasia and hyperandrogenism	ENSEMBL:ENSG00000162552	Wnt family member 4
+ORPHANET:2353	Schilbach-Rott syndrome	ENSEMBL:ENSG00000185920	patched 1
+ORPHANET:247790	FTH1-related iron overload	ENSEMBL:ENSG00000167996	ferritin heavy chain 1
+ORPHANET:247798	MUTYH-related attenuated familial adenomatous polyposis	ENSEMBL:ENSG00000132781	mutY DNA glycosylase
+ORPHANET:247794	Juvenile cataract-microcornea-renal glucosuria syndrome	ENSEMBL:ENSG00000152779	solute carrier family 16 member 12
+ORPHANET:247815	Autosomal recessive ataxia due to PEX10 deficiency	ENSEMBL:ENSG00000157911	peroxisomal biogenesis factor 10
+ORPHANET:247806	APC-related attenuated familial adenomatous polyposis	ENSEMBL:ENSG00000134982	APC regulator of WNT signaling pathway
+ORPHANET:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	ENSEMBL:ENSG00000213689	three prime repair exonuclease 1
+ORPHANET:247685	Odontohypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:2342	Haim-Munk syndrome	ENSEMBL:ENSG00000109861	cathepsin C
+ORPHANET:247709	Multiple endocrine neoplasia type 2B	ENSEMBL:ENSG00000165731	ret proto-oncogene
+ORPHANET:247698	Multiple endocrine neoplasia type 2A	ENSEMBL:ENSG00000165731	ret proto-oncogene
+ORPHANET:485	Kniest dysplasia	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:247585	Citrullinemia type II	ENSEMBL:ENSG00000004864	solute carrier family 25 member 13
+ORPHANET:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	ENSEMBL:ENSG00000004864	solute carrier family 25 member 13
+ORPHANET:2332	KBG syndrome	ENSEMBL:ENSG00000167522	ankyrin repeat domain containing 11
+ORPHANET:247623	Perinatal lethal hypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:2335	NON RARE IN EUROPE: Isolated keratoconus	ENSEMBL:ENSG00000100987	visual system homeobox 1
+ORPHANET:247638	Prenatal benign hypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:2337	Non-epidermolytic palmoplantar keratoderma	ENSEMBL:ENSG00000161798	aquaporin 5
+ORPHANET:247651	Infantile hypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:247667	Childhood-onset hypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:247676	Adult hypophosphatasia	ENSEMBL:ENSG00000162551	alkaline phosphatase, biomineralization associated
+ORPHANET:494	Keratoderma hereditarium mutilans	ENSEMBL:ENSG00000165474	gap junction protein beta 2
+ORPHANET:247378	Autosomal recessive secondary polycythemia not associated with VHL gene	ENSEMBL:ENSG00000172331	bisphosphoglycerate mutase
+ORPHANET:2323	Sanjad-Sakati syndrome	ENSEMBL:ENSG00000284770	tubulin folding cofactor E
+ORPHANET:247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome	ENSEMBL:ENSG00000156313	retinitis pigmentosa GTPase regulator
+ORPHANET:247546	Acute neonatal citrullinemia type I	ENSEMBL:ENSG00000130707	argininosuccinate synthase 1
+ORPHANET:247573	Adult-onset citrullinemia type I	ENSEMBL:ENSG00000130707	argininosuccinate synthase 1
+ORPHANET:2407	Laryngo-onycho-cutaneous syndrome	ENSEMBL:ENSG00000053747	laminin subunit alpha 3
+ORPHANET:248340	Isolated delta-storage pool disease	ENSEMBL:ENSG00000151702	Fli-1 proto-oncogene, ETS transcription factor
+ORPHANET:2388	Choreoacanthocytosis	ENSEMBL:ENSG00000197969	vacuolar protein sorting 13 homolog A
+ORPHANET:248111	Juvenile Huntington disease	ENSEMBL:ENSG00000197386	huntingtin
+ORPHANET:2387	Leukonychia totalis	ENSEMBL:ENSG00000187091	phospholipase C delta 1
+ORPHANET:2379	Early-onset parkinsonism-intellectual disability syndrome	ENSEMBL:ENSG00000155961	RAB39B, member RAS oncogene family
+ORPHANET:247834	Occult macular dystrophy	ENSEMBL:ENSG00000183638	RP1 like 1
+ORPHANET:247820	Ectodermal dysplasia-syndactyly syndrome	ENSEMBL:ENSG00000143217	nectin cell adhesion molecule 4
+ORPHANET:2378	Laurin-Sandrow syndrome	ENSEMBL:ENSG00000105983	limb development membrane protein 1
+ORPHANET:247868	NLRP12-associated hereditary periodic fever syndrome	ENSEMBL:ENSG00000142405	NLR family pyrin domain containing 12
+ORPHANET:2451	Mucocutaneous venous malformations	ENSEMBL:ENSG00000120156	TEK receptor tyrosine kinase
+ORPHANET:244283	Biliary atresia with splenic malformation syndrome	ENSEMBL:ENSG00000136698	cripto, FRL-1, cryptic family 1
+ORPHANET:244310	RFT1-CDG	ENSEMBL:ENSG00000163933	RFT1 homolog
+ORPHANET:2438	Hand-foot-genital syndrome	ENSEMBL:ENSG00000106031	homeobox A13
+ORPHANET:243343	Dimethylglycine dehydrogenase deficiency	ENSEMBL:ENSG00000132837	dimethylglycine dehydrogenase
+ORPHANET:243367	Acute fatty liver of pregnancy	ENSEMBL:ENSG00000084754	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
+ORPHANET:2484	Melnick-Needles syndrome	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:2473	McKusick-Kaufman syndrome	ENSEMBL:ENSG00000125863	MKKS centrosomal shuttling protein
+ORPHANET:561	Marshall-Smith syndrome	ENSEMBL:ENSG00000008441	nuclear factor I X
+ORPHANET:2461	Marden-Walker syndrome	ENSEMBL:ENSG00000154864	piezo type mechanosensitive ion channel component 2
+ORPHANET:2176	Infantile systemic hyalinosis	ENSEMBL:ENSG00000163297	ANTXR cell adhesion molecule 2
+ORPHANET:251656	Oligoastrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:251663	Anaplastic oligoastrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	ENSEMBL:ENSG00000164007	claudin 19
+ORPHANET:251589	Anaplastic astrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:251598	Protoplasmic astrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:251604	Gemistocytic astrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:251601	Fibrillary astrocytoma	ENSEMBL:ENSG00000182054	isocitrate dehydrogenase (NADP(+)) 2
+ORPHANET:2169	Methylcobalamin deficiency type cblE	ENSEMBL:ENSG00000124275	5-methyltetrahydrofolate-homocysteine methyltransferase reductase
+ORPHANET:2228	Hypodontia-dysplasia of nails syndrome	ENSEMBL:ENSG00000163132	msh homeobox 1
+ORPHANET:2224	Hypertryptophanemia	ENSEMBL:ENSG00000151790	tryptophan 2,3-dioxygenase
+ORPHANET:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	ENSEMBL:ENSG00000107485	GATA binding protein 3
+ORPHANET:251863	Desmoplastic/nodular medulloblastoma	ENSEMBL:ENSG00000107882	SUFU negative regulator of hedgehog signaling
+ORPHANET:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	ENSEMBL:ENSG00000129667	rhomboid 5 homolog 2
+ORPHANET:251858	Medulloblastoma with extensive nodularity	ENSEMBL:ENSG00000107882	SUFU negative regulator of hedgehog signaling
+ORPHANET:251899	Choroid plexus carcinoma	ENSEMBL:ENSG00000141510	tumor protein p53
+ORPHANET:251019	2q32q33 microdeletion syndrome	ENSEMBL:ENSG00000119042	SATB homeobox 2
+ORPHANET:251028	SATB2-associated syndrome due to a chromosomal rearrangement	ENSEMBL:ENSG00000119042	SATB homeobox 2
+ORPHANET:672	Pallister-Hall syndrome	ENSEMBL:ENSG00000106571	GLI family zinc finger 3
+ORPHANET:455	Superficial epidermolytic ichthyosis	ENSEMBL:ENSG00000172867	keratin 2
+ORPHANET:251061	7q31 microdeletion syndrome	ENSEMBL:ENSG00000128573	forkhead box P2
+ORPHANET:251066	8p11.2 deletion syndrome	ENSEMBL:ENSG00000029534	ankyrin 1
+ORPHANET:251071	8p23.1 microdeletion syndrome	ENSEMBL:ENSG00000136574	GATA binding protein 4
+ORPHANET:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	ENSEMBL:ENSG00000012174	membrane bound transcription factor peptidase, site 2
+ORPHANET:139	CHILD syndrome	ENSEMBL:ENSG00000147383	NAD(P) dependent steroid dehydrogenase-like
+ORPHANET:457	Harlequin ichthyosis	ENSEMBL:ENSG00000144452	ATP binding cassette subfamily A member 12
+ORPHANET:251056	6q25 microdeletion syndrome	ENSEMBL:ENSG00000049618	AT-rich interaction domain 1B
+ORPHANET:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	ENSEMBL:ENSG00000124827	glial cells missing transcription factor 2
+ORPHANET:250977	AICA-ribosiduria	ENSEMBL:ENSG00000138363	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
+ORPHANET:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	ENSEMBL:ENSG00000101596	structural maintenance of chromosomes flexible hinge domain containing 1
+ORPHANET:250972	Polymicrogyria with optic nerve hypoplasia	ENSEMBL:ENSG00000183785	tubulin alpha 8
+ORPHANET:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	ENSEMBL:ENSG00000141448	GATA binding protein 6
+ORPHANET:251383	CK syndrome	ENSEMBL:ENSG00000147383	NAD(P) dependent steroid dehydrogenase-like
+ORPHANET:251370	Sickle cell-hemoglobin D disease syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:251375	Sickle cell-hemoglobin E disease syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:251359	Sickle cell-beta-thalassemia disease syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:251365	Sickle cell-hemoglobin C disease syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:2319	Juberg-Hayward syndrome	ENSEMBL:ENSG00000171320	establishment of sister chromatid cohesion N-acetyltransferase 2
+ORPHANET:251523	Hyperzincemia and hypercalprotectinemia	ENSEMBL:ENSG00000140368	proline-serine-threonine phosphatase interacting protein 1
+ORPHANET:2315	Johanson-Blizzard syndrome	ENSEMBL:ENSG00000159459	ubiquitin protein ligase E3 component n-recognin 1
+ORPHANET:2307	IVIC syndrome	ENSEMBL:ENSG00000101115	spalt like transcription factor 4
+ORPHANET:251295	Pigmented paravenous retinochoroidal atrophy	ENSEMBL:ENSG00000134376	crumbs cell polarity complex component 1
+ORPHANET:251290	Parietal foramina with clavicular hypoplasia	ENSEMBL:ENSG00000120149	msh homeobox 2
+ORPHANET:251287	Benign concentric annular macular dystrophy	ENSEMBL:ENSG00000112706	interphotoreceptor matrix proteoglycan 1
+ORPHANET:251282	Autosomal dominant spastic ataxia type 1	ENSEMBL:ENSG00000139190	vesicle associated membrane protein 1
+ORPHANET:251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	ENSEMBL:ENSG00000235718	membrane frizzled-related protein
+ORPHANET:251274	Familial hyperaldosteronism type III	ENSEMBL:ENSG00000120457	potassium inwardly rectifying channel subfamily J member 5
+ORPHANET:251262	Familial osteochondritis dissecans	ENSEMBL:ENSG00000157766	aggrecan
+ORPHANET:251347	Ataxia-telangiectasia-like disorder	ENSEMBL:ENSG00000020922	MRE11 homolog, double strand break repair nuclease
+ORPHANET:2289	Neuronal intranuclear inclusion disease	ENSEMBL:ENSG00000286219	notch 2 N-terminal like C
+ORPHANET:254857	Lethal infantile mitochondrial myopathy	ENSEMBL:ENSG00000210195	mitochondrially encoded tRNA-Thr (ACN)
+ORPHANET:2662	Keipert syndrome	ENSEMBL:ENSG00000076716	glypican 4
+ORPHANET:1475	Renal coloboma syndrome	ENSEMBL:ENSG00000075891	paired box 2
+ORPHANET:2670	Pierson syndrome	ENSEMBL:ENSG00000172037	laminin subunit beta 2
+ORPHANET:254930	Combined oxidative phosphorylation defect type 7	ENSEMBL:ENSG00000130921	mitochondrial translation release factor in rescue
+ORPHANET:254925	Combined oxidative phosphorylation defect type 4	ENSEMBL:ENSG00000178952	Tu translation elongation factor, mitochondrial
+ORPHANET:254920	Combined oxidative phosphorylation defect type 2	ENSEMBL:ENSG00000182180	mitochondrial ribosomal protein S16
+ORPHANET:255182	Pyruvate dehydrogenase E3-binding protein deficiency	ENSEMBL:ENSG00000110435	pyruvate dehydrogenase complex component X
+ORPHANET:255138	Pyruvate dehydrogenase E1-beta deficiency	ENSEMBL:ENSG00000168291	pyruvate dehydrogenase E1 subunit beta
+ORPHANET:255132	Adult-onset autosomal recessive sideroblastic anemia	ENSEMBL:ENSG00000182512	glutaredoxin 5
+ORPHANET:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	ENSEMBL:ENSG00000165474	gap junction protein beta 2
+ORPHANET:254881	Spinocerebellar ataxia with epilepsy	ENSEMBL:ENSG00000140521	DNA polymerase gamma, catalytic subunit
+ORPHANET:254875	Mitochondrial DNA depletion syndrome, myopathic form	ENSEMBL:ENSG00000166548	thymidine kinase 2
+ORPHANET:254902	Renal tubulopathy-encephalopathy-liver failure syndrome	ENSEMBL:ENSG00000074582	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
+ORPHANET:254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	ENSEMBL:ENSG00000148459	decaprenyl diphosphate synthase subunit 1
+ORPHANET:2712	Oculofaciocardiodental syndrome	ENSEMBL:ENSG00000183337	BCL6 corepressor
+ORPHANET:2717	Oculotrichoanal syndrome	ENSEMBL:ENSG00000164946	FRAS1 related extracellular matrix 1
+ORPHANET:255229	Navajo neurohepatopathy	ENSEMBL:ENSG00000115204	mitochondrial inner membrane protein MPV17
+ORPHANET:2707	Oculocerebrofacial syndrome, Kaufman type	ENSEMBL:ENSG00000151148	ubiquitin protein ligase E3B
+ORPHANET:255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	ENSEMBL:ENSG00000048392	ribonucleotide reductase regulatory TP53 inducible subunit M2B
+ORPHANET:2710	Oculodentodigital dysplasia	ENSEMBL:ENSG00000152661	gap junction protein alpha 1
+ORPHANET:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	ENSEMBL:ENSG00000080503	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
+ORPHANET:2721	Odonto-onycho-dermal dysplasia	ENSEMBL:ENSG00000135925	Wnt family member 10A
+ORPHANET:2725	Eye defects-arachnodactyly-cardiopathy syndrome	ENSEMBL:ENSG00000176022	beta-1,3-galactosyltransferase 6
+ORPHANET:2753	Orofaciodigital syndrome type 4	ENSEMBL:ENSG00000119977	tectonic family member 3
+ORPHANET:2752	Orofaciodigital syndrome type 3	ENSEMBL:ENSG00000205084	transmembrane protein 231
+ORPHANET:2751	Orofaciodigital syndrome type 2	ENSEMBL:ENSG00000137601	NIMA related kinase 1
+ORPHANET:2750	Orofaciodigital syndrome type 1	ENSEMBL:ENSG00000046651	OFD1 centriole and centriolar satellite protein
+ORPHANET:254361	Plectin-related limb-girdle muscular dystrophy R17	ENSEMBL:ENSG00000178209	plectin
+ORPHANET:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	ENSEMBL:ENSG00000204103	MAF bZIP transcription factor B
+ORPHANET:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	ENSEMBL:ENSG00000107951	mitochondrial poly(A) polymerase
+ORPHANET:254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	ENSEMBL:ENSG00000065427	lysyl-tRNA synthetase 1
+ORPHANET:2762	Progressive osseous heteroplasia	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:2763	Osteocraniostenosis	ENSEMBL:ENSG00000166801	FAM111 trypsin like peptidase A
+ORPHANET:252206	Melanoma and neural system tumor syndrome	ENSEMBL:ENSG00000147889	cyclin dependent kinase inhibitor 2A
+ORPHANET:2789	Lateral meningocele syndrome	ENSEMBL:ENSG00000074181	notch receptor 3
+ORPHANET:2788	Osteoporosis-pseudoglioma syndrome	ENSEMBL:ENSG00000162337	LDL receptor related protein 5
+ORPHANET:2791	Otodental syndrome	ENSEMBL:ENSG00000186895	fibroblast growth factor 3
+ORPHANET:2790	Endosteal hyperostosis, Worth type	ENSEMBL:ENSG00000162337	LDL receptor related protein 5
+ORPHANET:1306	Buschke-Ollendorff syndrome	ENSEMBL:ENSG00000174106	LEM domain containing 3
+ORPHANET:2783	Autosomal dominant osteopetrosis type 1	ENSEMBL:ENSG00000162337	LDL receptor related protein 5
+ORPHANET:2780	Osteopathia striata-cranial sclerosis syndrome	ENSEMBL:ENSG00000184675	APC membrane recruitment protein 1
+ORPHANET:2807	Papilloma of choroid plexus	ENSEMBL:ENSG00000141510	tumor protein p53
+ORPHANET:678	Papillon-Lefèvre syndrome	ENSEMBL:ENSG00000109861	cathepsin C
+ORPHANET:254704	Genetic hyperferritinemia without iron overload	ENSEMBL:ENSG00000087086	ferritin light chain
+ORPHANET:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	ENSEMBL:ENSG00000131269	ATP binding cassette subfamily B member 7
+ORPHANET:2498	Syndactyly type 8	ENSEMBL:ENSG00000196468	fibroblast growth factor 16
+ORPHANET:2499	Metachondromatosis	ENSEMBL:ENSG00000179295	protein tyrosine phosphatase non-receptor type 11
+ORPHANET:2500	Acrogeria	ENSEMBL:ENSG00000168542	collagen type III alpha 1 chain
+ORPHANET:2501	Metaphyseal chondrodysplasia, Spahr type	ENSEMBL:ENSG00000137745	matrix metallopeptidase 13
+ORPHANET:2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	ENSEMBL:ENSG00000124813	RUNX family transcription factor 2
+ORPHANET:2508	Corpus callosum agenesis-abnormal genitalia syndrome	ENSEMBL:ENSG00000004848	aristaless related homeobox
+ORPHANET:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	ENSEMBL:ENSG00000138160	kinesin family member 11
+ORPHANET:575	Muckle-Wells syndrome	ENSEMBL:ENSG00000162711	NLR family pyrin domain containing 3
+ORPHANET:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	ENSEMBL:ENSG00000068394	G-patch domain and KOW motifs
+ORPHANET:2585	Ataxia-pancytopenia syndrome	ENSEMBL:ENSG00000177409	sterile alpha motif domain containing 9 like
+ORPHANET:261144	FOXG1 syndrome due to 14q12 microdeletion	ENSEMBL:ENSG00000176165	forkhead box G1
+ORPHANET:2576	Mulibrey nanism	ENSEMBL:ENSG00000108395	tripartite motif containing 37
+ORPHANET:261222	Distal 16p11.2 microdeletion syndrome	ENSEMBL:ENSG00000178188	SH2B adaptor protein 1
+ORPHANET:261229	14q11.2 microduplication syndrome	ENSEMBL:ENSG00000176165	forkhead box G1
+ORPHANET:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	ENSEMBL:ENSG00000104763	N-acylsphingosine amidohydrolase 1
+ORPHANET:261190	15q14 microdeletion syndrome	ENSEMBL:ENSG00000134138	Meis homeobox 2
+ORPHANET:2588	Myhre syndrome	ENSEMBL:ENSG00000141646	SMAD family member 4
+ORPHANET:261197	Proximal 16p11.2 microdeletion syndrome	ENSEMBL:ENSG00000178188	SH2B adaptor protein 1
+ORPHANET:261295	20p12.3 microdeletion syndrome	ENSEMBL:ENSG00000125845	bone morphogenetic protein 2
+ORPHANET:261279	17q23.1q23.2 microdeletion syndrome	ENSEMBL:ENSG00000121075	T-box transcription factor 4
+ORPHANET:261250	16q24.3 microdeletion syndrome	ENSEMBL:ENSG00000167522	ankyrin repeat domain containing 11
+ORPHANET:2613	Nail-patella-like renal disease	ENSEMBL:ENSG00000136944	LIM homeobox transcription factor 1 beta
+ORPHANET:261257	Distal 17p13.3 microdeletion syndrome	ENSEMBL:ENSG00000108953	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
+ORPHANET:261323	21q22.11q22.12 microdeletion syndrome	ENSEMBL:ENSG00000163808	kinesin family member 15
+ORPHANET:261483	Xq27.3q28 duplication syndrome	ENSEMBL:ENSG00000102081	fragile X messenger ribonucleoprotein 1
+ORPHANET:2632	Langer mesomelic dysplasia	ENSEMBL:ENSG00000185960	short stature homeobox
+ORPHANET:2646	Parastremmatic dwarfism	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:2645	Osteoglosphonic dysplasia	ENSEMBL:ENSG00000077782	fibroblast growth factor receptor 1
+ORPHANET:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	ENSEMBL:ENSG00000134982	APC regulator of WNT signaling pathway
+ORPHANET:261600	Alagille syndrome due to 20p12 microdeletion	ENSEMBL:ENSG00000101384	jagged canonical Notch ligand 1
+ORPHANET:261619	Alagille syndrome due to a JAG1 point mutation	ENSEMBL:ENSG00000101384	jagged canonical Notch ligand 1
+ORPHANET:261537	Mowat-Wilson syndrome due to monosomy 2q22	ENSEMBL:ENSG00000169554	zinc finger E-box binding homeobox 2
+ORPHANET:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	ENSEMBL:ENSG00000169554	zinc finger E-box binding homeobox 2
+ORPHANET:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	ENSEMBL:ENSG00000264229	RNA, U4atac small nuclear (U12-dependent splicing)
+ORPHANET:2658	Lenz-Majewski hyperostotic dwarfism	ENSEMBL:ENSG00000156471	phosphatidylserine synthase 1
+ORPHANET:261629	Alagille syndrome due to a NOTCH2 point mutation	ENSEMBL:ENSG00000134250	notch receptor 2
+ORPHANET:261638	Okihiro syndrome due to 20q13 microdeletion	ENSEMBL:ENSG00000101115	spalt like transcription factor 4
+ORPHANET:261647	Okihiro syndrome due to a point mutation	ENSEMBL:ENSG00000101115	spalt like transcription factor 4
+ORPHANET:3057	Monoamine oxidase A deficiency	ENSEMBL:ENSG00000189221	monoamine oxidase A
+ORPHANET:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	ENSEMBL:ENSG00000156650	lysine acetyltransferase 6B
+ORPHANET:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	ENSEMBL:ENSG00000181722	zinc finger and BTB domain containing 20
+ORPHANET:263553	Peeling skin syndrome type B	ENSEMBL:ENSG00000204539	corneodesmosin
+ORPHANET:3032	NPHP3-related Meckel-like syndrome	ENSEMBL:ENSG00000113971	nephrocystin 3
+ORPHANET:263516	Progressive myoclonic epilepsy type 3	ENSEMBL:ENSG00000243335	potassium channel tetramerization domain containing 7
+ORPHANET:263501	COG4-CDG	ENSEMBL:ENSG00000103051	component of oligomeric golgi complex 4
+ORPHANET:263508	COG1-CDG	ENSEMBL:ENSG00000166685	component of oligomeric golgi complex 1
+ORPHANET:263482	Spondyloepiphyseal dysplasia, Maroteaux type	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:3021	RAPADILINO syndrome	ENSEMBL:ENSG00000160957	RecQ like helicase 4
+ORPHANET:263494	DPM3-CDG	ENSEMBL:ENSG00000179085	dolichyl-phosphate mannosyltransferase subunit 3, regulatory
+ORPHANET:263487	COG5-CDG	ENSEMBL:ENSG00000164597	component of oligomeric golgi complex 5
+ORPHANET:263458	Hyperinsulinism due to INSR deficiency	ENSEMBL:ENSG00000171105	insulin receptor
+ORPHANET:263455	Hyperinsulinism due to HNF4A deficiency	ENSEMBL:ENSG00000101076	hepatocyte nuclear factor 4 alpha
+ORPHANET:1832	Lethal osteosclerotic bone dysplasia	ENSEMBL:ENSG00000177706	FAM20C golgi associated secretory pathway kinase
+ORPHANET:3019	Ramon syndrome	ENSEMBL:ENSG00000062598	engulfment and cell motility 2
+ORPHANET:263463	CHST3-related skeletal dysplasia	ENSEMBL:ENSG00000122863	carbohydrate sulfotransferase 3
+ORPHANET:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	ENSEMBL:ENSG00000135917	solute carrier family 19 member 3
+ORPHANET:769	Rabson-Mendenhall syndrome	ENSEMBL:ENSG00000171105	insulin receptor
+ORPHANET:3005	Pyle disease	ENSEMBL:ENSG00000106483	secreted frizzled related protein 4
+ORPHANET:263347	MRCS syndrome	ENSEMBL:ENSG00000167995	bestrophin 1
+ORPHANET:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	ENSEMBL:ENSG00000163754	glycogenin 1
+ORPHANET:3138	Ulnar-mammary syndrome	ENSEMBL:ENSG00000135111	T-box transcription factor 3
+ORPHANET:798	Schinzel-Giedion syndrome	ENSEMBL:ENSG00000152217	SET binding protein 1
+ORPHANET:3102	Richieri Costa-Pereira syndrome	ENSEMBL:ENSG00000141543	eukaryotic translation initiation factor 4A3
+ORPHANET:3109	Mayer-Rokitansky-Küster-Hauser syndrome	ENSEMBL:ENSG00000162552	Wnt family member 4
+ORPHANET:3086	Autosomal dominant vitreoretinochoroidopathy	ENSEMBL:ENSG00000167995	bestrophin 1
+ORPHANET:3088	Revesz syndrome	ENSEMBL:ENSG00000092330	TERF1 interacting nuclear factor 2
+ORPHANET:3097	Meacham syndrome	ENSEMBL:ENSG00000184937	WT1 transcription factor
+ORPHANET:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	ENSEMBL:ENSG00000169057	methyl-CpG binding protein 2
+ORPHANET:3063	X-linked intellectual disability, Snyder type	ENSEMBL:ENSG00000102172	spermine synthase
+ORPHANET:2886	TARP syndrome	ENSEMBL:ENSG00000182872	RNA binding motif protein 10
+ORPHANET:2879	Phocomelia, Schinzel type	ENSEMBL:ENSG00000154764	Wnt family member 7A
+ORPHANET:268920	Isolated megalencephaly	ENSEMBL:ENSG00000145979	TBC1 domain family member 7
+ORPHANET:268882	Arnold-Chiari malformation type I	ENSEMBL:ENSG00000107984	dickkopf WNT signaling pathway inhibitor 1
+ORPHANET:268823	Occipital encephalocele	ENSEMBL:ENSG00000165617	dishevelled binding antagonist of beta catenin 1
+ORPHANET:2874	Phakomatosis pigmentokeratotica	ENSEMBL:ENSG00000174775	HRas proto-oncogene, GTPase
+ORPHANET:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	ENSEMBL:ENSG00000116690	proteoglycan 4
+ORPHANET:2854	Fuhrmann syndrome	ENSEMBL:ENSG00000154764	Wnt family member 7A
+ORPHANET:268129	Spheroid body myopathy	ENSEMBL:ENSG00000120729	myotilin
+ORPHANET:2822	Autosomal recessive spastic paraplegia type 11	ENSEMBL:ENSG00000104133	SPG11 vesicle trafficking associated, spatacsin
+ORPHANET:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	ENSEMBL:ENSG00000157540	dual specificity tyrosine phosphorylation regulated kinase 1A
+ORPHANET:2833	Stiff skin syndrome	ENSEMBL:ENSG00000166147	fibrillin 1
+ORPHANET:2834	Wrinkly skin syndrome	ENSEMBL:ENSG00000185344	ATPase H+ transporting V0 subunit a2
+ORPHANET:2969	Proteus-like syndrome	ENSEMBL:ENSG00000171862	phosphatase and tensin homolog
+ORPHANET:750	Pseudoachondroplasia	ENSEMBL:ENSG00000105664	cartilage oligomeric matrix protein
+ORPHANET:2957	Guttmacher syndrome	ENSEMBL:ENSG00000106031	homeobox A13
+ORPHANET:2899	Brachyolmia-amelogenesis imperfecta syndrome	ENSEMBL:ENSG00000168056	latent transforming growth factor beta binding protein 3
+ORPHANET:2919	Orofaciodigital syndrome type 5	ENSEMBL:ENSG00000118197	DEAD-box helicase 59
+ORPHANET:3377	Trismus-pseudocamptodactyly syndrome	ENSEMBL:ENSG00000133020	myosin heavy chain 8
+ORPHANET:275786	Drug- or toxin-induced pulmonary arterial hypertension	ENSEMBL:ENSG00000204217	bone morphogenetic protein receptor type 2
+ORPHANET:275798	Pulmonary arterial hypertension associated with connective tissue disease	ENSEMBL:ENSG00000234745	major histocompatibility complex, class I, B
+ORPHANET:3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	ENSEMBL:ENSG00000032444	patatin like phospholipase domain containing 6
+ORPHANET:3412	VACTERL with hydrocephalus	ENSEMBL:ENSG00000181544	FA complementation group B
+ORPHANET:276152	Multiple endocrine neoplasia type 4	ENSEMBL:ENSG00000111276	cyclin dependent kinase inhibitor 1B
+ORPHANET:276066	Bile acid CoA ligase deficiency and defective amidation	ENSEMBL:ENSG00000083807	solute carrier family 27 member 5
+ORPHANET:3329	Tibial aplasia-ectrodactyly syndrome	ENSEMBL:ENSG00000205899	basic helix-loop-helix family member a9
+ORPHANET:275517	Autoimmune lymphoproliferative syndrome with recurrent viral infections	ENSEMBL:ENSG00000064012	caspase 8
+ORPHANET:3352	Tricho-dento-osseous syndrome	ENSEMBL:ENSG00000064195	distal-less homeobox 3
+ORPHANET:3342	Arterial tortuosity syndrome	ENSEMBL:ENSG00000197496	solute carrier family 2 member 10
+ORPHANET:3339	Toriello-Lacassie-Droste syndrome	ENSEMBL:ENSG00000133703	KRAS proto-oncogene, GTPase
+ORPHANET:3338	Toriello-Carey syndrome	ENSEMBL:ENSG00000215301	DEAD-box helicase 3 X-linked
+ORPHANET:3464	Woodhouse-Sakati syndrome	ENSEMBL:ENSG00000115827	DDB1 and CUL4 associated factor 17
+ORPHANET:3243	Sweet syndrome	ENSEMBL:ENSG00000103313	MEFV innate immuity regulator, pyrin
+ORPHANET:1827	Acromelic frontonasal dysplasia	ENSEMBL:ENSG00000130449	zinc finger SWIM-type containing 6
+ORPHANET:268973	Isolated focal cortical dysplasia type Ia	ENSEMBL:ENSG00000102100	solute carrier family 35 member A2
+ORPHANET:2460	Van den Ende-Gupta syndrome	ENSEMBL:ENSG00000244486	scavenger receptor class F member 2
+ORPHANET:3453	Autoimmune polyendocrinopathy type 1	ENSEMBL:ENSG00000160224	autoimmune regulator
+ORPHANET:269510	Congenital non-communicating hydrocephalus	ENSEMBL:ENSG00000015133	coiled-coil domain containing 88C
+ORPHANET:3454	Intellectual disability-developmental delay-contractures syndrome	ENSEMBL:ENSG00000126970	zinc finger C4H2-type containing
+ORPHANET:3455	Wiedemann-Rautenstrauch syndrome	ENSEMBL:ENSG00000148606	RNA polymerase III subunit A
+ORPHANET:1856	Spondyloperipheral dysplasia-short ulna syndrome	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	ENSEMBL:ENSG00000173402	dystroglycan 1
+ORPHANET:280325	Distal monosomy 12p	ENSEMBL:ENSG00000082805	ELKS/RAB6-interacting/CAST family member 1
+ORPHANET:280293	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	ENSEMBL:ENSG00000164022	aminoacyl tRNA synthetase complex interacting multifunctional protein 1
+ORPHANET:280288	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	ENSEMBL:ENSG00000144381	heat shock protein family D (Hsp60) member 1
+ORPHANET:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:3193	Supravalvular aortic stenosis	ENSEMBL:ENSG00000049540	elastin
+ORPHANET:280356	PLIN1-related familial partial lipodystrophy	ENSEMBL:ENSG00000166819	perilipin 1
+ORPHANET:280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	ENSEMBL:ENSG00000119723	coenzyme Q6, monooxygenase
+ORPHANET:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	ENSEMBL:ENSG00000147475	ER lipid raft associated 2
+ORPHANET:280397	Familial Alzheimer-like prion disease	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:280576	Nestor-Guillermo progeria syndrome	ENSEMBL:ENSG00000175334	BAF nuclear assembly factor 1
+ORPHANET:280586	Chondrodysplasia with joint dislocations, gPAPP type	ENSEMBL:ENSG00000104331	3'(2'), 5'-bisphosphate nucleotidase 2
+ORPHANET:280553	Fatal infantile hypertonic myofibrillar myopathy	ENSEMBL:ENSG00000109846	crystallin alpha B
+ORPHANET:280558	Warsaw breakage syndrome	ENSEMBL:ENSG00000013573	DEAD/H-box helicase 11
+ORPHANET:647	Nijmegen breakage syndrome	ENSEMBL:ENSG00000104320	nibrin
+ORPHANET:279943	Hereditary neutrophilia	ENSEMBL:ENSG00000119535	colony stimulating factor 3 receptor
+ORPHANET:279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	ENSEMBL:ENSG00000114956	deoxyguanosine kinase
+ORPHANET:280142	Severe combined immunodeficiency due to LCK deficiency	ENSEMBL:ENSG00000182866	LCK proto-oncogene, Src family tyrosine kinase
+ORPHANET:280133	Complement component 3 deficiency	ENSEMBL:ENSG00000125730	complement C3
+ORPHANET:3163	SHORT syndrome	ENSEMBL:ENSG00000145675	phosphoinositide-3-kinase regulatory subunit 1
+ORPHANET:1479	Atrial septal defect-atrioventricular conduction defects syndrome	ENSEMBL:ENSG00000183072	NK2 homeobox 5
+ORPHANET:280071	ALG11-CDG	ENSEMBL:ENSG00000253710	ALG11 alpha-1,2-mannosyltransferase
+ORPHANET:280210	Pelizaeus-Merzbacher disease, connatal form	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:280219	Pelizaeus-Merzbacher disease, classic form	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	ENSEMBL:ENSG00000004848	aristaless related homeobox
+ORPHANET:280183	Methylmalonic aciduria due to transcobalamin receptor defect	ENSEMBL:ENSG00000167775	CD320 molecule
+ORPHANET:280282	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	ENSEMBL:ENSG00000198835	gap junction protein gamma 2
+ORPHANET:280234	Null syndrome	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:1855	Spondyloenchondrodysplasia	ENSEMBL:ENSG00000102575	acid phosphatase 5, tartrate resistant
+ORPHANET:280224	Pelizaeus-Merzbacher disease, transitional form	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:1797	Autosomal dominant spondylocostal dysostosis	ENSEMBL:ENSG00000149922	T-box transcription factor 6
+ORPHANET:280229	Pelizaeus-Merzbacher disease in female carriers	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	ENSEMBL:ENSG00000187486	potassium inwardly rectifying channel subfamily J member 11
+ORPHANET:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	ENSEMBL:ENSG00000006071	ATP binding cassette subfamily C member 8
+ORPHANET:276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	ENSEMBL:ENSG00000006071	ATP binding cassette subfamily C member 8
+ORPHANET:276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	ENSEMBL:ENSG00000187486	potassium inwardly rectifying channel subfamily J member 11
+ORPHANET:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	ENSEMBL:ENSG00000177189	ribosomal protein S6 kinase A3
+ORPHANET:276198	Spinocerebellar ataxia type 36	ENSEMBL:ENSG00000101361	NOP56 ribonucleoprotein
+ORPHANET:276193	Spinocerebellar ataxia type 35	ENSEMBL:ENSG00000166948	transglutaminase 6
+ORPHANET:3226	Deafness-lymphedema-leukemia syndrome	ENSEMBL:ENSG00000179348	GATA binding protein 2
+ORPHANET:276238	Machado-Joseph disease type 1	ENSEMBL:ENSG00000066427	ataxin 3
+ORPHANET:276223	Mucopolysaccharidosis type 6, slowly progressing	ENSEMBL:ENSG00000113273	arylsulfatase B
+ORPHANET:276212	Mucopolysaccharidosis type 6, rapidly progressing	ENSEMBL:ENSG00000113273	arylsulfatase B
+ORPHANET:276244	Machado-Joseph disease type 3	ENSEMBL:ENSG00000066427	ataxin 3
+ORPHANET:276241	Machado-Joseph disease type 2	ENSEMBL:ENSG00000066427	ataxin 3
+ORPHANET:276280	Hemihyperplasia-multiple lipomatosis syndrome	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:3238	Cardiospondylocarpofacial syndrome	ENSEMBL:ENSG00000135341	mitogen-activated protein kinase kinase kinase 7
+ORPHANET:276271	NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia	ENSEMBL:ENSG00000163631	albumin
+ORPHANET:276405	Hyperbiliverdinemia	ENSEMBL:ENSG00000106605	biliverdin reductase A
+ORPHANET:3255	Filippi syndrome	ENSEMBL:ENSG00000169607	cytoskeleton associated protein 2 like
+ORPHANET:276556	Hyperinsulinism due to UCP2 deficiency	ENSEMBL:ENSG00000175567	uncoupling protein 2
+ORPHANET:276432	Ogden syndrome	ENSEMBL:ENSG00000102030	N-alpha-acetyltransferase 10, NatA catalytic subunit
+ORPHANET:3253	Cleft lip/palate-ectodermal dysplasia syndrome	ENSEMBL:ENSG00000110400	nectin cell adhesion molecule 1
+ORPHANET:276435	Lower motor neuron syndrome with late-adult onset	ENSEMBL:ENSG00000250479	coiled-coil-helix-coiled-coil-helix domain containing 10
+ORPHANET:911	Combined immunodeficiency due to ZAP70 deficiency	ENSEMBL:ENSG00000115085	zeta chain of T-cell receptor associated protein kinase 70
+ORPHANET:943	Malonic aciduria	ENSEMBL:ENSG00000103150	malonyl-CoA decarboxylase
+ORPHANET:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	ENSEMBL:ENSG00000111713	glycogen synthase 2
+ORPHANET:412	Dysbetalipoproteinemia	ENSEMBL:ENSG00000130203	apolipoprotein E
+ORPHANET:743	Severe hereditary thrombophilia due to congenital protein S deficiency	ENSEMBL:ENSG00000184500	protein S
+ORPHANET:424	Familial hyperthyroidism due to mutations in TSH receptor	ENSEMBL:ENSG00000165409	thyroid stimulating hormone receptor
+ORPHANET:325	Congenital factor II deficiency	ENSEMBL:ENSG00000180210	coagulation factor II, thrombin
+ORPHANET:343	Hyperimmunoglobulinemia D with periodic fever	ENSEMBL:ENSG00000110921	mevalonate kinase
+ORPHANET:158	Systemic primary carnitine deficiency	ENSEMBL:ENSG00000197375	solute carrier family 22 member 5
+ORPHANET:2056	Essential fructosuria	ENSEMBL:ENSG00000138030	ketohexokinase
+ORPHANET:820	Sneddon syndrome	ENSEMBL:ENSG00000093072	adenosine deaminase 2
+ORPHANET:832	Succinyl-CoA:3-oxoacid CoA transferase deficiency	ENSEMBL:ENSG00000083720	3-oxoacid CoA-transferase 1
+ORPHANET:20	3-hydroxy-3-methylglutaric aciduria	ENSEMBL:ENSG00000117305	3-hydroxy-3-methylglutaryl-CoA lyase
+ORPHANET:714	Hemolytic anemia due to diphosphoglycerate mutase deficiency	ENSEMBL:ENSG00000172331	bisphosphoglycerate mutase
+ORPHANET:712	Hemolytic anemia due to glucophosphate isomerase deficiency	ENSEMBL:ENSG00000105220	glucose-6-phosphate isomerase
+ORPHANET:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	ENSEMBL:ENSG00000198947	dystrophin
+ORPHANET:206554	Fukutin-related limb-girdle muscular dystrophy R13	ENSEMBL:ENSG00000106692	fukutin
+ORPHANET:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	ENSEMBL:ENSG00000171714	anoctamin 5
+ORPHANET:206564	POMGNT1-related limb-girdle muscular dystrophy R15	ENSEMBL:ENSG00000085998	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
+ORPHANET:206559	POMT2-related limb-girdle muscular dystrophy R14	ENSEMBL:ENSG00000009830	protein O-mannosyltransferase 2
+ORPHANET:206580	Autosomal recessive lower motor neuron disease with childhood onset	ENSEMBL:ENSG00000171680	pleckstrin homology and RhoGEF domain containing G5
+ORPHANET:206443	Late-infantile/juvenile Krabbe disease	ENSEMBL:ENSG00000054983	galactosylceramidase
+ORPHANET:206448	Adult Krabbe disease	ENSEMBL:ENSG00000054983	galactosylceramidase
+ORPHANET:633	Laron syndrome	ENSEMBL:ENSG00000112964	growth hormone receptor
+ORPHANET:229	Familial aortic dissection	ENSEMBL:ENSG00000133392	myosin heavy chain 11
+ORPHANET:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	ENSEMBL:ENSG00000143627	pyruvate kinase L/R
+ORPHANET:206599	Isolated asymptomatic elevation of creatine phosphokinase	ENSEMBL:ENSG00000182533	caveolin 3
+ORPHANET:3206	Stüve-Wiedemann syndrome	ENSEMBL:ENSG00000113594	LIF receptor subunit alpha
+ORPHANET:206583	Adult polyglucosan body disease	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:1272	Aymé-Gripp syndrome	ENSEMBL:ENSG00000178573	MAF bZIP transcription factor
+ORPHANET:208513	Spinocerebellar ataxia type 29	ENSEMBL:ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1
+ORPHANET:208447	Bilateral generalized polymicrogyria	ENSEMBL:ENSG00000176884	glutamate ionotropic receptor NMDA type subunit 1
+ORPHANET:3051	Nicolaides-Baraitser syndrome	ENSEMBL:ENSG00000080503	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
+ORPHANET:208441	Bilateral parasagittal parieto-occipital polymicrogyria	ENSEMBL:ENSG00000112367	FIG4 phosphoinositide 5-phosphatase
+ORPHANET:2963	Progeroid syndrome, Petty type	ENSEMBL:ENSG00000085491	solute carrier family 25 member 24
+ORPHANET:1541	Craniosynostosis, Boston type	ENSEMBL:ENSG00000120149	msh homeobox 2
+ORPHANET:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	ENSEMBL:ENSG00000109132	paired like homeobox 2B
+ORPHANET:209335	Autosomal dominant adult-onset proximal spinal muscular atrophy	ENSEMBL:ENSG00000124164	VAMP associated protein B and C
+ORPHANET:209341	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	ENSEMBL:ENSG00000197102	dynein cytoplasmic 1 heavy chain 1
+ORPHANET:210115	Sterile multifocal osteomyelitis with periostitis and pustulosis	ENSEMBL:ENSG00000136689	interleukin 1 receptor antagonist
+ORPHANET:209981	IRIDA syndrome	ENSEMBL:ENSG00000187045	transmembrane serine protease 6
+ORPHANET:210122	Congenital alveolar capillary dysplasia	ENSEMBL:ENSG00000103241	forkhead box F1
+ORPHANET:210128	Urocanic aciduria	ENSEMBL:ENSG00000159650	urocanate hydratase 1
+ORPHANET:209951	Autosomal recessive spastic paraplegia type 18	ENSEMBL:ENSG00000147475	ER lipid raft associated 2
+ORPHANET:209967	Episodic ataxia type 6	ENSEMBL:ENSG00000079215	solute carrier family 1 member 3
+ORPHANET:209908	Isolated childhood apraxia of speech	ENSEMBL:ENSG00000128573	forkhead box P2
+ORPHANET:209905	Brain-lung-thyroid syndrome	ENSEMBL:ENSG00000136352	NK2 homeobox 1
+ORPHANET:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	ENSEMBL:ENSG00000167910	cytochrome P450 family 7 subfamily A member 1
+ORPHANET:209893	NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency	ENSEMBL:ENSG00000123561	serpin family A member 7
+ORPHANET:209932	Cone dystrophy with supernormal rod response	ENSEMBL:ENSG00000168263	potassium voltage-gated channel modifier subfamily V member 2
+ORPHANET:209370	Severe neonatal-onset encephalopathy with microcephaly	ENSEMBL:ENSG00000169057	methyl-CpG binding protein 2
+ORPHANET:209867	Autosomal dominant rhegmatogenous retinal detachment	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:210571	Dystonia 16	ENSEMBL:ENSG00000180228	protein activator of interferon induced protein kinase EIF2AK2
+ORPHANET:210163	Congenital lethal myopathy, Compton-North type	ENSEMBL:ENSG00000018236	contactin 1
+ORPHANET:210144	Lethal polymalformative syndrome, Boissel type	ENSEMBL:ENSG00000140718	FTO alpha-ketoglutarate dependent dioxygenase
+ORPHANET:1063	Tufted angioma	ENSEMBL:ENSG00000156049	G protein subunit alpha 14
+ORPHANET:211067	Episodic ataxia type 5	ENSEMBL:ENSG00000182389	calcium voltage-gated channel auxiliary subunit beta 4
+ORPHANET:2122	Kaposiform hemangioendothelioma	ENSEMBL:ENSG00000156049	G protein subunit alpha 14
+ORPHANET:220	Denys-Drash syndrome	ENSEMBL:ENSG00000184937	WT1 transcription factor
+ORPHANET:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000084754	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
+ORPHANET:25	Glutaryl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000105607	glutaryl-CoA dehydrogenase
+ORPHANET:818	Smith-Lemli-Opitz syndrome	ENSEMBL:ENSG00000172893	7-dehydrocholesterol reductase
+ORPHANET:213504	Adenocarcinoma of ovary	ENSEMBL:ENSG00000122641	inhibin subunit beta A
+ORPHANET:175	Cartilage-hair hypoplasia	ENSEMBL:ENSG00000277027	RNA component of mitochondrial RNA processing endoribonuclease
+ORPHANET:42	Medium chain acyl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000117054	acyl-CoA dehydrogenase medium chain
+ORPHANET:2066	Gamma-aminobutyric acid transaminase deficiency	ENSEMBL:ENSG00000183044	4-aminobutyrate aminotransferase
+ORPHANET:2849	Perlman syndrome	ENSEMBL:ENSG00000144535	DIS3 like 3'-5' exoribonuclease 2
+ORPHANET:747	Autoimmune pulmonary alveolar proteinosis	ENSEMBL:ENSG00000196126	major histocompatibility complex, class II, DR beta 1
+ORPHANET:216729	Congenitally uncorrected transposition of the great arteries with cardiac malformation	ENSEMBL:ENSG00000136698	cripto, FRL-1, cryptic family 1
+ORPHANET:882	Tyrosinemia type 1	ENSEMBL:ENSG00000103876	fumarylacetoacetate hydrolase
+ORPHANET:216828	Osteogenesis imperfecta type 5	ENSEMBL:ENSG00000206013	interferon induced transmembrane protein 5
+ORPHANET:3474	CHIME syndrome	ENSEMBL:ENSG00000108474	phosphatidylinositol glycan anchor biosynthesis class L
+ORPHANET:216866	Classic pantothenate kinase-associated neurodegeneration	ENSEMBL:ENSG00000125779	pantothenate kinase 2
+ORPHANET:216873	Atypical pantothenate kinase-associated neurodegeneration	ENSEMBL:ENSG00000125779	pantothenate kinase 2
+ORPHANET:217012	Spinocerebellar ataxia type 31	ENSEMBL:ENSG00000166546	brain expressed associated with NEDD4 1
+ORPHANET:2088	Fanconi-Bickel syndrome	ENSEMBL:ENSG00000163581	solute carrier family 2 member 2
+ORPHANET:217031	NON RARE IN EUROPE: Obesity due to MC3R deficiency	ENSEMBL:ENSG00000124089	melanocortin 3 receptor
+ORPHANET:217266	BNAR syndrome	ENSEMBL:ENSG00000164946	FRAS1 related extracellular matrix 1
+ORPHANET:179	Birdshot chorioretinopathy	ENSEMBL:ENSG00000206503	major histocompatibility complex, class I, A
+ORPHANET:217093	Mucopolysaccharidosis type 2, attenuated form	ENSEMBL:ENSG00000010404	iduronate 2-sulfatase
+ORPHANET:217085	Mucopolysaccharidosis type 2, severe form	ENSEMBL:ENSG00000010404	iduronate 2-sulfatase
+ORPHANET:1451	CINCA syndrome	ENSEMBL:ENSG00000162711	NLR family pyrin domain containing 3
+ORPHANET:217059	Isolated congenital digital clubbing	ENSEMBL:ENSG00000164120	15-hydroxyprostaglandin dehydrogenase
+ORPHANET:217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	ENSEMBL:ENSG00000104381	ganglioside induced differentiation associated protein 1
+ORPHANET:217335	RIN2 syndrome	ENSEMBL:ENSG00000132669	Ras and Rab interactor 2
+ORPHANET:2745	Opitz GBBB syndrome	ENSEMBL:ENSG00000101871	midline 1
+ORPHANET:217330	REN-related autosomal dominant tubulointerstitial kidney disease	ENSEMBL:ENSG00000143839	renin
+ORPHANET:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	ENSEMBL:ENSG00000105409	ATPase Na+/K+ transporting subunit alpha 3
+ORPHANET:217566	Chronic respiratory distress with surfactant metabolism deficiency	ENSEMBL:ENSG00000168484	surfactant protein C
+ORPHANET:217563	Neonatal acute respiratory distress due to SP-B deficiency	ENSEMBL:ENSG00000168878	surfactant protein B
+ORPHANET:217407	Hereditary hypotrichosis with recurrent skin vesicles	ENSEMBL:ENSG00000134762	desmocollin 3
+ORPHANET:217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	ENSEMBL:ENSG00000113905	histidine rich glycoprotein
+ORPHANET:217390	Combined immunodeficiency due to DOCK8 deficiency	ENSEMBL:ENSG00000107099	dedicator of cytokinesis 8
+ORPHANET:217396	Progressive polyneuropathy with bilateral striatal necrosis	ENSEMBL:ENSG00000125454	solute carrier family 25 member 19
+ORPHANET:217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	ENSEMBL:ENSG00000100416	tRNA mitochondrial 2-thiouridylase
+ORPHANET:217382	Neurodegenerative syndrome due to cerebral folate transport deficiency	ENSEMBL:ENSG00000110195	folate receptor 1
+ORPHANET:217377	Microduplication Xp11.22p11.23 syndrome	ENSEMBL:ENSG00000124313	IQ motif and Sec7 domain ArfGEF 2
+ORPHANET:217622	Sensorineural deafness with dilated cardiomyopathy	ENSEMBL:ENSG00000112319	EYA transcriptional coactivator and phosphatase 4
+ORPHANET:159	Carnitine-acylcarnitine translocase deficiency	ENSEMBL:ENSG00000178537	solute carrier family 25 member 20
+ORPHANET:79	Congenital alpha2-antiplasmin deficiency	ENSEMBL:ENSG00000167711	serpin family F member 2
+ORPHANET:2157	Histidinemia	ENSEMBL:ENSG00000084110	histidine ammonia-lyase
+ORPHANET:3124	Saccharopinuria	ENSEMBL:ENSG00000008311	aminoadipate-semialdehyde synthase
+ORPHANET:220407	Limited systemic sclerosis	ENSEMBL:ENSG00000196126	major histocompatibility complex, class II, DR beta 1
+ORPHANET:2203	Hyperlysinemia	ENSEMBL:ENSG00000008311	aminoadipate-semialdehyde synthase
+ORPHANET:332	Congenital intrinsic factor deficiency	ENSEMBL:ENSG00000134812	cobalamin binding intrinsic factor
+ORPHANET:220436	Quebec platelet disorder	ENSEMBL:ENSG00000122861	plasminogen activator, urokinase
+ORPHANET:2195	Dicarboxylic aminoaciduria	ENSEMBL:ENSG00000106688	solute carrier family 1 member 1
+ORPHANET:220443	Bleeding diathesis due to thromboxane synthesis deficiency	ENSEMBL:ENSG00000006638	thromboxane A2 receptor
+ORPHANET:2170	Methylcobalamin deficiency type cblG	ENSEMBL:ENSG00000116984	5-methyltetrahydrofolate-homocysteine methyltransferase
+ORPHANET:414	Gyrate atrophy of choroid and retina	ENSEMBL:ENSG00000065154	ornithine aminotransferase
+ORPHANET:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	ENSEMBL:ENSG00000161653	N-acetylglutamate synthase
+ORPHANET:941	D-glyceric aciduria	ENSEMBL:ENSG00000168237	glycerate kinase
+ORPHANET:220465	Laron syndrome with immunodeficiency	ENSEMBL:ENSG00000173757	signal transducer and activator of transcription 5B
+ORPHANET:2843	Pentosuria	ENSEMBL:ENSG00000169738	dicarbonyl and L-xylulose reductase
+ORPHANET:212	Cystathioninuria	ENSEMBL:ENSG00000116761	cystathionine gamma-lyase
+ORPHANET:470	Lysinuric protein intolerance	ENSEMBL:ENSG00000155465	solute carrier family 7 member 7
+ORPHANET:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	ENSEMBL:ENSG00000166228	pterin-4 alpha-carbinolamine dehydratase 1
+ORPHANET:221008	Rothmund-Thomson syndrome type 1	ENSEMBL:ENSG00000153107	anaphase promoting complex subunit 1
+ORPHANET:24	Fumaric aciduria	ENSEMBL:ENSG00000091483	fumarate hydratase
+ORPHANET:221016	Rothmund-Thomson syndrome type 2	ENSEMBL:ENSG00000160957	RecQ like helicase 4
+ORPHANET:851	Paris-Trousseau thrombocytopenia	ENSEMBL:ENSG00000151702	Fli-1 proto-oncogene, ETS transcription factor
+ORPHANET:221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	ENSEMBL:ENSG00000189057	FAM111 trypsin like peptidase B
+ORPHANET:221046	Poikiloderma with neutropenia	ENSEMBL:ENSG00000103005	U6 snRNA biogenesis phosphodiesterase 1
+ORPHANET:745	Severe hereditary thrombophilia due to congenital protein C deficiency	ENSEMBL:ENSG00000115718	protein C, inactivator of coagulation factors Va and VIIIa
+ORPHANET:225123	Hemochromatosis type 3	ENSEMBL:ENSG00000106327	transferrin receptor 2
+ORPHANET:221126	Fowler vasculopathy	ENSEMBL:ENSG00000119686	FLVCR heme transporter 2
+ORPHANET:228003	Severe combined immunodeficiency due to CORO1A deficiency	ENSEMBL:ENSG00000102879	coronin 1A
+ORPHANET:228000	Idiopathic CD4 lymphocytopenia	ENSEMBL:ENSG00000109103	unc-119 lipid binding chaperone
+ORPHANET:842	Testicular seminomatous germ cell tumor	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:227976	Autosomal recessive optic atrophy, OPA7 type	ENSEMBL:ENSG00000171202	transmembrane protein 126A
+ORPHANET:228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	ENSEMBL:ENSG00000196586	myosin VI
+ORPHANET:543	Burkitt lymphoma	ENSEMBL:ENSG00000136997	MYC proto-oncogene, bHLH transcription factor
+ORPHANET:227510	Multiple system atrophy, cerebellar type	ENSEMBL:ENSG00000173085	coenzyme Q2, polyprenyltransferase
+ORPHANET:419	Hyperprolinemia type 1	ENSEMBL:ENSG00000100033	proline dehydrogenase 1
+ORPHANET:226316	Genetic transient congenital hypothyroidism	ENSEMBL:ENSG00000140279	dual oxidase 2
+ORPHANET:503	Larsen syndrome	ENSEMBL:ENSG00000136068	filamin B
+ORPHANET:228423	Monocytopenia with susceptibility to infections	ENSEMBL:ENSG00000179348	GATA binding protein 2
+ORPHANET:228415	5q35 microduplication syndrome	ENSEMBL:ENSG00000165671	nuclear receptor binding SET domain protein 1
+ORPHANET:132	Butyrylcholinesterase deficiency	ENSEMBL:ENSG00000114200	butyrylcholinesterase
+ORPHANET:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	ENSEMBL:ENSG00000078747	itchy E3 ubiquitin protein ligase
+ORPHANET:228387	Spondylo-megaepiphyseal-metaphyseal dysplasia	ENSEMBL:ENSG00000109705	NK3 homeobox 2
+ORPHANET:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	ENSEMBL:ENSG00000052850	ALX homeobox 4
+ORPHANET:228402	2q23.1 microdeletion syndrome	ENSEMBL:ENSG00000204406	methyl-CpG binding domain protein 5
+ORPHANET:228366	CLN7 disease	ENSEMBL:ENSG00000164073	major facilitator superfamily domain containing 8
+ORPHANET:228363	CLN6 disease	ENSEMBL:ENSG00000128973	CLN6 transmembrane ER protein
+ORPHANET:228360	CLN5 disease	ENSEMBL:ENSG00000102805	CLN5 intracellular trafficking protein
+ORPHANET:228384	5q14.3 microdeletion syndrome	ENSEMBL:ENSG00000081189	myocyte enhancer factor 2C
+ORPHANET:228374	Charcot-Marie-Tooth disease type 2B5	ENSEMBL:ENSG00000277586	neurofilament light chain
+ORPHANET:228340	CLN4A disease	ENSEMBL:ENSG00000128973	CLN6 transmembrane ER protein
+ORPHANET:228337	CLN10 disease	ENSEMBL:ENSG00000117984	cathepsin D
+ORPHANET:228329	CLN1 disease	ENSEMBL:ENSG00000131238	palmitoyl-protein thioesterase 1
+ORPHANET:228354	CLN8 disease	ENSEMBL:ENSG00000182372	CLN8 transmembrane ER and ERGIC protein
+ORPHANET:228349	CLN2 disease	ENSEMBL:ENSG00000166340	tripeptidyl peptidase 1
+ORPHANET:228346	CLN3 disease	ENSEMBL:ENSG00000188603	CLN3 lysosomal/endosomal transmembrane protein, battenin
+ORPHANET:228343	CLN4B disease	ENSEMBL:ENSG00000101152	DnaJ heat shock protein family (Hsp40) member C5
+ORPHANET:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	ENSEMBL:ENSG00000157184	carnitine palmitoyltransferase 2
+ORPHANET:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	ENSEMBL:ENSG00000157184	carnitine palmitoyltransferase 2
+ORPHANET:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	ENSEMBL:ENSG00000157184	carnitine palmitoyltransferase 2
+ORPHANET:3203	Overhydrated hereditary stomatocytosis	ENSEMBL:ENSG00000112077	Rh associated glycoprotein
+ORPHANET:328	Congenital factor X deficiency	ENSEMBL:ENSG00000126218	coagulation factor X
+ORPHANET:228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N	ENSEMBL:ENSG00000090861	alanyl-tRNA synthetase 1
+ORPHANET:228169	Autosomal dominant striatal neurodegeneration	ENSEMBL:ENSG00000113231	phosphodiesterase 8B
+ORPHANET:2132	Hemoglobin C disease	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:2133	Hemoglobin E disease	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M	ENSEMBL:ENSG00000079805	dynamin 2
+ORPHANET:751	NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency	ENSEMBL:ENSG00000100299	arylsulfatase A
+ORPHANET:231401	Alpha-thalassemia-myelodysplastic syndrome	ENSEMBL:ENSG00000085224	ATRX chromatin remodeler
+ORPHANET:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	ENSEMBL:ENSG00000102145	GATA binding protein 1
+ORPHANET:1309	Medullary sponge kidney	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:231249	Hemoglobin E-beta-thalassemia syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:231242	Hemoglobin C-beta-thalassemia syndrome	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:2197	Idiopathic hypercalciuria	ENSEMBL:ENSG00000143199	adenylate cyclase 10
+ORPHANET:231226	Dominant beta-thalassemia	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:231222	Beta-thalassemia intermedia	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:231214	Beta-thalassemia major	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:2841	Familial benign chronic pemphigus	ENSEMBL:ENSG00000017260	ATPase secretory pathway Ca2+ transporting 1
+ORPHANET:347	Frasier syndrome	ENSEMBL:ENSG00000184937	WT1 transcription factor
+ORPHANET:231154	Combined immunodeficiency due to partial RAG1 deficiency	ENSEMBL:ENSG00000166349	recombination activating 1
+ORPHANET:2596	Myopathy and diabetes mellitus	ENSEMBL:ENSG00000210194	mitochondrially encoded tRNA-Glu (GAA/G)
+ORPHANET:2966	Properdin deficiency	ENSEMBL:ENSG00000126759	complement factor properdin
+ORPHANET:231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation	ENSEMBL:ENSG00000129757	cyclin dependent kinase inhibitor 1C
+ORPHANET:231127	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	ENSEMBL:ENSG00000130600	H19 imprinted maternally expressed transcript
+ORPHANET:231040	Familial generalized lentiginosis	ENSEMBL:ENSG00000111961	SAM and SH3 domain containing 1
+ORPHANET:230851	Cardiac-valvular Ehlers-Danlos syndrome	ENSEMBL:ENSG00000164692	collagen type I alpha 2 chain
+ORPHANET:82	Hereditary thrombophilia due to congenital antithrombin deficiency	ENSEMBL:ENSG00000117601	serpin family C member 1
+ORPHANET:230839	Classical-like Ehlers-Danlos syndrome type 1	ENSEMBL:ENSG00000168477	tenascin XB
+ORPHANET:238269	AApoAII amyloidosis	ENSEMBL:ENSG00000158874	apolipoprotein A2
+ORPHANET:238446	15q11q13 microduplication syndrome	ENSEMBL:ENSG00000114062	ubiquitin protein ligase E3A
+ORPHANET:238329	Severe X-linked mitochondrial encephalomyopathy	ENSEMBL:ENSG00000156709	apoptosis inducing factor mitochondria associated 1
+ORPHANET:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	ENSEMBL:ENSG00000083444	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
+ORPHANET:286	Vascular Ehlers-Danlos syndrome	ENSEMBL:ENSG00000168542	collagen type III alpha 1 chain
+ORPHANET:257	Epidermolysis bullosa simplex with muscular dystrophy	ENSEMBL:ENSG00000178209	plectin
+ORPHANET:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	ENSEMBL:ENSG00000107187	LIM homeobox 3
+ORPHANET:839	Congenital nephrotic syndrome, Finnish type	ENSEMBL:ENSG00000161270	NPHS1 adhesion molecule, nephrin
+ORPHANET:452	X-linked lissencephaly with abnormal genitalia	ENSEMBL:ENSG00000004848	aristaless related homeobox
+ORPHANET:238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	ENSEMBL:ENSG00000119681	latent transforming growth factor beta binding protein 2
+ORPHANET:238769	1q44 microdeletion syndrome	ENSEMBL:ENSG00000153187	heterogeneous nuclear ribonucleoprotein U
+ORPHANET:238505	Combined immunodeficiency due to CD27 deficiency	ENSEMBL:ENSG00000139193	CD27 molecule
+ORPHANET:238455	Infantile dystonia-parkinsonism	ENSEMBL:ENSG00000142319	solute carrier family 6 member 3
+ORPHANET:238459	SLC35A1-CDG	ENSEMBL:ENSG00000164414	solute carrier family 35 member A1
+ORPHANET:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	ENSEMBL:ENSG00000121075	T-box transcription factor 4
+ORPHANET:238557	Chuvash erythrocytosis	ENSEMBL:ENSG00000134086	von Hippel-Lindau tumor suppressor
+ORPHANET:238613	Beckwith-Wiedemann syndrome due to NSD1 mutation	ENSEMBL:ENSG00000165671	nuclear receptor binding SET domain protein 1
+ORPHANET:238670	Isolated thyrotropin-releasing hormone deficiency	ENSEMBL:ENSG00000170893	thyrotropin releasing hormone
+ORPHANET:240071	Classic progressive supranuclear palsy syndrome	ENSEMBL:ENSG00000186868	microtubule associated protein tau
+ORPHANET:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	ENSEMBL:ENSG00000186868	microtubule associated protein tau
+ORPHANET:240103	Progressive supranuclear palsy-corticobasal syndrome	ENSEMBL:ENSG00000186868	microtubule associated protein tau
+ORPHANET:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	ENSEMBL:ENSG00000186868	microtubule associated protein tau
+ORPHANET:240085	Progressive supranuclear palsy-parkinsonism syndrome	ENSEMBL:ENSG00000186868	microtubule associated protein tau
+ORPHANET:331226	Susceptibility to infection due to TYK2 deficiency	ENSEMBL:ENSG00000105397	tyrosine kinase 2
+ORPHANET:331176	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	ENSEMBL:ENSG00000141349	glucose-6-phosphatase catalytic subunit 3
+ORPHANET:331187	Immunodeficiency due to MASP-2 deficiency	ENSEMBL:ENSG00000009724	MBL associated serine protease 2
+ORPHANET:331190	Immunodeficiency due to ficolin3 deficiency	ENSEMBL:ENSG00000142748	ficolin 3
+ORPHANET:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	ENSEMBL:ENSG00000087470	dynamin 1 like
+ORPHANET:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	ENSEMBL:ENSG00000127554	growth factor, augmenter of liver regeneration
+ORPHANET:329802	5p13 microduplication syndrome	ENSEMBL:ENSG00000164190	NIPBL cohesin loading factor
+ORPHANET:329475	Spastic paraplegia-Paget disease of bone syndrome	ENSEMBL:ENSG00000165280	valosin containing protein
+ORPHANET:329481	Lipoprotein glomerulopathy	ENSEMBL:ENSG00000130203	apolipoprotein E
+ORPHANET:329478	Adult-onset distal myopathy due to VCP mutation	ENSEMBL:ENSG00000165280	valosin containing protein
+ORPHANET:329308	Fatty acid hydroxylase-associated neurodegeneration	ENSEMBL:ENSG00000103089	fatty acid 2-hydroxylase
+ORPHANET:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	ENSEMBL:ENSG00000114956	deoxyguanosine kinase
+ORPHANET:329319	Thrombocythemia with distal limb defects	ENSEMBL:ENSG00000090534	thrombopoietin
+ORPHANET:329284	Beta-propeller protein-associated neurodegeneration	ENSEMBL:ENSG00000196998	WD repeat domain 45
+ORPHANET:329457	Distal arthrogryposis type 5D	ENSEMBL:ENSG00000171551	endothelin converting enzyme like 1
+ORPHANET:329466	Autosomal dominant focal dystonia, DYT25 type	ENSEMBL:ENSG00000141404	G protein subunit alpha L
+ORPHANET:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	ENSEMBL:ENSG00000198026	zinc finger protein 335
+ORPHANET:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	ENSEMBL:ENSG00000175115	phosphofurin acidic cluster sorting protein 1
+ORPHANET:329211	Autosomal dominant neovascular inflammatory vitreoretinopathy	ENSEMBL:ENSG00000149260	calpain 5
+ORPHANET:329195	Developmental delay with autism spectrum disorder and gait instability	ENSEMBL:ENSG00000128731	HECT and RLD domain containing E3 ubiquitin protein ligase 2
+ORPHANET:329191	Tall stature-long halluces-multiple extra-epiphyses syndrome	ENSEMBL:ENSG00000159899	natriuretic peptide receptor 2
+ORPHANET:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	ENSEMBL:ENSG00000136908	dolichyl-phosphate mannosyltransferase subunit 2, regulatory
+ORPHANET:329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	ENSEMBL:ENSG00000181192	dehydrogenase E1 and transketolase domain containing 1
+ORPHANET:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	ENSEMBL:ENSG00000178188	SH2B adaptor protein 1
+ORPHANET:329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement	ENSEMBL:ENSG00000147255	immunoglobulin superfamily member 1
+ORPHANET:329	Congenital factor XI deficiency	ENSEMBL:ENSG00000088926	coagulation factor XI
+ORPHANET:1243	Best vitelliform macular dystrophy	ENSEMBL:ENSG00000167995	bestrophin 1
+ORPHANET:325524	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	ENSEMBL:ENSG00000147465	steroidogenic acute regulatory protein
+ORPHANET:325448	Leydig cell hypoplasia due to LHB deficiency	ENSEMBL:ENSG00000104826	luteinizing hormone subunit beta
+ORPHANET:325529	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	ENSEMBL:ENSG00000147465	steroidogenic acute regulatory protein
+ORPHANET:324977	Proteasome-associated autoinflammatory syndrome	ENSEMBL:ENSG00000204264	proteasome 20S subunit beta 8
+ORPHANET:324718	ABetaA21G amyloidosis	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:324713	ABeta amyloidosis, Italian type	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:324737	SRD5A3-CDG	ENSEMBL:ENSG00000128039	steroid 5 alpha-reductase 3
+ORPHANET:324723	ABeta amyloidosis, Arctic type	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:324708	ABeta amyloidosis, Iowa type	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:324703	ABetaL34V amyloidosis	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	ENSEMBL:ENSG00000155980	kinesin family member 5A
+ORPHANET:324588	Familial dyskinesia and facial myokymia	ENSEMBL:ENSG00000173175	adenylate cyclase 5
+ORPHANET:324601	X-linked cleft palate and ankyloglossia	ENSEMBL:ENSG00000122145	T-box transcription factor 22
+ORPHANET:324581	Benign Samaritan congenital myopathy	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	ENSEMBL:ENSG00000158887	myelin protein zero
+ORPHANET:324569	Pontocerebellar hypoplasia type 8	ENSEMBL:ENSG00000131165	charged multivesicular body protein 1A
+ORPHANET:324575	Hyperinsulinism due to HNF1A deficiency	ENSEMBL:ENSG00000135100	HNF1 homeobox A
+ORPHANET:324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome	ENSEMBL:ENSG00000197594	ectonucleotide pyrophosphatase/phosphodiesterase 1
+ORPHANET:324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	ENSEMBL:ENSG00000197943	phospholipase C gamma 2
+ORPHANET:324535	Combined oxidative phosphorylation defect type 11	ENSEMBL:ENSG00000155906	required for meiotic nuclear division 1 homolog
+ORPHANET:324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation	ENSEMBL:ENSG00000209082	mitochondrially encoded tRNA-Leu (UUA/G) 1
+ORPHANET:324442	Autosomal recessive axonal neuropathy with neuromyotonia	ENSEMBL:ENSG00000169567	histidine triad nucleotide binding protein 1
+ORPHANET:324422	ALG13-CDG	ENSEMBL:ENSG00000101901	ALG13 UDP-N-acetylglucosaminyltransferase subunit
+ORPHANET:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	ENSEMBL:ENSG00000155962	chloride intracellular channel 2
+ORPHANET:324321	Sinoatrial node dysfunction and deafness	ENSEMBL:ENSG00000157388	calcium voltage-gated channel subunit alpha1 D
+ORPHANET:324299	Multiple paragangliomas associated with polycythemia	ENSEMBL:ENSG00000116016	endothelial PAS domain protein 1
+ORPHANET:324294	T-cell immunodeficiency with epidermodysplasia verruciformis	ENSEMBL:ENSG00000168421	ras homolog family member H
+ORPHANET:324290	Early-onset Lafora body disease	ENSEMBL:ENSG00000152784	PR/SET domain 8
+ORPHANET:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	ENSEMBL:ENSG00000152822	glutamate metabotropic receptor 1
+ORPHANET:319691	NON RARE IN EUROPE: Partial color blindness, protan type	ENSEMBL:ENSG00000102076	opsin 1, long wave sensitive
+ORPHANET:319698	NON RARE IN EUROPE: Partial color blindness, deutan type	ENSEMBL:ENSG00000268221	opsin 1, medium wave sensitive
+ORPHANET:319705	NON RARE IN EUROPE: Parkinson disease	ENSEMBL:ENSG00000177628	glucosylceramidase beta 1
+ORPHANET:320360	MT-ATP6-related mitochondrial spastic paraplegia	ENSEMBL:ENSG00000198899	mitochondrially encoded ATP synthase membrane subunit 6
+ORPHANET:320370	Autosomal recessive spastic paraplegia type 43	ENSEMBL:ENSG00000131943	chromosome 19 open reading frame 12
+ORPHANET:320380	Autosomal recessive spastic paraplegia type 54	ENSEMBL:ENSG00000085788	DDHD domain containing 2
+ORPHANET:320375	Autosomal recessive spastic paraplegia type 55	ENSEMBL:ENSG00000130921	mitochondrial translation release factor in rescue
+ORPHANET:320391	Autosomal recessive spastic paraplegia type 46	ENSEMBL:ENSG00000070610	glucosylceramidase beta 2
+ORPHANET:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	ENSEMBL:ENSG00000196663	tectonin beta-propeller repeat containing 2
+ORPHANET:320401	Autosomal recessive spastic paraplegia type 44	ENSEMBL:ENSG00000198835	gap junction protein gamma 2
+ORPHANET:320396	Autosomal recessive spastic paraplegia type 45	ENSEMBL:ENSG00000076685	5'-nucleotidase, cytosolic II
+ORPHANET:320411	Autosomal recessive spastic paraplegia type 56	ENSEMBL:ENSG00000155016	cytochrome P450 family 2 subfamily U member 1
+ORPHANET:319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	ENSEMBL:ENSG00000159128	interferon gamma receptor 2
+ORPHANET:319519	Combined oxidative phosphorylation defect type 14	ENSEMBL:ENSG00000145982	phenylalanyl-tRNA synthetase 2, mitochondrial
+ORPHANET:319524	Combined oxidative phosphorylation defect type 15	ENSEMBL:ENSG00000103707	mitochondrial methionyl-tRNA formyltransferase
+ORPHANET:319509	Combined oxidative phosphorylation defect type 9	ENSEMBL:ENSG00000114686	mitochondrial ribosomal protein L3
+ORPHANET:319514	Combined oxidative phosphorylation defect type 13	ENSEMBL:ENSG00000138035	polyribonucleotide nucleotidyltransferase 1
+ORPHANET:319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	ENSEMBL:ENSG00000159128	interferon gamma receptor 2
+ORPHANET:319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	ENSEMBL:ENSG00000115415	signal transducer and activator of transcription 1
+ORPHANET:319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	ENSEMBL:ENSG00000159128	interferon gamma receptor 2
+ORPHANET:319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	ENSEMBL:ENSG00000027697	interferon gamma receptor 1
+ORPHANET:319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	ENSEMBL:ENSG00000187608	ISG15 ubiquitin like modifier
+ORPHANET:319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	ENSEMBL:ENSG00000027697	interferon gamma receptor 1
+ORPHANET:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	ENSEMBL:ENSG00000096996	interleukin 12 receptor subunit beta 1
+ORPHANET:319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	ENSEMBL:ENSG00000113302	interleukin 12B
+ORPHANET:319651	Constitutional megaloblastic anemia with severe neurologic disease	ENSEMBL:ENSG00000228716	dihydrofolate reductase
+ORPHANET:319646	PGM1-CDG	ENSEMBL:ENSG00000079739	phosphoglucomutase 1
+ORPHANET:319640	Retinal macular dystrophy type 2	ENSEMBL:ENSG00000007062	prominin 1
+ORPHANET:319635	Amyloidosis cutis dyschromia	ENSEMBL:ENSG00000136235	glycoprotein nmb
+ORPHANET:319623	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	ENSEMBL:ENSG00000165168	cytochrome b-245 beta chain
+ORPHANET:319612	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	ENSEMBL:ENSG00000269335	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
+ORPHANET:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	ENSEMBL:ENSG00000140968	interferon regulatory factor 8
+ORPHANET:319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	ENSEMBL:ENSG00000088682	coenzyme Q9
+ORPHANET:319675	Microcephalic primordial dwarfism, Dauber type	ENSEMBL:ENSG00000100503	ninein
+ORPHANET:319671	Alazami syndrome	ENSEMBL:ENSG00000174720	La ribonucleoprotein 7, transcriptional regulator
+ORPHANET:319303	Chromophobe renal cell carcinoma	ENSEMBL:ENSG00000135100	HNF1 homeobox A
+ORPHANET:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita	ENSEMBL:ENSG00000131018	spectrin repeat containing nuclear envelope protein 1
+ORPHANET:319340	Carney complex-trismus-pseudocamptodactyly syndrome	ENSEMBL:ENSG00000133020	myosin heavy chain 8
+ORPHANET:319480	Acute myeloid leukemia with CEBPA somatic mutations	ENSEMBL:ENSG00000245848	CCAAT enhancer binding protein alpha
+ORPHANET:319504	Combined oxidative phosphorylation defect type 8	ENSEMBL:ENSG00000124608	alanyl-tRNA synthetase 2, mitochondrial
+ORPHANET:319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	ENSEMBL:ENSG00000139618	BRCA2 DNA repair associated
+ORPHANET:319199	Autosomal recessive spastic paraplegia type 53	ENSEMBL:ENSG00000155975	VPS37A subunit of ESCRT-I
+ORPHANET:319160	Congenital myopathy with internal nuclei and atypical cores	ENSEMBL:ENSG00000162004	coiled-coil domain containing 78
+ORPHANET:319189	Familial cortical myoclonus	ENSEMBL:ENSG00000140939	nucleolar protein 3
+ORPHANET:319192	Diencephalic-mesencephalic junction dysplasia	ENSEMBL:ENSG00000113555	protocadherin 12
+ORPHANET:319182	Wiedemann-Steiner syndrome	ENSEMBL:ENSG00000118058	lysine methyltransferase 2A
+ORPHANET:317428	Combined immunodeficiency due to ORAI1 deficiency	ENSEMBL:ENSG00000276045	ORAI calcium release-activated calcium modulator 1
+ORPHANET:317425	Severe combined immunodeficiency due to DNA-PKcs deficiency	ENSEMBL:ENSG00000253729	protein kinase, DNA-activated, catalytic subunit
+ORPHANET:317430	Combined immunodeficiency due to STIM1 deficiency	ENSEMBL:ENSG00000167323	stromal interaction molecule 1
+ORPHANET:317473	Pancytopenia due to IKZF1 mutations	ENSEMBL:ENSG00000185811	IKAROS family zinc finger 1
+ORPHANET:317476	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	ENSEMBL:ENSG00000102158	magnesium transporter 1
+ORPHANET:315311	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	ENSEMBL:ENSG00000231852	cytochrome P450 family 21 subfamily A member 2
+ORPHANET:315306	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	ENSEMBL:ENSG00000231852	cytochrome P450 family 21 subfamily A member 2
+ORPHANET:314978	X-linked non progressive cerebellar ataxia	ENSEMBL:ENSG00000067842	ATPase plasma membrane Ca2+ transporting 3
+ORPHANET:314918	Mild Canavan disease	ENSEMBL:ENSG00000108381	aspartoacylase
+ORPHANET:314911	Severe Canavan disease	ENSEMBL:ENSG00000108381	aspartoacylase
+ORPHANET:314667	TMEM165-CDG	ENSEMBL:ENSG00000134851	transmembrane protein 165
+ORPHANET:314689	Combined immunodeficiency due to STK4 deficiency	ENSEMBL:ENSG00000101109	serine/threonine kinase 4
+ORPHANET:314652	Variant ABeta2M amyloidosis	ENSEMBL:ENSG00000166710	beta-2-microglobulin
+ORPHANET:314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	ENSEMBL:ENSG00000185129	purine rich element binding protein A
+ORPHANET:314629	CLN11 disease	ENSEMBL:ENSG00000030582	granulin precursor
+ORPHANET:314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	ENSEMBL:ENSG00000135297	mitochondrial tRNA translation optimization 1
+ORPHANET:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	ENSEMBL:ENSG00000159363	ATPase cation transporting 13A2
+ORPHANET:314802	Short stature due to partial GHR deficiency	ENSEMBL:ENSG00000112964	growth hormone receptor
+ORPHANET:314811	Short stature due to GHSR deficiency	ENSEMBL:ENSG00000121853	growth hormone secretagogue receptor
+ORPHANET:314795	SHOX-related short stature	ENSEMBL:ENSG00000185960	short stature homeobox
+ORPHANET:314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency	ENSEMBL:ENSG00000172638	EGF containing fibulin extracellular matrix protein 2
+ORPHANET:314721	Atypical dentin dysplasia due to SMOC2 deficiency	ENSEMBL:ENSG00000112562	SPARC related modular calcium binding 2
+ORPHANET:370109	Ataxia-telangiectasia variant	ENSEMBL:ENSG00000149311	ATM serine/threonine kinase
+ORPHANET:370097	Oculocutaneous albinism type 6	ENSEMBL:ENSG00000188467	solute carrier family 24 member 5
+ORPHANET:370396	Small cell carcinoma of the ovary	ENSEMBL:ENSG00000127616	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
+ORPHANET:370348	Peripheral primitive neuroectodermal tumor	ENSEMBL:ENSG00000151702	Fli-1 proto-oncogene, ETS transcription factor
+ORPHANET:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	ENSEMBL:ENSG00000101680	laminin subunit alpha 1
+ORPHANET:370088	Acute infantile liver failure-multisystemic involvement syndrome	ENSEMBL:ENSG00000133706	leucyl-tRNA synthetase 1
+ORPHANET:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	ENSEMBL:ENSG00000173402	dystroglycan 1
+ORPHANET:370921	STT3A-CDG	ENSEMBL:ENSG00000134910	STT3 oligosaccharyltransferase complex catalytic subunit A
+ORPHANET:370924	STT3B-CDG	ENSEMBL:ENSG00000163527	STT3 oligosaccharyltransferase complex catalytic subunit B
+ORPHANET:370927	SSR4-CDG	ENSEMBL:ENSG00000180879	signal sequence receptor subunit 4
+ORPHANET:370930	XYLT1-CDG	ENSEMBL:ENSG00000103489	xylosyltransferase 1
+ORPHANET:370933	GM3 synthase deficiency	ENSEMBL:ENSG00000115525	ST3 beta-galactoside alpha-2,3-sialyltransferase 5
+ORPHANET:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	ENSEMBL:ENSG00000117620	solute carrier family 35 member A3
+ORPHANET:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	ENSEMBL:ENSG00000157388	calcium voltage-gated channel subunit alpha1 D
+ORPHANET:369920	Pontocerebellar hypoplasia type 9	ENSEMBL:ENSG00000116337	adenosine monophosphate deaminase 2
+ORPHANET:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	ENSEMBL:ENSG00000185825	B cell receptor associated protein 31
+ORPHANET:369955	Methylmalonic acidemia with homocystinuria, type cblJ	ENSEMBL:ENSG00000119688	ATP binding cassette subfamily D member 4
+ORPHANET:369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	ENSEMBL:ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18
+ORPHANET:369962	Methylmalonic acidemia with homocystinuria, type cblX	ENSEMBL:ENSG00000172534	host cell factor C1
+ORPHANET:370002	Focal palmoplantar keratoderma with joint keratoses	ENSEMBL:ENSG00000134760	desmoglein 1
+ORPHANET:369999	Diffuse palmoplantar keratoderma with painful fissures	ENSEMBL:ENSG00000134760	desmoglein 1
+ORPHANET:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	ENSEMBL:ENSG00000124155	phosphatidylinositol glycan anchor biosynthesis class T
+ORPHANET:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	ENSEMBL:ENSG00000168538	trafficking protein particle complex subunit 11
+ORPHANET:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	ENSEMBL:ENSG00000168538	trafficking protein particle complex subunit 11
+ORPHANET:369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	ENSEMBL:ENSG00000072756	tRNA nucleotidyl transferase 1
+ORPHANET:369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	ENSEMBL:ENSG00000171680	pleckstrin homology and RhoGEF domain containing G5
+ORPHANET:369873	Obesity due to SIM1 deficiency	ENSEMBL:ENSG00000112246	SIM bHLH transcription factor 1
+ORPHANET:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	ENSEMBL:ENSG00000123066	mediator complex subunit 13L
+ORPHANET:369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	ENSEMBL:ENSG00000112234	F-box and leucine rich repeat protein 4
+ORPHANET:369913	Combined oxidative phosphorylation defect type 17	ENSEMBL:ENSG00000006744	elaC ribonuclease Z 2
+ORPHANET:364063	Infantile epileptic-dyskinetic encephalopathy	ENSEMBL:ENSG00000004848	aristaless related homeobox
+ORPHANET:364043	ALK-positive large B-cell lymphoma	ENSEMBL:ENSG00000171094	ALK receptor tyrosine kinase
+ORPHANET:364028	X-linked intellectual disability due to GRIA3 mutations	ENSEMBL:ENSG00000125675	glutamate ionotropic receptor AMPA type subunit 3
+ORPHANET:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	ENSEMBL:ENSG00000175606	transmembrane protein 70
+ORPHANET:363989	Familial benign flecked retina	ENSEMBL:ENSG00000127472	phospholipase A2 group V
+ORPHANET:363981	Charcot-Marie-Tooth disease type 4B3	ENSEMBL:ENSG00000100241	SET binding factor 1
+ORPHANET:363969	Autosomal recessive cerebral atrophy	ENSEMBL:ENSG00000137648	transmembrane serine protease 4
+ORPHANET:363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	ENSEMBL:ENSG00000110395	Cbl proto-oncogene
+ORPHANET:363965	Koolen-De Vries syndrome due to a point mutation	ENSEMBL:ENSG00000120071	KAT8 regulatory NSL complex subunit 1
+ORPHANET:363958	17q21.31 microdeletion syndrome	ENSEMBL:ENSG00000120071	KAT8 regulatory NSL complex subunit 1
+ORPHANET:363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	ENSEMBL:ENSG00000102145	GATA binding protein 1
+ORPHANET:363722	Alexander disease type II	ENSEMBL:ENSG00000131095	glial fibrillary acidic protein
+ORPHANET:363717	Alexander disease type I	ENSEMBL:ENSG00000131095	glial fibrillary acidic protein
+ORPHANET:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	ENSEMBL:ENSG00000196712	neurofibromin 1
+ORPHANET:363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	ENSEMBL:ENSG00000104835	seryl-tRNA synthetase 2, mitochondrial
+ORPHANET:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	ENSEMBL:ENSG00000143614	GATA zinc finger domain containing 2B
+ORPHANET:363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	ENSEMBL:ENSG00000125414	myosin heavy chain 2
+ORPHANET:363417	Temtamy preaxial brachydactyly syndrome	ENSEMBL:ENSG00000131873	chondroitin sulfate synthase 1
+ORPHANET:363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome	ENSEMBL:ENSG00000079805	dynamin 2
+ORPHANET:363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	ENSEMBL:ENSG00000115866	aspartyl-tRNA synthetase 1
+ORPHANET:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	ENSEMBL:ENSG00000152208	glutamate ionotropic receptor delta type subunit 2
+ORPHANET:363424	Multiple mitochondrial dysfunctions syndrome type 3	ENSEMBL:ENSG00000181873	iron-sulfur cluster assembly factor IBA57
+ORPHANET:363396	High myopia-sensorineural deafness syndrome	ENSEMBL:ENSG00000184564	SLIT and NTRK like family member 6
+ORPHANET:363400	Severe neurodegenerative syndrome with lipodystrophy	ENSEMBL:ENSG00000168000	BSCL2 lipid droplet biogenesis associated, seipin
+ORPHANET:363618	LMNA-related cardiocutaneous progeria syndrome	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:363623	GMPPB-related limb-girdle muscular dystrophy R19	ENSEMBL:ENSG00000173540	GDP-mannose pyrophosphorylase B
+ORPHANET:363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	ENSEMBL:ENSG00000062822	DNA polymerase delta 1, catalytic subunit
+ORPHANET:363654	X-linked parkinsonism-spasticity syndrome	ENSEMBL:ENSG00000182220	ATPase H+ transporting accessory protein 2
+ORPHANET:363665	Acroosteolysis-keloid-like lesions-premature aging syndrome	ENSEMBL:ENSG00000113721	platelet derived growth factor receptor beta
+ORPHANET:363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	ENSEMBL:ENSG00000114859	chloride voltage-gated channel 2
+ORPHANET:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	ENSEMBL:ENSG00000128271	adenosine A2a receptor
+ORPHANET:363611	CTCF-related neurodevelopmental disorder	ENSEMBL:ENSG00000102974	CCCTC-binding factor
+ORPHANET:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	ENSEMBL:ENSG00000133103	component of oligomeric golgi complex 6
+ORPHANET:363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	ENSEMBL:ENSG00000107815	twinkle mtDNA helicase
+ORPHANET:363528	Intellectual disability-strabismus syndrome	ENSEMBL:ENSG00000213638	adenosine deaminase tRNA specific 3
+ORPHANET:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	ENSEMBL:ENSG00000131652	THO complex subunit 6
+ORPHANET:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	ENSEMBL:ENSG00000185963	BICD cargo adaptor 2
+ORPHANET:357329	Combined immunodeficiency due to IL21R deficiency	ENSEMBL:ENSG00000103522	interleukin 21 receptor
+ORPHANET:357237	Severe combined immunodeficiency due to CARD11 deficiency	ENSEMBL:ENSG00000198286	caspase recruitment domain family member 11
+ORPHANET:356978	D,L-2-hydroxyglutaric aciduria	ENSEMBL:ENSG00000100075	solute carrier family 25 member 1
+ORPHANET:356961	SLC35A2-CDG	ENSEMBL:ENSG00000102100	solute carrier family 35 member A2
+ORPHANET:357008	Hemolytic uremic syndrome with DGKE deficiency	ENSEMBL:ENSG00000153933	diacylglycerol kinase epsilon
+ORPHANET:356996	ANK3-related intellectual disability-sleep disturbance syndrome	ENSEMBL:ENSG00000151150	ankyrin 3
+ORPHANET:357043	Amyotrophic lateral sclerosis type 4	ENSEMBL:ENSG00000107290	senataxin
+ORPHANET:357064	Autosomal recessive cutis laxa type 2B	ENSEMBL:ENSG00000183010	pyrroline-5-carboxylate reductase 1
+ORPHANET:352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	ENSEMBL:ENSG00000154277	ubiquitin C-terminal hydrolase L1
+ORPHANET:352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	ENSEMBL:ENSG00000091592	NLR family pyrin domain containing 1
+ORPHANET:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	ENSEMBL:ENSG00000070610	glucosylceramidase beta 2
+ORPHANET:352649	Brain dopamine-serotonin vesicular transport disease	ENSEMBL:ENSG00000165646	solute carrier family 18 member A2
+ORPHANET:352596	Progressive myoclonic epilepsy with dystonia	ENSEMBL:ENSG00000162065	TBC1 domain family member 24
+ORPHANET:352577	Bainbridge-Ropers syndrome	ENSEMBL:ENSG00000141431	ASXL transcriptional regulator 3
+ORPHANET:352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	ENSEMBL:ENSG00000162065	TBC1 domain family member 24
+ORPHANET:352734	Minimal pigment oculocutaneous albinism type 1	ENSEMBL:ENSG00000077498	tyrosinase
+ORPHANET:352737	Temperature-sensitive oculocutaneous albinism type 1	ENSEMBL:ENSG00000077498	tyrosinase
+ORPHANET:352709	CLN13 disease	ENSEMBL:ENSG00000174080	cathepsin F
+ORPHANET:352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	ENSEMBL:ENSG00000177084	DNA polymerase epsilon, catalytic subunit
+ORPHANET:352718	Progressive retinal dystrophy due to retinol transport defect	ENSEMBL:ENSG00000138207	retinol binding protein 4
+ORPHANET:352723	Attenuated Chédiak-Higashi syndrome	ENSEMBL:ENSG00000143669	lysosomal trafficking regulator
+ORPHANET:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	ENSEMBL:ENSG00000165119	heterogeneous nuclear ribonucleoprotein K
+ORPHANET:352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	ENSEMBL:ENSG00000114450	G protein subunit beta 4
+ORPHANET:352675	X-linked Charcot-Marie-Tooth disease type 6	ENSEMBL:ENSG00000067992	pyruvate dehydrogenase kinase 3
+ORPHANET:352682	Cobblestone lissencephaly without muscular or ocular involvement	ENSEMBL:ENSG00000091136	laminin subunit beta 1
+ORPHANET:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	ENSEMBL:ENSG00000005339	CREB binding protein
+ORPHANET:353217	Epileptic encephalopathy with global cerebral demyelination	ENSEMBL:ENSG00000115840	solute carrier family 25 member 12
+ORPHANET:352745	Oculocutaneous albinism type 7	ENSEMBL:ENSG00000148655	leucine rich melanocyte differentiation associated
+ORPHANET:353320	Pyruvate carboxylase deficiency, benign type	ENSEMBL:ENSG00000173599	pyruvate carboxylase
+ORPHANET:353308	Pyruvate carboxylase deficiency, infantile type	ENSEMBL:ENSG00000173599	pyruvate carboxylase
+ORPHANET:353314	Pyruvate carboxylase deficiency, severe neonatal type	ENSEMBL:ENSG00000173599	pyruvate carboxylase
+ORPHANET:353298	Roifman syndrome	ENSEMBL:ENSG00000264229	RNA, U4atac small nuclear (U12-dependent splicing)
+ORPHANET:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	ENSEMBL:ENSG00000005339	CREB binding protein
+ORPHANET:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	ENSEMBL:ENSG00000100393	E1A binding protein p300
+ORPHANET:352403	Spectrin-associated autosomal recessive cerebellar ataxia	ENSEMBL:ENSG00000173898	spectrin beta, non-erythrocytic 2
+ORPHANET:352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	ENSEMBL:ENSG00000118402	ELOVL fatty acid elongase 4
+ORPHANET:352328	MEGDEL syndrome	ENSEMBL:ENSG00000122335	serine active site containing 1
+ORPHANET:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	ENSEMBL:ENSG00000125871	mitochondrial genome maintenance exonuclease 1
+ORPHANET:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	ENSEMBL:ENSG00000167632	trafficking protein particle complex subunit 9
+ORPHANET:352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	ENSEMBL:ENSG00000135900	mitochondrial ribosomal protein L44
+ORPHANET:352479	ISPD-related limb-girdle muscular dystrophy R20	ENSEMBL:ENSG00000214960	CDP-L-ribitol pyrophosphorylase A
+ORPHANET:352470	DNA2-related mitochondrial DNA deletion syndrome	ENSEMBL:ENSG00000138346	DNA replication helicase/nuclease 2
+ORPHANET:352490	Autism spectrum disorder due to AUTS2 deficiency	ENSEMBL:ENSG00000158321	activator of transcription and developmental regulator AUTS2
+ORPHANET:294016	Microcephaly-capillary malformation syndrome	ENSEMBL:ENSG00000124356	STAM binding protein
+ORPHANET:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	ENSEMBL:ENSG00000105221	AKT serine/threonine kinase 2
+ORPHANET:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	ENSEMBL:ENSG00000077150	nuclear factor kappa B subunit 2
+ORPHANET:293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	ENSEMBL:ENSG00000196511	thiamin pyrophosphokinase 1
+ORPHANET:293948	1p21.3 microdeletion syndrome	ENSEMBL:ENSG00000188641	dihydropyrimidine dehydrogenase
+ORPHANET:293936	EDICT syndrome	ENSEMBL:ENSG00000207695	microRNA 184
+ORPHANET:293925	Lethal occipital encephalocele-skeletal dysplasia syndrome	ENSEMBL:ENSG00000003137	cytochrome P450 family 26 subfamily B member 1
+ORPHANET:293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	ENSEMBL:ENSG00000185002	regulatory factor X6
+ORPHANET:293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome	ENSEMBL:ENSG00000187098	melanocyte inducing transcription factor
+ORPHANET:293825	Congenital dyserythropoietic anemia type IV	ENSEMBL:ENSG00000105610	KLF transcription factor 1
+ORPHANET:293707	Blepharophimosis-intellectual disability syndrome, MKB type	ENSEMBL:ENSG00000184634	mediator complex subunit 12
+ORPHANET:293633	PYCR1-related De Barsy syndrome	ENSEMBL:ENSG00000183010	pyrroline-5-carboxylate reductase 1
+ORPHANET:289891	Hypermethioninemia due to glycine N-methyltransferase deficiency	ENSEMBL:ENSG00000124713	glycine N-methyltransferase
+ORPHANET:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	ENSEMBL:ENSG00000146085	methylmalonyl-CoA mutase
+ORPHANET:289846	Glutathione synthetase deficiency with 5-oxoprolinuria	ENSEMBL:ENSG00000100983	glutathione synthetase
+ORPHANET:289849	Glutathione synthetase deficiency without 5-oxoprolinuria	ENSEMBL:ENSG00000100983	glutathione synthetase
+ORPHANET:289560	Mitochondrial membrane protein-associated neurodegeneration	ENSEMBL:ENSG00000131943	chromosome 19 open reading frame 12
+ORPHANET:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	ENSEMBL:ENSG00000140459	cytochrome P450 family 11 subfamily A member 1
+ORPHANET:289539	BAP1-related tumor predisposition syndrome	ENSEMBL:ENSG00000163930	BRCA1 associated protein 1
+ORPHANET:289601	Hereditary arterial and articular multiple calcification syndrome	ENSEMBL:ENSG00000135318	5'-nucleotidase ecto
+ORPHANET:293381	Epithelial recurrent erosion dystrophy	ENSEMBL:ENSG00000065618	collagen type XVII alpha 1 chain
+ORPHANET:293603	Congenital hereditary endothelial dystrophy type II	ENSEMBL:ENSG00000088836	solute carrier family 4 member 11
+ORPHANET:293150	Familial clubfoot due to PITX1 point mutation	ENSEMBL:ENSG00000069011	paired like homeodomain 1
+ORPHANET:741	Familial mitral valve prolapse	ENSEMBL:ENSG00000166341	dachsous cadherin-related 1
+ORPHANET:293144	Familial clubfoot due to 5q31 microdeletion	ENSEMBL:ENSG00000069011	paired like homeodomain 1
+ORPHANET:293168	Infantile-onset ascending hereditary spastic paralysis	ENSEMBL:ENSG00000003393	alsin Rho guanine nucleotide exchange factor ALS2
+ORPHANET:293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	ENSEMBL:ENSG00000096696	desmoplakin
+ORPHANET:293284	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	ENSEMBL:ENSG00000171759	phenylalanine hydroxylase
+ORPHANET:2394	Pyruvate dehydrogenase E3 deficiency	ENSEMBL:ENSG00000091140	dihydrolipoamide dehydrogenase
+ORPHANET:2686	Cyclic neutropenia	ENSEMBL:ENSG00000197561	elastase, neutrophil expressed
+ORPHANET:284414	Glycerol kinase deficiency, adult form	ENSEMBL:ENSG00000198814	glycerol kinase
+ORPHANET:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	ENSEMBL:ENSG00000135069	phosphoserine aminotransferase 1
+ORPHANET:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	ENSEMBL:ENSG00000134333	lactate dehydrogenase A
+ORPHANET:284435	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	ENSEMBL:ENSG00000111716	lactate dehydrogenase B
+ORPHANET:284973	Marfan syndrome type 2	ENSEMBL:ENSG00000163513	transforming growth factor beta receptor 2
+ORPHANET:284963	Marfan syndrome type 1	ENSEMBL:ENSG00000166147	fibrillin 1
+ORPHANET:284984	Aneurysm-osteoarthritis syndrome	ENSEMBL:ENSG00000166949	SMAD family member 3
+ORPHANET:284979	Neonatal Marfan syndrome	ENSEMBL:ENSG00000166147	fibrillin 1
+ORPHANET:289377	Early-onset myopathy with fatal cardiomyopathy	ENSEMBL:ENSG00000155657	titin
+ORPHANET:289380	Myosclerosis	ENSEMBL:ENSG00000142173	collagen type VI alpha 2 chain
+ORPHANET:289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	ENSEMBL:ENSG00000156110	adenosine kinase
+ORPHANET:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	ENSEMBL:ENSG00000183454	glutamate ionotropic receptor NMDA type subunit 2A
+ORPHANET:289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	ENSEMBL:ENSG00000119711	aldehyde dehydrogenase 6 family member A1
+ORPHANET:289504	Combined malonic and methylmalonic acidemia	ENSEMBL:ENSG00000176715	acyl-CoA synthetase family member 3
+ORPHANET:289513	12q15q21.1 microdeletion syndrome	ENSEMBL:ENSG00000111596	CCR4-NOT transcription complex subunit 2
+ORPHANET:289465	Isolated congenital adermatoglyphia	ENSEMBL:ENSG00000163104	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
+ORPHANET:281090	Syndromic recessive X-linked ichthyosis	ENSEMBL:ENSG00000101846	steroid sulfatase
+ORPHANET:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	ENSEMBL:ENSG00000132963	proteasome maturation protein
+ORPHANET:281127	Acral self-healing collodion baby	ENSEMBL:ENSG00000092295	transglutaminase 1
+ORPHANET:280628	Familial progressive hyper- and hypopigmentation	ENSEMBL:ENSG00000049130	KIT ligand
+ORPHANET:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	ENSEMBL:ENSG00000197563	phosphatidylinositol glycan anchor biosynthesis class N
+ORPHANET:280615	Hemoglobinopathy Toms River	ENSEMBL:ENSG00000196565	hemoglobin subunit gamma 2
+ORPHANET:280598	Hereditary sensorimotor neuropathy with hyperelastic skin	ENSEMBL:ENSG00000140092	fibulin 5
+ORPHANET:280620	Progressive myoclonic epilepsy type 6	ENSEMBL:ENSG00000108433	golgi SNAP receptor complex member 2
+ORPHANET:280671	Megaconial congenital muscular dystrophy	ENSEMBL:ENSG00000100288	choline kinase beta
+ORPHANET:280640	Occipital pachygyria and polymicrogyria	ENSEMBL:ENSG00000050555	laminin subunit gamma 3
+ORPHANET:280654	Autosomal recessive nail dysplasia	ENSEMBL:ENSG00000164930	frizzled class receptor 6
+ORPHANET:280785	Bullous diffuse cutaneous mastocytosis	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	ENSEMBL:ENSG00000185515	BRCA1/BRCA2-containing complex subunit 3
+ORPHANET:284149	Craniosynostosis-dental anomalies	ENSEMBL:ENSG00000137070	interleukin 11 receptor subunit alpha
+ORPHANET:284139	Larsen-like syndrome, B3GAT3 type	ENSEMBL:ENSG00000149541	beta-1,3-glucuronyltransferase 3
+ORPHANET:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	ENSEMBL:ENSG00000095787	WW domain containing adaptor with coiled-coil
+ORPHANET:284247	Familial retinal arterial macroaneurysm	ENSEMBL:ENSG00000163453	insulin like growth factor binding protein 7
+ORPHANET:284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O	ENSEMBL:ENSG00000197102	dynein cytoplasmic 1 heavy chain 1
+ORPHANET:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	ENSEMBL:ENSG00000143469	synaptotagmin 14
+ORPHANET:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	ENSEMBL:ENSG00000166340	tripeptidyl peptidase 1
+ORPHANET:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	ENSEMBL:ENSG00000186153	WW domain containing oxidoreductase
+ORPHANET:284289	Adult-onset autosomal recessive cerebellar ataxia	ENSEMBL:ENSG00000160746	anoctamin 10
+ORPHANET:284343	DICER1 tumor-predisposition syndrome	ENSEMBL:ENSG00000100697	dicer 1, ribonuclease III
+ORPHANET:284411	Glycerol kinase deficiency, juvenile form	ENSEMBL:ENSG00000198814	glycerol kinase
+ORPHANET:282166	Inherited Creutzfeldt-Jakob disease	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:284130	NON RARE IN EUROPE: Rheumatoid arthritis	ENSEMBL:ENSG00000196126	major histocompatibility complex, class II, DR beta 1
+ORPHANET:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	ENSEMBL:ENSG00000196660	solute carrier family 30 member 10
+ORPHANET:309803	Rhizomelic chondrodysplasia punctata type 3	ENSEMBL:ENSG00000018510	alkylglycerone phosphate synthase
+ORPHANET:309789	Rhizomelic chondrodysplasia punctata type 1	ENSEMBL:ENSG00000112357	peroxisomal biogenesis factor 7
+ORPHANET:309796	Rhizomelic chondrodysplasia punctata type 2	ENSEMBL:ENSG00000116906	glyceronephosphate O-acyltransferase
+ORPHANET:314022	Gastric adenocarcinoma and proximal polyposis of the stomach	ENSEMBL:ENSG00000134982	APC regulator of WNT signaling pathway
+ORPHANET:313892	Developmental and speech delay due to SOX5 deficiency	ENSEMBL:ENSG00000134532	SRY-box transcription factor 5
+ORPHANET:313884	12p12.1 microdeletion syndrome	ENSEMBL:ENSG00000134532	SRY-box transcription factor 5
+ORPHANET:313855	FGFR2-related bent bone dysplasia	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:313850	Infantile cerebellar-retinal degeneration	ENSEMBL:ENSG00000100412	aconitase 2
+ORPHANET:313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	ENSEMBL:ENSG00000175054	ATR serine/threonine kinase
+ORPHANET:313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome	ENSEMBL:ENSG00000073331	alpha kinase 1
+ORPHANET:313795	Jawad syndrome	ENSEMBL:ENSG00000101773	RB binding protein 8, endonuclease
+ORPHANET:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	ENSEMBL:ENSG00000141385	AFG3 like matrix AAA peptidase subunit 2
+ORPHANET:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	ENSEMBL:ENSG00000247626	methionyl-tRNA synthetase 2, mitochondrial
+ORPHANET:314597	Chudley-McCullough syndrome	ENSEMBL:ENSG00000121957	G protein signaling modulator 2
+ORPHANET:314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome	ENSEMBL:ENSG00000176842	iroquois homeobox 5
+ORPHANET:314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	ENSEMBL:ENSG00000164087	POC1 centriolar protein A
+ORPHANET:314399	Autosomal dominant aplasia and myelodysplasia	ENSEMBL:ENSG00000174780	signal recognition particle 72
+ORPHANET:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	ENSEMBL:ENSG00000130816	DNA methyltransferase 1
+ORPHANET:314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	ENSEMBL:ENSG00000070019	guanylate cyclase 2C
+ORPHANET:314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	ENSEMBL:ENSG00000070019	guanylate cyclase 2C
+ORPHANET:314381	Hereditary sensory and autonomic neuropathy type 6	ENSEMBL:ENSG00000151914	dystonin
+ORPHANET:314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	ENSEMBL:ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial
+ORPHANET:306674	Kufor-Rakeb syndrome	ENSEMBL:ENSG00000159363	ATPase cation transporting 13A2
+ORPHANET:308380	Methylcobalamin deficiency type cblDv1	ENSEMBL:ENSG00000168288	metabolism of cobalamin associated D
+ORPHANET:308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	ENSEMBL:ENSG00000124615	molybdenum cofactor synthesis 1
+ORPHANET:308393	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	ENSEMBL:ENSG00000164172	molybdenum cofactor synthesis 2
+ORPHANET:308400	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	ENSEMBL:ENSG00000171723	gephyrin
+ORPHANET:308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	ENSEMBL:ENSG00000103507	branched chain keto acid dehydrogenase kinase
+ORPHANET:308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	ENSEMBL:ENSG00000124370	methylmalonyl-CoA epimerase
+ORPHANET:308698	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308712	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308670	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308684	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:309015	Familial lipoprotein lipase deficiency	ENSEMBL:ENSG00000175445	lipoprotein lipase
+ORPHANET:309020	Familial apolipoprotein C-II deficiency	ENSEMBL:ENSG00000234906	apolipoprotein C2
+ORPHANET:308487	Generalized galactose epimerase deficiency	ENSEMBL:ENSG00000117308	UDP-galactose-4-epimerase
+ORPHANET:178	Chordoma	ENSEMBL:ENSG00000164458	T-box transcription factor T
+ORPHANET:308473	Erythrocyte galactose epimerase deficiency	ENSEMBL:ENSG00000117308	UDP-galactose-4-epimerase
+ORPHANET:2637	Microcephalic osteodysplastic primordial dwarfism type II	ENSEMBL:ENSG00000160299	pericentrin
+ORPHANET:308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	ENSEMBL:ENSG00000168288	metabolism of cobalamin associated D
+ORPHANET:308655	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308638	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308621	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	ENSEMBL:ENSG00000114480	1,4-alpha-glucan branching enzyme 1
+ORPHANET:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	ENSEMBL:ENSG00000171298	alpha glucosidase
+ORPHANET:309282	Alpha-mannosidosis, infantile form	ENSEMBL:ENSG00000104774	mannosidase alpha class 2B member 1
+ORPHANET:309288	Alpha-mannosidosis, adult form	ENSEMBL:ENSG00000104774	mannosidase alpha class 2B member 1
+ORPHANET:309246	GM2 gangliosidosis, AB variant	ENSEMBL:ENSG00000196743	ganglioside GM2 activator
+ORPHANET:309252	Atypical Gaucher disease due to saposin C deficiency	ENSEMBL:ENSG00000197746	prosaposin
+ORPHANET:309324	Free sialic acid storage disease, infantile form	ENSEMBL:ENSG00000119899	solute carrier family 17 member 5
+ORPHANET:309331	Intermediate severe Salla disease	ENSEMBL:ENSG00000119899	solute carrier family 17 member 5
+ORPHANET:309334	Salla disease	ENSEMBL:ENSG00000119899	solute carrier family 17 member 5
+ORPHANET:309297	Mucopolysaccharidosis type 4A	ENSEMBL:ENSG00000141012	galactosamine (N-acetyl)-6-sulfatase
+ORPHANET:309310	Mucopolysaccharidosis type 4B	ENSEMBL:ENSG00000170266	galactosidase beta 1
+ORPHANET:309185	Tay-Sachs disease, B variant, juvenile form	ENSEMBL:ENSG00000213614	hexosaminidase subunit alpha
+ORPHANET:309178	Tay-Sachs disease, B variant, infantile form	ENSEMBL:ENSG00000213614	hexosaminidase subunit alpha
+ORPHANET:309239	Tay-Sachs disease, B1 variant	ENSEMBL:ENSG00000213614	hexosaminidase subunit alpha
+ORPHANET:309192	Tay-Sachs disease, B variant, adult form	ENSEMBL:ENSG00000213614	hexosaminidase subunit alpha
+ORPHANET:309155	Sandhoff disease, infantile form	ENSEMBL:ENSG00000049860	hexosaminidase subunit beta
+ORPHANET:309169	Sandhoff disease, adult form	ENSEMBL:ENSG00000049860	hexosaminidase subunit beta
+ORPHANET:309162	Sandhoff disease, juvenile form	ENSEMBL:ENSG00000049860	hexosaminidase subunit beta
+ORPHANET:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ENSEMBL:ENSG00000258947	tubulin beta 3 class III
+ORPHANET:300573	Polymicrogyria due to TUBB2B mutation	ENSEMBL:ENSG00000137285	tubulin beta 2B class IIb
+ORPHANET:300576	Oligodontia-cancer predisposition syndrome	ENSEMBL:ENSG00000168646	axin 2
+ORPHANET:300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	ENSEMBL:ENSG00000165195	phosphatidylinositol glycan anchor biosynthesis class A
+ORPHANET:300525	Pseudohypoaldosteronism type 2D	ENSEMBL:ENSG00000146021	kelch like family member 3
+ORPHANET:300530	Pseudohypoaldosteronism type 2E	ENSEMBL:ENSG00000036257	cullin 3
+ORPHANET:300536	DDOST-CDG	ENSEMBL:ENSG00000244038	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
+ORPHANET:300878	Hairy cell leukemia variant	ENSEMBL:ENSG00000211956	immunoglobulin heavy variable 4-34
+ORPHANET:300895	ALK-positive anaplastic large cell lymphoma	ENSEMBL:ENSG00000171094	ALK receptor tyrosine kinase
+ORPHANET:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:306550	FADD-related immunodeficiency	ENSEMBL:ENSG00000168040	Fas associated via death domain
+ORPHANET:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	ENSEMBL:ENSG00000180318	ALX homeobox 1
+ORPHANET:306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome	ENSEMBL:ENSG00000166086	junctional adhesion molecule 3
+ORPHANET:306530	Congenital hereditary facial paralysis-variable hearing loss syndrome	ENSEMBL:ENSG00000120094	homeobox B1
+ORPHANET:306511	Autosomal recessive spastic paraplegia type 48	ENSEMBL:ENSG00000242802	adaptor related protein complex 5 subunit zeta 1
+ORPHANET:306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome	ENSEMBL:ENSG00000005884	integrin subunit alpha 3
+ORPHANET:306658	Familial normophosphatemic tumoral calcinosis	ENSEMBL:ENSG00000205413	sterile alpha motif domain containing 9
+ORPHANET:306617	X-linked complicated spastic paraplegia type 1	ENSEMBL:ENSG00000198910	L1 cell adhesion molecule
+ORPHANET:295195	Synpolydactyly type 1	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:295191	Zygodactyly type 3	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:295201	Congenital vertical talus, unilateral	ENSEMBL:ENSG00000128710	homeobox D10
+ORPHANET:295203	Congenital vertical talus, bilateral	ENSEMBL:ENSG00000128710	homeobox D10
+ORPHANET:295197	Synpolydactyly type 2	ENSEMBL:ENSG00000077942	fibulin 1
+ORPHANET:295239	Macrodactyly of fingers, unilateral	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:295243	Macrodactyly of toes, unilateral	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	ENSEMBL:ENSG00000106080	FKBP prolyl isomerase 14
+ORPHANET:300319	Charcot-Marie-Tooth disease type 2P	ENSEMBL:ENSG00000148356	leucine rich repeat and sterile alpha motif containing 1
+ORPHANET:300324	Persistent polyclonal B-cell lymphocytosis	ENSEMBL:ENSG00000198286	caspase recruitment domain family member 11
+ORPHANET:300313	Congenital cataract-hearing loss-severe developmental delay syndrome	ENSEMBL:ENSG00000169359	solute carrier family 33 member 1
+ORPHANET:300298	Severe congenital hypochromic anemia with ringed sideroblasts	ENSEMBL:ENSG00000115107	STEAP3 metalloreductase
+ORPHANET:300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	ENSEMBL:ENSG00000106397	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
+ORPHANET:300293	Transient infantile hypertriglyceridemia and hepatosteatosis	ENSEMBL:ENSG00000167588	glycerol-3-phosphate dehydrogenase 1
+ORPHANET:300382	Progeroid and marfanoid aspect-lipodystrophy syndrome	ENSEMBL:ENSG00000166147	fibrillin 1
+ORPHANET:300359	PLCG2-associated antibody deficiency and immune dysregulation	ENSEMBL:ENSG00000197943	phospholipase C gamma 2
+ORPHANET:300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	ENSEMBL:ENSG00000177697	CD151 molecule (Raph blood group)
+ORPHANET:464738	Basel-Vanagaite-Smirin-Yosef syndrome	ENSEMBL:ENSG00000104973	mediator complex subunit 25
+ORPHANET:464760	Familial cavitary optic disc anomaly	ENSEMBL:ENSG00000123342	matrix metallopeptidase 19
+ORPHANET:464756	Familial gastric type 1 neuroendocrine tumor	ENSEMBL:ENSG00000105675	ATPase H+/K+ transporting subunit alpha
+ORPHANET:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	ENSEMBL:ENSG00000085382	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
+ORPHANET:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	ENSEMBL:ENSG00000132600	protein arginine methyltransferase 7
+ORPHANET:464311	Intellectual disability syndrome due to a DYRK1A point mutation	ENSEMBL:ENSG00000157540	dual specificity tyrosine phosphorylation regulated kinase 1A
+ORPHANET:464366	NEK9-related lethal skeletal dysplasia	ENSEMBL:ENSG00000119638	NIMA related kinase 9
+ORPHANET:464336	BENTA disease	ENSEMBL:ENSG00000198286	caspase recruitment domain family member 11
+ORPHANET:464443	COG6-CGD	ENSEMBL:ENSG00000133103	component of oligomeric golgi complex 6
+ORPHANET:464440	Primary dystonia, DYT27 type	ENSEMBL:ENSG00000163359	collagen type VI alpha 3 chain
+ORPHANET:464370	Neonatal alloimmune neutropenia	ENSEMBL:ENSG00000162747	Fc fragment of IgG receptor IIIb
+ORPHANET:456333	Hereditary neuroendocrine tumor of small intestine	ENSEMBL:ENSG00000151151	inositol polyphosphate multikinase
+ORPHANET:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	ENSEMBL:ENSG00000141378	peptidyl-tRNA hydrolase 2
+ORPHANET:456318	Hereditary sensory neuropathy-deafness-dementia syndrome	ENSEMBL:ENSG00000130816	DNA methyltransferase 1
+ORPHANET:454840	NTHL1-related attenuated familial adenomatous polyposis	ENSEMBL:ENSG00000065057	nth like DNA glycosylase 1
+ORPHANET:454745	Kuru	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:453533	Polyendocrine-polyneuropathy syndrome	ENSEMBL:ENSG00000104093	Dmx like 2
+ORPHANET:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	ENSEMBL:ENSG00000095485	CWF19 like cell cycle control factor 1
+ORPHANET:451612	Familial congenital nasolacrimal duct obstruction	ENSEMBL:ENSG00000143061	immunoglobulin superfamily member 3
+ORPHANET:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	ENSEMBL:ENSG00000165119	heterogeneous nuclear ribonucleoprotein K
+ORPHANET:453510	Congenital insensitivity to pain with severe intellectual disability	ENSEMBL:ENSG00000070371	clathrin heavy chain like 1
+ORPHANET:449291	Symptomatic form of fragile X syndrome in female carriers	ENSEMBL:ENSG00000102081	fragile X messenger ribonucleoprotein 1
+ORPHANET:449262	NON RARE IN EUROPE: Primary bile acid malabsorption	ENSEMBL:ENSG00000125255	solute carrier family 10 member 2
+ORPHANET:448251	Progressive autosomal recessive ataxia-deafness syndrome	ENSEMBL:ENSG00000090020	solute carrier family 9 member A1
+ORPHANET:448267	Regressive spondylometaphyseal dysplasia	ENSEMBL:ENSG00000143815	lamin B receptor
+ORPHANET:448010	CAD-CDG	ENSEMBL:ENSG00000084774	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
+ORPHANET:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	ENSEMBL:ENSG00000115902	solute carrier family 1 member 4
+ORPHANET:448242	Autosomal recessive brachyolmia	ENSEMBL:ENSG00000198682	3'-phosphoadenosine 5'-phosphosulfate synthase 2
+ORPHANET:447977	Progressive scapulohumeroperoneal distal myopathy	ENSEMBL:ENSG00000143632	actin alpha 1, skeletal muscle
+ORPHANET:447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	ENSEMBL:ENSG00000133454	myosin XVIIIB
+ORPHANET:447980	19p13.3 microduplication syndrome	ENSEMBL:ENSG00000008441	nuclear factor I X
+ORPHANET:447954	Combined oxidative phosphorylation defect type 25	ENSEMBL:ENSG00000247626	methionyl-tRNA synthetase 2, mitochondrial
+ORPHANET:447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V	ENSEMBL:ENSG00000108784	N-acetyl-alpha-glucosaminidase
+ORPHANET:447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	ENSEMBL:ENSG00000111961	SAM and SH3 domain containing 1
+ORPHANET:459033	Ataxia-oculomotor apraxia type 4	ENSEMBL:ENSG00000039650	polynucleotide kinase 3'-phosphatase
+ORPHANET:459051	Spondyloepiphyseal dysplasia, Stanescu type	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	ENSEMBL:ENSG00000108963	diphthamide biosynthesis 1
+ORPHANET:459056	Autosomal recessive spastic paraplegia type 75	ENSEMBL:ENSG00000105695	myelin associated glycoprotein
+ORPHANET:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	ENSEMBL:ENSG00000147403	ribosomal protein L10
+ORPHANET:458713	NON RARE IN EUROPE: Specific language impairment	ENSEMBL:ENSG00000170448	nuclear transcription factor, X-box binding like 1
+ORPHANET:458798	Spinocerebellar ataxia type 41	ENSEMBL:ENSG00000138741	transient receptor potential cation channel subfamily C member 3
+ORPHANET:458803	Spinocerebellar ataxia type 42	ENSEMBL:ENSG00000006283	calcium voltage-gated channel subunit alpha1 G
+ORPHANET:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	ENSEMBL:ENSG00000198793	mechanistic target of rapamycin kinase
+ORPHANET:457265	Progressive myoclonic epilepsy type 9	ENSEMBL:ENSG00000176619	lamin B2
+ORPHANET:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	ENSEMBL:ENSG00000112640	protein phosphatase 2 regulatory subunit B'delta
+ORPHANET:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	ENSEMBL:ENSG00000215301	DEAD-box helicase 3 X-linked
+ORPHANET:457240	X-linked intellectual disability-short stature-overweight syndrome	ENSEMBL:ENSG00000125676	THO complex subunit 2
+ORPHANET:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	ENSEMBL:ENSG00000159579	ring finger and SPRY domain containing 1
+ORPHANET:457406	Multiple mitochondrial dysfunctions syndrome type 4	ENSEMBL:ENSG00000165898	iron-sulfur cluster assembly 2
+ORPHANET:457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	ENSEMBL:ENSG00000125877	inosine triphosphatase
+ORPHANET:457378	Complex lethal osteochondrodysplasia	ENSEMBL:ENSG00000169762	transmembrane anterior posterior transformation 1
+ORPHANET:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	ENSEMBL:ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
+ORPHANET:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	ENSEMBL:ENSG00000105568	protein phosphatase 2 scaffold subunit Aalpha
+ORPHANET:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	ENSEMBL:ENSG00000145375	spermatogenesis associated 5
+ORPHANET:457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	ENSEMBL:ENSG00000167113	coenzyme Q4
+ORPHANET:457088	Predisposition to invasive fungal disease due to CARD9 deficiency	ENSEMBL:ENSG00000187796	caspase recruitment domain family member 9
+ORPHANET:457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	ENSEMBL:ENSG00000125445	mitochondrial ribosomal protein S7
+ORPHANET:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	ENSEMBL:ENSG00000197106	solute carrier family 6 member 17
+ORPHANET:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	ENSEMBL:ENSG00000083168	lysine acetyltransferase 6A
+ORPHANET:456369	Polyglucosan body myopathy type 2	ENSEMBL:ENSG00000163754	glycogenin 1
+ORPHANET:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	ENSEMBL:ENSG00000250479	coiled-coil-helix-coiled-coil-helix domain containing 10
+ORPHANET:629	Short stature due to growth hormone qualitative anomaly	ENSEMBL:ENSG00000259384	growth hormone 1
+ORPHANET:198	Occipital horn syndrome	ENSEMBL:ENSG00000165240	ATPase copper transporting alpha
+ORPHANET:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	ENSEMBL:ENSG00000151474	FERM domain containing 4A
+ORPHANET:466650	Exercise-induced malignant hyperthermia	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:466962	SMARCA4-deficient sarcoma of thorax	ENSEMBL:ENSG00000127616	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
+ORPHANET:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	ENSEMBL:ENSG00000095787	WW domain containing adaptor with coiled-coil
+ORPHANET:466926	Seizures-scoliosis-macrocephaly syndrome	ENSEMBL:ENSG00000151348	exostosin glycosyltransferase 2
+ORPHANET:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	ENSEMBL:ENSG00000160695	VPS11 core subunit of CORVET and HOPS complexes
+ORPHANET:466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	ENSEMBL:ENSG00000155657	titin
+ORPHANET:466806	Autosomal dominant thrombocytopenia with platelet secretion defect	ENSEMBL:ENSG00000236320	schlafen family member 14
+ORPHANET:466801	LIMS2-related limb-girdle muscular dystrophy	ENSEMBL:ENSG00000072163	LIM zinc finger domain containing 2
+ORPHANET:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	ENSEMBL:ENSG00000142186	SCY1 like pseudokinase 1
+ORPHANET:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	ENSEMBL:ENSG00000147140	non-POU domain containing octamer binding
+ORPHANET:466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	ENSEMBL:ENSG00000144741	solute carrier family 25 member 26
+ORPHANET:466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X	ENSEMBL:ENSG00000104133	SPG11 vesicle trafficking associated, spatacsin
+ORPHANET:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	ENSEMBL:ENSG00000133422	MORC family CW-type zinc finger 2
+ORPHANET:466722	Autosomal recessive spastic paraplegia type 77	ENSEMBL:ENSG00000145982	phenylalanyl-tRNA synthetase 2, mitochondrial
+ORPHANET:466718	Martinique crinkled retinal pigment epitheliopathy	ENSEMBL:ENSG00000114738	MAPK activated protein kinase 3
+ORPHANET:466703	TMEM199-CDG	ENSEMBL:ENSG00000244045	transmembrane protein 199
+ORPHANET:465824	Fetal encasement syndrome	ENSEMBL:ENSG00000213341	component of inhibitor of nuclear factor kappa B kinase complex
+ORPHANET:466026	Class I glucose-6-phosphate dehydrogenase deficiency	ENSEMBL:ENSG00000160211	glucose-6-phosphate dehydrogenase
+ORPHANET:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	ENSEMBL:ENSG00000177030	DEAF1 transcription factor
+ORPHANET:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	ENSEMBL:ENSG00000176225	rotatin
+ORPHANET:467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	ENSEMBL:ENSG00000154781	coiled-coil domain containing 174
+ORPHANET:468635	Cryptogenic multifocal ulcerous stenosing enteritis	ENSEMBL:ENSG00000116711	phospholipase A2 group IVA
+ORPHANET:468641	Chronic enteropathy associated with SLCO2A1 gene	ENSEMBL:ENSG00000174640	solute carrier organic anion transporter family member 2A1
+ORPHANET:468661	Autosomal recessive spastic paraplegia type 74	ENSEMBL:ENSG00000181873	iron-sulfur cluster assembly factor IBA57
+ORPHANET:468666	Isolated generalized anhidrosis with normal sweat glands	ENSEMBL:ENSG00000123104	inositol 1,4,5-trisphosphate receptor type 2
+ORPHANET:468678	White-Sutton syndrome	ENSEMBL:ENSG00000143442	pogo transposable element derived with ZNF domain
+ORPHANET:468684	CCDC115-CDG	ENSEMBL:ENSG00000136710	coiled-coil domain containing 115
+ORPHANET:468672	Colobomatous macrophthalmia-microcornea syndrome	ENSEMBL:ENSG00000150938	cysteine rich transmembrane BMP regulator 1
+ORPHANET:468726	Severe primary trimethylaminuria	ENSEMBL:ENSG00000007933	flavin containing dimethylaniline monoxygenase 3
+ORPHANET:468699	SLC39A8-CDG	ENSEMBL:ENSG00000138821	solute carrier family 39 member 8
+ORPHANET:468717	Rhizomelic chondrodysplasia punctata type 5	ENSEMBL:ENSG00000139197	peroxisomal biogenesis factor 5
+ORPHANET:401785	Autosomal recessive spastic paraplegia type 62	ENSEMBL:ENSG00000107566	ER lipid raft associated 1
+ORPHANET:401780	Autosomal recessive spastic paraplegia type 61	ENSEMBL:ENSG00000170540	ADP ribosylation factor like GTPase 6 interacting protein 1
+ORPHANET:401800	Autosomal recessive spastic paraplegia type 60	ENSEMBL:ENSG00000114742	WD repeat domain 48
+ORPHANET:401795	Autosomal recessive spastic paraplegia type 59	ENSEMBL:ENSG00000138592	ubiquitin specific peptidase 8
+ORPHANET:401768	Proximal myopathy with extrapyramidal signs	ENSEMBL:ENSG00000107745	mitochondrial calcium uptake 1
+ORPHANET:401764	Pancytopenia-developmental delay syndrome	ENSEMBL:ENSG00000182150	ERCC excision repair 6 like 2
+ORPHANET:401777	Optic atrophy-intellectual disability syndrome	ENSEMBL:ENSG00000175745	nuclear receptor subfamily 2 group F member 1
+ORPHANET:401830	Autosomal recessive spastic paraplegia type 69	ENSEMBL:ENSG00000118873	RAB3 GTPase activating non-catalytic protein subunit 2
+ORPHANET:401835	Autosomal recessive spastic paraplegia type 70	ENSEMBL:ENSG00000166986	methionyl-tRNA synthetase 1
+ORPHANET:401840	Autosomal recessive spastic paraplegia type 71	ENSEMBL:ENSG00000056097	zinc finger RNA binding protein
+ORPHANET:401805	Autosomal recessive spastic paraplegia type 63	ENSEMBL:ENSG00000116337	adenosine monophosphate deaminase 2
+ORPHANET:401810	Autosomal recessive spastic paraplegia type 64	ENSEMBL:ENSG00000138185	ectonucleoside triphosphate diphosphohydrolase 1
+ORPHANET:401815	Autosomal recessive spastic paraplegia type 66	ENSEMBL:ENSG00000183876	arylsulfatase family member I
+ORPHANET:401820	Autosomal recessive spastic paraplegia type 67	ENSEMBL:ENSG00000197121	post-GPI attachment to proteins inositol deacylase 1
+ORPHANET:401866	Childhood-onset spasticity with hyperglycinemia	ENSEMBL:ENSG00000182512	glutaredoxin 5
+ORPHANET:401869	Multiple mitochondrial dysfunctions syndrome type 1	ENSEMBL:ENSG00000169599	NFU1 iron-sulfur cluster scaffold
+ORPHANET:401874	Multiple mitochondrial dysfunctions syndrome type 2	ENSEMBL:ENSG00000163170	bolA family member 3
+ORPHANET:401849	Autosomal spastic paraplegia type 72	ENSEMBL:ENSG00000132563	receptor accessory protein 2
+ORPHANET:401859	Lipoic acid synthetase deficiency	ENSEMBL:ENSG00000121897	lipoic acid synthetase
+ORPHANET:401862	Lipoyl transferase 1 deficiency	ENSEMBL:ENSG00000144182	lipoyltransferase 1
+ORPHANET:401911	AXIN2-related attenuated familial adenomatous polyposis	ENSEMBL:ENSG00000168646	axin 2
+ORPHANET:401901	Huntington disease-like syndrome due to C9ORF72 expansions	ENSEMBL:ENSG00000147894	C9orf72-SMCR8 complex subunit
+ORPHANET:401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	ENSEMBL:ENSG00000185467	karyopherin subunit alpha 7
+ORPHANET:401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	ENSEMBL:ENSG00000174990	carbonic anhydrase 5A
+ORPHANET:401945	Moyamoya disease with early-onset achalasia	ENSEMBL:ENSG00000164116	guanylate cyclase 1 soluble subunit alpha 1
+ORPHANET:401986	1p31p32 microdeletion syndrome	ENSEMBL:ENSG00000162599	nuclear factor I A
+ORPHANET:401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	ENSEMBL:ENSG00000217930	presequence translocase associated motor 16
+ORPHANET:401973	MEND syndrome	ENSEMBL:ENSG00000147155	EBP cholestenol delta-isomerase
+ORPHANET:401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	ENSEMBL:ENSG00000132716	DDB1 and CUL4 associated factor 8
+ORPHANET:402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	ENSEMBL:ENSG00000170465	keratin 6C
+ORPHANET:401996	Karyomegalic interstitial nephritis	ENSEMBL:ENSG00000198690	FANCD2 and FANCI associated nuclease 1
+ORPHANET:402026	Acute myeloid leukemia with NPM1 somatic mutations	ENSEMBL:ENSG00000181163	nucleophosmin 1
+ORPHANET:402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	ENSEMBL:ENSG00000042429	mediator complex subunit 17
+ORPHANET:806	Scott syndrome	ENSEMBL:ENSG00000177119	anoctamin 6
+ORPHANET:404473	Severe intellectual disability-progressive spastic diplegia syndrome	ENSEMBL:ENSG00000168036	catenin beta 1
+ORPHANET:404463	Multisystemic smooth muscle dysfunction syndrome	ENSEMBL:ENSG00000107796	actin alpha 2, smooth muscle
+ORPHANET:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	ENSEMBL:ENSG00000077942	fibulin 1
+ORPHANET:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	ENSEMBL:ENSG00000151092	N-glycanase 1
+ORPHANET:404443	Tatton-Brown-Rahman syndrome	ENSEMBL:ENSG00000119772	DNA methyltransferase 3 alpha
+ORPHANET:404448	ADNP syndrome	ENSEMBL:ENSG00000101126	activity dependent neuroprotector homeobox
+ORPHANET:404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	ENSEMBL:ENSG00000172053	glutaminyl-tRNA synthetase 1
+ORPHANET:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	ENSEMBL:ENSG00000168137	SET domain containing 5
+ORPHANET:404560	Familial atypical multiple mole melanoma syndrome	ENSEMBL:ENSG00000147889	cyclin dependent kinase inhibitor 2A
+ORPHANET:404553	Vasculitis due to ADA2 deficiency	ENSEMBL:ENSG00000093072	adenosine deaminase 2
+ORPHANET:404546	DITRA	ENSEMBL:ENSG00000136695	interleukin 36 receptor antagonist
+ORPHANET:404521	Spinal muscular atrophy with respiratory distress type 2	ENSEMBL:ENSG00000001497	LAS1 like ribosome biogenesis factor
+ORPHANET:404507	Chondromyxoid fibroma	ENSEMBL:ENSG00000152822	glutamate metabotropic receptor 1
+ORPHANET:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	ENSEMBL:ENSG00000145016	rubicon autophagy regulator
+ORPHANET:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	ENSEMBL:ENSG00000111802	tyrosyl-DNA phosphodiesterase 2
+ORPHANET:404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	ENSEMBL:ENSG00000100697	dicer 1, ribonuclease III
+ORPHANET:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	ENSEMBL:ENSG00000147224	phosphoribosyl pyrophosphate synthetase 1
+ORPHANET:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	ENSEMBL:ENSG00000147224	phosphoribosyl pyrophosphate synthetase 1
+ORPHANET:411590	Wolfram-like syndrome	ENSEMBL:ENSG00000109501	wolframin ER transmembrane glycoprotein
+ORPHANET:411629	Infantile nephropathic cystinosis	ENSEMBL:ENSG00000040531	cystinosin, lysosomal cystine transporter
+ORPHANET:411493	Pontocerebellar hypoplasia type 10	ENSEMBL:ENSG00000172409	cleavage factor polyribonucleotide kinase subunit 1
+ORPHANET:411511	Angelman syndrome due to a point mutation	ENSEMBL:ENSG00000114062	ubiquitin protein ligase E3A
+ORPHANET:411712	Maternal riboflavin deficiency	ENSEMBL:ENSG00000132517	solute carrier family 52 member 1
+ORPHANET:411788	Familial isolated trichomegaly	ENSEMBL:ENSG00000138675	fibroblast growth factor 5
+ORPHANET:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	ENSEMBL:ENSG00000116641	dedicator of cytokinesis 7
+ORPHANET:412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	ENSEMBL:ENSG00000198363	aspartate beta-hydroxylase
+ORPHANET:411641	Ocular cystinosis	ENSEMBL:ENSG00000040531	cystinosin, lysosomal cystine transporter
+ORPHANET:411634	Juvenile nephropathic cystinosis	ENSEMBL:ENSG00000040531	cystinosin, lysosomal cystine transporter
+ORPHANET:391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome	ENSEMBL:ENSG00000151779	NBAS subunit of NRZ tethering complex
+ORPHANET:391474	Frontorhiny	ENSEMBL:ENSG00000156150	ALX homeobox 3
+ORPHANET:391646	Feingold syndrome type 2	ENSEMBL:ENSG00000215417	miR-17-92a-1 cluster host gene
+ORPHANET:391641	Feingold syndrome type 1	ENSEMBL:ENSG00000134323	MYCN proto-oncogene, bHLH transcription factor
+ORPHANET:391343	Fatal post-viral neurodegenerative disorder	ENSEMBL:ENSG00000180644	perforin 1
+ORPHANET:391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	ENSEMBL:ENSG00000183605	sideroflexin 4
+ORPHANET:391351	SURF1-related Charcot-Marie-Tooth disease type 4	ENSEMBL:ENSG00000148290	SURF1 cytochrome c oxidase assembly factor
+ORPHANET:391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome	ENSEMBL:ENSG00000111252	SH2B adaptor protein 3
+ORPHANET:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	ENSEMBL:ENSG00000114861	forkhead box P1
+ORPHANET:391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	ENSEMBL:ENSG00000070669	asparagine synthetase (glutamine-hydrolyzing)
+ORPHANET:391389	Familial episodic pain syndrome with predominantly upper body involvement	ENSEMBL:ENSG00000104321	transient receptor potential cation channel subfamily A member 1
+ORPHANET:391392	Familial episodic pain syndrome with predominantly lower limb involvement	ENSEMBL:ENSG00000168356	sodium voltage-gated channel alpha subunit 11
+ORPHANET:391397	Hereditary sensory and autonomic neuropathy type 7	ENSEMBL:ENSG00000168356	sodium voltage-gated channel alpha subunit 11
+ORPHANET:391428	HSD10 disease, infantile type	ENSEMBL:ENSG00000072506	hydroxysteroid 17-beta dehydrogenase 10
+ORPHANET:391457	HSD10 disease, neonatal type	ENSEMBL:ENSG00000072506	hydroxysteroid 17-beta dehydrogenase 10
+ORPHANET:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	ENSEMBL:ENSG00000129696	TELO2 interacting protein 2
+ORPHANET:391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	ENSEMBL:ENSG00000061938	tyrosine kinase non receptor 2
+ORPHANET:391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	ENSEMBL:ENSG00000115415	signal transducer and activator of transcription 1
+ORPHANET:391320	East Texas bleeding disorder	ENSEMBL:ENSG00000198734	coagulation factor V
+ORPHANET:391330	X-linked osteoporosis with fractures	ENSEMBL:ENSG00000102024	plastin 3
+ORPHANET:397968	Charcot-Marie-Tooth disease type 2R	ENSEMBL:ENSG00000109654	tripartite motif containing 2
+ORPHANET:397964	Combined immunodeficiency due to MALT1 deficiency	ENSEMBL:ENSG00000172175	MALT1 paracaspase
+ORPHANET:397959	TCR-alpha-beta-positive T-cell deficiency	ENSEMBL:ENSG00000277734	T-cell receptor alpha constant
+ORPHANET:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	ENSEMBL:ENSG00000064313	TATA-box binding protein associated factor 2
+ORPHANET:397946	Autosomal spastic paraplegia type 58	ENSEMBL:ENSG00000129250	kinesin family member 1C
+ORPHANET:397941	MAN1B1-CDG	ENSEMBL:ENSG00000177239	mannosidase alpha class 1B member 1
+ORPHANET:397937	Polyglucosan body myopathy type 1	ENSEMBL:ENSG00000125826	RANBP2-type and C3HC4-type zinc finger containing 1
+ORPHANET:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	ENSEMBL:ENSG00000124313	IQ motif and Sec7 domain ArfGEF 2
+ORPHANET:397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	ENSEMBL:ENSG00000164458	T-box transcription factor T
+ORPHANET:397922	Ferro-cerebro-cutaneous syndrome	ENSEMBL:ENSG00000165195	phosphatidylinositol glycan anchor biosynthesis class A
+ORPHANET:397787	Severe combined immunodeficiency due to IKK2 deficiency	ENSEMBL:ENSG00000104365	inhibitor of nuclear factor kappa B kinase subunit beta
+ORPHANET:397755	Periodic paralysis with transient compartment-like syndrome	ENSEMBL:ENSG00000081248	calcium voltage-gated channel subunit alpha1 S
+ORPHANET:397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	ENSEMBL:ENSG00000136156	integral membrane protein 2B
+ORPHANET:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	ENSEMBL:ENSG00000105357	myosin heavy chain 14
+ORPHANET:397725	COASY protein-associated neurodegeneration	ENSEMBL:ENSG00000068120	Coenzyme A synthase
+ORPHANET:397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U	ENSEMBL:ENSG00000166986	methionyl-tRNA synthetase 1
+ORPHANET:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	ENSEMBL:ENSG00000135317	sorting nexin 14
+ORPHANET:397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	ENSEMBL:ENSG00000133937	goosecoid homeobox
+ORPHANET:397685	Familial hyperprolactinemia	ENSEMBL:ENSG00000113494	prolactin receptor
+ORPHANET:397615	Obesity due to CEP19 deficiency	ENSEMBL:ENSG00000174007	centrosomal protein 19
+ORPHANET:397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	ENSEMBL:ENSG00000166558	solute carrier family 38 member 8
+ORPHANET:397612	Macrocephaly-developmental delay syndrome	ENSEMBL:ENSG00000118162	kaptin, actin binding protein
+ORPHANET:397606	PrP systemic amyloidosis	ENSEMBL:ENSG00000171867	prion protein
+ORPHANET:399808	Male infertility with teratozoospermia due to single gene mutation	ENSEMBL:ENSG00000188613	nanos C2HC-type zinc finger 1
+ORPHANET:399058	Alpha-B crystallin-related late-onset myopathy	ENSEMBL:ENSG00000109846	crystallin alpha B
+ORPHANET:399081	KLHL9-related early-onset distal myopathy	ENSEMBL:ENSG00000198642	kelch like family member 9
+ORPHANET:399103	Distal nebulin myopathy	ENSEMBL:ENSG00000183091	nebulin
+ORPHANET:399096	Distal anoctaminopathy	ENSEMBL:ENSG00000171714	anoctamin 5
+ORPHANET:398189	Focal facial dermal dysplasia type IV	ENSEMBL:ENSG00000187553	cytochrome P450 family 26 subfamily C member 1
+ORPHANET:398069	MAGEL2-related Prader-Willi-like syndrome	ENSEMBL:ENSG00000254585	MAGE family member L2
+ORPHANET:398079	SIM1-related Prader-Willi-like syndrome	ENSEMBL:ENSG00000112246	SIM bHLH transcription factor 1
+ORPHANET:398088	Hereditary cryohydrocytosis with normal stomatin	ENSEMBL:ENSG00000004939	solute carrier family 4 member 1 (Diego blood group)
+ORPHANET:435628	Keppen-Lubinsky syndrome	ENSEMBL:ENSG00000157542	potassium inwardly rectifying channel subfamily J member 6
+ORPHANET:435660	LIPE-related familial partial lipodystrophy	ENSEMBL:ENSG00000079435	lipase E, hormone sensitive type
+ORPHANET:435651	CIDEC-related familial partial lipodystrophy	ENSEMBL:ENSG00000187288	cell death inducing DFFA like effector c
+ORPHANET:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	ENSEMBL:ENSG00000157766	aggrecan
+ORPHANET:435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome	ENSEMBL:ENSG00000106009	BRCA1 associated ATM activator 1
+ORPHANET:435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	ENSEMBL:ENSG00000184302	SIX homeobox 6
+ORPHANET:435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	ENSEMBL:ENSG00000114354	trafficking from ER to golgi regulator
+ORPHANET:435953	Progeroid features-hepatocellular carcinoma predisposition syndrome	ENSEMBL:ENSG00000010072	SprT-like N-terminal domain
+ORPHANET:435988	Chronic atrial and intestinal dysrhythmia syndrome	ENSEMBL:ENSG00000129810	shugoshin 1
+ORPHANET:435934	COG2-CDG	ENSEMBL:ENSG00000135775	component of oligomeric golgi complex 2
+ORPHANET:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	ENSEMBL:ENSG00000147403	ribosomal protein L10
+ORPHANET:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	ENSEMBL:ENSG00000129757	cyclin dependent kinase inhibitor 1C
+ORPHANET:435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	ENSEMBL:ENSG00000111775	cytochrome c oxidase subunit 6A1
+ORPHANET:436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	ENSEMBL:ENSG00000163599	cytotoxic T-lymphocyte associated protein 4
+ORPHANET:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	ENSEMBL:ENSG00000152217	SET binding protein 1
+ORPHANET:436169	Thrombomodulin-related bleeding disorder	ENSEMBL:ENSG00000178726	thrombomodulin
+ORPHANET:436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	ENSEMBL:ENSG00000091106	NLR family CARD domain containing 4
+ORPHANET:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	ENSEMBL:ENSG00000067704	isoleucyl-tRNA synthetase 2, mitochondrial
+ORPHANET:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	ENSEMBL:ENSG00000072042	retinol dehydrogenase 11
+ORPHANET:436242	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	ENSEMBL:ENSG00000116783	TNNI3 interacting kinase
+ORPHANET:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	ENSEMBL:ENSG00000256053	cytochrome c oxidase assembly factor 8
+ORPHANET:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	ENSEMBL:ENSG00000115486	gamma-glutamyl carboxylase
+ORPHANET:437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	ENSEMBL:ENSG00000203747	Fc fragment of IgG receptor IIIa
+ORPHANET:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	ENSEMBL:ENSG00000092054	myosin heavy chain 7
+ORPHANET:438178	Fatty acyl-CoA reductase 1 deficiency	ENSEMBL:ENSG00000197601	fatty acyl-CoA reductase 1
+ORPHANET:438159	STAT3-related early-onset multisystem autoimmune disease	ENSEMBL:ENSG00000168610	signal transducer and activator of transcription 3
+ORPHANET:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	ENSEMBL:ENSG00000132646	proliferating cell nuclear antigen
+ORPHANET:438117	Steel syndrome	ENSEMBL:ENSG00000196739	collagen type XXVII alpha 1 chain
+ORPHANET:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	ENSEMBL:ENSG00000113643	arginyl-tRNA synthetase 1
+ORPHANET:438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency	ENSEMBL:ENSG00000155380	solute carrier family 16 member 1
+ORPHANET:438274	GCGR-related hyperglucagonemia	ENSEMBL:ENSG00000215644	glucagon receptor
+ORPHANET:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	ENSEMBL:ENSG00000185129	purine rich element binding protein A
+ORPHANET:439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	ENSEMBL:ENSG00000145794	multiple EGF like domains 10
+ORPHANET:439218	KCNQ2-related epileptic encephalopathy	ENSEMBL:ENSG00000075043	potassium voltage-gated channel subfamily Q member 2
+ORPHANET:439822	PDE4D haploinsufficiency syndrome	ENSEMBL:ENSG00000113448	phosphodiesterase 4D
+ORPHANET:439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	ENSEMBL:ENSG00000106617	protein kinase AMP-activated non-catalytic subunit gamma 2
+ORPHANET:439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	ENSEMBL:ENSG00000118193	kinesin family member 14
+ORPHANET:440402	Interstitial lung disease due to ABCA3 deficiency	ENSEMBL:ENSG00000167972	ATP binding cassette subfamily A member 3
+ORPHANET:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	ENSEMBL:ENSG00000060718	collagen type XI alpha 1 chain
+ORPHANET:440392	Interstitial lung disease due to SP-C deficiency	ENSEMBL:ENSG00000168484	surfactant protein C
+ORPHANET:440713	Isolated sedoheptulokinase deficiency	ENSEMBL:ENSG00000197417	sedoheptulokinase
+ORPHANET:440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	ENSEMBL:ENSG00000166986	methionyl-tRNA synthetase 1
+ORPHANET:440706	Ribose-5-P isomerase deficiency	ENSEMBL:ENSG00000153574	ribose 5-phosphate isomerase A
+ORPHANET:443057	Sporadic porphyria cutanea tarda	ENSEMBL:ENSG00000010704	homeostatic iron regulator
+ORPHANET:443073	Charcot-Marie-Tooth disease type 2S	ENSEMBL:ENSG00000132740	immunoglobulin mu DNA binding protein 2
+ORPHANET:443197	X-linked erythropoietic protoporphyria	ENSEMBL:ENSG00000158578	5'-aminolevulinate synthase 2
+ORPHANET:443236	Postural orthostatic tachycardia syndrome due to NET deficiency	ENSEMBL:ENSG00000103546	solute carrier family 6 member 2
+ORPHANET:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	ENSEMBL:ENSG00000196839	adenosine deaminase
+ORPHANET:443162	NDE1-related microhydranencephaly	ENSEMBL:ENSG00000072864	nudE neurodevelopment protein 1
+ORPHANET:443811	PGM3-CDG	ENSEMBL:ENSG00000013375	phosphoglucomutase 3
+ORPHANET:443950	DNAJB2-related Charcot-Marie-Tooth disease type 2	ENSEMBL:ENSG00000135924	DnaJ heat shock protein family (Hsp40) member B2
+ORPHANET:443988	Ventriculomegaly-cystic kidney disease	ENSEMBL:ENSG00000148204	crumbs cell polarity complex component 2
+ORPHANET:444092	Autoimmune interstitial lung disease-arthritis syndrome	ENSEMBL:ENSG00000122218	COPI coat complex subunit alpha
+ORPHANET:444099	Autosomal dominant spastic paraplegia type 73	ENSEMBL:ENSG00000169169	carnitine palmitoyltransferase 1C
+ORPHANET:444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	ENSEMBL:ENSG00000153113	calpastatin
+ORPHANET:443995	Mandibulofacial dysostosis with alopecia	ENSEMBL:ENSG00000151617	endothelin receptor type A
+ORPHANET:444048	46,XX ovarian dysgenesis-short stature syndrome	ENSEMBL:ENSG00000111877	minichromosome maintenance 9 homologous recombination repair factor
+ORPHANET:444013	Combined oxidative phosphorylation defect type 23	ENSEMBL:ENSG00000130299	GTP binding protein 3, mitochondrial
+ORPHANET:444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	ENSEMBL:ENSG00000117724	centromere protein F
+ORPHANET:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	ENSEMBL:ENSG00000072364	ALF transcription elongation factor 4
+ORPHANET:444072	Cerebellar-facial-dental syndrome	ENSEMBL:ENSG00000185024	BRF1 RNA polymerase III transcription initiation factor subunit
+ORPHANET:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	ENSEMBL:ENSG00000134900	tripeptidyl peptidase 2
+ORPHANET:444458	Combined oxidative phosphorylation defect type 24	ENSEMBL:ENSG00000137513	asparaginyl-tRNA synthetase 2, mitochondrial
+ORPHANET:445110	Limb-girdle muscular dystrophy due to POMK deficiency	ENSEMBL:ENSG00000185900	protein O-mannose kinase
+ORPHANET:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	ENSEMBL:ENSG00000102580	DnaJ heat shock protein family (Hsp40) member C3
+ORPHANET:445038	3-methylglutaconic aciduria type 7	ENSEMBL:ENSG00000162129	caseinolytic mitochondrial matrix peptidase chaperone subunit B
+ORPHANET:445018	Combined immunodeficiency due to LRBA deficiency	ENSEMBL:ENSG00000198589	LPS responsive beige-like anchor protein
+ORPHANET:447731	NIK deficiency	ENSEMBL:ENSG00000006062	mitogen-activated protein kinase kinase kinase 14
+ORPHANET:447737	DOCK2 deficiency	ENSEMBL:ENSG00000134516	dedicator of cytokinesis 2
+ORPHANET:447740	Susceptibility to localized juvenile periodontitis	ENSEMBL:ENSG00000171051	formyl peptide receptor 1
+ORPHANET:447896	Tremor-ataxia-central hypomyelination syndrome	ENSEMBL:ENSG00000148606	RNA polymerase III subunit A
+ORPHANET:447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	ENSEMBL:ENSG00000148606	RNA polymerase III subunit A
+ORPHANET:447795	Lipoyl transferase 2 deficiency	ENSEMBL:ENSG00000175536	lipoyl(octanoyl) transferase 2
+ORPHANET:447784	Mitochondrial pyruvate carrier deficiency	ENSEMBL:ENSG00000060762	mitochondrial pyruvate carrier 1
+ORPHANET:447757	Autosomal dominant spastic paraplegia type 9B	ENSEMBL:ENSG00000059573	aldehyde dehydrogenase 18 family member A1
+ORPHANET:447760	Autosomal recessive spastic paraplegia type 9B	ENSEMBL:ENSG00000059573	aldehyde dehydrogenase 18 family member A1
+ORPHANET:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	ENSEMBL:ENSG00000188191	protein kinase cAMP-dependent type I regulatory subunit beta
+ORPHANET:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	ENSEMBL:ENSG00000103266	STIP1 homology and U-box containing protein 1
+ORPHANET:412181	Epidermolysis bullosa simplex due to BP230 deficiency	ENSEMBL:ENSG00000151914	dystonin
+ORPHANET:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	ENSEMBL:ENSG00000126705	AT-hook DNA binding motif containing 1
+ORPHANET:412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency	ENSEMBL:ENSG00000110723	exophilin 5
+ORPHANET:412206	Primary failure of tooth eruption	ENSEMBL:ENSG00000160801	parathyroid hormone 1 receptor
+ORPHANET:420179	Malan overgrowth syndrome	ENSEMBL:ENSG00000008441	nuclear factor I X
+ORPHANET:420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	ENSEMBL:ENSG00000119535	colony stimulating factor 3 receptor
+ORPHANET:420728	Combined oxidative phosphorylation defect type 20	ENSEMBL:ENSG00000204394	valyl-tRNA synthetase 1
+ORPHANET:420733	Combined oxidative phosphorylation defect type 21	ENSEMBL:ENSG00000143374	threonyl-tRNA synthetase 2, mitochondrial
+ORPHANET:420741	RIDDLE syndrome	ENSEMBL:ENSG00000163961	ring finger protein 168
+ORPHANET:420492	Adult-onset cervical dystonia, DYT23 type	ENSEMBL:ENSG00000148337	CDKN1A interacting zinc finger protein 1
+ORPHANET:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	ENSEMBL:ENSG00000134343	anoctamin 3
+ORPHANET:420429	Glycogen storage disease due to acid maltase deficiency, late-onset	ENSEMBL:ENSG00000171298	alpha glucosidase
+ORPHANET:420611	Transient myeloproliferative syndrome	ENSEMBL:ENSG00000102145	GATA binding protein 1
+ORPHANET:420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	ENSEMBL:ENSG00000074047	GLI family zinc finger 2
+ORPHANET:420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	ENSEMBL:ENSG00000180871	C-X-C motif chemokine receptor 2
+ORPHANET:420686	Woolly hair-palmoplantar keratoderma syndrome	ENSEMBL:ENSG00000197256	KN motif and ankyrin repeat domains 2
+ORPHANET:420561	Temple-Baraitser syndrome	ENSEMBL:ENSG00000143473	potassium voltage-gated channel subfamily H member 1
+ORPHANET:420573	Severe combined immunodeficiency due to CTPS1 deficiency	ENSEMBL:ENSG00000171793	CTP synthase 1
+ORPHANET:420566	Bleeding disorder due to CalDAG-GEFI deficiency	ENSEMBL:ENSG00000068831	RAS guanyl releasing protein 2
+ORPHANET:423461	Mucolipidosis type III alpha/beta	ENSEMBL:ENSG00000111670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
+ORPHANET:423470	Mucolipidosis type III gamma	ENSEMBL:ENSG00000090581	N-acetylglucosamine-1-phosphate transferase subunit gamma
+ORPHANET:423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	ENSEMBL:ENSG00000083307	grainyhead like transcription factor 2
+ORPHANET:423384	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	ENSEMBL:ENSG00000171135	jagunal homolog 1
+ORPHANET:423296	Spinocerebellar ataxia type 38	ENSEMBL:ENSG00000012660	ELOVL fatty acid elongase 5
+ORPHANET:423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	ENSEMBL:ENSG00000172053	glutaminyl-tRNA synthetase 1
+ORPHANET:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	ENSEMBL:ENSG00000147224	phosphoribosyl pyrophosphate synthetase 1
+ORPHANET:423275	Spinocerebellar ataxia type 40	ENSEMBL:ENSG00000015133	coiled-coil domain containing 88C
+ORPHANET:424107	Congenital myopathy with myasthenic-like onset	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	ENSEMBL:ENSG00000181541	mab-21 like 2
+ORPHANET:424261	TOR1AIP1-related limb-girdle muscular dystrophy	ENSEMBL:ENSG00000143337	torsin 1A interacting protein 1
+ORPHANET:424027	Progressive myoclonic epilepsy type 8	ENSEMBL:ENSG00000223802	ceramide synthase 1
+ORPHANET:423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome	ENSEMBL:ENSG00000100749	VRK serine/threonine kinase 1
+ORPHANET:425120	STING-associated vasculopathy with onset in infancy	ENSEMBL:ENSG00000184584	stimulator of interferon response cGAMP interactor 1
+ORPHANET:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	ENSEMBL:ENSG00000152620	NAD kinase 2, mitochondrial
+ORPHANET:431272	X-linked scapuloperoneal muscular dystrophy	ENSEMBL:ENSG00000022267	four and a half LIM domains 1
+ORPHANET:431329	Autosomal recessive spastic paraplegia type 57	ENSEMBL:ENSG00000114354	trafficking from ER to golgi regulator
+ORPHANET:431255	Scapuloperoneal spinal muscular atrophy	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:431149	Combined immunodeficiency due to OX40 deficiency	ENSEMBL:ENSG00000186827	TNF receptor superfamily member 4
+ORPHANET:435438	Progressive myoclonic epilepsy type 7	ENSEMBL:ENSG00000129159	potassium voltage-gated channel subfamily C member 1
+ORPHANET:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	ENSEMBL:ENSG00000165280	valosin containing protein
+ORPHANET:434179	Orofaciodigital syndrome type 14	ENSEMBL:ENSG00000168014	C2 domain containing 3 centriole elongation regulator
+ORPHANET:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	ENSEMBL:ENSG00000035928	replication factor C subunit 1
+ORPHANET:504523	Severe combined immunodeficiency due to LAT deficiency	ENSEMBL:ENSG00000213658	linker for activation of T cells
+ORPHANET:504530	Combined immunodeficiency due to Moesin deficiency	ENSEMBL:ENSG00000147065	moesin
+ORPHANET:26793	Very long chain acyl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000072778	acyl-CoA dehydrogenase very long chain
+ORPHANET:28378	Tyrosinemia type 2	ENSEMBL:ENSG00000198650	tyrosine aminotransferase
+ORPHANET:29073	Multiple myeloma	ENSEMBL:ENSG00000110092	cyclin D1
+ORPHANET:320	Apparent mineralocorticoid excess	ENSEMBL:ENSG00000176387	hydroxysteroid 11-beta dehydrogenase 2
+ORPHANET:230	Dopamine beta-hydroxylase deficiency	ENSEMBL:ENSG00000123454	dopamine beta-hydroxylase
+ORPHANET:404	Familial hyperaldosteronism type II	ENSEMBL:ENSG00000114859	chloride voltage-gated channel 2
+ORPHANET:162	Cataract-glaucoma syndrome	ENSEMBL:ENSG00000107859	paired like homeodomain 3
+ORPHANET:25980	X-linked myopathy with excessive autophagy	ENSEMBL:ENSG00000160131	vacuolar ATPase assembly factor VMA21
+ORPHANET:26792	Short chain acyl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000122971	acyl-CoA dehydrogenase short chain
+ORPHANET:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	ENSEMBL:ENSG00000120729	myotilin
+ORPHANET:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	ENSEMBL:ENSG00000102683	sarcoglycan gamma
+ORPHANET:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	ENSEMBL:ENSG00000170624	sarcoglycan delta
+ORPHANET:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	ENSEMBL:ENSG00000163069	sarcoglycan beta
+ORPHANET:505227	Combined immunodeficiency due to GINS1 deficiency	ENSEMBL:ENSG00000101003	GINS complex subunit 1
+ORPHANET:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	ENSEMBL:ENSG00000155100	OTU deubiquitinase 6B
+ORPHANET:505216	3-methylglutaconic aciduria type 9	ENSEMBL:ENSG00000105197	translocase of inner mitochondrial membrane 50
+ORPHANET:272	Congenital muscular dystrophy, Fukuyama type	ENSEMBL:ENSG00000106692	fukutin
+ORPHANET:505208	3-methylglutaconic aciduria type 8	ENSEMBL:ENSG00000115317	HtrA serine peptidase 2
+ORPHANET:268	Dysferlin-related limb-girdle muscular dystrophy R2	ENSEMBL:ENSG00000135636	dysferlin
+ORPHANET:600	Vocal cord and pharyngeal distal myopathy	ENSEMBL:ENSG00000015479	matrin 3
+ORPHANET:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	ENSEMBL:ENSG00000139719	VPS33A core subunit of CORVET and HOPS complexes
+ORPHANET:609	Tibial muscular dystrophy	ENSEMBL:ENSG00000155657	titin
+ORPHANET:602	GNE myopathy	ENSEMBL:ENSG00000159921	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
+ORPHANET:505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	ENSEMBL:ENSG00000014824	solute carrier family 30 member 9
+ORPHANET:508093	MEPAN syndrome	ENSEMBL:ENSG00000116353	mitochondrial trans-2-enoyl-CoA reductase
+ORPHANET:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	ENSEMBL:ENSG00000012232	exostosin like glycosyltransferase 3
+ORPHANET:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	ENSEMBL:ENSG00000162601	Myb like, SWIRM and MPN domains 1
+ORPHANET:508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy	ENSEMBL:ENSG00000114796	kelch like family member 24
+ORPHANET:508523	Hyperphenylalaninemia due to DNAJC12 deficiency	ENSEMBL:ENSG00000108176	DnaJ heat shock protein family (Hsp40) member C12
+ORPHANET:508488	8q24.3 microdeletion syndrome	ENSEMBL:ENSG00000179950	poly(U) binding splicing factor 60
+ORPHANET:508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	ENSEMBL:ENSG00000068001	hyaluronidase 2
+ORPHANET:508501	Oral-facial-digital syndrome with short stature and brachymesophalangy	ENSEMBL:ENSG00000114446	intraflagellar transport 57
+ORPHANET:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	ENSEMBL:ENSG00000179950	poly(U) binding splicing factor 60
+ORPHANET:505652	CDKL5-deficiency disorder	ENSEMBL:ENSG00000008086	cyclin dependent kinase like 5
+ORPHANET:506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	ENSEMBL:ENSG00000166224	sphingosine-1-phosphate lyase 1
+ORPHANET:506307	Stromme syndrome	ENSEMBL:ENSG00000117724	centromere protein F
+ORPHANET:506358	Gabriele-de Vries syndrome	ENSEMBL:ENSG00000100811	YY1 transcription factor
+ORPHANET:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	ENSEMBL:ENSG00000138018	selenoprotein I
+ORPHANET:495274	Charcot-Marie-Tooth disease type 2T	ENSEMBL:ENSG00000196549	membrane metalloendopeptidase
+ORPHANET:495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	ENSEMBL:ENSG00000149196	heat shock protein nuclear import factor hikeshi
+ORPHANET:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	ENSEMBL:ENSG00000141556	tubulin folding cofactor D
+ORPHANET:496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	ENSEMBL:ENSG00000174611	kyphoscoliosis peptidase
+ORPHANET:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	ENSEMBL:ENSG00000174611	kyphoscoliosis peptidase
+ORPHANET:496751	EVEN-plus syndrome	ENSEMBL:ENSG00000113013	heat shock protein family A (Hsp70) member 9
+ORPHANET:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	ENSEMBL:ENSG00000284770	tubulin folding cofactor E
+ORPHANET:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	ENSEMBL:ENSG00000197785	ATPase family AAA domain containing 3A
+ORPHANET:494433	MIRAGE syndrome	ENSEMBL:ENSG00000205413	sterile alpha motif domain containing 9
+ORPHANET:494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	ENSEMBL:ENSG00000130713	exosome component 2
+ORPHANET:494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	ENSEMBL:ENSG00000131504	diaphanous related formin 1
+ORPHANET:494344	RERE-related neurodevelopmental syndrome	ENSEMBL:ENSG00000142599	arginine-glutamic acid dipeptide repeats
+ORPHANET:494541	Childhood-onset benign chorea with striatal involvement	ENSEMBL:ENSG00000112541	phosphodiesterase 10A
+ORPHANET:494526	Infantile-onset generalized dyskinesia with orofacial involvement	ENSEMBL:ENSG00000112541	phosphodiesterase 10A
+ORPHANET:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	ENSEMBL:ENSG00000108312	upstream binding transcription factor
+ORPHANET:500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	ENSEMBL:ENSG00000158301	G protein-coupled receptor associated sorting protein 2
+ORPHANET:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	ENSEMBL:ENSG00000159140	SON DNA and RNA binding protein
+ORPHANET:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	ENSEMBL:ENSG00000136238	Rac family small GTPase 1
+ORPHANET:500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	ENSEMBL:ENSG00000138180	centrosomal protein 55
+ORPHANET:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	ENSEMBL:ENSG00000171853	trafficking protein particle complex subunit 12
+ORPHANET:500055	16p13.2 microdeletion syndrome	ENSEMBL:ENSG00000187555	ubiquitin specific peptidase 7
+ORPHANET:500095	Tall stature-intellectual disability-renal anomalies syndrome	ENSEMBL:ENSG00000172500	FGF1 intracellular binding protein
+ORPHANET:500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	ENSEMBL:ENSG00000154124	OTU deubiquitinase with linear linkage specificity
+ORPHANET:123	Björnstad syndrome	ENSEMBL:ENSG00000074582	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
+ORPHANET:898	Wagner disease	ENSEMBL:ENSG00000038427	versican
+ORPHANET:505	Graham Little-Piccardi-Lassueur syndrome	ENSEMBL:ENSG00000204287	major histocompatibility complex, class II, DR alpha
+ORPHANET:500548	Osteosclerotic metaphyseal dysplasia	ENSEMBL:ENSG00000154237	leucine rich repeat kinase 1
+ORPHANET:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	ENSEMBL:ENSG00000266173	STE20 related adaptor alpha
+ORPHANET:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	ENSEMBL:ENSG00000160877	nucleus accumbens associated 1
+ORPHANET:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	ENSEMBL:ENSG00000125459	misato mitochondrial distribution and morphology regulator 1
+ORPHANET:502430	Metopic ridging-ptosis-facial dysmorphism syndrome	ENSEMBL:ENSG00000148143	zinc finger protein 462
+ORPHANET:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	ENSEMBL:ENSG00000118007	stromal antigen 1
+ORPHANET:502444	Alkaline ceramidase 3 deficiency	ENSEMBL:ENSG00000078124	alkaline ceramidase 3
+ORPHANET:91	Aromatase deficiency	ENSEMBL:ENSG00000137869	cytochrome P450 family 19 subfamily A member 1
+ORPHANET:785	Estrogen resistance syndrome	ENSEMBL:ENSG00000091831	estrogen receptor 1
+ORPHANET:841	Sebocystomatosis	ENSEMBL:ENSG00000128422	keratin 17
+ORPHANET:867	Familial multiple trichoepithelioma	ENSEMBL:ENSG00000083799	CYLD lysine 63 deubiquitinase
+ORPHANET:497906	Childhood-onset basal ganglia degeneration syndrome	ENSEMBL:ENSG00000103043	VAC14 component of PIKFYVE complex
+ORPHANET:523	Hereditary leiomyomatosis and renal cell cancer	ENSEMBL:ENSG00000091483	fumarate hydratase
+ORPHANET:497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2	ENSEMBL:ENSG00000196549	membrane metalloendopeptidase
+ORPHANET:497764	Spinocerebellar ataxia type 43	ENSEMBL:ENSG00000196549	membrane metalloendopeptidase
+ORPHANET:530	Lipoid proteinosis	ENSEMBL:ENSG00000143369	extracellular matrix protein 1
+ORPHANET:462	NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	ENSEMBL:ENSG00000143631	filaggrin
+ORPHANET:734	Alpha delta granule deficiency	ENSEMBL:ENSG00000165702	growth factor independent 1B transcriptional repressor
+ORPHANET:721	Gray platelet syndrome	ENSEMBL:ENSG00000160796	neurobeachin like 2
+ORPHANET:722	Hypoplasminogenemia	ENSEMBL:ENSG00000122194	plasminogen
+ORPHANET:749	Congenital prekallikrein deficiency	ENSEMBL:ENSG00000164344	kallikrein B1
+ORPHANET:483	Congenital high-molecular-weight kininogen deficiency	ENSEMBL:ENSG00000113889	kininogen 1
+ORPHANET:498359	Aquagenic palmoplantar keratoderma	ENSEMBL:ENSG00000001626	CF transmembrane conductance regulator
+ORPHANET:852	X-linked thrombocytopenia with normal platelets	ENSEMBL:ENSG00000015285	WASP actin nucleation promoting factor
+ORPHANET:465	Congenital plasminogen activator inhibitor type 1 deficiency	ENSEMBL:ENSG00000106366	serpin family E member 1
+ORPHANET:498251	Menstrual cycle-dependent periodic fever	ENSEMBL:ENSG00000178394	5-hydroxytryptamine receptor 1A
+ORPHANET:143	Parathyroid carcinoma	ENSEMBL:ENSG00000134371	cell division cycle 73
+ORPHANET:786	Generalized glucocorticoid resistance syndrome	ENSEMBL:ENSG00000113580	nuclear receptor subfamily 3 group C member 1
+ORPHANET:615	Familial atrial myxoma	ENSEMBL:ENSG00000108946	protein kinase cAMP-dependent type I regulatory subunit alpha
+ORPHANET:498497	Short rib-polydactyly syndrome type 5	ENSEMBL:ENSG00000118965	WD repeat domain 35
+ORPHANET:498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	ENSEMBL:ENSG00000196091	myosin binding protein C1
+ORPHANET:840	Syringocystadenoma papilliferum	ENSEMBL:ENSG00000157764	B-Raf proto-oncogene, serine/threonine kinase
+ORPHANET:498494	Mirror-image polydactyly	ENSEMBL:ENSG00000069011	paired like homeodomain 1
+ORPHANET:384	Huriez syndrome	ENSEMBL:ENSG00000163104	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
+ORPHANET:41	Dyschromatosis symmetrica hereditaria	ENSEMBL:ENSG00000160710	adenosine deaminase RNA specific
+ORPHANET:122	Birt-Hogg-Dubé syndrome	ENSEMBL:ENSG00000154803	folliculin
+ORPHANET:241	Dyschromatosis universalis hereditaria	ENSEMBL:ENSG00000115657	ATP binding cassette subfamily B member 6 (Langereis blood group)
+ORPHANET:211	Familial cylindromatosis	ENSEMBL:ENSG00000083799	CYLD lysine 63 deubiquitinase
+ORPHANET:2908	Kindler epidermolysis bullosa	ENSEMBL:ENSG00000101311	FERM domain containing kindlin 1
+ORPHANET:779	Reynolds syndrome	ENSEMBL:ENSG00000143815	lamin B receptor
+ORPHANET:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	ENSEMBL:ENSG00000103671	thyroid hormone receptor interactor 4
+ORPHANET:485418	EMILIN-1-related connective tissue disease	ENSEMBL:ENSG00000138080	elastin microfibril interfacer 1
+ORPHANET:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	ENSEMBL:ENSG00000168958	mitochondrial fission factor
+ORPHANET:485350	CLCN4-related X-linked intellectual disability syndrome	ENSEMBL:ENSG00000073464	chloride voltage-gated channel 4
+ORPHANET:482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	ENSEMBL:ENSG00000185100	adenylosuccinate synthase 1
+ORPHANET:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	ENSEMBL:ENSG00000183597	transport and golgi organization 2 homolog
+ORPHANET:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	ENSEMBL:ENSG00000147133	TATA-box binding protein associated factor 1
+ORPHANET:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	ENSEMBL:ENSG00000127463	ER membrane protein complex subunit 1
+ORPHANET:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	ENSEMBL:ENSG00000124486	ubiquitin specific peptidase 9 X-linked
+ORPHANET:31740	Hypersensitivity pneumonitis	ENSEMBL:ENSG00000117983	mucin 5B, oligomeric mucus/gel-forming
+ORPHANET:480556	Isolated neonatal sclerosing cholangitis	ENSEMBL:ENSG00000146038	doublecortin domain containing 2
+ORPHANET:480851	Hereditary thrombocytopenia with early-onset myelofibrosis	ENSEMBL:ENSG00000197122	SRC proto-oncogene, non-receptor tyrosine kinase
+ORPHANET:480682	POGLUT1-related limb-girdle muscular dystrophy R21	ENSEMBL:ENSG00000163389	protein O-glucosyltransferase 1
+ORPHANET:481665	USP18 deficiency	ENSEMBL:ENSG00000184979	ubiquitin specific peptidase 18
+ORPHANET:482077	HTRA1-related autosomal dominant cerebral small vessel disease	ENSEMBL:ENSG00000166033	HtrA serine peptidase 1
+ORPHANET:481986	Familial schizencephaly	ENSEMBL:ENSG00000187498	collagen type IV alpha 1 chain
+ORPHANET:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	ENSEMBL:ENSG00000143811	pyrroline-5-carboxylate reductase 2
+ORPHANET:480476	Progressive familial intrahepatic cholestasis type 5	ENSEMBL:ENSG00000012504	nuclear receptor subfamily 1 group H member 4
+ORPHANET:480491	MYO5B-related progressive familial intrahepatic cholestasis	ENSEMBL:ENSG00000167306	myosin VB
+ORPHANET:480483	Progressive familial intrahepatic cholestasis type 4	ENSEMBL:ENSG00000119139	tight junction protein 2
+ORPHANET:480528	Lethal hydranencephaly-diaphragmatic hernia syndrome	ENSEMBL:ENSG00000104368	plasminogen activator, tissue type
+ORPHANET:480536	MSH3-related attenuated familial adenomatous polyposis	ENSEMBL:ENSG00000113318	mutS homolog 3
+ORPHANET:477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	ENSEMBL:ENSG00000131504	diaphanous related formin 1
+ORPHANET:477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	ENSEMBL:ENSG00000116711	phospholipase A2 group IVA
+ORPHANET:478029	Combined oxidative phosphorylation defect type 29	ENSEMBL:ENSG00000100348	thioredoxin 2
+ORPHANET:478042	Combined oxidative phosphorylation defect type 30	ENSEMBL:ENSG00000174173	tRNA methyltransferase 10C, mitochondrial RNase P subunit
+ORPHANET:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	ENSEMBL:ENSG00000004487	lysine demethylase 1A
+ORPHANET:477857	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	ENSEMBL:ENSG00000143365	RAR related orphan receptor C
+ORPHANET:477817	PMP22-RAI1 contiguous gene duplication syndrome	ENSEMBL:ENSG00000108557	retinoic acid induced 1
+ORPHANET:477831	Kosaki overgrowth syndrome	ENSEMBL:ENSG00000113721	platelet derived growth factor receptor beta
+ORPHANET:478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	ENSEMBL:ENSG00000027001	mitochondrial intermediate peptidase
+ORPHANET:478664	Hereditary sensory and autonomic neuropathy type 8	ENSEMBL:ENSG00000130711	PR/SET domain 12
+ORPHANET:477661	IL21-related infantile inflammatory bowel disease	ENSEMBL:ENSG00000138684	interleukin 21
+ORPHANET:477684	Combined oxidative phosphorylation defect type 26	ENSEMBL:ENSG00000126814	tRNA methyltransferase 5
+ORPHANET:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	ENSEMBL:ENSG00000166123	glutamic--pyruvic transaminase 2
+ORPHANET:477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy	ENSEMBL:ENSG00000187498	collagen type IV alpha 1 chain
+ORPHANET:477774	Combined oxidative phosphorylation defect type 27	ENSEMBL:ENSG00000134905	cysteinyl-tRNA synthetase 2, mitochondrial
+ORPHANET:476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	ENSEMBL:ENSG00000164690	sonic hedgehog signaling molecule
+ORPHANET:476113	Combined immunodeficiency due to TFRC deficiency	ENSEMBL:ENSG00000072274	transferrin receptor
+ORPHANET:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	ENSEMBL:ENSG00000038382	trio Rho guanine nucleotide exchange factor
+ORPHANET:476406	Congenital generalized hypercontractile muscle stiffness syndrome	ENSEMBL:ENSG00000143549	tropomyosin 3
+ORPHANET:476394	PMP2-related Charcot-Marie-Tooth disease type 1	ENSEMBL:ENSG00000147588	peripheral myelin protein 2
+ORPHANET:493342	Vibratory urticaria	ENSEMBL:ENSG00000127507	adhesion G protein-coupled receptor E2
+ORPHANET:488642	TELO2-related intellectual disability-neurodevelopmental disorder	ENSEMBL:ENSG00000100726	telomere maintenance 2
+ORPHANET:488647	DDX41-related hematologic malignancy predisposition syndrome	ENSEMBL:ENSG00000183258	DEAD-box helicase 41
+ORPHANET:488650	Distal myopathy, Tateyama type	ENSEMBL:ENSG00000182533	caveolin 3
+ORPHANET:488618	Transketolase deficiency	ENSEMBL:ENSG00000163931	transketolase
+ORPHANET:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	ENSEMBL:ENSG00000110060	pseudouridine synthase 3
+ORPHANET:488632	TBCK-related intellectual disability syndrome	ENSEMBL:ENSG00000145348	TBC1 domain containing kinase
+ORPHANET:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	ENSEMBL:ENSG00000174227	phosphatidylinositol glycan anchor biosynthesis class G
+ORPHANET:488265	Osteofibrous dysplasia	ENSEMBL:ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase
+ORPHANET:488232	Split-foot malformation-mesoaxial polydactyly syndrome	ENSEMBL:ENSG00000091436	mitogen-activated protein kinase kinase kinase 20
+ORPHANET:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	ENSEMBL:ENSG00000170445	histidyl-tRNA synthetase 1
+ORPHANET:488437	SIX2-related frontonasal dysplasia	ENSEMBL:ENSG00000170577	SIX homeobox 2
+ORPHANET:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	ENSEMBL:ENSG00000078369	G protein subunit beta 1
+ORPHANET:488594	Autosomal recessive spastic paraplegia type 76	ENSEMBL:ENSG00000014216	calpain 1
+ORPHANET:488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	ENSEMBL:ENSG00000207935	microRNA 204
+ORPHANET:488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	ENSEMBL:ENSG00000052802	methylsterol monooxygenase 1
+ORPHANET:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	ENSEMBL:ENSG00000070831	cell division cycle 42
+ORPHANET:487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	ENSEMBL:ENSG00000062282	diacylglycerol O-acyltransferase 2
+ORPHANET:487825	Pierpont syndrome	ENSEMBL:ENSG00000177565	TBL1X/Y related 1
+ORPHANET:31150	Tangier disease	ENSEMBL:ENSG00000165029	ATP binding cassette subfamily A member 1
+ORPHANET:31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	ENSEMBL:ENSG00000113946	claudin 16
+ORPHANET:30924	Primary hypomagnesemia with secondary hypocalcemia	ENSEMBL:ENSG00000119121	transient receptor potential cation channel subfamily M member 6
+ORPHANET:30925	Hereditary central diabetes insipidus	ENSEMBL:ENSG00000101200	arginine vasopressin
+ORPHANET:476084	BVES-related limb-girdle muscular dystrophy	ENSEMBL:ENSG00000112276	blood vessel epicardial substance
+ORPHANET:476096	Erythrokeratodermia-cardiomyopathy syndrome	ENSEMBL:ENSG00000096696	desmoplakin
+ORPHANET:476093	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	ENSEMBL:ENSG00000152137	heat shock protein family B (small) member 8
+ORPHANET:71278	Congenital brain dysgenesis due to glutamine synthetase deficiency	ENSEMBL:ENSG00000135821	glutamate-ammonia ligase
+ORPHANET:71271	Split hand-split foot-deafness syndrome	ENSEMBL:ENSG00000105880	distal-less homeobox 5
+ORPHANET:71277	Classic glucose transporter type 1 deficiency syndrome	ENSEMBL:ENSG00000117394	solute carrier family 2 member 1
+ORPHANET:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000138796	hydroxyacyl-CoA dehydrogenase
+ORPHANET:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	ENSEMBL:ENSG00000198001	interleukin 1 receptor associated kinase 4
+ORPHANET:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	ENSEMBL:ENSG00000116096	sepiapterin reductase
+ORPHANET:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	ENSEMBL:ENSG00000138095	leucine rich pentatricopeptide repeat containing
+ORPHANET:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	ENSEMBL:ENSG00000203883	SRY-box transcription factor 18
+ORPHANET:69737	Bosley-Salih-Alorainy syndrome	ENSEMBL:ENSG00000105991	homeobox A1
+ORPHANET:69739	Athabaskan brainstem dysgenesis syndrome	ENSEMBL:ENSG00000105991	homeobox A1
+ORPHANET:69663	Low phospholipid-associated cholelithiasis	ENSEMBL:ENSG00000005471	ATP binding cassette subfamily B member 4
+ORPHANET:69723	Tyrosinemia type 3	ENSEMBL:ENSG00000158104	4-hydroxyphenylpyruvate dioxygenase
+ORPHANET:69127	NON RARE IN EUROPE: Immunoglobulin A deficiency	ENSEMBL:ENSG00000240505	TNF receptor superfamily member 13B
+ORPHANET:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	ENSEMBL:ENSG00000140368	proline-serine-threonine phosphatase interacting protein 1
+ORPHANET:69087	Naegeli-Franceschetti-Jadassohn syndrome	ENSEMBL:ENSG00000186847	keratin 14
+ORPHANET:69088	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	ENSEMBL:ENSG00000269335	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
+ORPHANET:69085	Limb-mammary syndrome	ENSEMBL:ENSG00000073282	tumor protein p63
+ORPHANET:69076	Familial renal glucosuria	ENSEMBL:ENSG00000140675	solute carrier family 5 member 2
+ORPHANET:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	ENSEMBL:ENSG00000196549	membrane metalloendopeptidase
+ORPHANET:67046	3-methylglutaconic aciduria type 1	ENSEMBL:ENSG00000148090	AU RNA binding methylglutaconyl-CoA hydratase
+ORPHANET:67044	Thrombocytopenia with congenital dyserythropoietic anemia	ENSEMBL:ENSG00000102145	GATA binding protein 1
+ORPHANET:67045	X-linked intellectual disability with isolated growth hormone deficiency	ENSEMBL:ENSG00000134595	SRY-box transcription factor 3
+ORPHANET:67042	Late-onset retinal degeneration	ENSEMBL:ENSG00000223953	C1q and TNF related 5
+ORPHANET:67041	Hyaluronidase deficiency	ENSEMBL:ENSG00000114378	hyaluronidase 1
+ORPHANET:67036	Autosomal dominant optic atrophy and cataract	ENSEMBL:ENSG00000125741	outer mitochondrial membrane lipid metabolism regulator OPA3
+ORPHANET:66637	Diaphanospondylodysostosis	ENSEMBL:ENSG00000164619	BMP binding endothelial regulator
+ORPHANET:66634	Dilated cardiomyopathy with ataxia	ENSEMBL:ENSG00000205981	DnaJ heat shock protein family (Hsp40) member C19
+ORPHANET:66631	CEDNIK syndrome	ENSEMBL:ENSG00000099940	synaptosome associated protein 29
+ORPHANET:66629	Goldberg-Shprintzen megacolon syndrome	ENSEMBL:ENSG00000198954	kinesin family binding protein
+ORPHANET:66628	Obesity due to congenital leptin deficiency	ENSEMBL:ENSG00000174697	leptin
+ORPHANET:65282	Carvajal syndrome	ENSEMBL:ENSG00000096696	desmoplakin
+ORPHANET:65285	Lhermitte-Duclos disease	ENSEMBL:ENSG00000171862	phosphatase and tensin homolog
+ORPHANET:65284	Biotin-thiamine-responsive basal ganglia disease	ENSEMBL:ENSG00000135917	solute carrier family 19 member 3
+ORPHANET:65287	Beta-ureidopropionase deficiency	ENSEMBL:ENSG00000100024	beta-ureidopropionase 1
+ORPHANET:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	ENSEMBL:ENSG00000168267	pancreas associated transcription factor 1a
+ORPHANET:65748	Multiple self-healing squamous epithelioma	ENSEMBL:ENSG00000106799	transforming growth factor beta receptor 1
+ORPHANET:65743	Autosomal dominant multiple pterygium syndrome	ENSEMBL:ENSG00000109063	myosin heavy chain 3
+ORPHANET:64751	Hereditary motor and sensory neuropathy type 5	ENSEMBL:ENSG00000116688	mitofusin 2
+ORPHANET:562509	Heme oxygenase-1 deficiency	ENSEMBL:ENSG00000100292	heme oxygenase 1
+ORPHANET:64754	Nevus comedonicus syndrome	ENSEMBL:ENSG00000119638	NIMA related kinase 9
+ORPHANET:562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	ENSEMBL:ENSG00000102452	sodium leak channel, non-selective
+ORPHANET:64755	Becker nevus syndrome	ENSEMBL:ENSG00000075624	actin beta
+ORPHANET:562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome	ENSEMBL:ENSG00000112320	sine oculis binding protein homolog
+ORPHANET:562538	Autosomal recessive extra-oral halitosis	ENSEMBL:ENSG00000143416	selenium binding protein 1
+ORPHANET:562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	ENSEMBL:ENSG00000177728	transmembrane protein 94
+ORPHANET:64739	Ovarian hyperstimulation syndrome	ENSEMBL:ENSG00000170820	follicle stimulating hormone receptor
+ORPHANET:63269	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	ENSEMBL:ENSG00000127948	cytochrome p450 oxidoreductase
+ORPHANET:63260	Craniorachischisis	ENSEMBL:ENSG00000165617	dishevelled binding antagonist of beta catenin 1
+ORPHANET:63442	Angel-shaped phalango-epiphyseal dysplasia	ENSEMBL:ENSG00000125965	growth differentiation factor 5
+ORPHANET:63273	Distal myopathy with posterior leg and anterior hand involvement	ENSEMBL:ENSG00000128591	filamin C
+ORPHANET:63446	Acrocapitofemoral dysplasia	ENSEMBL:ENSG00000163501	Indian hedgehog signaling molecule
+ORPHANET:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	ENSEMBL:ENSG00000121879	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
+ORPHANET:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	ENSEMBL:ENSG00000163347	claudin 1
+ORPHANET:59306	McLeod neuroacanthocytosis syndrome	ENSEMBL:ENSG00000047597	X-linked Kx blood group antigen, Kell and VPS13A binding protein
+ORPHANET:60025	Pulmonary alveolar microlithiasis	ENSEMBL:ENSG00000157765	solute carrier family 34 member 2
+ORPHANET:564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome	ENSEMBL:ENSG00000163399	ATPase Na+/K+ transporting subunit alpha 1
+ORPHANET:563708	Syndromic congenital sodium diarrhea	ENSEMBL:ENSG00000167642	serine peptidase inhibitor, Kunitz type 2
+ORPHANET:59181	Sorsby pseudoinflammatory fundus dystrophy	ENSEMBL:ENSG00000100234	TIMP metallopeptidase inhibitor 3
+ORPHANET:59135	Laing early-onset distal myopathy	ENSEMBL:ENSG00000092054	myosin heavy chain 7
+ORPHANET:58017	Classic hairy cell leukemia	ENSEMBL:ENSG00000157764	B-Raf proto-oncogene, serine/threonine kinase
+ORPHANET:57782	Mazabraud syndrome	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:55595	TNP03-related limb-girdle muscular dystrophy D2	ENSEMBL:ENSG00000064419	transportin 3
+ORPHANET:55596	HNRNPDL-related limb-girdle muscular dystrophy D3	ENSEMBL:ENSG00000152795	heterogeneous nuclear ribonucleoprotein D like
+ORPHANET:56304	Atelosteogenesis type II	ENSEMBL:ENSG00000155850	solute carrier family 26 member 2
+ORPHANET:56305	Atelosteogenesis type III	ENSEMBL:ENSG00000136068	filamin B
+ORPHANET:55880	Chondrosarcoma	ENSEMBL:ENSG00000182197	exostosin glycosyltransferase 1
+ORPHANET:565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome	ENSEMBL:ENSG00000138814	protein phosphatase 3 catalytic subunit alpha
+ORPHANET:565788	Infantile inflammatory bowel disease with neurological involvement	ENSEMBL:ENSG00000105329	transforming growth factor beta 1
+ORPHANET:565909	Calpain-3-related limb-girdle muscular dystrophy D4	ENSEMBL:ENSG00000092529	calpain 3
+ORPHANET:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	ENSEMBL:ENSG00000165704	hypoxanthine phosphoribosyltransferase 1
+ORPHANET:79237	Galactokinase deficiency	ENSEMBL:ENSG00000108479	galactokinase 1
+ORPHANET:566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	ENSEMBL:ENSG00000092067	CCAAT enhancer binding protein epsilon
+ORPHANET:79234	Crigler-Najjar syndrome type 1	ENSEMBL:ENSG00000241635	UDP glucuronosyltransferase family 1 member A1
+ORPHANET:79235	Crigler-Najjar syndrome type 2	ENSEMBL:ENSG00000241635	UDP glucuronosyltransferase family 1 member A1
+ORPHANET:565624	Combined oxidative phosphorylation defect type 39	ENSEMBL:ENSG00000164347	GTP dependent ribosome recycling factor mitochondrial 2
+ORPHANET:565612	Primary triglyceride deposit cardiomyovasculopathy	ENSEMBL:ENSG00000177666	patatin like phospholipase domain containing 2
+ORPHANET:79157	2-methylbutyryl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000196177	acyl-CoA dehydrogenase short/branched chain
+ORPHANET:79155	Hydroxykynureninuria	ENSEMBL:ENSG00000115919	kynureninase
+ORPHANET:79154	2-aminoadipic 2-oxoadipic aciduria	ENSEMBL:ENSG00000181192	dehydrogenase E1 and transketolase domain containing 1
+ORPHANET:79151	Acrokeratosis verruciformis of Hopf	ENSEMBL:ENSG00000174437	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
+ORPHANET:79146	Familial progressive hyperpigmentation	ENSEMBL:ENSG00000049130	KIT ligand
+ORPHANET:79159	Isobutyryl-CoA dehydrogenase deficiency	ENSEMBL:ENSG00000151498	acyl-CoA dehydrogenase family member 8
+ORPHANET:79107	Developmental malformations-deafness-dystonia syndrome	ENSEMBL:ENSG00000075624	actin beta
+ORPHANET:566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	ENSEMBL:ENSG00000126351	thyroid hormone receptor alpha
+ORPHANET:79106	Eiken syndrome	ENSEMBL:ENSG00000160801	parathyroid hormone 1 receptor
+ORPHANET:566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	ENSEMBL:ENSG00000151090	thyroid hormone receptor beta
+ORPHANET:79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	ENSEMBL:ENSG00000107249	GLIS family zinc finger 3
+ORPHANET:566393	Acute mast cell leukemia	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:79113	Mandibulofacial dysostosis-microcephaly syndrome	ENSEMBL:ENSG00000108883	elongation factor Tu GTP binding domain containing 2
+ORPHANET:79101	Hyperprolinemia type 2	ENSEMBL:ENSG00000159423	aldehyde dehydrogenase 4 family member A1
+ORPHANET:566192	Congenital autosomal recessive small-platelet thrombocytopenia	ENSEMBL:ENSG00000082074	FYN binding protein 1
+ORPHANET:79100	Atrophoderma vermiculata	ENSEMBL:ENSG00000123384	LDL receptor related protein 1
+ORPHANET:79095	Congenital bile acid synthesis defect type 4	ENSEMBL:ENSG00000242110	alpha-methylacyl-CoA racemase
+ORPHANET:79094	Grange syndrome	ENSEMBL:ENSG00000163374	YY1 associated protein 1
+ORPHANET:566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	ENSEMBL:ENSG00000196352	CD55 molecule (Cromer blood group)
+ORPHANET:79096	Pyridoxal phosphate-responsive seizures	ENSEMBL:ENSG00000108439	pyridoxamine 5'-phosphate oxidase
+ORPHANET:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	ENSEMBL:ENSG00000156113	potassium calcium-activated channel subfamily M alpha 1
+ORPHANET:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	ENSEMBL:ENSG00000135899	SP110 nuclear body protein
+ORPHANET:566396	Chronic mast cell leukemia	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:77293	Chronic visceral acid sphingomyelinase deficiency	ENSEMBL:ENSG00000166311	sphingomyelin phosphodiesterase 1
+ORPHANET:77295	Odontoleukodystrophy	ENSEMBL:ENSG00000148606	RNA polymerase III subunit A
+ORPHANET:77261	Gaucher disease type 3	ENSEMBL:ENSG00000177628	glucosylceramidase beta 1
+ORPHANET:77292	Infantile neurovisceral acid sphingomyelinase deficiency	ENSEMBL:ENSG00000166311	sphingomyelin phosphodiesterase 1
+ORPHANET:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	ENSEMBL:ENSG00000181449	SRY-box transcription factor 2
+ORPHANET:77297	Majeed syndrome	ENSEMBL:ENSG00000101577	lipin 2
+ORPHANET:567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	ENSEMBL:ENSG00000077097	DNA topoisomerase II beta
+ORPHANET:77301	Monosomy 9q22.3	ENSEMBL:ENSG00000185920	patched 1
+ORPHANET:79083	PPARG-related familial partial lipodystrophy	ENSEMBL:ENSG00000132170	peroxisome proliferator activated receptor gamma
+ORPHANET:79087	Acquired partial lipodystrophy	ENSEMBL:ENSG00000176619	lamin B2
+ORPHANET:79085	AKT2-related familial partial lipodystrophy	ENSEMBL:ENSG00000105221	AKT serine/threonine kinase 2
+ORPHANET:79084	Familial partial lipodystrophy, Köbberling type	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	ENSEMBL:ENSG00000125414	myosin heavy chain 2
+ORPHANET:75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	ENSEMBL:ENSG00000104738	minichromosome maintenance complex component 4
+ORPHANET:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	ENSEMBL:ENSG00000027847	beta-1,4-galactosyltransferase 7
+ORPHANET:75497	X-linked Ehlers-Danlos syndrome	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:75563	X-linked sideroblastic anemia	ENSEMBL:ENSG00000158578	5'-aminolevulinate synthase 2
+ORPHANET:75857	6q terminal deletion syndrome	ENSEMBL:ENSG00000130023	ER membrane associated RNA degradation
+ORPHANET:75858	MORM syndrome	ENSEMBL:ENSG00000148384	inositol polyphosphate-5-phosphatase E
+ORPHANET:77258	Trichorhinophalangeal syndrome type 1 and 3	ENSEMBL:ENSG00000104447	transcriptional repressor GATA binding 1
+ORPHANET:77260	Gaucher disease type 2	ENSEMBL:ENSG00000177628	glucosylceramidase beta 1
+ORPHANET:569821	Congenital primary lymphedema of Gordon	ENSEMBL:ENSG00000150630	vascular endothelial growth factor C
+ORPHANET:73272	Growth delay due to insulin-like growth factor type 1 deficiency	ENSEMBL:ENSG00000017427	insulin like growth factor 1
+ORPHANET:73273	Growth delay due to insulin-like growth factor I resistance	ENSEMBL:ENSG00000140443	insulin like growth factor 1 receptor
+ORPHANET:75326	Retinal arterial tortuosity	ENSEMBL:ENSG00000187498	collagen type IV alpha 1 chain
+ORPHANET:75234	Cholesteryl ester storage disease	ENSEMBL:ENSG00000107798	lipase A, lysosomal acid type
+ORPHANET:75233	Wolman disease	ENSEMBL:ENSG00000107798	lipase A, lysosomal acid type
+ORPHANET:71526	Obesity due to pro-opiomelanocortin deficiency	ENSEMBL:ENSG00000115138	proopiomelanocortin
+ORPHANET:71528	Obesity due to prohormone convertase I deficiency	ENSEMBL:ENSG00000175426	proprotein convertase subtilisin/kexin type 1
+ORPHANET:71529	Obesity due to melanocortin 4 receptor deficiency	ENSEMBL:ENSG00000166603	melanocortin 4 receptor
+ORPHANET:71517	Rapid-onset dystonia-parkinsonism	ENSEMBL:ENSG00000105409	ATPase Na+/K+ transporting subunit alpha 3
+ORPHANET:71518	Benign paroxysmal torticollis of infancy	ENSEMBL:ENSG00000141837	calcium voltage-gated channel subunit alpha1 A
+ORPHANET:569274	Multiple mitochondrial dysfunctions syndrome type 5	ENSEMBL:ENSG00000135070	iron-sulfur cluster assembly 1
+ORPHANET:569290	Multiple mitochondrial dysfunctions syndrome type 6	ENSEMBL:ENSG00000105819	peptidase, mitochondrial processing subunit beta
+ORPHANET:569248	Microcystic stromal tumor	ENSEMBL:ENSG00000168036	catenin beta 1
+ORPHANET:73229	HANAC syndrome	ENSEMBL:ENSG00000187498	collagen type IV alpha 1 chain
+ORPHANET:40050	NON RARE IN EUROPE: Psoriatic arthritis	ENSEMBL:ENSG00000232810	tumor necrosis factor
+ORPHANET:530849	Familial apolipoprotein A5 deficiency	ENSEMBL:ENSG00000110243	apolipoprotein A5
+ORPHANET:530838	KRT1-related diffuse nonepidermolytic keratoderma	ENSEMBL:ENSG00000167768	keratin 1
+ORPHANET:38874	Dihydropyrimidinuria	ENSEMBL:ENSG00000147647	dihydropyrimidinase
+ORPHANET:530303	Progressive dementia with neuroserpin inclusion bodies	ENSEMBL:ENSG00000163536	serpin family I member 1
+ORPHANET:37612	Episodic ataxia type 1	ENSEMBL:ENSG00000111262	potassium voltage-gated channel subfamily A member 1
+ORPHANET:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	ENSEMBL:ENSG00000049768	forkhead box P3
+ORPHANET:41751	Bietti crystalline dystrophy	ENSEMBL:ENSG00000145476	cytochrome P450 family 4 subfamily V member 2
+ORPHANET:35706	Glutaric acidemia type 3	ENSEMBL:ENSG00000175600	succinyl-CoA:glutarate-CoA transferase
+ORPHANET:35704	L-Arginine:glycine amidinotransferase deficiency	ENSEMBL:ENSG00000171766	glycine amidinotransferase
+ORPHANET:35710	Glucose-galactose malabsorption	ENSEMBL:ENSG00000100170	solute carrier family 5 member 1
+ORPHANET:35737	Morning glory disc anomaly	ENSEMBL:ENSG00000007372	paired box 6
+ORPHANET:35708	Aromatic L-amino acid decarboxylase deficiency	ENSEMBL:ENSG00000132437	dopa decarboxylase
+ORPHANET:35689	Primary lateral sclerosis	ENSEMBL:ENSG00000197912	SPG7 matrix AAA peptidase subunit, paraplegin
+ORPHANET:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	ENSEMBL:ENSG00000134240	3-hydroxy-3-methylglutaryl-CoA synthase 2
+ORPHANET:35173	X-linked dominant chondrodysplasia punctata	ENSEMBL:ENSG00000147155	EBP cholestenol delta-isomerase
+ORPHANET:35664	ALDH18A1-related De Barsy syndrome	ENSEMBL:ENSG00000059573	aldehyde dehydrogenase 18 family member A1
+ORPHANET:35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	ENSEMBL:ENSG00000122643	5'-nucleotidase, cytosolic IIIA
+ORPHANET:35107	Desmosterolosis	ENSEMBL:ENSG00000116133	24-dehydrocholesterol reductase
+ORPHANET:35122	Congenital sucrase-isomaltase deficiency	ENSEMBL:ENSG00000090402	sucrase-isomaltase
+ORPHANET:36412	Hypocomplementemic urticarial vasculitis	ENSEMBL:ENSG00000163687	deoxyribonuclease 1 like 3
+ORPHANET:36355	Bleeding disorder due to P2Y12 defect	ENSEMBL:ENSG00000169313	purinergic receptor P2Y12
+ORPHANET:36367	Distal monosomy 1q	ENSEMBL:ENSG00000179456	zinc finger and BTB domain containing 18
+ORPHANET:36383	COL4A1-related familial vascular leukoencephalopathy	ENSEMBL:ENSG00000187498	collagen type IV alpha 1 chain
+ORPHANET:35878	Hyperinsulinism-hyperammonemia syndrome	ENSEMBL:ENSG00000148672	glutamate dehydrogenase 1
+ORPHANET:33572	5-oxoprolinase deficiency	ENSEMBL:ENSG00000178814	5-oxoprolinase, ATP-hydrolysing
+ORPHANET:33543	Kleine-Levin syndrome	ENSEMBL:ENSG00000168016	tetratricopeptide repeat and ankyrin repeat containing 1
+ORPHANET:33445	Neuroectodermal melanolysosomal disease	ENSEMBL:ENSG00000197535	myosin VA
+ORPHANET:535458	Familial GPIHBP1 deficiency	ENSEMBL:ENSG00000277494	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
+ORPHANET:34217	Naxos disease	ENSEMBL:ENSG00000173801	junction plakoglobin
+ORPHANET:34145	NON RARE IN EUROPE: Berger disease	ENSEMBL:ENSG00000159640	angiotensin I converting enzyme
+ORPHANET:33574	Glutamate-cysteine ligase deficiency	ENSEMBL:ENSG00000001084	glutamate-cysteine ligase catalytic subunit
+ORPHANET:33573	Gamma-glutamyl transpeptidase deficiency	ENSEMBL:ENSG00000100031	gamma-glutamyltransferase 1
+ORPHANET:33067	Metaphyseal chondrodysplasia, Jansen type	ENSEMBL:ENSG00000160801	parathyroid hormone 1 receptor
+ORPHANET:33001	Lymphedema-distichiasis syndrome	ENSEMBL:ENSG00000176692	forkhead box C2
+ORPHANET:33355	Reticular dysgenesis	ENSEMBL:ENSG00000004455	adenylate kinase 2
+ORPHANET:535453	Familial lipase maturation factor 1 deficiency	ENSEMBL:ENSG00000103227	lipase maturation factor 1
+ORPHANET:33226	Waldenström macroglobulinemia	ENSEMBL:ENSG00000172936	MYD88 innate immune signal transduction adaptor
+ORPHANET:35056	NON RARE IN EUROPE: Trimethylaminuria	ENSEMBL:ENSG00000007933	flavin containing dimethylaniline monoxygenase 3
+ORPHANET:35069	Infantile neuroaxonal dystrophy	ENSEMBL:ENSG00000184381	phospholipase A2 group VI
+ORPHANET:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	ENSEMBL:ENSG00000105639	Janus kinase 3
+ORPHANET:34520	Congenital muscular dystrophy with integrin alpha-7 deficiency	ENSEMBL:ENSG00000135424	integrin subunit alpha 7
+ORPHANET:34514	Telethonin-related limb-girdle muscular dystrophy R7	ENSEMBL:ENSG00000173991	titin-cap
+ORPHANET:34515	FKRP-related limb-girdle muscular dystrophy R9	ENSEMBL:ENSG00000181027	fukutin related protein
+ORPHANET:34516	DNAJB6-related limb-girdle muscular dystrophy D1	ENSEMBL:ENSG00000105993	DnaJ heat shock protein family (Hsp40) member B6
+ORPHANET:34587	Glycogen storage disease due to LAMP-2 deficiency	ENSEMBL:ENSG00000005893	lysosomal associated membrane protein 2
+ORPHANET:34528	Autosomal dominant primary hypomagnesemia with hypocalciuria	ENSEMBL:ENSG00000137731	FXYD domain containing ion transport regulator 2
+ORPHANET:536516	Myopathic Ehlers-Danlos syndrome	ENSEMBL:ENSG00000111799	collagen type XII alpha 1 chain
+ORPHANET:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	ENSEMBL:ENSG00000176022	beta-1,3-galactosyltransferase 6
+ORPHANET:536532	Classical-like Ehlers-Danlos syndrome type 2	ENSEMBL:ENSG00000106624	AE binding protein 1
+ORPHANET:537072	PLG-related hereditary angioedema with normal C1Inh	ENSEMBL:ENSG00000122194	plasminogen
+ORPHANET:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	ENSEMBL:ENSG00000067182	TNF receptor superfamily member 1A
+ORPHANET:52530	Pseudo-von Willebrand disease	ENSEMBL:ENSG00000185245	glycoprotein Ib platelet subunit alpha
+ORPHANET:52503	X-linked creatine transporter deficiency	ENSEMBL:ENSG00000130821	solute carrier family 6 member 8
+ORPHANET:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	ENSEMBL:ENSG00000089289	immunoglobulin binding protein 1
+ORPHANET:52368	Mohr-Tranebjaerg syndrome	ENSEMBL:ENSG00000126953	translocase of inner mitochondrial membrane 8A
+ORPHANET:53271	Muenke syndrome	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:53347	Brody myopathy	ENSEMBL:ENSG00000196296	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
+ORPHANET:53035	Caroli disease	ENSEMBL:ENSG00000170927	PKHD1 ciliary IPT domain containing fibrocystin/polyductin
+ORPHANET:52901	Isolated follicle stimulating hormone deficiency	ENSEMBL:ENSG00000131808	follicle stimulating hormone subunit beta
+ORPHANET:53690	Congenital lactase deficiency	ENSEMBL:ENSG00000115850	lactase
+ORPHANET:53689	Congenital chloride diarrhea	ENSEMBL:ENSG00000091138	solute carrier family 26 member 3
+ORPHANET:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	ENSEMBL:ENSG00000117394	solute carrier family 2 member 1
+ORPHANET:53540	Goldmann-Favre syndrome	ENSEMBL:ENSG00000278570	nuclear receptor subfamily 2 group E member 3
+ORPHANET:53351	X-linked dystonia-parkinsonism	ENSEMBL:ENSG00000147133	TATA-box binding protein associated factor 1
+ORPHANET:538934	X-linked lymphoproliferative disease due to XIAP deficiency	ENSEMBL:ENSG00000101966	X-linked inhibitor of apoptosis
+ORPHANET:538931	X-linked lymphoproliferative disease due to SH2D1A deficiency	ENSEMBL:ENSG00000183918	SH2 domain containing 1A
+ORPHANET:53698	Myosin storage myopathy	ENSEMBL:ENSG00000092054	myosin heavy chain 7
+ORPHANET:53696	Arthrogryposis-anterior horn cell disease syndrome	ENSEMBL:ENSG00000119392	GLE1 RNA export mediator
+ORPHANET:53697	Gnathodiaphyseal dysplasia	ENSEMBL:ENSG00000171714	anoctamin 5
+ORPHANET:53691	Congenital cornea plana	ENSEMBL:ENSG00000139330	keratocan
+ORPHANET:53693	GRACILE syndrome	ENSEMBL:ENSG00000074582	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
+ORPHANET:48818	Aceruloplasminemia	ENSEMBL:ENSG00000047457	ceruloplasmin
+ORPHANET:538958	Combined immunodeficiency due to CD70 deficiency	ENSEMBL:ENSG00000125726	CD70 molecule
+ORPHANET:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	ENSEMBL:ENSG00000060069	CTD phosphatase subunit 1
+ORPHANET:538963	Combined immunodeficiency due to ITK deficiency	ENSEMBL:ENSG00000113263	IL2 inducible T cell kinase
+ORPHANET:48652	Monosomy 22q13.3	ENSEMBL:ENSG00000251322	SH3 and multiple ankyrin repeat domains 3
+ORPHANET:50814	Craniolenticulosutural dysplasia	ENSEMBL:ENSG00000100934	SEC23 homolog A, COPII coat complex component
+ORPHANET:49827	Thiamine-responsive megaloblastic anemia syndrome	ENSEMBL:ENSG00000117479	solute carrier family 19 member 2
+ORPHANET:50251	Pleural mesothelioma	ENSEMBL:ENSG00000163930	BRCA1 associated protein 1
+ORPHANET:50945	Blomstrand lethal chondrodysplasia	ENSEMBL:ENSG00000160801	parathyroid hormone 1 receptor
+ORPHANET:50944	Schöpf-Schulz-Passarge syndrome	ENSEMBL:ENSG00000135925	Wnt family member 10A
+ORPHANET:50943	Keratolytic winter erythema	ENSEMBL:ENSG00000164733	cathepsin B
+ORPHANET:51188	Ethylmalonic encephalopathy	ENSEMBL:ENSG00000105755	ETHE1 persulfide dioxygenase
+ORPHANET:541423	Growth delay-intellectual disability-hepatopathy syndrome	ENSEMBL:ENSG00000196305	isoleucyl-tRNA synthetase 1
+ORPHANET:51208	Formiminoglutamic aciduria	ENSEMBL:ENSG00000160282	formimidoyltransferase cyclodeaminase
+ORPHANET:51636	WHIM syndrome	ENSEMBL:ENSG00000121966	C-X-C motif chemokine receptor 4
+ORPHANET:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	ENSEMBL:ENSG00000069966	G protein subunit beta 5
+ORPHANET:542301	Combined immunodeficiency due to CARMIL2 deficiency	ENSEMBL:ENSG00000159753	capping protein regulator and myosin 1 linker 2
+ORPHANET:542310	Leukoencephalopathy with calcifications and cysts	ENSEMBL:ENSG00000200463	small nucleolar RNA, C/D box 118
+ORPHANET:42665	Tietz syndrome	ENSEMBL:ENSG00000187098	melanocyte inducing transcription factor
+ORPHANET:542585	Auditory neuropathy-optic atrophy syndrome	ENSEMBL:ENSG00000161513	ferredoxin reductase
+ORPHANET:43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency	ENSEMBL:ENSG00000136003	iron-sulfur cluster assembly enzyme
+ORPHANET:45448	Miyoshi myopathy	ENSEMBL:ENSG00000135636	dysferlin
+ORPHANET:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	ENSEMBL:ENSG00000161513	ferredoxin reductase
+ORPHANET:542657	Isolated hyperchlorhidrosis	ENSEMBL:ENSG00000074410	carbonic anhydrase 12
+ORPHANET:544254	SYNGAP1-related developmental and epileptic encephalopathy	ENSEMBL:ENSG00000197283	synaptic Ras GTPase activating protein 1
+ORPHANET:46059	Lathosterolosis	ENSEMBL:ENSG00000109929	sterol-C5-desaturase
+ORPHANET:47044	Hereditary papillary renal cell carcinoma	ENSEMBL:ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase
+ORPHANET:46627	Char syndrome	ENSEMBL:ENSG00000008196	transcription factor AP-2 beta
+ORPHANET:544503	RNF13-related severe early-onset epileptic encephalopathy	ENSEMBL:ENSG00000082996	ring finger protein 13
+ORPHANET:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	ENSEMBL:ENSG00000115758	ornithine decarboxylase 1
+ORPHANET:544469	PRUNE1-related neurological syndrome	ENSEMBL:ENSG00000143363	prune exopolyphosphatase 1
+ORPHANET:47045	Familial cold urticaria	ENSEMBL:ENSG00000162711	NLR family pyrin domain containing 3
+ORPHANET:544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	ENSEMBL:ENSG00000101076	hepatocyte nuclear factor 4 alpha
+ORPHANET:544602	Congenital myopathy with reduced type 2 muscle fibers	ENSEMBL:ENSG00000168530	myosin light chain 1
+ORPHANET:555402	NAD(P)HX dehydratase deficiency	ENSEMBL:ENSG00000213995	NAD(P)HX dehydratase
+ORPHANET:555407	NAD(P)HX epimerase deficiency	ENSEMBL:ENSG00000163382	NAD(P)HX epimerase
+ORPHANET:555877	FLNA-related X-linked myxomatous valvular dysplasia	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:556030	Early-onset familial hypoaldosteronism	ENSEMBL:ENSG00000179142	cytochrome P450 family 11 subfamily B member 2
+ORPHANET:556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	ENSEMBL:ENSG00000182578	colony stimulating factor 1 receptor
+ORPHANET:556955	Pancreatic agenesis-holoprosencephaly syndrome	ENSEMBL:ENSG00000125107	CCR4-NOT transcription complex subunit 1
+ORPHANET:557064	Neonatal epileptic encephalopathy due to glutaminase deficiency	ENSEMBL:ENSG00000115419	glutaminase
+ORPHANET:557056	Spastic ataxia-dysarthria due to glutaminase deficiency	ENSEMBL:ENSG00000115419	glutaminase
+ORPHANET:557003	Oculoskeletodental syndrome	ENSEMBL:ENSG00000011405	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
+ORPHANET:519388	Autosomal recessive anterior segment dysgenesis	ENSEMBL:ENSG00000160111	C3 and PZP like alpha-2-macroglobulin domain containing 8
+ORPHANET:90045	Hereditary folate malabsorption	ENSEMBL:ENSG00000076351	solute carrier family 46 member 1
+ORPHANET:90039	Hemoglobin D disease	ENSEMBL:ENSG00000244734	hemoglobin subunit beta
+ORPHANET:90044	Familial pseudohyperkalemia	ENSEMBL:ENSG00000115657	ATP binding cassette subfamily B member 6 (Langereis blood group)
+ORPHANET:90042	Primary familial polycythemia	ENSEMBL:ENSG00000187266	erythropoietin receptor
+ORPHANET:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	ENSEMBL:ENSG00000186895	fibroblast growth factor 3
+ORPHANET:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	ENSEMBL:ENSG00000116586	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
+ORPHANET:90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency	ENSEMBL:ENSG00000156515	hexokinase 1
+ORPHANET:90030	Hemolytic anemia due to glutathione reductase deficiency	ENSEMBL:ENSG00000104687	glutathione-disulfide reductase
+ORPHANET:89936	X-linked hypophosphatemia	ENSEMBL:ENSG00000102174	phosphate regulating endopeptidase X-linked
+ORPHANET:89843	Dystrophic epidermolysis bullosa pruriginosa	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:89937	Autosomal dominant hypophosphatemic rickets	ENSEMBL:ENSG00000118972	fibroblast growth factor 23
+ORPHANET:90340	Blau syndrome	ENSEMBL:ENSG00000167207	nucleotide binding oligomerization domain containing 2
+ORPHANET:90342	Xeroderma pigmentosum variant	ENSEMBL:ENSG00000170734	DNA polymerase eta
+ORPHANET:90308	Klippel-Trénaunay syndrome	ENSEMBL:ENSG00000164252	angiogenic factor with G-patch and FHA domains 1
+ORPHANET:90307	Parkes Weber syndrome	ENSEMBL:ENSG00000145715	RAS p21 protein activator 1
+ORPHANET:90154	Mandibuloacral dysplasia with type B lipodystrophy	ENSEMBL:ENSG00000084073	zinc metallopeptidase STE24
+ORPHANET:90186	Meige disease	ENSEMBL:ENSG00000196411	EPH receptor B4
+ORPHANET:90118	Severe early-onset axonal neuropathy due to MFN2 deficiency	ENSEMBL:ENSG00000116688	mitofusin 2
+ORPHANET:90117	Hereditary motor and sensory neuropathy, Okinawa type	ENSEMBL:ENSG00000114354	trafficking from ER to golgi regulator
+ORPHANET:88644	Autosomal recessive ataxia, Beauce type	ENSEMBL:ENSG00000131018	spectrin repeat containing nuclear envelope protein 1
+ORPHANET:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	ENSEMBL:ENSG00000198130	3-hydroxyisobutyryl-CoA hydrolase
+ORPHANET:88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	ENSEMBL:ENSG00000143318	calsequestrin 1
+ORPHANET:88621	Ichthyosis-prematurity syndrome	ENSEMBL:ENSG00000167114	solute carrier family 27 member 4
+ORPHANET:88628	Posterior column ataxia-retinitis pigmentosa syndrome	ENSEMBL:ENSG00000162769	FLVCR heme transporter 1
+ORPHANET:88629	Tritanopia	ENSEMBL:ENSG00000128617	opsin 1, short wave sensitive
+ORPHANET:88630	Terminal osseous dysplasia-pigmentary defects syndrome	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:88619	Familial acute necrotizing encephalopathy	ENSEMBL:ENSG00000153201	RAN binding protein 2
+ORPHANET:88618	S-adenosylhomocysteine hydrolase deficiency	ENSEMBL:ENSG00000101444	adenosylhomocysteinase
+ORPHANET:87503	Mal de Meleda	ENSEMBL:ENSG00000126233	secreted LY6/PLAUR domain containing 1
+ORPHANET:86920	Dermatopathia pigmentosa reticularis	ENSEMBL:ENSG00000186847	keratin 14
+ORPHANET:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	ENSEMBL:ENSG00000067715	synaptotagmin 1
+ORPHANET:86911	Epilepsy with myoclonic absences	ENSEMBL:ENSG00000117394	solute carrier family 2 member 1
+ORPHANET:521450	LAMA5-related multisystemic syndrome	ENSEMBL:ENSG00000130702	laminin subunit alpha 5
+ORPHANET:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	ENSEMBL:ENSG00000178031	ADAMTS like 1
+ORPHANET:521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	ENSEMBL:ENSG00000001630	cytochrome P450 family 51 subfamily A member 1
+ORPHANET:521426	PLAA-associated neurodevelopmental disorder	ENSEMBL:ENSG00000137055	phospholipase A2 activating protein
+ORPHANET:521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD	ENSEMBL:ENSG00000163399	ATPase Na+/K+ transporting subunit alpha 1
+ORPHANET:521258	Xq25 microduplication syndrome	ENSEMBL:ENSG00000101972	stromal antigen 2
+ORPHANET:521305	Proximal myopathy with focal depletion of mitochondria	ENSEMBL:ENSG00000100288	choline kinase beta
+ORPHANET:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	ENSEMBL:ENSG00000134313	kinase D interacting substrate 220
+ORPHANET:521399	NON RARE IN EUROPE: Non rare obesity	ENSEMBL:ENSG00000171435	kinase suppressor of ras 2
+ORPHANET:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	ENSEMBL:ENSG00000104635	solute carrier family 39 member 14
+ORPHANET:89838	Autosomal recessive generalized epidermolysis bullosa simplex	ENSEMBL:ENSG00000186847	keratin 14
+ORPHANET:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	ENSEMBL:ENSG00000284194	synthesis of cytochrome C oxidase 2
+ORPHANET:88949	MUC1-related autosomal dominant tubulointerstitial kidney disease	ENSEMBL:ENSG00000185499	mucin 1, cell surface associated
+ORPHANET:88950	UMOD-related autosomal dominant tubulointerstitial kidney disease	ENSEMBL:ENSG00000169344	uromodulin
+ORPHANET:88940	Pseudohypoaldosteronism type 2C	ENSEMBL:ENSG00000060237	WNK lysine deficient protein kinase 1
+ORPHANET:88939	Pseudohypoaldosteronism type 2B	ENSEMBL:ENSG00000126562	WNK lysine deficient protein kinase 4
+ORPHANET:88917	X-linked Alport syndrome	ENSEMBL:ENSG00000188153	collagen type IV alpha 5 chain
+ORPHANET:93256	Fragile X-associated tremor/ataxia syndrome	ENSEMBL:ENSG00000102081	fragile X messenger ribonucleoprotein 1
+ORPHANET:528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	ENSEMBL:ENSG00000134873	claudin 10
+ORPHANET:528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	ENSEMBL:ENSG00000011376	leucyl-tRNA synthetase 2, mitochondrial
+ORPHANET:93262	Crouzon syndrome-acanthosis nigricans syndrome	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:93260	Pfeiffer syndrome type 3	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:93259	Pfeiffer syndrome type 2	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:93270	Short rib-polydactyly syndrome, Saldino-Noonan type	ENSEMBL:ENSG00000187240	dynein cytoplasmic 2 heavy chain 1
+ORPHANET:93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type	ENSEMBL:ENSG00000198682	3'-phosphoadenosine 5'-phosphosulfate synthase 2
+ORPHANET:93283	Spondyloepiphyseal dysplasia, Kimberley type	ENSEMBL:ENSG00000157766	aggrecan
+ORPHANET:93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:93276	Polyostotic fibrous dysplasia	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:93277	Monostotic fibrous dysplasia	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:93274	Thanatophoric dysplasia type 2	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	ENSEMBL:ENSG00000148826	NK6 homeobox 2
+ORPHANET:93110	Posterior urethral valve	ENSEMBL:ENSG00000173068	basonuclin 2
+ORPHANET:527450	Severe myopia-generalized joint laxity-short stature syndrome	ENSEMBL:ENSG00000125812	GDNF inducible zinc finger protein 1
+ORPHANET:527468	Diaphragmatic hernia-short bowel-asplenia syndrome	ENSEMBL:ENSG00000136630	H2.0 like homeobox
+ORPHANET:93160	Hypocalcemic vitamin D-resistant rickets	ENSEMBL:ENSG00000111424	vitamin D receptor
+ORPHANET:93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	ENSEMBL:ENSG00000203485	inverted formin, FH2 and WH2 domain containing
+ORPHANET:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:93172	Renal dysplasia, unilateral	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:93173	Renal dysplasia, bilateral	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:93322	Tibial hemimelia	ENSEMBL:ENSG00000106571	GLI family zinc finger 3
+ORPHANET:93325	Autosomal dominant Kenny-Caffey syndrome	ENSEMBL:ENSG00000166801	FAM111 trypsin like peptidase A
+ORPHANET:93324	Autosomal recessive Kenny-Caffey syndrome	ENSEMBL:ENSG00000284770	tubulin folding cofactor E
+ORPHANET:93329	Autosomal recessive omodysplasia	ENSEMBL:ENSG00000183098	glypican 6
+ORPHANET:93328	Autosomal dominant omodysplasia	ENSEMBL:ENSG00000180340	frizzled class receptor 2
+ORPHANET:93333	Pelviscapular dysplasia	ENSEMBL:ENSG00000092607	T-box transcription factor 15
+ORPHANET:93339	Polydactyly of a biphalangeal thumb	ENSEMBL:ENSG00000111087	GLI family zinc finger 1
+ORPHANET:93338	Polysyndactyly	ENSEMBL:ENSG00000106571	GLI family zinc finger 3
+ORPHANET:93349	X-linked spondyloepimetaphyseal dysplasia	ENSEMBL:ENSG00000182492	biglycan
+ORPHANET:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:93356	Spondyloepimetaphyseal dysplasia, Missouri type	ENSEMBL:ENSG00000137745	matrix metallopeptidase 13
+ORPHANET:93352	Spondyloepimetaphyseal dysplasia, Shohat type	ENSEMBL:ENSG00000198171	DDRGK domain containing 1
+ORPHANET:93284	Spondyloepiphyseal dysplasia tarda	ENSEMBL:ENSG00000196459	trafficking protein particle complex subunit 2
+ORPHANET:93296	Achondrogenesis type 2	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:93298	Achondrogenesis type 1B	ENSEMBL:ENSG00000155850	solute carrier family 26 member 2
+ORPHANET:93297	Hypochondrogenesis	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:93299	Achondrogenesis type 1A	ENSEMBL:ENSG00000100815	thyroid hormone receptor interactor 11
+ORPHANET:93304	Autosomal dominant brachyolmia	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:93307	Multiple epiphyseal dysplasia type 4	ENSEMBL:ENSG00000155850	solute carrier family 26 member 2
+ORPHANET:93308	Multiple epiphyseal dysplasia type 1	ENSEMBL:ENSG00000105664	cartilage oligomeric matrix protein
+ORPHANET:93311	Multiple epiphyseal dysplasia type 5	ENSEMBL:ENSG00000132031	matrilin 3
+ORPHANET:93314	Spondylometaphyseal dysplasia, Kozlowski type	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:93316	Spondylometaphyseal dysplasia, Schmidt type	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:93317	Spondylometaphyseal dysplasia, Sedaghatian type	ENSEMBL:ENSG00000167468	glutathione peroxidase 4
+ORPHANET:90673	Hypothyroidism due to TSH receptor mutations	ENSEMBL:ENSG00000165409	thyroid stimulating hormone receptor
+ORPHANET:90674	Isolated thyroid-stimulating hormone deficiency	ENSEMBL:ENSG00000134200	thyroid stimulating hormone subunit beta
+ORPHANET:529831	Letrozole toxicity	ENSEMBL:ENSG00000255974	cytochrome P450 family 2 subfamily A member 6
+ORPHANET:529819	NON RARE IN EUROPE: Exfoliation syndrome	ENSEMBL:ENSG00000129038	lysyl oxidase like 1
+ORPHANET:90658	Charcot-Marie-Tooth disease type 1E	ENSEMBL:ENSG00000109099	peripheral myelin protein 22
+ORPHANET:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	ENSEMBL:ENSG00000203859	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
+ORPHANET:529980	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	ENSEMBL:ENSG00000102908	nuclear factor of activated T cells 5
+ORPHANET:529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	ENSEMBL:ENSG00000137275	receptor interacting serine/threonine kinase 1
+ORPHANET:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	ENSEMBL:ENSG00000153922	chromodomain helicase DNA binding protein 1
+ORPHANET:529574	Duane retraction syndrome with congenital deafness	ENSEMBL:ENSG00000204103	MAF bZIP transcription factor B
+ORPHANET:90389	Telangiectasia macularis eruptiva perstans	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:90653	Stickler syndrome type 1	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:90652	Otopalatodigital syndrome type 2	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:90654	Stickler syndrome type 2	ENSEMBL:ENSG00000060718	collagen type XI alpha 1 chain
+ORPHANET:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	ENSEMBL:ENSG00000197858	glycosylphosphatidylinositol anchor attachment 1
+ORPHANET:90650	Otopalatodigital syndrome type 1	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:91496	Snowflake vitreoretinal degeneration	ENSEMBL:ENSG00000115474	potassium inwardly rectifying channel subfamily J member 13
+ORPHANET:91481	Ring dermoid of cornea	ENSEMBL:ENSG00000164093	paired like homeodomain 2
+ORPHANET:91414	Pilomatrixoma	ENSEMBL:ENSG00000168036	catenin beta 1
+ORPHANET:91490	Isolated congenital sclerocornea	ENSEMBL:ENSG00000121634	gap junction protein alpha 8
+ORPHANET:91489	Isolated congenital megalocornea	ENSEMBL:ENSG00000101938	chordin like 1
+ORPHANET:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	ENSEMBL:ENSG00000075415	solute carrier family 25 member 3
+ORPHANET:91131	DK1-CDG	ENSEMBL:ENSG00000175283	dolichol kinase
+ORPHANET:91132	Ichthyosis-hypotrichosis syndrome	ENSEMBL:ENSG00000149418	ST14 transmembrane serine protease matriptase
+ORPHANET:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	ENSEMBL:ENSG00000148795	cytochrome P450 family 17 subfamily A member 1
+ORPHANET:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	ENSEMBL:ENSG00000160882	cytochrome P450 family 11 subfamily B member 1
+ORPHANET:90797	Partial androgen insensitivity syndrome	ENSEMBL:ENSG00000169083	androgen receptor
+ORPHANET:91347	TSH-secreting pituitary adenoma	ENSEMBL:ENSG00000107736	cadherin related 23
+ORPHANET:91352	Germinoma of the central nervous system	ENSEMBL:ENSG00000171988	jumonji domain containing 1C
+ORPHANET:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	ENSEMBL:ENSG00000115486	gamma-glutamyl carboxylase
+ORPHANET:79395	Keratoderma hereditarium mutilans with ichthyosis	ENSEMBL:ENSG00000203782	loricrin cornified envelope precursor protein
+ORPHANET:79414	Woolly hair nevus	ENSEMBL:ENSG00000174775	HRas proto-oncogene, GTPase
+ORPHANET:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	ENSEMBL:ENSG00000178209	plectin
+ORPHANET:79406	Late-onset junctional epidermolysis bullosa	ENSEMBL:ENSG00000065618	collagen type XVII alpha 1 chain
+ORPHANET:79409	Recessive dystrophic epidermolysis bullosa inversa	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:79411	Self-improving dystrophic epidermolysis bullosa	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:79410	Localized dystrophic epidermolysis bullosa, pretibial form	ENSEMBL:ENSG00000114270	collagen type VII alpha 1 chain
+ORPHANET:79455	Cutaneous mastocytoma	ENSEMBL:ENSG00000157404	KIT proto-oncogene, receptor tyrosine kinase
+ORPHANET:79435	Oculocutaneous albinism type 4	ENSEMBL:ENSG00000164175	solute carrier family 45 member 2
+ORPHANET:79434	Oculocutaneous albinism type 1B	ENSEMBL:ENSG00000077498	tyrosinase
+ORPHANET:79433	Oculocutaneous albinism type 3	ENSEMBL:ENSG00000107165	tyrosinase related protein 1
+ORPHANET:79431	Oculocutaneous albinism type 1A	ENSEMBL:ENSG00000077498	tyrosinase
+ORPHANET:79445	Pseudopseudohypoparathyroidism	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:79444	Pseudohypoparathyroidism type 1C	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:79443	Pseudohypoparathyroidism type 1A	ENSEMBL:ENSG00000087460	GNAS complex locus
+ORPHANET:79484	Phakomatosis cesiomarmorata	ENSEMBL:ENSG00000088256	G protein subunit alpha 11
+ORPHANET:79474	Atypical Werner syndrome	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:79477	Griscelli syndrome type 2	ENSEMBL:ENSG00000069974	RAB27A, member RAS oncogene family
+ORPHANET:79476	Griscelli syndrome type 1	ENSEMBL:ENSG00000197535	myosin VA
+ORPHANET:79473	Porphyria variegata	ENSEMBL:ENSG00000143224	protoporphyrinogen oxidase
+ORPHANET:79269	Sanfilippo syndrome type A	ENSEMBL:ENSG00000181523	N-sulfoglucosamine sulfohydrolase
+ORPHANET:79257	GM1 gangliosidosis type 3	ENSEMBL:ENSG00000170266	galactosidase beta 1
+ORPHANET:79256	GM1 gangliosidosis type 2	ENSEMBL:ENSG00000170266	galactosidase beta 1
+ORPHANET:79255	GM1 gangliosidosis type 1	ENSEMBL:ENSG00000170266	galactosidase beta 1
+ORPHANET:79254	Classic phenylketonuria	ENSEMBL:ENSG00000171759	phenylalanine hydroxylase
+ORPHANET:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	ENSEMBL:ENSG00000137700	solute carrier family 37 member 4
+ORPHANET:79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	ENSEMBL:ENSG00000131482	glucose-6-phosphatase catalytic subunit 1
+ORPHANET:79246	Pyruvate dehydrogenase phosphatase deficiency	ENSEMBL:ENSG00000164951	pyruvate dehydrogenase phosphatase catalytic subunit 1
+ORPHANET:79253	Mild phenylketonuria	ENSEMBL:ENSG00000171759	phenylalanine hydroxylase
+ORPHANET:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	ENSEMBL:ENSG00000102893	phosphorylase kinase regulatory subunit beta
+ORPHANET:79241	Biotinidase deficiency	ENSEMBL:ENSG00000169814	biotinidase
+ORPHANET:79239	Classic galactosemia	ENSEMBL:ENSG00000213930	galactose-1-phosphate uridylyltransferase
+ORPHANET:79244	Pyruvate dehydrogenase E2 deficiency	ENSEMBL:ENSG00000150768	dihydrolipoamide S-acetyltransferase
+ORPHANET:79242	Holocarboxylase synthetase deficiency	ENSEMBL:ENSG00000159267	holocarboxylase synthetase
+ORPHANET:79299	Hyperinsulinism due to glucokinase deficiency	ENSEMBL:ENSG00000106633	glucokinase
+ORPHANET:79301	Congenital bile acid synthesis defect type 1	ENSEMBL:ENSG00000099377	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
+ORPHANET:79293	Familial LCAT deficiency	ENSEMBL:ENSG00000213398	lecithin-cholesterol acyltransferase
+ORPHANET:79292	Fish-eye disease	ENSEMBL:ENSG00000213398	lecithin-cholesterol acyltransferase
+ORPHANET:79278	Autosomal erythropoietic protoporphyria	ENSEMBL:ENSG00000066926	ferrochelatase
+ORPHANET:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	ENSEMBL:ENSG00000198951	alpha-N-acetylgalactosaminidase
+ORPHANET:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	ENSEMBL:ENSG00000198951	alpha-N-acetylgalactosaminidase
+ORPHANET:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	ENSEMBL:ENSG00000198951	alpha-N-acetylgalactosaminidase
+ORPHANET:79282	Methylmalonic acidemia with homocystinuria, type cblC	ENSEMBL:ENSG00000132763	metabolism of cobalamin associated C
+ORPHANET:79283	Methylmalonic acidemia with homocystinuria, type cblD	ENSEMBL:ENSG00000168288	metabolism of cobalamin associated D
+ORPHANET:79284	Methylmalonic acidemia with homocystinuria type cblF	ENSEMBL:ENSG00000168216	LMBR1 domain containing 1
+ORPHANET:79270	Sanfilippo syndrome type B	ENSEMBL:ENSG00000108784	N-acetyl-alpha-glucosaminidase
+ORPHANET:79271	Sanfilippo syndrome type C	ENSEMBL:ENSG00000165102	heparan-alpha-glucosaminide N-acetyltransferase
+ORPHANET:79272	Sanfilippo syndrome type D	ENSEMBL:ENSG00000135677	glucosamine (N-acetyl)-6-sulfatase
+ORPHANET:79273	Hereditary coproporphyria	ENSEMBL:ENSG00000080819	coproporphyrinogen oxidase
+ORPHANET:79276	Acute intermittent porphyria	ENSEMBL:ENSG00000256269	hydroxymethylbilane synthase
+ORPHANET:79333	COG7-CDG	ENSEMBL:ENSG00000168434	component of oligomeric golgi complex 7
+ORPHANET:79332	B4GALT1-CDG	ENSEMBL:ENSG00000086062	beta-1,4-galactosyltransferase 1
+ORPHANET:79330	MOGS-CDG	ENSEMBL:ENSG00000115275	mannosyl-oligosaccharide glucosidase
+ORPHANET:79329	MGAT2-CDG	ENSEMBL:ENSG00000168282	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
+ORPHANET:79328	ALG9-CDG	ENSEMBL:ENSG00000086848	ALG9 alpha-1,2-mannosyltransferase
+ORPHANET:79327	ALG1-CDG	ENSEMBL:ENSG00000033011	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
+ORPHANET:79326	ALG2-CDG	ENSEMBL:ENSG00000119523	ALG2 alpha-1,3/1,6-mannosyltransferase
+ORPHANET:79325	ALG8-CDG	ENSEMBL:ENSG00000159063	ALG8 alpha-1,3-glucosyltransferase
+ORPHANET:79324	ALG12-CDG	ENSEMBL:ENSG00000182858	ALG12 alpha-1,6-mannosyltransferase
+ORPHANET:79323	MPDU1-CDG	ENSEMBL:ENSG00000129255	mannose-P-dolichol utilization defect 1
+ORPHANET:79322	DPM1-CDG	ENSEMBL:ENSG00000000419	dolichyl-phosphate mannosyltransferase subunit 1, catalytic
+ORPHANET:79321	ALG3-CDG	ENSEMBL:ENSG00000214160	ALG3 alpha-1,3- mannosyltransferase
+ORPHANET:79320	ALG6-CDG	ENSEMBL:ENSG00000088035	ALG6 alpha-1,3-glucosyltransferase
+ORPHANET:79319	MPI-CDG	ENSEMBL:ENSG00000178802	mannose phosphate isomerase
+ORPHANET:79318	PMM2-CDG	ENSEMBL:ENSG00000140650	phosphomannomutase 2
+ORPHANET:79314	L-2-hydroxyglutaric aciduria	ENSEMBL:ENSG00000087299	L-2-hydroxyglutarate dehydrogenase
+ORPHANET:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	ENSEMBL:ENSG00000146085	methylmalonyl-CoA mutase
+ORPHANET:79310	Vitamin B12-responsive methylmalonic acidemia type cblA	ENSEMBL:ENSG00000151611	metabolism of cobalamin associated A
+ORPHANET:79311	Vitamin B12-responsive methylmalonic acidemia type cblB	ENSEMBL:ENSG00000139428	metabolism of cobalamin associated B
+ORPHANET:79304	Progressive familial intrahepatic cholestasis type 2	ENSEMBL:ENSG00000073734	ATP binding cassette subfamily B member 11
+ORPHANET:79305	Progressive familial intrahepatic cholestasis type 3	ENSEMBL:ENSG00000005471	ATP binding cassette subfamily B member 4
+ORPHANET:79302	Congenital bile acid synthesis defect type 3	ENSEMBL:ENSG00000172817	cytochrome P450 family 7 subfamily B member 1
+ORPHANET:79303	Congenital bile acid synthesis defect type 2	ENSEMBL:ENSG00000122787	aldo-keto reductase family 1 member D1
+ORPHANET:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	ENSEMBL:ENSG00000092621	phosphoglycerate dehydrogenase
+ORPHANET:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	ENSEMBL:ENSG00000146733	phosphoserine phosphatase
+ORPHANET:79345	Brachytelephalangic chondrodysplasia punctata	ENSEMBL:ENSG00000157399	arylsulfatase L
+ORPHANET:85195	Familial expansile osteolysis	ENSEMBL:ENSG00000141655	TNF receptor superfamily member 11a
+ORPHANET:85194	Spondylo-ocular syndrome	ENSEMBL:ENSG00000015532	xylosyltransferase 2
+ORPHANET:85198	Dysspondyloenchondromatosis	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:85201	Genitopatellar syndrome	ENSEMBL:ENSG00000156650	lysine acetyltransferase 6B
+ORPHANET:85200	Ischiovertebral syndrome	ENSEMBL:ENSG00000164619	BMP binding endothelial regulator
+ORPHANET:85202	Keutel syndrome	ENSEMBL:ENSG00000111341	matrix Gla protein
+ORPHANET:85212	Fetal Gaucher disease	ENSEMBL:ENSG00000177628	glucosylceramidase beta 1
+ORPHANET:85277	X-linked intellectual disability, Cantagrel type	ENSEMBL:ENSG00000050030	neurite extension and migration factor
+ORPHANET:85278	Christianson syndrome	ENSEMBL:ENSG00000198689	solute carrier family 9 member A6
+ORPHANET:85279	KDM5C-related syndromic X-linked intellectual disability	ENSEMBL:ENSG00000126012	lysine demethylase 5C
+ORPHANET:85282	MEHMO syndrome	ENSEMBL:ENSG00000130741	eukaryotic translation initiation factor 2 subunit gamma
+ORPHANET:85284	BRESEK syndrome	ENSEMBL:ENSG00000012174	membrane bound transcription factor peptidase, site 2
+ORPHANET:85287	X-linked intellectual disability, Siderius type	ENSEMBL:ENSG00000172943	PHD finger protein 8
+ORPHANET:85288	X-linked intellectual disability, Stocco Dos Santos type	ENSEMBL:ENSG00000158352	shroom family member 4
+ORPHANET:85293	X-linked intellectual disability, Cabezas type	ENSEMBL:ENSG00000158290	cullin 4B
+ORPHANET:85295	HSD10 disease, atypical type	ENSEMBL:ENSG00000072506	hydroxysteroid 17-beta dehydrogenase 10
+ORPHANET:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	ENSEMBL:ENSG00000008056	synapsin I
+ORPHANET:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	ENSEMBL:ENSG00000182287	adaptor related protein complex 1 subunit sigma 2
+ORPHANET:85335	Fried syndrome	ENSEMBL:ENSG00000182287	adaptor related protein complex 1 subunit sigma 2
+ORPHANET:85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	ENSEMBL:ENSG00000121454	LIM homeobox 4
+ORPHANET:85445	AA amyloidosis	ENSEMBL:ENSG00000173432	serum amyloid A1
+ORPHANET:85453	X-linked reticulate pigmentary disorder	ENSEMBL:ENSG00000101868	DNA polymerase alpha 1, catalytic subunit
+ORPHANET:86788	X-linked severe congenital neutropenia	ENSEMBL:ENSG00000015285	WASP actin nucleation promoting factor
+ORPHANET:86309	DPAGT1-CDG	ENSEMBL:ENSG00000172269	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
+ORPHANET:85448	AGel amyloidosis	ENSEMBL:ENSG00000148180	gelsolin
+ORPHANET:85447	ATTRV30M amyloidosis	ENSEMBL:ENSG00000118271	transthyretin
+ORPHANET:85451	ATTRV122I amyloidosis	ENSEMBL:ENSG00000118271	transthyretin
+ORPHANET:86812	POMT1-related limb-girdle muscular dystrophy R11	ENSEMBL:ENSG00000130714	protein O-mannosyltransferase 1
+ORPHANET:86813	Helicoid peripapillary chorioretinal degeneration	ENSEMBL:ENSG00000187079	TEA domain transcription factor 1
+ORPHANET:86815	Aplasia of lacrimal and salivary glands	ENSEMBL:ENSG00000070193	fibroblast growth factor 10
+ORPHANET:86816	Congenital analbuminemia	ENSEMBL:ENSG00000163631	albumin
+ORPHANET:512017	Chronic lymphoproliferative disorder of natural killer cells	ENSEMBL:ENSG00000168610	signal transducer and activator of transcription 3
+ORPHANET:86817	Hemolytic anemia due to adenylate kinase deficiency	ENSEMBL:ENSG00000106992	adenylate kinase 1
+ORPHANET:86819	Atrichia with papular lesions	ENSEMBL:ENSG00000168453	HR lysine demethylase and nuclear receptor corepressor
+ORPHANET:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ENSEMBL:ENSG00000164587	ribosomal protein S14
+ORPHANET:512103	Autosomal recessive epidermolytic ichthyosis	ENSEMBL:ENSG00000186395	keratin 10
+ORPHANET:86830	Chronic myeloproliferative disease, unclassifiable	ENSEMBL:ENSG00000113721	platelet derived growth factor receptor beta
+ORPHANET:86829	Chronic neutrophilic leukemia	ENSEMBL:ENSG00000119535	colony stimulating factor 3 receptor
+ORPHANET:512260	Congenital cerebellar ataxia due to RNU12 mutation	ENSEMBL:ENSG00000276027	RNA, U12 small nuclear
+ORPHANET:86845	Acute myeloid leukaemia with myelodysplasia-related features	ENSEMBL:ENSG00000168769	tet methylcytosine dioxygenase 2
+ORPHANET:86872	T-cell large granular lymphocyte leukemia	ENSEMBL:ENSG00000168610	signal transducer and activator of transcription 3
+ORPHANET:86884	Subcutaneous panniculitis-like T-cell lymphoma	ENSEMBL:ENSG00000135077	hepatitis A virus cellular receptor 2
+ORPHANET:79503	Ichthyosis hystrix of Curth-Macklin	ENSEMBL:ENSG00000167768	keratin 1
+ORPHANET:79495	X-linked congenital generalized hypertrichosis	ENSEMBL:ENSG00000134595	SRY-box transcription factor 3
+ORPHANET:79499	Autosomal dominant deafness-onychodystrophy syndrome	ENSEMBL:ENSG00000147416	ATPase H+ transporting V1 subunit B2
+ORPHANET:79665	Gardner syndrome	ENSEMBL:ENSG00000134982	APC regulator of WNT signaling pathway
+ORPHANET:79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency	ENSEMBL:ENSG00000006071	ATP binding cassette subfamily C member 8
+ORPHANET:79651	Mild hyperphenylalaninemia	ENSEMBL:ENSG00000171759	phenylalanine hydroxylase
+ORPHANET:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	ENSEMBL:ENSG00000187486	potassium inwardly rectifying channel subfamily J member 11
+ORPHANET:83463	Microtia	ENSEMBL:ENSG00000105996	homeobox A2
+ORPHANET:83461	Congenital primary aphakia	ENSEMBL:ENSG00000186790	forkhead box E3
+ORPHANET:83454	Glomuvenous malformation	ENSEMBL:ENSG00000174842	glomulin, FKBP associated protein
+ORPHANET:83620	Enteric anendocrinosis	ENSEMBL:ENSG00000122859	neurogenin 3
+ORPHANET:84090	Fibronectin glomerulopathy	ENSEMBL:ENSG00000115414	fibronectin 1
+ORPHANET:513436	Autosomal recessive spastic paraplegia type 78	ENSEMBL:ENSG00000159363	ATPase cation transporting 13A2
+ORPHANET:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	ENSEMBL:ENSG00000156709	apoptosis inducing factor mitochondria associated 1
+ORPHANET:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	ENSEMBL:ENSG00000162923	WD repeat domain 26
+ORPHANET:83642	Microcytic anemia with liver iron overload	ENSEMBL:ENSG00000110911	solute carrier family 11 member 2
+ORPHANET:85163	Hypomyelination-congenital cataract syndrome	ENSEMBL:ENSG00000122591	hyccin PI4KA lipid kinase complex subunit 1
+ORPHANET:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:85146	Neurogenic scapuloperoneal syndrome, Kaeser type	ENSEMBL:ENSG00000175084	desmin
+ORPHANET:85128	Bothnia retinal dystrophy	ENSEMBL:ENSG00000140522	retinaldehyde binding protein 1
+ORPHANET:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	ENSEMBL:ENSG00000169218	R-spondin 1
+ORPHANET:84132	Desmin-related myopathy with Mallory body-like inclusions	ENSEMBL:ENSG00000162430	selenoprotein N
+ORPHANET:85186	Endosteal sclerosis-cerebellar hypoplasia syndrome	ENSEMBL:ENSG00000013503	RNA polymerase III subunit B
+ORPHANET:85182	Diaphyseal medullary stenosis-bone malignancy syndrome	ENSEMBL:ENSG00000099810	methylthioadenosine phosphorylase
+ORPHANET:85179	Infantile osteopetrosis with neuroaxonal dysplasia	ENSEMBL:ENSG00000081087	osteoclastogenesis associated transmembrane protein 1
+ORPHANET:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	ENSEMBL:ENSG00000103051	component of oligomeric golgi complex 4
+ORPHANET:85169	Familial digital arthropathy-brachydactyly	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	ENSEMBL:ENSG00000161217	phosphate cytidylyltransferase 1A, choline
+ORPHANET:85166	Platyspondylic dysplasia, Torrance type	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	ENSEMBL:ENSG00000068078	fibroblast growth factor receptor 3
+ORPHANET:603689	KLHL7-related Bohring-Opitz-like syndrome	ENSEMBL:ENSG00000122550	kelch like family member 7
+ORPHANET:603684	KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome	ENSEMBL:ENSG00000122550	kelch like family member 7
+ORPHANET:603694	KLHL7-related cold-induced sweating-like syndrome	ENSEMBL:ENSG00000122550	kelch like family member 7
+ORPHANET:610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome	ENSEMBL:ENSG00000011021	chloride voltage-gated channel 6
+ORPHANET:610569	KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome	ENSEMBL:ENSG00000138688	bridge-like lipid transfer protein family member 1
+ORPHANET:611201	Oculogastrointestinal-neurodevelopmental syndrome	ENSEMBL:ENSG00000103326	calpain 15
+ORPHANET:600668	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	ENSEMBL:ENSG00000090061	cyclin K
+ORPHANET:600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	ENSEMBL:ENSG00000179915	neurexin 1
+ORPHANET:97249	Pontocerebellar hypoplasia type 3	ENSEMBL:ENSG00000186472	piccolo presynaptic cytomatrix protein
+ORPHANET:97297	Bohring-Opitz syndrome	ENSEMBL:ENSG00000171456	ASXL transcriptional regulator 1
+ORPHANET:97346	ADan amyloidosis	ENSEMBL:ENSG00000136156	integral membrane protein 2B
+ORPHANET:97345	ABri amyloidosis	ENSEMBL:ENSG00000136156	integral membrane protein 2B
+ORPHANET:97363	Unilateral multicystic dysplastic kidney	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:97364	Bilateral multicystic dysplastic kidney	ENSEMBL:ENSG00000275410	HNF1 homeobox B
+ORPHANET:97548	Right sided atrial isomerism	ENSEMBL:ENSG00000130283	growth differentiation factor 1
+ORPHANET:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	ENSEMBL:ENSG00000106070	growth factor receptor bound protein 10
+ORPHANET:96266	Leydig cell hypoplasia due to partial LH resistance	ENSEMBL:ENSG00000138039	luteinizing hormone/choriogonadotropin receptor
+ORPHANET:96265	Leydig cell hypoplasia due to complete LH resistance	ENSEMBL:ENSG00000138039	luteinizing hormone/choriogonadotropin receptor
+ORPHANET:97234	Glycogen storage disease due to phosphoglycerate mutase deficiency	ENSEMBL:ENSG00000164708	phosphoglycerate mutase 2
+ORPHANET:97238	Rippling muscle disease	ENSEMBL:ENSG00000182533	caveolin 3
+ORPHANET:97239	Reducing body myopathy	ENSEMBL:ENSG00000022267	four and a half LIM domains 1
+ORPHANET:97240	Zebra body myopathy	ENSEMBL:ENSG00000143632	actin alpha 1, skeletal muscle
+ORPHANET:97685	17q11 microdeletion syndrome	ENSEMBL:ENSG00000196712	neurofibromin 1
+ORPHANET:95702	X-linked adrenal hypoplasia congenita	ENSEMBL:ENSG00000169297	nuclear receptor subfamily 0 group B member 1
+ORPHANET:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	ENSEMBL:ENSG00000127948	cytochrome p450 oxidoreductase
+ORPHANET:95698	NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	ENSEMBL:ENSG00000231852	cytochrome P450 family 21 subfamily A member 2
+ORPHANET:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	ENSEMBL:ENSG00000124587	peroxisomal biogenesis factor 6
+ORPHANET:95232	Lissencephaly due to LIS1 mutation	ENSEMBL:ENSG00000007168	platelet activating factor acetylhydrolase 1b regulatory subunit 1
+ORPHANET:95159	Hepatoerythropoietic porphyria	ENSEMBL:ENSG00000126088	uroporphyrinogen decarboxylase
+ORPHANET:95428	COG8-CDG	ENSEMBL:ENSG00000213380	component of oligomeric golgi complex 8
+ORPHANET:94122	Cerebellar ataxia, Cayman type	ENSEMBL:ENSG00000167654	ATCAY kinesin light chain interacting caytaxin
+ORPHANET:94124	Spinocerebellar ataxia with axonal neuropathy type 1	ENSEMBL:ENSG00000042088	tyrosyl-DNA phosphodiesterase 1
+ORPHANET:94125	Recessive mitochondrial ataxia syndrome	ENSEMBL:ENSG00000140521	DNA polymerase gamma, catalytic subunit
+ORPHANET:94147	Spinocerebellar ataxia type 7	ENSEMBL:ENSG00000163635	ataxin 7
+ORPHANET:94150	Anonychia congenita totalis	ENSEMBL:ENSG00000101282	R-spondin 4
+ORPHANET:94065	15q24 microdeletion syndrome	ENSEMBL:ENSG00000169375	SIN3 transcription regulator family member A
+ORPHANET:94068	Spondyloepiphyseal dysplasia congenita	ENSEMBL:ENSG00000139219	collagen type II alpha 1 chain
+ORPHANET:94083	Partington syndrome	ENSEMBL:ENSG00000004848	aristaless related homeobox
+ORPHANET:96147	Kleefstra syndrome due to 9q34 microdeletion	ENSEMBL:ENSG00000181090	euchromatic histone lysine methyltransferase 1
+ORPHANET:597623	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome	ENSEMBL:ENSG00000119669	interferon regulatory factor 2 binding protein like
+ORPHANET:597733	Oculocutaneous albinism type 8	ENSEMBL:ENSG00000080166	dopachrome tautomerase
+ORPHANET:597939	Euthyroid dysprealbuminemic hyperthyroxinemia	ENSEMBL:ENSG00000118271	transthyretin
+ORPHANET:597874	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome	ENSEMBL:ENSG00000136371	methenyltetrahydrofolate synthetase
+ORPHANET:93562	AFib amyloidosis	ENSEMBL:ENSG00000171560	fibrinogen alpha chain
+ORPHANET:598603	Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome	ENSEMBL:ENSG00000182450	potassium two pore domain channel subfamily K member 4
+ORPHANET:93560	AApoAI amyloidosis	ENSEMBL:ENSG00000118137	apolipoprotein A1
+ORPHANET:93561	ALys amyloidosis	ENSEMBL:ENSG00000090382	lysozyme
+ORPHANET:93474	Scheie syndrome	ENSEMBL:ENSG00000127415	alpha-L-iduronidase
+ORPHANET:93476	Hurler-Scheie syndrome	ENSEMBL:ENSG00000127415	alpha-L-iduronidase
+ORPHANET:93473	Hurler syndrome	ENSEMBL:ENSG00000127415	alpha-L-iduronidase
+ORPHANET:93399	Juvenile sialidosis type 2	ENSEMBL:ENSG00000204386	neuraminidase 1
+ORPHANET:93400	Congenital sialidosis type 2	ENSEMBL:ENSG00000204386	neuraminidase 1
+ORPHANET:599373	STXBP1-related encephalopathy	ENSEMBL:ENSG00000136854	syntaxin binding protein 1
+ORPHANET:599376	Hypomyelination of early myelinating structures	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:93404	Syndactyly type 3	ENSEMBL:ENSG00000152661	gap junction protein alpha 1
+ORPHANET:93406	Syndactyly type 5	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:93409	Brachydactyly-syndactyly, Zhao type	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	ENSEMBL:ENSG00000079616	kinesin family member 22
+ORPHANET:93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	ENSEMBL:ENSG00000162733	discoidin domain receptor tyrosine kinase 2
+ORPHANET:93357	SPONASTRIME dysplasia	ENSEMBL:ENSG00000160949	tonsoku like, DNA repair protein
+ORPHANET:599082	CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome	ENSEMBL:ENSG00000170004	chromodomain helicase DNA binding protein 3
+ORPHANET:93372	Familial hypocalciuric hypercalcemia type 1	ENSEMBL:ENSG00000036828	calcium sensing receptor
+ORPHANET:93385	NON RARE IN EUROPE: Brachydactyly type D	ENSEMBL:ENSG00000128714	homeobox D13
+ORPHANET:93932	FG syndrome type 1	ENSEMBL:ENSG00000184634	mediator complex subunit 12
+ORPHANET:93952	X-linked intellectual disability, Hedera type	ENSEMBL:ENSG00000182220	ATPase H+ transporting accessory protein 2
+ORPHANET:595109	Atypical Timothy syndrome	ENSEMBL:ENSG00000151067	calcium voltage-gated channel subunit alpha1 C
+ORPHANET:93950	X-linked intellectual disability, Sutherland-Haan type	ENSEMBL:ENSG00000102103	polyglutamine binding protein 1
+ORPHANET:595098	Timothy syndrome type 1	ENSEMBL:ENSG00000151067	calcium voltage-gated channel subunit alpha1 C
+ORPHANET:93947	X-linked intellectual disability, Golabi-Ito-Hall type	ENSEMBL:ENSG00000102103	polyglutamine binding protein 1
+ORPHANET:595105	Timothy syndrome type 2	ENSEMBL:ENSG00000151067	calcium voltage-gated channel subunit alpha1 C
+ORPHANET:93946	Hamel cerebro-palato-cardiac syndrome	ENSEMBL:ENSG00000102103	polyglutamine binding protein 1
+ORPHANET:93945	X-linked intellectual disability, Porteous type	ENSEMBL:ENSG00000102103	polyglutamine binding protein 1
+ORPHANET:93622	Dent disease type 1	ENSEMBL:ENSG00000171365	chloride voltage-gated channel 5
+ORPHANET:93623	Dent disease type 2	ENSEMBL:ENSG00000122126	OCRL inositol polyphosphate-5-phosphatase
+ORPHANET:93598	Primary hyperoxaluria type 1	ENSEMBL:ENSG00000172482	alanine--glyoxylate aminotransferase
+ORPHANET:596008	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis	ENSEMBL:ENSG00000066468	fibroblast growth factor receptor 2
+ORPHANET:93583	Congenital thrombotic thrombocytopenic purpura	ENSEMBL:ENSG00000160323	ADAM metallopeptidase with thrombospondin type 1 motif 13
+ORPHANET:93610	Distal renal tubular acidosis with anemia	ENSEMBL:ENSG00000004939	solute carrier family 4 member 1 (Diego blood group)
+ORPHANET:93608	Autosomal dominant distal renal tubular acidosis	ENSEMBL:ENSG00000004939	solute carrier family 4 member 1 (Diego blood group)
+ORPHANET:93607	Autosomal recessive proximal renal tubular acidosis	ENSEMBL:ENSG00000080493	solute carrier family 4 member 4
+ORPHANET:93613	Cystinuria type B	ENSEMBL:ENSG00000021488	solute carrier family 7 member 9
+ORPHANET:93612	Cystinuria type A	ENSEMBL:ENSG00000138079	solute carrier family 3 member 1
+ORPHANET:93602	Xanthinuria type II	ENSEMBL:ENSG00000075643	molybdenum cofactor sulfurase
+ORPHANET:93601	Xanthinuria type I	ENSEMBL:ENSG00000158125	xanthine dehydrogenase
+ORPHANET:93600	Primary hyperoxaluria type 3	ENSEMBL:ENSG00000241935	4-hydroxy-2-oxoglutarate aldolase 1
+ORPHANET:93599	Primary hyperoxaluria type 2	ENSEMBL:ENSG00000137106	glyoxylate and hydroxypyruvate reductase
+ORPHANET:93606	Nephrogenic syndrome of inappropriate antidiuresis	ENSEMBL:ENSG00000126895	arginine vasopressin receptor 2
+ORPHANET:596753	VEXAS syndrome	ENSEMBL:ENSG00000130985	ubiquitin like modifier activating enzyme 1
+ORPHANET:93605	Bartter syndrome type 3	ENSEMBL:ENSG00000184908	chloride voltage-gated channel Kb
+ORPHANET:99106	Atrial septal defect, ostium primum type	ENSEMBL:ENSG00000038295	tolloid like 1
+ORPHANET:99105	Atrial septal defect, sinus venosus type	ENSEMBL:ENSG00000164442	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
+ORPHANET:99141	Lymphedema-posterior choanal atresia syndrome	ENSEMBL:ENSG00000152104	protein tyrosine phosphatase non-receptor type 14
+ORPHANET:99657	Primary dystonia, DYT2 type	ENSEMBL:ENSG00000121905	hippocalcin
+ORPHANET:99429	Complete androgen insensitivity syndrome	ENSEMBL:ENSG00000169083	androgen receptor
+ORPHANET:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	ENSEMBL:ENSG00000138413	isocitrate dehydrogenase (NADP(+)) 1
+ORPHANET:592574	Menke-Hennekam syndrome	ENSEMBL:ENSG00000005339	CREB binding protein
+ORPHANET:592564	GNAO1-related developmental delay-seizures-movement disorder spectrum	ENSEMBL:ENSG00000087258	G protein subunit alpha o1
+ORPHANET:592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	ENSEMBL:ENSG00000131653	TNF receptor associated factor 7
+ORPHANET:589821	Congenital-onset Steinert myotonic dystrophy	ENSEMBL:ENSG00000104936	DM1 protein kinase
+ORPHANET:589827	Juvenile-onset Steinert myotonic dystrophy	ENSEMBL:ENSG00000104936	DM1 protein kinase
+ORPHANET:589824	Childhood-onset Steinert myotonic dystrophy	ENSEMBL:ENSG00000104936	DM1 protein kinase
+ORPHANET:589833	Late-onset Steinert myotonic dystrophy	ENSEMBL:ENSG00000104936	DM1 protein kinase
+ORPHANET:589830	Adult-onset Steinert myotonic dystrophy	ENSEMBL:ENSG00000104936	DM1 protein kinase
+ORPHANET:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	ENSEMBL:ENSG00000146247	pleckstrin homology domain interacting protein
+ORPHANET:589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	ENSEMBL:ENSG00000167548	lysine methyltransferase 2D
+ORPHANET:99749	Kostmann syndrome	ENSEMBL:ENSG00000143575	HCLS1 associated protein X-1
+ORPHANET:99734	Myotonia fluctuans	ENSEMBL:ENSG00000007314	sodium voltage-gated channel alpha subunit 4
+ORPHANET:99731	Isolated sulfite oxidase deficiency	ENSEMBL:ENSG00000139531	sulfite oxidase
+ORPHANET:99735	Myotonia permanens	ENSEMBL:ENSG00000007314	sodium voltage-gated channel alpha subunit 4
+ORPHANET:99736	Acetazolamide-responsive myotonia	ENSEMBL:ENSG00000007314	sodium voltage-gated channel alpha subunit 4
+ORPHANET:99741	King-Denborough syndrome	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:99742	Amish lethal microcephaly	ENSEMBL:ENSG00000125454	solute carrier family 25 member 19
+ORPHANET:98818	Landau-Kleffner syndrome	ENSEMBL:ENSG00000183454	glutamate ionotropic receptor NMDA type subunit 2A
+ORPHANET:98835	Acute undifferentiated leukemia	ENSEMBL:ENSG00000118058	lysine methyltransferase 2A
+ORPHANET:98831	Acute myeloid leukemia with 11q23 abnormalities	ENSEMBL:ENSG00000118058	lysine methyltransferase 2A
+ORPHANET:98832	Acute myeloid leukemia with minimal differentiation	ENSEMBL:ENSG00000122025	fms related receptor tyrosine kinase 3
+ORPHANET:98827	Unclassified myelodysplastic syndrome	ENSEMBL:ENSG00000179348	GATA binding protein 2
+ORPHANET:98826	Refractory anemia	ENSEMBL:ENSG00000168769	tet methylcytosine dioxygenase 2
+ORPHANET:98824	Atypical chronic myeloid leukemia	ENSEMBL:ENSG00000119535	colony stimulating factor 3 receptor
+ORPHANET:98843	Classic Hodgkin lymphoma, nodular sclerosis type	ENSEMBL:ENSG00000185909	kelch domain containing 8B
+ORPHANET:589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	ENSEMBL:ENSG00000067560	ras homolog family member A
+ORPHANET:98868	Southeast Asian ovalocytosis	ENSEMBL:ENSG00000004939	solute carrier family 4 member 1 (Diego blood group)
+ORPHANET:589618	Dystonia 28	ENSEMBL:ENSG00000272333	lysine methyltransferase 2B
+ORPHANET:589527	Spinocerebellar ataxia type 45	ENSEMBL:ENSG00000086570	FAT atypical cadherin 2
+ORPHANET:589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	ENSEMBL:ENSG00000273079	glutamate ionotropic receptor NMDA type subunit 2B
+ORPHANET:589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome	ENSEMBL:ENSG00000241878	phosphatidylserine decarboxylase
+ORPHANET:589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome	ENSEMBL:ENSG00000149782	phospholipase C beta 3
+ORPHANET:589522	Spinocerebellar ataxia type 46	ENSEMBL:ENSG00000105223	phospholipase D family member 3
+ORPHANET:589515	PUM1-associated developmental disability-ataxia-seizure syndrome	ENSEMBL:ENSG00000134644	pumilio RNA binding family member 1
+ORPHANET:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:98856	Charcot-Marie-Tooth disease type 2B1	ENSEMBL:ENSG00000160789	lamin A/C
+ORPHANET:98885	Bleeding diathesis due to glycoprotein VI deficiency	ENSEMBL:ENSG00000088053	glycoprotein VI platelet
+ORPHANET:98873	Congenital dyserythropoietic anemia type II	ENSEMBL:ENSG00000101310	SEC23 homolog B, COPII coat complex component
+ORPHANET:98895	Becker muscular dystrophy	ENSEMBL:ENSG00000198947	dystrophin
+ORPHANET:98902	Amish nemaline myopathy	ENSEMBL:ENSG00000105048	troponin T1, slow skeletal type
+ORPHANET:98912	Late-onset distal myopathy, Markesbery-Griggs type	ENSEMBL:ENSG00000122367	LIM domain binding 3
+ORPHANET:98911	Distal myotilinopathy	ENSEMBL:ENSG00000120729	myotilin
+ORPHANET:98916	Acute inflammatory demyelinating polyradiculoneuropathy	ENSEMBL:ENSG00000109099	peripheral myelin protein 22
+ORPHANET:98904	Congenital myopathy with excess of thin filaments	ENSEMBL:ENSG00000143632	actin alpha 1, skeletal muscle
+ORPHANET:98905	Congenital multicore myopathy with external ophthalmoplegia	ENSEMBL:ENSG00000196218	ryanodine receptor 1
+ORPHANET:98908	Neutral lipid storage myopathy	ENSEMBL:ENSG00000177666	patatin like phospholipase domain containing 2
+ORPHANET:98907	Neutral lipid storage disease with ichthyosis	ENSEMBL:ENSG00000011198	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
+ORPHANET:98909	Desminopathy	ENSEMBL:ENSG00000175084	desmin
+ORPHANET:98933	Multiple system atrophy, parkinsonian type	ENSEMBL:ENSG00000173085	coenzyme Q2, polyprenyltransferase
+ORPHANET:98934	Huntington disease-like 2	ENSEMBL:ENSG00000154118	junctophilin 3
+ORPHANET:98920	Spinal muscular atrophy with respiratory distress type 1	ENSEMBL:ENSG00000132740	immunoglobulin mu DNA binding protein 2
+ORPHANET:98949	Complete cryptophthalmia	ENSEMBL:ENSG00000150893	FRAS1 related extracellular matrix 2
+ORPHANET:98957	Gelatinous drop-like corneal dystrophy	ENSEMBL:ENSG00000184292	tumor associated calcium signal transducer 2
+ORPHANET:98956	Epithelial basement membrane dystrophy	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98964	Lattice corneal dystrophy type I	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98963	Granular corneal dystrophy type II	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98962	Granular corneal dystrophy type I	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98961	Reis-Bücklers corneal dystrophy	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98960	Thiel-Behnke corneal dystrophy	ENSEMBL:ENSG00000120708	transforming growth factor beta induced
+ORPHANET:98967	Schnyder corneal dystrophy	ENSEMBL:ENSG00000120942	UbiA prenyltransferase domain containing 1
+ORPHANET:98969	Macular corneal dystrophy	ENSEMBL:ENSG00000183196	carbohydrate sulfotransferase 6
+ORPHANET:98970	Fleck corneal dystrophy	ENSEMBL:ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing
+ORPHANET:98975	Congenital hereditary endothelial dystrophy type I	ENSEMBL:ENSG00000125850	ovo like zinc finger 2
+ORPHANET:98990	Coralliform cataract	ENSEMBL:ENSG00000118231	crystallin gamma D
+ORPHANET:99002	Reticular dystrophy of the retinal pigment epithelium	ENSEMBL:ENSG00000136144	RCC1 and BTB domain containing protein 1
+ORPHANET:99003	Multifocal pattern dystrophy simulating fundus flavimaculatus	ENSEMBL:ENSG00000112619	peripherin 2
+ORPHANET:99013	Spastic paraplegia type 7	ENSEMBL:ENSG00000197912	SPG7 matrix AAA peptidase subunit, paraplegin
+ORPHANET:99014	X-linked Charcot-Marie-Tooth disease type 5	ENSEMBL:ENSG00000147224	phosphoribosyl pyrophosphate synthetase 1
+ORPHANET:99015	Spastic paraplegia type 2	ENSEMBL:ENSG00000123560	proteolipid protein 1
+ORPHANET:585918	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	ENSEMBL:ENSG00000118058	lysine methyltransferase 2A
+ORPHANET:585929	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	ENSEMBL:ENSG00000139083	ETS variant transcription factor 6
+ORPHANET:99027	Adult-onset autosomal dominant leukodystrophy	ENSEMBL:ENSG00000113368	lamin B1
+ORPHANET:99042	Congenitally uncorrected transposition of the great arteries with coarctation	ENSEMBL:ENSG00000136698	cripto, FRL-1, cryptic family 1
+ORPHANET:583602	Neu-laxova syndrome due to phosphoserine aminotransferase deficiency	ENSEMBL:ENSG00000135069	phosphoserine aminotransferase 1
+ORPHANET:583607	Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	ENSEMBL:ENSG00000092621	phosphoglycerate dehydrogenase
+ORPHANET:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	ENSEMBL:ENSG00000114062	ubiquitin protein ligase E3A
+ORPHANET:98806	Primary dystonia, DYT6 type	ENSEMBL:ENSG00000131931	THAP domain containing 1
+ORPHANET:98805	Primary dystonia, DYT4 type	ENSEMBL:ENSG00000104833	tubulin beta 4A class IVa
+ORPHANET:98764	Spinocerebellar ataxia type 27	ENSEMBL:ENSG00000102466	fibroblast growth factor 14
+ORPHANET:98763	Spinocerebellar ataxia type 14	ENSEMBL:ENSG00000126583	protein kinase C gamma
+ORPHANET:98766	Spinocerebellar ataxia type 5	ENSEMBL:ENSG00000173898	spectrin beta, non-erythrocytic 2
+ORPHANET:98765	Spinocerebellar ataxia type 4	ENSEMBL:ENSG00000196155	pleckstrin homology and RhoGEF domain containing G4
+ORPHANET:98759	Spinocerebellar ataxia type 17	ENSEMBL:ENSG00000112592	TATA-box binding protein
+ORPHANET:98762	Spinocerebellar ataxia type 12	ENSEMBL:ENSG00000156475	protein phosphatase 2 regulatory subunit Bbeta
+ORPHANET:98761	Spinocerebellar ataxia type 10	ENSEMBL:ENSG00000130638	ataxin 10
+ORPHANET:98772	Spinocerebellar ataxia type 19/22	ENSEMBL:ENSG00000171385	potassium voltage-gated channel subfamily D member 3
+ORPHANET:98771	Spinocerebellar ataxia type 18	ENSEMBL:ENSG00000006652	interferon related developmental regulator 1
+ORPHANET:98773	Spinocerebellar ataxia type 21	ENSEMBL:ENSG00000205090	transmembrane protein 240
+ORPHANET:98768	Spinocerebellar ataxia type 13	ENSEMBL:ENSG00000131398	potassium voltage-gated channel subfamily C member 3
+ORPHANET:98767	Spinocerebellar ataxia type 11	ENSEMBL:ENSG00000128881	tau tubulin kinase 2
+ORPHANET:98769	Spinocerebellar ataxia type 15/16	ENSEMBL:ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1
+ORPHANET:580940	QRICH1-related intellectual disability-chondrodysplasia syndrome	ENSEMBL:ENSG00000198218	glutamine rich 1
+ORPHANET:580933	Lethal brain and heart developmental defects	ENSEMBL:ENSG00000077463	sirtuin 6
+ORPHANET:98755	Spinocerebellar ataxia type 1	ENSEMBL:ENSG00000124788	ataxin 1
+ORPHANET:98756	Spinocerebellar ataxia type 2	ENSEMBL:ENSG00000204842	ataxin 2
+ORPHANET:98758	Spinocerebellar ataxia type 6	ENSEMBL:ENSG00000141837	calcium voltage-gated channel subunit alpha1 A
+ORPHANET:581271	Cramp-fasciculation syndrome	ENSEMBL:ENSG00000104321	transient receptor potential cation channel subfamily A member 1
+ORPHANET:576232	Partial atrioventricular septal defect with ventricular hypoplasia	ENSEMBL:ENSG00000136574	GATA binding protein 4
+ORPHANET:576235	Partial atrioventricular septal defect without ventricular hypoplasia	ENSEMBL:ENSG00000163703	cysteine rich with EGF like domains 1
+ORPHANET:576227	Complete atrioventricular septal defect without ventricular hypoplasia	ENSEMBL:ENSG00000081189	myocyte enhancer factor 2C
+ORPHANET:575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	ENSEMBL:ENSG00000064601	cathepsin A
+ORPHANET:576349	NLRC4-related familial cold autoinflammatory syndrome	ENSEMBL:ENSG00000091106	NLR family CARD domain containing 4
+ORPHANET:576283	SATB2-associated syndrome due to a pathogenic variant	ENSEMBL:ENSG00000119042	SATB homeobox 2
+ORPHANET:574957	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	ENSEMBL:ENSG00000162434	Janus kinase 1
+ORPHANET:574918	Predisposition to severe viral infection due to IRF7 deficiency	ENSEMBL:ENSG00000185507	interferon regulatory factor 7
+ORPHANET:572385	Brachydactyly type B1	ENSEMBL:ENSG00000169071	receptor tyrosine kinase like orphan receptor 2
+ORPHANET:572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	ENSEMBL:ENSG00000183770	forkhead box L2
+ORPHANET:572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	ENSEMBL:ENSG00000089127	2'-5'-oligoadenylate synthetase 1
+ORPHANET:572543	RFVT2-related riboflavin transporter deficiency	ENSEMBL:ENSG00000185803	solute carrier family 52 member 2
+ORPHANET:572550	RFVT3-related riboflavin transporter deficiency	ENSEMBL:ENSG00000101276	solute carrier family 52 member 3
+ORPHANET:572773	Microcephaly-short stature-limb abnormalities syndrome	ENSEMBL:ENSG00000159147	DNA replication fork stabilization factor DONSON
+ORPHANET:572798	WARS2-related combined oxidative phosphorylation defect	ENSEMBL:ENSG00000116874	tryptophanyl tRNA synthetase 2, mitochondrial
+ORPHANET:572768	Microcephaly-micromelia syndrome	ENSEMBL:ENSG00000159147	DNA replication fork stabilization factor DONSON
+ORPHANET:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	ENSEMBL:ENSG00000183770	forkhead box L2
+ORPHANET:572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	ENSEMBL:ENSG00000183770	forkhead box L2
+ORPHANET:570491	QRSL1-related combined oxidative phosphorylation defect	ENSEMBL:ENSG00000130348	glutaminyl-tRNA amidotransferase subunit QRSL1
+ORPHANET:570422	Galactose mutarotase deficiency	ENSEMBL:ENSG00000143891	galactose mutarotase
+ORPHANET:570371	Bartter syndrome type 5	ENSEMBL:ENSG00000102316	MAGE family member D2
+ORPHANET:104077	Myopathic intestinal pseudoobstruction	ENSEMBL:ENSG00000163017	actin gamma 2, smooth muscle
+ORPHANET:103909	Trehalase deficiency	ENSEMBL:ENSG00000118094	trehalase
+ORPHANET:101112	Spinocerebellar ataxia type 26	ENSEMBL:ENSG00000167658	eukaryotic translation elongation factor 2
+ORPHANET:101109	Spinocerebellar ataxia type 28	ENSEMBL:ENSG00000141385	AFG3 like matrix AAA peptidase subunit 2
+ORPHANET:101108	Spinocerebellar ataxia type 23	ENSEMBL:ENSG00000101327	prodynorphin
+ORPHANET:101085	Charcot-Marie-Tooth disease type 1F	ENSEMBL:ENSG00000277586	neurofilament light chain
+ORPHANET:101088	X-linked hyper-IgM syndrome	ENSEMBL:ENSG00000102245	CD40 ligand
+ORPHANET:101081	Charcot-Marie-Tooth disease type 1A	ENSEMBL:ENSG00000109099	peripheral myelin protein 22
+ORPHANET:101082	Charcot-Marie-Tooth disease type 1B	ENSEMBL:ENSG00000158887	myelin protein zero
+ORPHANET:101083	Charcot-Marie-Tooth disease type 1C	ENSEMBL:ENSG00000189067	lipopolysaccharide induced TNF factor
+ORPHANET:101084	Charcot-Marie-Tooth disease type 1D	ENSEMBL:ENSG00000122877	early growth response 2
+ORPHANET:101078	X-linked Charcot-Marie-Tooth disease type 4	ENSEMBL:ENSG00000156709	apoptosis inducing factor mitochondria associated 1
+ORPHANET:101075	X-linked Charcot-Marie-Tooth disease type 1	ENSEMBL:ENSG00000169562	gap junction protein beta 1
+ORPHANET:101102	Charcot-Marie-Tooth disease type 2H	ENSEMBL:ENSG00000104381	ganglioside induced differentiation associated protein 1
+ORPHANET:101101	Charcot-Marie-Tooth disease type 2B2	ENSEMBL:ENSG00000039650	polynucleotide kinase 3'-phosphatase
+ORPHANET:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	ENSEMBL:ENSG00000104381	ganglioside induced differentiation associated protein 1
+ORPHANET:101090	Hyper-IgM syndrome type 3	ENSEMBL:ENSG00000101017	CD40 molecule
+ORPHANET:101089	Hyper-IgM syndrome type 2	ENSEMBL:ENSG00000111732	activation induced cytidine deaminase
+ORPHANET:101092	Hyper-IgM syndrome type 5	ENSEMBL:ENSG00000076248	uracil DNA glycosylase
+ORPHANET:101049	Familial hypocalciuric hypercalcemia type 2	ENSEMBL:ENSG00000088256	G protein subunit alpha 11
+ORPHANET:101050	Familial hypocalciuric hypercalcemia type 3	ENSEMBL:ENSG00000042753	adaptor related protein complex 2 subunit sigma 1
+ORPHANET:101068	Congenital stromal corneal dystrophy	ENSEMBL:ENSG00000011465	decorin
+ORPHANET:101010	Autosomal spastic paraplegia type 30	ENSEMBL:ENSG00000130294	kinesin family member 1A
+ORPHANET:101011	Autosomal dominant spastic paraplegia type 31	ENSEMBL:ENSG00000068615	receptor accessory protein 1
+ORPHANET:101039	Female restricted epilepsy with intellectual disability	ENSEMBL:ENSG00000165194	protocadherin 19
+ORPHANET:101028	Transaldolase deficiency	ENSEMBL:ENSG00000177156	transaldolase 1
+ORPHANET:100984	Autosomal dominant spastic paraplegia type 3	ENSEMBL:ENSG00000198513	atlastin GTPase 1
+ORPHANET:100991	Autosomal dominant spastic paraplegia type 10	ENSEMBL:ENSG00000155980	kinesin family member 5A
+ORPHANET:100989	Autosomal dominant spastic paraplegia type 8	ENSEMBL:ENSG00000164961	WASH complex subunit 5
+ORPHANET:100988	Autosomal dominant spastic paraplegia type 6	ENSEMBL:ENSG00000170113	NIPA magnesium transporter 1
+ORPHANET:100986	Autosomal recessive spastic paraplegia type 5A	ENSEMBL:ENSG00000172817	cytochrome P450 family 7 subfamily B member 1
+ORPHANET:100985	Autosomal dominant spastic paraplegia type 4	ENSEMBL:ENSG00000021574	spastin
+ORPHANET:101000	Autosomal recessive spastic paraplegia type 20	ENSEMBL:ENSG00000133104	spartin
+ORPHANET:100998	Autosomal dominant spastic paraplegia type 17	ENSEMBL:ENSG00000168000	BSCL2 lipid droplet biogenesis associated, seipin
+ORPHANET:100996	Autosomal recessive spastic paraplegia type 15	ENSEMBL:ENSG00000072121	zinc finger FYVE-type containing 26
+ORPHANET:100994	Autosomal dominant spastic paraplegia type 13	ENSEMBL:ENSG00000144381	heat shock protein family D (Hsp60) member 1
+ORPHANET:101008	Autosomal recessive spastic paraplegia type 28	ENSEMBL:ENSG00000100523	DDHD domain containing 1
+ORPHANET:101006	Autosomal recessive spastic paraplegia type 26	ENSEMBL:ENSG00000135454	beta-1,4-N-acetyl-galactosaminyltransferase 1
+ORPHANET:101001	Autosomal recessive spastic paraplegia type 21	ENSEMBL:ENSG00000090487	SPG21 abhydrolase domain containing, maspardin
+ORPHANET:100093	Carcinoid syndrome	ENSEMBL:ENSG00000204370	succinate dehydrogenase complex subunit D
+ORPHANET:100924	Porphyria due to ALA dehydratase deficiency	ENSEMBL:ENSG00000148218	aminolevulinate dehydratase
+ORPHANET:100974	FRAXF syndrome	ENSEMBL:ENSG00000269556	transmembrane protein 185A
+ORPHANET:100976	Bathing suit ichthyosis	ENSEMBL:ENSG00000092295	transglutaminase 1
+ORPHANET:100054	F12-related hereditary angioedema with normal C1Inh	ENSEMBL:ENSG00000131187	coagulation factor XII
+ORPHANET:100051	Hereditary angioedema type 2	ENSEMBL:ENSG00000149131	serpin family G member 1
+ORPHANET:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema	ENSEMBL:ENSG00000122121	X-prolyl aminopeptidase 2
+ORPHANET:100020	Refractory anemia with excess blasts type 2	ENSEMBL:ENSG00000168769	tet methylcytosine dioxygenase 2
+ORPHANET:100019	Refractory anemia with excess blasts type 1	ENSEMBL:ENSG00000168769	tet methylcytosine dioxygenase 2
+ORPHANET:100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	ENSEMBL:ENSG00000064195	distal-less homeobox 3
+ORPHANET:100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	ENSEMBL:ENSG00000079805	dynamin 2
+ORPHANET:100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	ENSEMBL:ENSG00000134684	tyrosyl-tRNA synthetase 1
+ORPHANET:100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	ENSEMBL:ENSG00000158887	myelin protein zero
+ORPHANET:100050	Hereditary angioedema type 1	ENSEMBL:ENSG00000149131	serpin family G member 1
+ORPHANET:100008	ACys amyloidosis	ENSEMBL:ENSG00000101439	cystatin C
+ORPHANET:100006	ABeta amyloidosis, Dutch type	ENSEMBL:ENSG00000142192	amyloid beta precursor protein
+ORPHANET:99989	Intermediate DEND syndrome	ENSEMBL:ENSG00000187486	potassium inwardly rectifying channel subfamily J member 11
+ORPHANET:99966	Atypical teratoid rhabdoid tumor	ENSEMBL:ENSG00000099956	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
+ORPHANET:99961	Benign recurrent intrahepatic cholestasis type 2	ENSEMBL:ENSG00000073734	ATP binding cassette subfamily B member 11
+ORPHANET:99960	Benign recurrent intrahepatic cholestasis type 1	ENSEMBL:ENSG00000081923	ATPase phospholipid transporting 8B1
+ORPHANET:99955	Charcot-Marie-Tooth disease type 4B1	ENSEMBL:ENSG00000087053	myotubularin related protein 2
+ORPHANET:99956	Charcot-Marie-Tooth disease type 4B2	ENSEMBL:ENSG00000133812	SET binding factor 2
+ORPHANET:99948	Charcot-Marie-Tooth disease type 4A	ENSEMBL:ENSG00000104381	ganglioside induced differentiation associated protein 1
+ORPHANET:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	ENSEMBL:ENSG00000116688	mitofusin 2
+ORPHANET:99950	Charcot-Marie-Tooth disease type 4D	ENSEMBL:ENSG00000104419	N-myc downstream regulated 1
+ORPHANET:99949	Charcot-Marie-Tooth disease type 4C	ENSEMBL:ENSG00000169247	SH3 domain and tetratricopeptide repeats 2
+ORPHANET:99952	Charcot-Marie-Tooth disease type 4F	ENSEMBL:ENSG00000105227	periaxin
+ORPHANET:99951	Charcot-Marie-Tooth disease type 4E	ENSEMBL:ENSG00000122877	early growth response 2
+ORPHANET:99954	Charcot-Marie-Tooth disease type 4H	ENSEMBL:ENSG00000139132	FYVE, RhoGEF and PH domain containing 4
+ORPHANET:99953	Charcot-Marie-Tooth disease type 4G	ENSEMBL:ENSG00000156515	hexokinase 1
+ORPHANET:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	ENSEMBL:ENSG00000106211	heat shock protein family B (small) member 1
+ORPHANET:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	ENSEMBL:ENSG00000277586	neurofilament light chain
+ORPHANET:99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I	ENSEMBL:ENSG00000158887	myelin protein zero
+ORPHANET:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	ENSEMBL:ENSG00000104381	ganglioside induced differentiation associated protein 1
+ORPHANET:99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J	ENSEMBL:ENSG00000158887	myelin protein zero
+ORPHANET:99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	ENSEMBL:ENSG00000054523	kinesin family member 1B
+ORPHANET:99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L	ENSEMBL:ENSG00000152137	heat shock protein family B (small) member 8
+ORPHANET:99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B	ENSEMBL:ENSG00000075785	RAB7A, member RAS oncogene family
+ORPHANET:99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C	ENSEMBL:ENSG00000111199	transient receptor potential cation channel subfamily V member 4
+ORPHANET:99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D	ENSEMBL:ENSG00000106105	glycyl-tRNA synthetase 1
+ORPHANET:99916	Malignant Sertoli-Leydig cell tumor of the ovary	ENSEMBL:ENSG00000100697	dicer 1, ribonuclease III
+ORPHANET:99914	Gynandroblastoma	ENSEMBL:ENSG00000100697	dicer 1, ribonuclease III
+ORPHANET:99901	Acyl-CoA dehydrogenase 9 deficiency	ENSEMBL:ENSG00000177646	acyl-CoA dehydrogenase family member 9
+ORPHANET:99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	ENSEMBL:ENSG00000027697	interferon gamma receptor 1
+ORPHANET:99880	Hyperparathyroidism-jaw tumor syndrome	ENSEMBL:ENSG00000134371	cell division cycle 73
+ORPHANET:99887	Acute megakaryoblastic leukemia in Down syndrome	ENSEMBL:ENSG00000102145	GATA binding protein 1
+ORPHANET:99849	Glycogen storage disease due to muscle beta-enolase deficiency	ENSEMBL:ENSG00000108515	enolase 3
+ORPHANET:99843	Leukocyte adhesion deficiency type II	ENSEMBL:ENSG00000181830	solute carrier family 35 member C1
+ORPHANET:99844	Leukocyte adhesion deficiency type III	ENSEMBL:ENSG00000149781	FERM domain containing kindlin 3
+ORPHANET:99852	Ravine syndrome	ENSEMBL:ENSG00000279903	SLC7A2 intronic transcript 1
+ORPHANET:99832	Resistance to thyrotropin-releasing hormone syndrome	ENSEMBL:ENSG00000174417	thyrotropin releasing hormone receptor
+ORPHANET:99842	Leukocyte adhesion deficiency type I	ENSEMBL:ENSG00000160255	integrin subunit beta 2
+ORPHANET:99811	Neuronal intestinal pseudoobstruction	ENSEMBL:ENSG00000196924	filamin A
+ORPHANET:99818	Turcot syndrome with polyposis	ENSEMBL:ENSG00000134982	APC regulator of WNT signaling pathway
+ORPHANET:99819	Familial gestational hyperthyroidism	ENSEMBL:ENSG00000165409	thyroid stimulating hormone receptor
+ORPHANET:99807	PEHO-like syndrome	ENSEMBL:ENSG00000115355	coiled-coil domain containing 88A
+ORPHANET:99791	Dentin dysplasia type II	ENSEMBL:ENSG00000152591	dentin sialophosphoprotein
+ORPHANET:631073	Autosomal recessive spastic paraplegia type 82	ENSEMBL:ENSG00000185813	phosphate cytidylyltransferase 2, ethanolamine
+ORPHANET:631076	Autosomal recessive spastic paraplegia type 83	ENSEMBL:ENSG00000186603	4-hydroxyphenylpyruvate dioxygenase like
+ORPHANET:631079	Autosomal recessive spastic paraplegia type 84	ENSEMBL:ENSG00000241973	phosphatidylinositol 4-kinase alpha
+ORPHANET:631082	Autosomal recessive spastic paraplegia type 85	ENSEMBL:ENSG00000120925	ring finger protein 170
+ORPHANET:631068	Autosomal dominant spastic paraplegia type 80	ENSEMBL:ENSG00000165006	ubiquitin associated protein 1
+ORPHANET:631106	Spinocerebellar ataxia type 49	ENSEMBL:ENSG00000177409	sterile alpha motif domain containing 9 like
+ORPHANET:631103	Spinocerebellar ataxia type 48	ENSEMBL:ENSG00000103266	STIP1 homology and U-box containing protein 1
+ORPHANET:631095	Spinocerebellar ataxia type 44	ENSEMBL:ENSG00000152822	glutamate metabotropic receptor 1
+ORPHANET:631088	Autosomal recessive spastic paraplegia type 87	ENSEMBL:ENSG00000165548	transmembrane protein 63C
+ORPHANET:631085	Autosomal recessive spastic paraplegia type 86	ENSEMBL:ENSG00000204427	abhydrolase domain containing 16A, phospholipase
+ORPHANET:631248	Mitchell Syndrome	ENSEMBL:ENSG00000161533	acyl-CoA oxidase 1
+ORPHANET:633021	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	ENSEMBL:ENSG00000064651	solute carrier family 12 member 2
+ORPHANET:633024	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	ENSEMBL:ENSG00000064651	solute carrier family 12 member 2
+ORPHANET:633004	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome	ENSEMBL:ENSG00000120733	lysine demethylase 3B
+ORPHANET:621758	Fibrosis-neurodegeneration-cerebral angiomatosis syndrome	ENSEMBL:ENSG00000196865	NHL repeat containing 2
+ORPHANET:620368	EGF-related primary hypomagnesemia with intellectual disability	ENSEMBL:ENSG00000138798	epidermal growth factor
+ORPHANET:620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	ENSEMBL:ENSG00000148842	cyclin and CBS domain divalent metal cation transport mediator 2
+ORPHANET:620220	Bartter syndrome type 2	ENSEMBL:ENSG00000151704	potassium inwardly rectifying channel subfamily J member 1
+ORPHANET:620158	Non-syndromic non-specific multisutural craniosynostosis	ENSEMBL:ENSG00000010361	fuzzy planar cell polarity protein
+ORPHANET:623695	MIR140-related spondyloepiphyseal dysplasia	ENSEMBL:ENSG00000208017	microRNA 140
+ORPHANET:622925	X-linked severe syndromic thoracic aortic aneurysm and dissection	ENSEMBL:ENSG00000182492	biglycan
+ORPHANET:622934	SBDS-related severe neonatal spondylometaphyseal dysplasia	ENSEMBL:ENSG00000126524	SBDS ribosome maturation factor
+ORPHANET:617919	F12-associated cold autoinflammatory syndrome	ENSEMBL:ENSG00000131187	coagulation factor XII
+ORPHANET:619941	Immune deficiency due to impaired neutrophil phagocytosis and migration	ENSEMBL:ENSG00000196588	myocardin related transcription factor A
+ORPHANET:619367	SAMD9L-associated autoinflammatory syndrome	ENSEMBL:ENSG00000177409	sterile alpha motif domain containing 9 like
+ORPHANET:619953	Familial hyperinflammatory lymphoproliferative immunodeficiency	ENSEMBL:ENSG00000123338	NCK associated protein 1 like
+ORPHANET:619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	ENSEMBL:ENSG00000185338	suppressor of cytokine signaling 1
+ORPHANET:619979	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	ENSEMBL:ENSG00000116044	NFE2 like bZIP transcription factor 2
+ORPHANET:619972	CADINS disease	ENSEMBL:ENSG00000198286	caspase recruitment domain family member 11
+ORPHANET:619363	Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	ENSEMBL:ENSG00000070831	cell division cycle 42
+ORPHANET:619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome	ENSEMBL:ENSG00000119866	BAF chromatin remodeling complex subunit BCL11A
diff --git a/config/OrphaNet/data_processing/generate_orpha_gene_disease_benchmarks.py b/config/OrphaNet/data_processing/generate_orpha_gene_disease_benchmarks.py
new file mode 100644
index 0000000..e51189a
--- /dev/null
+++ b/config/OrphaNet/data_processing/generate_orpha_gene_disease_benchmarks.py
@@ -0,0 +1,36 @@
+import csv
+import requests
+import xmltodict
+
+# use this if loading data from raw xml file (up-to-date as of 2/15/2023)
+# with open('../en_product6.xml') as xml_file:
+#    data_dict = xmltodict.parse(xml_file.read())
+
+# us this if extracting from link from http://www.orphadata.org/cgi-bin/index.php
+# Note, that file name is likely to change for newer versions and will require updating
+r = requests.get('http://www.orphadata.org/data/xml/en_product6.xml')
+data_dict = xmltodict.parse(r.content)
+
+x = [['Disease_Curie', 'Disease_Name', 'Gene_Curie', 'Gene_Name']]
+for data in data_dict['JDBOR']['DisorderList']['Disorder']:
+    orpha_code = 'ORPHANET:{}'.format(data['OrphaCode'])
+    orpha_name = data['Name']['#text']
+    associations = data['DisorderGeneAssociationList']['DisorderGeneAssociation']
+    if type(associations) is not list:
+        associations = [associations]
+        for association in associations:
+            gene_name = association['Gene']['Name']['#text']
+            references = association['Gene']['ExternalReferenceList']['ExternalReference']
+            found = False
+            if type(references) is not list:
+                references = [references]
+            for reference in references:
+                if reference['Source'] == 'Ensembl':
+                    gene_curie = 'ENSEMBL:{}'.format(reference['Reference'])
+                    x.append([orpha_code, orpha_name, gene_curie, gene_name])
+                    found = True
+                    break
+with open('../data.tsv', 'w', newline='') as f:
+    writer = csv.writer(f, delimiter='\t')
+    writer.writerows(x)
+
diff --git a/config/OrphaNet/en_product6.xml b/config/OrphaNet/en_product6.xml
new file mode 100644
index 0000000..47c107f
--- /dev/null
+++ b/config/OrphaNet/en_product6.xml
@@ -0,0 +1,487875 @@
+<?xml version="1.0" encoding="ISO-8859-1"?>
+<JDBOR date="2022-11-28 07:48:57" version="1.3.18 / 4.1.7 [2022-07-12] (orientdb version)" copyright="Orphanet (c) 2022" dbserver="jdbc:sybase:Tds:canard.orpha.net:2020">
+  <Availability> 
+    <Licence>
+      <FullName lang="en">Creative Commons Attribution 4.0 International</FullName>
+      <ShortIdentifier>CC-BY-4.0</ShortIdentifier>
+      <LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode>
+    </Licence>
+  </Availability>
+  <DisorderList count="3930">
+    <Disorder id="17601">
+      <OrphaCode>166024</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166024</ExpertLink>
+      <Name lang="en">Multiple epiphyseal dysplasia, Al-Gazali type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22587682[PMID]</SourceOfValidation>
+          <Gene id="20160">
+            <Name lang="en">kinesin family member 7</Name>
+            <Symbol>KIF7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JBTS12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57240">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166813</Reference>
+              </ExternalReference>
+              <ExternalReference id="51758">
+                <Source>Genatlas</Source>
+                <Reference>KIF7</Reference>
+              </ExternalReference>
+              <ExternalReference id="51756">
+                <Source>HGNC</Source>
+                <Reference>30497</Reference>
+              </ExternalReference>
+              <ExternalReference id="51757">
+                <Source>OMIM</Source>
+                <Reference>611254</Reference>
+              </ExternalReference>
+              <ExternalReference id="97306">
+                <Source>Reactome</Source>
+                <Reference>Q2M1P5</Reference>
+              </ExternalReference>
+              <ExternalReference id="51759">
+                <Source>SwissProt</Source>
+                <Reference>Q2M1P5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16859">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="5">
+      <OrphaCode>93</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93</ExpertLink>
+      <Name lang="en">Aspartylglucosaminuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11309371[PMID]</SourceOfValidation>
+          <Gene id="15470">
+            <Name lang="en">aspartylglucosaminidase</Name>
+            <Symbol>AGA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ASRG</Synonym>
+              <Synonym lang="en">N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase</Synonym>
+              <Synonym lang="en">glycosylasparaginase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Reactome</Source>
+                <Reference>P20933</Reference>
+              </ExternalReference>
+              <ExternalReference id="56681">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000038002</Reference>
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+              <ExternalReference id="26679">
+                <Source>Genatlas</Source>
+                <Reference>AGA</Reference>
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+              <ExternalReference id="26681">
+                <Source>HGNC</Source>
+                <Reference>318</Reference>
+              </ExternalReference>
+              <ExternalReference id="44364">
+                <Source>OMIM</Source>
+                <Reference>613228</Reference>
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+              <ExternalReference id="32441">
+                <Source>SwissProt</Source>
+                <Reference>P20933</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4q34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17604">
+      <OrphaCode>166035</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166035</ExpertLink>
+      <Name lang="en">Brachydactyly-short stature-retinitis pigmentosa syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28285769[PMID]</SourceOfValidation>
+          <Gene id="26792">
+            <Name lang="en">CWC27 spliceosome associated cyclophilin</Name>
+            <Symbol>CWC27</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NY-CO-10</Synonym>
+              <Synonym lang="en">SDCCAG-10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
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+                <Source>HGNC</Source>
+                <Reference>10664</Reference>
+              </ExternalReference>
+              <ExternalReference id="200768">
+                <Source>SwissProt</Source>
+                <Reference>Q6UX04</Reference>
+              </ExternalReference>
+              <ExternalReference id="191319">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153015</Reference>
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+                <Source>OMIM</Source>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="6">
+      <OrphaCode>585</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585</ExpertLink>
+      <Name lang="en">Multiple sulfatase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17657823[PMID]</SourceOfValidation>
+          <Gene id="15570">
+            <Name lang="en">sulfatase modifying factor 1</Name>
+            <Symbol>SUMF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FGE</Synonym>
+              <Synonym lang="en">UNQ3037</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56683">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144455</Reference>
+              </ExternalReference>
+              <ExternalReference id="27163">
+                <Source>Genatlas</Source>
+                <Reference>SUMF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27161">
+                <Source>HGNC</Source>
+                <Reference>20376</Reference>
+              </ExternalReference>
+              <ExternalReference id="27160">
+                <Source>OMIM</Source>
+                <Reference>607939</Reference>
+              </ExternalReference>
+              <ExternalReference id="82828">
+                <Source>Reactome</Source>
+                <Reference>Q8NBK3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32541">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBK3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7659">
+                <GeneLocus>3p26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7">
+      <OrphaCode>118</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=118</ExpertLink>
+      <Name lang="en">Beta-mannosidosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18980795[PMID]</SourceOfValidation>
+          <Gene id="16375">
+            <Name lang="en">mannosidase beta</Name>
+            <Symbol>MANBA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">beta-mannosidase A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100307">
+                <Source>Reactome</Source>
+                <Reference>O00462</Reference>
+              </ExternalReference>
+              <ExternalReference id="31235">
+                <Source>Genatlas</Source>
+                <Reference>MANBA</Reference>
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+              <ExternalReference id="31013">
+                <Source>HGNC</Source>
+                <Reference>6831</Reference>
+              </ExternalReference>
+              <ExternalReference id="31012">
+                <Source>OMIM</Source>
+                <Reference>609489</Reference>
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+              <ExternalReference id="33439">
+                <Source>SwissProt</Source>
+                <Reference>O00462</Reference>
+              </ExternalReference>
+              <ExternalReference id="56684">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109323</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17608">
+      <OrphaCode>166063</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166063</ExpertLink>
+      <Name lang="en">Pontocerebellar hypoplasia type 4</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17741">
+            <Name lang="en">tRNA splicing endonuclease subunit 54</Name>
+            <Symbol>TSEN54</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SEN54</Synonym>
+              <Synonym lang="en">SEN54L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58222">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182173</Reference>
+              </ExternalReference>
+              <ExternalReference id="39384">
+                <Source>Genatlas</Source>
+                <Reference>TSEN54</Reference>
+              </ExternalReference>
+              <ExternalReference id="39385">
+                <Source>HGNC</Source>
+                <Reference>27561</Reference>
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+              <ExternalReference id="39386">
+                <Source>OMIM</Source>
+                <Reference>608755</Reference>
+              </ExternalReference>
+              <ExternalReference id="97270">
+                <Source>Reactome</Source>
+                <Reference>Q7Z6J9</Reference>
+              </ExternalReference>
+              <ExternalReference id="39387">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z6J9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17611">
+      <OrphaCode>166078</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166078</ExpertLink>
+      <Name lang="en">Von Willebrand disease type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301765[PMID]</SourceOfValidation>
+          <Gene id="15714">
+            <Name lang="en">von Willebrand factor</Name>
+            <Symbol>VWF</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110799</Reference>
+              </ExternalReference>
+              <ExternalReference id="27848">
+                <Source>Genatlas</Source>
+                <Reference>VWF</Reference>
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+              <ExternalReference id="27846">
+                <Source>HGNC</Source>
+                <Reference>12726</Reference>
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+              <ExternalReference id="48343">
+                <Source>OMIM</Source>
+                <Reference>613160</Reference>
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+              <ExternalReference id="60136">
+                <Source>Reactome</Source>
+                <Reference>P04275</Reference>
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+                <Reference>P04275</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Crohn disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16150725[PMID]_16150725[PMID]_21771795[PMID]</SourceOfValidation>
+          <Gene id="16791">
+            <Name lang="en">interleukin 6</Name>
+            <Symbol>IL6</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">HSF</Synonym>
+              <Synonym lang="en">IL-6</Synonym>
+              <Synonym lang="en">interferon, beta 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136244</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IL6</Reference>
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+                <Reference>6018</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P05231</Reference>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17804789[PMID]</SourceOfValidation>
+          <Gene id="16256">
+            <Name lang="en">interleukin 23 receptor</Name>
+            <Symbol>IL23R</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IL-23R</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q5VWK5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162594</Reference>
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+                <Reference>19100</Reference>
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+                <Reference>607562</Reference>
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+                <Reference>Q5VWK5</Reference>
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+              <ExternalReference id="193575">
+                <Source>IUPHAR</Source>
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+            <Name lang="en">nucleotide binding oligomerization domain containing 2</Name>
+            <Symbol>NOD2</Symbol>
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+              <Synonym lang="en">CD</Synonym>
+              <Synonym lang="en">CLR16.3</Synonym>
+              <Synonym lang="en">NLR family, CARD domain containing 2</Synonym>
+              <Synonym lang="en">NLRC2</Synonym>
+              <Synonym lang="en">NOD-like receptor C2</Synonym>
+              <Synonym lang="en">PSORAS1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167207</Reference>
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+                <Reference>5331</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21900546[PMID]_22158027[PMID]</SourceOfValidation>
+          <Gene id="18486">
+            <Name lang="en">neutrophil cytosolic factor 4</Name>
+            <Symbol>NCF4</Symbol>
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+              <Synonym lang="en">SH3PXD4</Synonym>
+              <Synonym lang="en">neutrophil NADPH oxidase factor 4</Synonym>
+              <Synonym lang="en">p40phox</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">autophagy related 16 like 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000085978</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Reference>735</Reference>
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+                <Reference>613468</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301765[PMID]</SourceOfValidation>
+          <Gene id="15714">
+            <Name lang="en">von Willebrand factor</Name>
+            <Symbol>VWF</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110799</Reference>
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+              <ExternalReference id="27848">
+                <Source>Genatlas</Source>
+                <Reference>VWF</Reference>
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+              <ExternalReference id="27846">
+                <Source>HGNC</Source>
+                <Reference>12726</Reference>
+              </ExternalReference>
+              <ExternalReference id="48343">
+                <Source>OMIM</Source>
+                <Reference>613160</Reference>
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+              <ExternalReference id="60136">
+                <Source>Reactome</Source>
+                <Reference>P04275</Reference>
+              </ExternalReference>
+              <ExternalReference id="32686">
+                <Source>SwissProt</Source>
+                <Reference>P04275</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>12p13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="15">
+      <OrphaCode>366</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=366</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to glycogen debranching enzyme deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10571954[PMID]_17908927[PMID]</SourceOfValidation>
+          <Gene id="15472">
+            <Name lang="en">amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase</Name>
+            <Symbol>AGL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GDE</Synonym>
+              <Synonym lang="en">glycogen debranching enzyme</Synonym>
+              <Synonym lang="en">glycogen storage disease type III</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="26689">
+                <Source>Genatlas</Source>
+                <Reference>AGL</Reference>
+              </ExternalReference>
+              <ExternalReference id="26691">
+                <Source>HGNC</Source>
+                <Reference>321</Reference>
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+              <ExternalReference id="26690">
+                <Source>OMIM</Source>
+                <Reference>610860</Reference>
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+              <ExternalReference id="56701">
+                <Source>Reactome</Source>
+                <Reference>P35573</Reference>
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+              <ExternalReference id="32443">
+                <Source>SwissProt</Source>
+                <Reference>P35573</Reference>
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+              <ExternalReference id="56700">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162688</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17616">
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+      <Name lang="en">Von Willebrand disease type 2N</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301765[PMID]</SourceOfValidation>
+          <Gene id="15714">
+            <Name lang="en">von Willebrand factor</Name>
+            <Symbol>VWF</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110799</Reference>
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+              <ExternalReference id="27848">
+                <Source>Genatlas</Source>
+                <Reference>VWF</Reference>
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+              <ExternalReference id="27846">
+                <Source>HGNC</Source>
+                <Reference>12726</Reference>
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+              <ExternalReference id="48343">
+                <Source>OMIM</Source>
+                <Reference>613160</Reference>
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+              <ExternalReference id="60136">
+                <Source>Reactome</Source>
+                <Reference>P04275</Reference>
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+              <ExternalReference id="32686">
+                <Source>SwissProt</Source>
+                <Reference>P04275</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>12p13.31</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17">
+      <OrphaCode>368</OrphaCode>
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+      <Name lang="en">Glycogen storage disease due to muscle glycogen phosphorylase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="15177">
+            <Name lang="en">glycogen phosphorylase, muscle associated</Name>
+            <Symbol>PYGM</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GSD5</Synonym>
+              <Synonym lang="en">McArdle syndrome</Synonym>
+              <Synonym lang="en">glycogen phosphorylase, muscle form</Synonym>
+              <Synonym lang="en">glycogen storage disease type V</Synonym>
+              <Synonym lang="en">myophosphorylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068976</Reference>
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+              <ExternalReference id="25276">
+                <Source>Genatlas</Source>
+                <Reference>PYGM</Reference>
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+              <ExternalReference id="25278">
+                <Source>HGNC</Source>
+                <Reference>9726</Reference>
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+              <ExternalReference id="25277">
+                <Source>OMIM</Source>
+                <Reference>608455</Reference>
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+              <ExternalReference id="56705">
+                <Source>Reactome</Source>
+                <Reference>P11217</Reference>
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+              <ExternalReference id="33701">
+                <Source>SwissProt</Source>
+                <Reference>P11217</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Von Willebrand disease type 3</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110799</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VWF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12726</Reference>
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+              <ExternalReference id="48343">
+                <Source>OMIM</Source>
+                <Reference>613160</Reference>
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+              <ExternalReference id="60136">
+                <Source>Reactome</Source>
+                <Reference>P04275</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04275</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Autosomal dominant otospondylomegaepiphyseal dysplasia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>COL2A1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <Name lang="en">collagen type XI alpha 2 chain</Name>
+            <Symbol>COL11A2</Symbol>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Glycogen storage disease due to muscle phosphofructokinase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">phosphofructokinase, muscle</Name>
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+              <Synonym lang="en">PPP1R122</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 122</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">FASTKD2-related infantile mitochondrial encephalomyopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">FAST kinase domains 2</Name>
+            <Symbol>FASTKD2</Symbol>
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+                <Reference>29160</Reference>
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+      <Name lang="en">Glycogen storage disease due to liver glycogen phosphorylase deficiency</Name>
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+          <Gene id="15176">
+            <Name lang="en">glycogen phosphorylase L</Name>
+            <Symbol>PYGL</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">Hers disease</Synonym>
+              <Synonym lang="en">glycogen phosphorylase, liver form</Synonym>
+              <Synonym lang="en">glycogen storage disease type VI</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P06737</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100504</Reference>
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+                <Reference>PYGL</Reference>
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+                <Reference>9725</Reference>
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+                <Reference>613741</Reference>
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+                <Source>Reactome</Source>
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+    <Disorder id="21">
+      <OrphaCode>447</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=447</ExpertLink>
+      <Name lang="en">Paroxysmal nocturnal hemoglobinuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22305531[PMID]</SourceOfValidation>
+          <Gene id="19197">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class A</Name>
+            <Symbol>PIGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPI3</Synonym>
+              <Synonym lang="en">paroxysmal nocturnal hemoglobinuria</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165195</Reference>
+              </ExternalReference>
+              <ExternalReference id="46177">
+                <Source>Genatlas</Source>
+                <Reference>PIGA</Reference>
+              </ExternalReference>
+              <ExternalReference id="46178">
+                <Source>HGNC</Source>
+                <Reference>8957</Reference>
+              </ExternalReference>
+              <ExternalReference id="46180">
+                <Source>OMIM</Source>
+                <Reference>311770</Reference>
+              </ExternalReference>
+              <ExternalReference id="56711">
+                <Source>Reactome</Source>
+                <Reference>P37287</Reference>
+              </ExternalReference>
+              <ExternalReference id="46179">
+                <Source>SwissProt</Source>
+                <Reference>P37287</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22873">
+                <GeneLocus>Xp22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17620">
+      <OrphaCode>166108</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166108</ExpertLink>
+      <Name lang="en">Intellectual disability, Birk-Barel type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18678320[PMID]</SourceOfValidation>
+          <Gene id="17623">
+            <Name lang="en">potassium two pore domain channel subfamily K member 9</Name>
+            <Symbol>KCNK9</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">K2p9.1</Synonym>
+              <Synonym lang="en">TASK-3</Synonym>
+              <Synonym lang="en">TASK3</Synonym>
+              <Synonym lang="en">TWIK-related acid-sensitive K+ 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60139">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169427</Reference>
+              </ExternalReference>
+              <ExternalReference id="38727">
+                <Source>Genatlas</Source>
+                <Reference>KCNK9</Reference>
+              </ExternalReference>
+              <ExternalReference id="38801">
+                <Source>HGNC</Source>
+                <Reference>6283</Reference>
+              </ExternalReference>
+              <ExternalReference id="83108">
+                <Source>IUPHAR</Source>
+                <Reference>520</Reference>
+              </ExternalReference>
+              <ExternalReference id="38729">
+                <Source>OMIM</Source>
+                <Reference>605874</Reference>
+              </ExternalReference>
+              <ExternalReference id="60140">
+                <Source>Reactome</Source>
+                <Reference>Q9NPC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="38730">
+                <Source>SwissProt</Source>
+                <Reference>Q9NPC2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10313">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17622">
+      <OrphaCode>166119</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166119</ExpertLink>
+      <Name lang="en">Isolated osteopoikilosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26694706[PMID]</SourceOfValidation>
+          <Gene id="16349">
+            <Name lang="en">LEM domain containing 3</Name>
+            <Symbol>LEMD3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAN antigen 1</Synonym>
+              <Synonym lang="en">MAN1</Synonym>
+              <Synonym lang="en">inner nuclear membrane protein Man1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174106</Reference>
+              </ExternalReference>
+              <ExternalReference id="30893">
+                <Source>Genatlas</Source>
+                <Reference>LEMD3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30891">
+                <Source>HGNC</Source>
+                <Reference>28887</Reference>
+              </ExternalReference>
+              <ExternalReference id="30890">
+                <Source>OMIM</Source>
+                <Reference>607844</Reference>
+              </ExternalReference>
+              <ExternalReference id="82979">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2U8</Reference>
+              </ExternalReference>
+              <ExternalReference id="33414">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2U8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20641">
+                <GeneLocus>12q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17624">
+      <OrphaCode>166260</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166260</ExpertLink>
+      <Name lang="en">Dentinogenesis imperfecta type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15896">
+            <Name lang="en">dentin sialophosphoprotein</Name>
+            <Symbol>DSPP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DMP3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28699">
+                <Source>HGNC</Source>
+                <Reference>3054</Reference>
+              </ExternalReference>
+              <ExternalReference id="28698">
+                <Source>OMIM</Source>
+                <Reference>125485</Reference>
+              </ExternalReference>
+              <ExternalReference id="82886">
+                <Source>Reactome</Source>
+                <Reference>Q9NZW4</Reference>
+              </ExternalReference>
+              <ExternalReference id="32907">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZW4</Reference>
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+              <ExternalReference id="58097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152591</Reference>
+              </ExternalReference>
+              <ExternalReference id="28697">
+                <Source>Genatlas</Source>
+                <Reference>DSPP</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24897">
+                <GeneLocus>4q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17625">
+      <OrphaCode>166265</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166265</ExpertLink>
+      <Name lang="en">Dentinogenesis imperfecta type 3</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15896">
+            <Name lang="en">dentin sialophosphoprotein</Name>
+            <Symbol>DSPP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DMP3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="28699">
+                <Source>HGNC</Source>
+                <Reference>3054</Reference>
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+              <ExternalReference id="28698">
+                <Source>OMIM</Source>
+                <Reference>125485</Reference>
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+              <ExternalReference id="82886">
+                <Source>Reactome</Source>
+                <Reference>Q9NZW4</Reference>
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+              <ExternalReference id="32907">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZW4</Reference>
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+              <ExternalReference id="58097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152591</Reference>
+              </ExternalReference>
+              <ExternalReference id="28697">
+                <Source>Genatlas</Source>
+                <Reference>DSPP</Reference>
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+                <GeneLocus>4q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17626">
+      <OrphaCode>166272</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166272</ExpertLink>
+      <Name lang="en">Odontochondrodysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30728324[PMID]</SourceOfValidation>
+          <Gene id="18995">
+            <Name lang="en">thyroid hormone receptor interactor 11</Name>
+            <Symbol>TRIP11</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CEV14</Synonym>
+              <Synonym lang="en">GMAP-210</Synonym>
+              <Synonym lang="en">GMAP210</Synonym>
+              <Synonym lang="en">Trip230</Synonym>
+              <Synonym lang="en">golgi-microtubule-associated-protein of 210 kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="44575">
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+                <Reference>604505</Reference>
+              </ExternalReference>
+              <ExternalReference id="97290">
+                <Source>Reactome</Source>
+                <Reference>Q15643</Reference>
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+              <ExternalReference id="44576">
+                <Source>SwissProt</Source>
+                <Reference>Q15643</Reference>
+              </ExternalReference>
+              <ExternalReference id="59679">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100815</Reference>
+              </ExternalReference>
+              <ExternalReference id="44573">
+                <Source>Genatlas</Source>
+                <Reference>TRIP11</Reference>
+              </ExternalReference>
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+                <Reference>12305</Reference>
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+                <GeneLocus>14q32.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="27">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=576</ExpertLink>
+      <Name lang="en">Mucolipidosis type II</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>18425436[PMID]</SourceOfValidation>
+          <Gene id="16152">
+            <Name lang="en">N-acetylglucosamine-1-phosphate transferase subunits alpha and beta</Name>
+            <Symbol>GNPTAB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1208</Synonym>
+              <Synonym lang="en">MGC4170</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143470">
+                <Source>Reactome</Source>
+                <Reference>Q3T906</Reference>
+              </ExternalReference>
+              <ExternalReference id="56716">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111670</Reference>
+              </ExternalReference>
+              <ExternalReference id="36977">
+                <Source>Genatlas</Source>
+                <Reference>GNPTAB</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>29670</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>607840</Reference>
+              </ExternalReference>
+              <ExternalReference id="33171">
+                <Source>SwissProt</Source>
+                <Reference>Q3T906</Reference>
+              </ExternalReference>
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+                <GeneLocus>12q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=812</ExpertLink>
+      <Name lang="en">Sialidosis type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>14517945[PMID]</SourceOfValidation>
+          <Gene id="16539">
+            <Name lang="en">neuraminidase 1</Name>
+            <Symbol>NEU1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
+                <Reference>NEU1</Reference>
+              </ExternalReference>
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+                <Reference>7758</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608272</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q99519</Reference>
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+              <ExternalReference id="33604">
+                <Source>SwissProt</Source>
+                <Reference>Q99519</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204386</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="17628">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166282</ExpertLink>
+      <Name lang="en">Familial sick sinus syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <Gene id="15254">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 5</Name>
+            <Symbol>SCN5A</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">CDCD2</Synonym>
+              <Synonym lang="en">CMPD2</Synonym>
+              <Synonym lang="en">HB1</Synonym>
+              <Synonym lang="en">HB2</Synonym>
+              <Synonym lang="en">HBBD</Synonym>
+              <Synonym lang="en">HH1</Synonym>
+              <Synonym lang="en">ICCD</Synonym>
+              <Synonym lang="en">IVF</Synonym>
+              <Synonym lang="en">LQT3</Synonym>
+              <Synonym lang="en">Nav1.5</Synonym>
+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
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+                <Reference>600163</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
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+                <Reference>Q14524</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16188">
+            <Name lang="en">hyperpolarization activated cyclic nucleotide gated potassium channel 4</Name>
+            <Symbol>HCN4</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Mucolipidosis type IV</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">TRPML1</Synonym>
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+              <Synonym lang="en">transient receptor potential cation channel mucolipin subfamily member 1</Synonym>
+              <Synonym lang="en">transient receptor potential mucolipin 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Porokeratotic eccrine ostial and dermal duct nevus</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <LocusList count="1">
+              <Locus id="24041">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="43">
+      <OrphaCode>856</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=856</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Tourette syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22410579[PMID]_20301778[PMID]_16224024[PMID]_18698576[PMID]</SourceOfValidation>
+          <Gene id="15522">
+            <Name lang="en">SLIT and NTRK like family member 1</Name>
+            <Symbol>SLITRK1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1910</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143175">
+                <Source>Reactome</Source>
+                <Reference>Q96PX8</Reference>
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+              <ExternalReference id="56730">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178235</Reference>
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+              <ExternalReference id="26932">
+                <Source>Genatlas</Source>
+                <Reference>SLITRK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20297</Reference>
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+              <ExternalReference id="26933">
+                <Source>OMIM</Source>
+                <Reference>609678</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22410579[PMID]_24549057[PMID]</SourceOfValidation>
+          <Gene id="16258">
+            <Name lang="en">inner mitochondrial membrane peptidase subunit 2</Name>
+            <Symbol>IMMP2L</Symbol>
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+              <Synonym lang="en">IMP2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184903</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IMMP2L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14598</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96T52</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20445167[PMID]_23825391[PMID]_24411733[PMID]</SourceOfValidation>
+          <Gene id="23008">
+            <Name lang="en">histidine decarboxylase</Name>
+            <Symbol>HDC</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1274</Reference>
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+              <ExternalReference id="94653">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140287</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HDC</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97022">
+                <Source>Reactome</Source>
+                <Reference>P19113</Reference>
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+                <Reference>P19113</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=584</ExpertLink>
+      <Name lang="en">Mucopolysaccharidosis type 7</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">glucuronidase beta</Name>
+            <Symbol>GUSB</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>4696</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611499</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08236</Reference>
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+              <ExternalReference id="33198">
+                <Source>SwissProt</Source>
+                <Reference>P08236</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169919</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=825</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Ankylosing spondylitis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16200">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P01889</Reference>
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+              <ExternalReference id="135297">
+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17640">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166412</ExpertLink>
+      <Name lang="en">Hot water reflex epilepsy</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">solute carrier family 1 member 1</Name>
+            <Symbol>SLC1A1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>10939</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <SynonymList count="4">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">serpin family A member 1</Name>
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+              <Synonym lang="en">alpha-1 antitrypsin</Synonym>
+              <Synonym lang="en">alpha-1 proteinase inhibitor</Synonym>
+              <Synonym lang="en">alpha-1-antitrypsin</Synonym>
+              <Synonym lang="en">alpha1AT</Synonym>
+              <Synonym lang="en">anti-elastase</Synonym>
+              <Synonym lang="en">protease inhibitor 1</Synonym>
+              <Synonym lang="en">protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 26 member 9</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+          <SourceOfValidation>28756021[PMID]</SourceOfValidation>
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+                <Reference>Q9UN76</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29915289[PMID]</SourceOfValidation>
+          <Gene id="23430">
+            <Name lang="en">potassium calcium-activated channel subfamily N member 4</Name>
+            <Symbol>KCNN4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">IK</Synonym>
+              <Synonym lang="en">KCa3.1</Synonym>
+              <Synonym lang="en">hIKCa1</Synonym>
+              <Synonym lang="en">hKCa4</Synonym>
+              <Synonym lang="en">hSK4</Synonym>
+              <Synonym lang="en">intermediate conductance calcium-activated potassium channel</Synonym>
+              <Synonym lang="en">small conductance calcium-activated potassium channel 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96866">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104783</Reference>
+              </ExternalReference>
+              <ExternalReference id="96863">
+                <Source>Genatlas</Source>
+                <Reference>KCNN4</Reference>
+              </ExternalReference>
+              <ExternalReference id="96861">
+                <Source>HGNC</Source>
+                <Reference>6293</Reference>
+              </ExternalReference>
+              <ExternalReference id="96867">
+                <Source>IUPHAR</Source>
+                <Reference>384</Reference>
+              </ExternalReference>
+              <ExternalReference id="96862">
+                <Source>OMIM</Source>
+                <Reference>602754</Reference>
+              </ExternalReference>
+              <ExternalReference id="96865">
+                <Source>Reactome</Source>
+                <Reference>O15554</Reference>
+              </ExternalReference>
+              <ExternalReference id="96864">
+                <Source>SwissProt</Source>
+                <Reference>O15554</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26551">
+                <GeneLocus>19q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16179637[PMID]</SourceOfValidation>
+          <Gene id="16399">
+            <Name lang="en">macrophage migration inhibitory factor</Name>
+            <Symbol>MIF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GIF</Synonym>
+              <Synonym lang="en">glycosylation-inhibiting factor</Synonym>
+              <Synonym lang="en">phenylpyruvate tautomerase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33463">
+                <Source>SwissProt</Source>
+                <Reference>P14174</Reference>
+              </ExternalReference>
+              <ExternalReference id="59464">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000240972</Reference>
+              </ExternalReference>
+              <ExternalReference id="37516">
+                <Source>Genatlas</Source>
+                <Reference>MIF</Reference>
+              </ExternalReference>
+              <ExternalReference id="31129">
+                <Source>HGNC</Source>
+                <Reference>7097</Reference>
+              </ExternalReference>
+              <ExternalReference id="31128">
+                <Source>OMIM</Source>
+                <Reference>153620</Reference>
+              </ExternalReference>
+              <ExternalReference id="98066">
+                <Source>Reactome</Source>
+                <Reference>P14174</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17743">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28756021[PMID]</SourceOfValidation>
+          <Gene id="17203">
+            <Name lang="en">solute carrier family 11 member 1</Name>
+            <Symbol>SLC11A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190429">
+                <Source>IUPHAR</Source>
+                <Reference>966</Reference>
+              </ExternalReference>
+              <ExternalReference id="57737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000018280</Reference>
+              </ExternalReference>
+              <ExternalReference id="36293">
+                <Source>Genatlas</Source>
+                <Reference>SLC11A1</Reference>
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+              <ExternalReference id="36292">
+                <Source>HGNC</Source>
+                <Reference>10907</Reference>
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+              <ExternalReference id="36294">
+                <Source>OMIM</Source>
+                <Reference>600266</Reference>
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+              <ExternalReference id="57738">
+                <Source>Reactome</Source>
+                <Reference>P49279</Reference>
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+              <ExternalReference id="36295">
+                <Source>SwissProt</Source>
+                <Reference>P49279</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60267">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="63">
+      <OrphaCode>550</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=550</ExpertLink>
+      <Name lang="en">MELAS</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16844">
+            <Name lang="en">mitochondrially encoded tRNA-Gln (CAA/G)</Name>
+            <Symbol>MT-TQ</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnQ</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83045">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210107</Reference>
+              </ExternalReference>
+              <ExternalReference id="35219">
+                <Source>Genatlas</Source>
+                <Reference>MT-TQ</Reference>
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+              <ExternalReference id="35220">
+                <Source>HGNC</Source>
+                <Reference>7495</Reference>
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+              <ExternalReference id="46813">
+                <Source>OMIM</Source>
+                <Reference>590030</Reference>
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+              <Locus id="9793">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22832341[PMID]_19568996[PMID]</SourceOfValidation>
+          <Gene id="16471">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase I</Name>
+            <Symbol>MT-CO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COI</Synonym>
+              <Synonym lang="en">COX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198804</Reference>
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+              <ExternalReference id="37247">
+                <Source>Genatlas</Source>
+                <Reference>MT-CO1</Reference>
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+              <ExternalReference id="31458">
+                <Source>HGNC</Source>
+                <Reference>7419</Reference>
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+              <ExternalReference id="31457">
+                <Source>OMIM</Source>
+                <Reference>516030</Reference>
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+              <ExternalReference id="56919">
+                <Source>Reactome</Source>
+                <Reference>P00395</Reference>
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+              <ExternalReference id="33536">
+                <Source>SwissProt</Source>
+                <Reference>P00395</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18245391[PMID]</SourceOfValidation>
+          <Gene id="16472">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase II</Name>
+            <Symbol>MT-CO2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CO2</Synonym>
+              <Synonym lang="en">COX2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60485">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198712</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7421</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P00403</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00403</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18587274[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded cytochrome c oxidase III</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">CO3</Synonym>
+              <Synonym lang="en">COIII</Synonym>
+              <Synonym lang="en">COX3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56749">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198938</Reference>
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+              <ExternalReference id="37249">
+                <Source>Genatlas</Source>
+                <Reference>MT-CO3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7422</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516050</Reference>
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+              <ExternalReference id="56750">
+                <Source>Reactome</Source>
+                <Reference>P00414</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 1</Synonym>
+              <Synonym lang="en">ND1</Synonym>
+              <Synonym lang="en">complex I ND1 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198888</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-ND1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7455</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516000</Reference>
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+              <ExternalReference id="56742">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P03886</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4</Name>
+            <Symbol>MT-ND4</Symbol>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 4</Synonym>
+              <Synonym lang="en">ND4</Synonym>
+              <Synonym lang="en">complex I ND4 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56743">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198886</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-ND4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7459</Reference>
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+              <ExternalReference id="31500">
+                <Source>OMIM</Source>
+                <Reference>516003</Reference>
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+              <ExternalReference id="56744">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 5</Synonym>
+              <Synonym lang="en">ND5</Synonym>
+              <Synonym lang="en">complex I ND5 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>7461</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516005</Reference>
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+              <ExternalReference id="56746">
+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 6</Synonym>
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+              <Synonym lang="en">complex I ND6 subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>7462</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516006</Reference>
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+              <ExternalReference id="56748">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>7490</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23696415[PMID]</SourceOfValidation>
+          <Gene id="17473">
+            <Name lang="en">mitochondrially encoded tRNA-Trp (UGA/G)</Name>
+            <Symbol>MT-TW</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnW</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="38241">
+                <Source>HGNC</Source>
+                <Reference>7501</Reference>
+              </ExternalReference>
+              <ExternalReference id="38242">
+                <Source>OMIM</Source>
+                <Reference>590095</Reference>
+              </ExternalReference>
+              <ExternalReference id="83100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210117</Reference>
+              </ExternalReference>
+              <ExternalReference id="38240">
+                <Source>Genatlas</Source>
+                <Reference>MT-TW</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10271">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14967777[PMID]_15111688[PMID]</SourceOfValidation>
+          <Gene id="17671">
+            <Name lang="en">mitochondrially encoded tRNA-His (CAU/C)</Name>
+            <Symbol>MT-TH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnH</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83109">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210176</Reference>
+              </ExternalReference>
+              <ExternalReference id="98046">
+                <Source>Genatlas</Source>
+                <Reference>TRNH</Reference>
+              </ExternalReference>
+              <ExternalReference id="38847">
+                <Source>HGNC</Source>
+                <Reference>7487</Reference>
+              </ExternalReference>
+              <ExternalReference id="38848">
+                <Source>OMIM</Source>
+                <Reference>590040</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17703">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17894844[PMID]</SourceOfValidation>
+          <Gene id="17722">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (UCN) 1</Name>
+            <Symbol>MT-TS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNS1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210151</Reference>
+              </ExternalReference>
+              <ExternalReference id="39137">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39138">
+                <Source>HGNC</Source>
+                <Reference>7497</Reference>
+              </ExternalReference>
+              <ExternalReference id="39139">
+                <Source>OMIM</Source>
+                <Reference>590080</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10371">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16950817[PMID]</SourceOfValidation>
+          <Gene id="17723">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (AGU/C) 2</Name>
+            <Symbol>MT-TS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RP8</Synonym>
+              <Synonym lang="en">TRNS2</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="39142">
+                <Source>HGNC</Source>
+                <Reference>7498</Reference>
+              </ExternalReference>
+              <ExternalReference id="39143">
+                <Source>OMIM</Source>
+                <Reference>590085</Reference>
+              </ExternalReference>
+              <ExternalReference id="83112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210184</Reference>
+              </ExternalReference>
+              <ExternalReference id="39141">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10373">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9771776[PMID]</SourceOfValidation>
+          <Gene id="17724">
+            <Name lang="en">mitochondrially encoded tRNA-Phe (UUU/C)</Name>
+            <Symbol>MT-TF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnF</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210049</Reference>
+              </ExternalReference>
+              <ExternalReference id="39145">
+                <Source>Genatlas</Source>
+                <Reference>MT-TF</Reference>
+              </ExternalReference>
+              <ExternalReference id="39146">
+                <Source>HGNC</Source>
+                <Reference>7481</Reference>
+              </ExternalReference>
+              <ExternalReference id="39147">
+                <Source>OMIM</Source>
+                <Reference>590070</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10375">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="62">
+      <OrphaCode>269</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=269</ExpertLink>
+      <Name lang="en">Facioscapulohumeral dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27153398[PMID]</SourceOfValidation>
+          <Gene id="15883">
+            <Name lang="en">DNA methyltransferase 3 beta</Name>
+            <Symbol>DNMT3B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57919">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088305</Reference>
+              </ExternalReference>
+              <ExternalReference id="28638">
+                <Source>Genatlas</Source>
+                <Reference>DNMT3B</Reference>
+              </ExternalReference>
+              <ExternalReference id="28640">
+                <Source>HGNC</Source>
+                <Reference>2979</Reference>
+              </ExternalReference>
+              <ExternalReference id="28639">
+                <Source>OMIM</Source>
+                <Reference>602900</Reference>
+              </ExternalReference>
+              <ExternalReference id="87976">
+                <Source>Reactome</Source>
+                <Reference>Q9UBC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32894">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBC3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23229">
+                <GeneLocus>20q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="25108">
+            <Name lang="en">double homeobox 4</Name>
+            <Symbol>DUX4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143360">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="134954">
+                <Source>HGNC</Source>
+                <Reference>50800</Reference>
+              </ExternalReference>
+              <ExternalReference id="134955">
+                <Source>OMIM</Source>
+                <Reference>606009</Reference>
+              </ExternalReference>
+              <ExternalReference id="134956">
+                <Source>Genatlas</Source>
+                <Reference>DUX4</Reference>
+              </ExternalReference>
+              <ExternalReference id="134957">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="134958">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000260596</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38437">
+                <GeneLocus>4q35.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15901">
+            <Name lang="en">double homeobox 4 like 1 (pseudogene)</Name>
+            <Symbol>DUX4L1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="96210">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000280757</Reference>
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+              <ExternalReference id="28723">
+                <Source>HGNC</Source>
+                <Reference>3082</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35825">
+                <GeneLocus>4q35.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23300487[PMID]_23525014[PMID]_23720823[PMID]</SourceOfValidation>
+          <Gene id="16073">
+            <Name lang="en">FSHD region gene 1</Name>
+            <Symbol>FRG1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FRG1A</Synonym>
+              <Synonym lang="en">FSG1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56740">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109536</Reference>
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+              <ExternalReference id="37463">
+                <Source>Genatlas</Source>
+                <Reference>FRG1</Reference>
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+              <ExternalReference id="29577">
+                <Source>HGNC</Source>
+                <Reference>3954</Reference>
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+              <ExternalReference id="29576">
+                <Source>OMIM</Source>
+                <Reference>601278</Reference>
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+              <ExternalReference id="33088">
+                <Source>SwissProt</Source>
+                <Reference>Q14331</Reference>
+              </ExternalReference>
+              <ExternalReference id="142821">
+                <Source>Reactome</Source>
+                <Reference>Q14331</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23143600[PMID]_24128691[PMID]</SourceOfValidation>
+          <Gene id="21703">
+            <Name lang="en">structural maintenance of chromosomes flexible hinge domain containing 1</Name>
+            <Symbol>SMCHD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FSHD2</Synonym>
+              <Synonym lang="en">KIAA0650</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101596</Reference>
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+              <ExternalReference id="75866">
+                <Source>Genatlas</Source>
+                <Reference>SMCHD1</Reference>
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+              <ExternalReference id="75864">
+                <Source>HGNC</Source>
+                <Reference>29090</Reference>
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+              <ExternalReference id="75865">
+                <Source>OMIM</Source>
+                <Reference>614982</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>A6NHR9</Reference>
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+            <LocusList count="1">
+              <Locus id="12273">
+                <GeneLocus>18p11.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24075187[PMID]</SourceOfValidation>
+          <Gene id="21703">
+            <Name lang="en">structural maintenance of chromosomes flexible hinge domain containing 1</Name>
+            <Symbol>SMCHD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FSHD2</Synonym>
+              <Synonym lang="en">KIAA0650</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101596</Reference>
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+              <ExternalReference id="75866">
+                <Source>Genatlas</Source>
+                <Reference>SMCHD1</Reference>
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+              <ExternalReference id="75864">
+                <Source>HGNC</Source>
+                <Reference>29090</Reference>
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+              <ExternalReference id="75865">
+                <Source>OMIM</Source>
+                <Reference>614982</Reference>
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+              <ExternalReference id="75867">
+                <Source>SwissProt</Source>
+                <Reference>A6NHR9</Reference>
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+            <LocusList count="1">
+              <Locus id="12273">
+                <GeneLocus>18p11.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="61">
+      <OrphaCode>480</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=480</ExpertLink>
+      <Name lang="en">Kearns-Sayre syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
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+          <Gene id="17396">
+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 8</Name>
+            <Symbol>MT-ATP8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">A6L</Synonym>
+              <Synonym lang="en">ATP8</Synonym>
+              <Synonym lang="en">URFA6L</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit A6L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190425">
+                <Source>IUPHAR</Source>
+                <Reference>809</Reference>
+              </ExternalReference>
+              <ExternalReference id="37636">
+                <Source>Genatlas</Source>
+                <Reference>MT-ATP8</Reference>
+              </ExternalReference>
+              <ExternalReference id="37245">
+                <Source>HGNC</Source>
+                <Reference>7415</Reference>
+              </ExternalReference>
+              <ExternalReference id="37244">
+                <Source>OMIM</Source>
+                <Reference>516070</Reference>
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+              <ExternalReference id="56736">
+                <Source>Reactome</Source>
+                <Reference>P03928</Reference>
+              </ExternalReference>
+              <ExternalReference id="37246">
+                <Source>SwissProt</Source>
+                <Reference>P03928</Reference>
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+              <ExternalReference id="82640">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000228253</Reference>
+              </ExternalReference>
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+              <Locus id="60259">
+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21378381[PMID]</SourceOfValidation>
+          <Gene id="17734">
+            <Name lang="en">ribonucleotide reductase regulatory TP53 inducible subunit M2B</Name>
+            <Symbol>RRM2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p53R2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048392</Reference>
+              </ExternalReference>
+              <ExternalReference id="39297">
+                <Source>Genatlas</Source>
+                <Reference>RRM2B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17296</Reference>
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+              <ExternalReference id="87983">
+                <Source>IUPHAR</Source>
+                <Reference>2754</Reference>
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+              <ExternalReference id="39299">
+                <Source>OMIM</Source>
+                <Reference>604712</Reference>
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+              <ExternalReference id="82668">
+                <Source>Reactome</Source>
+                <Reference>Q7LG56</Reference>
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+              <ExternalReference id="82614">
+                <Source>SwissProt</Source>
+                <Reference>Q7LG56</Reference>
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+              <Locus id="23911">
+                <GeneLocus>8q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16841">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
+            <Symbol>MT-TL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
+              </ExternalReference>
+              <ExternalReference id="35211">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35210">
+                <Source>HGNC</Source>
+                <Reference>7490</Reference>
+              </ExternalReference>
+              <ExternalReference id="35884">
+                <Source>OMIM</Source>
+                <Reference>590050</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9787">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="64">
+      <OrphaCode>551</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=551</ExpertLink>
+      <Name lang="en">MERRF</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19273760[PMID]_27816331[PMID]</SourceOfValidation>
+          <Gene id="18493">
+            <Name lang="en">mitochondrially encoded tRNA-Pro (CCN)</Name>
+            <Symbol>MT-TP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnP</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83149">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210196</Reference>
+              </ExternalReference>
+              <ExternalReference id="42690">
+                <Source>Genatlas</Source>
+                <Reference>MT-TP</Reference>
+              </ExternalReference>
+              <ExternalReference id="42691">
+                <Source>HGNC</Source>
+                <Reference>7494</Reference>
+              </ExternalReference>
+              <ExternalReference id="42692">
+                <Source>OMIM</Source>
+                <Reference>590075</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10811">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16483">
+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5</Name>
+            <Symbol>MT-ND5</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NAD5</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 5</Synonym>
+              <Synonym lang="en">ND5</Synonym>
+              <Synonym lang="en">complex I ND5 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56745">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198786</Reference>
+              </ExternalReference>
+              <ExternalReference id="37261">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31509">
+                <Source>HGNC</Source>
+                <Reference>7461</Reference>
+              </ExternalReference>
+              <ExternalReference id="31508">
+                <Source>OMIM</Source>
+                <Reference>516005</Reference>
+              </ExternalReference>
+              <ExternalReference id="56746">
+                <Source>Reactome</Source>
+                <Reference>P03915</Reference>
+              </ExternalReference>
+              <ExternalReference id="33548">
+                <Source>SwissProt</Source>
+                <Reference>P03915</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9351">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8254046[PMID]</SourceOfValidation>
+          <Gene id="16841">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
+            <Symbol>MT-TL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
+              </ExternalReference>
+              <ExternalReference id="35211">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35210">
+                <Source>HGNC</Source>
+                <Reference>7490</Reference>
+              </ExternalReference>
+              <ExternalReference id="35884">
+                <Source>OMIM</Source>
+                <Reference>590050</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9787">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301693[PMID]</SourceOfValidation>
+          <Gene id="16842">
+            <Name lang="en">mitochondrially encoded tRNA-Lys (AAA/G)</Name>
+            <Symbol>MT-TK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnK</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210156</Reference>
+              </ExternalReference>
+              <ExternalReference id="35213">
+                <Source>Genatlas</Source>
+                <Reference>MT-TK</Reference>
+              </ExternalReference>
+              <ExternalReference id="35214">
+                <Source>HGNC</Source>
+                <Reference>7489</Reference>
+              </ExternalReference>
+              <ExternalReference id="35885">
+                <Source>OMIM</Source>
+                <Reference>590060</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9789">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16843">
+            <Name lang="en">mitochondrially encoded 12S rRNA</Name>
+            <Symbol>MT-RNR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">12S</Synonym>
+              <Synonym lang="en">MOTS-c</Synonym>
+              <Synonym lang="en">mitochondrial open-reading-frame of the twelve S rRNA type-c</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="100283">
+                <Source>SwissProt</Source>
+                <Reference>A0A0C5B5G6</Reference>
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+              <ExternalReference id="83044">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000211459</Reference>
+              </ExternalReference>
+              <ExternalReference id="35217">
+                <Source>Genatlas</Source>
+                <Reference>MT-RNR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35216">
+                <Source>HGNC</Source>
+                <Reference>7470</Reference>
+              </ExternalReference>
+              <ExternalReference id="40551">
+                <Source>OMIM</Source>
+                <Reference>561000</Reference>
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+            <LocusList count="1">
+              <Locus id="19141">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23179085[PMID]</SourceOfValidation>
+          <Gene id="16844">
+            <Name lang="en">mitochondrially encoded tRNA-Gln (CAA/G)</Name>
+            <Symbol>MT-TQ</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnQ</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83045">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210107</Reference>
+              </ExternalReference>
+              <ExternalReference id="35219">
+                <Source>Genatlas</Source>
+                <Reference>MT-TQ</Reference>
+              </ExternalReference>
+              <ExternalReference id="35220">
+                <Source>HGNC</Source>
+                <Reference>7495</Reference>
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+              <ExternalReference id="46813">
+                <Source>OMIM</Source>
+                <Reference>590030</Reference>
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+            <LocusList count="1">
+              <Locus id="9793">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14967777[PMID]</SourceOfValidation>
+          <Gene id="17671">
+            <Name lang="en">mitochondrially encoded tRNA-His (CAU/C)</Name>
+            <Symbol>MT-TH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnH</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83109">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210176</Reference>
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+              <ExternalReference id="98046">
+                <Source>Genatlas</Source>
+                <Reference>TRNH</Reference>
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+              <ExternalReference id="38847">
+                <Source>HGNC</Source>
+                <Reference>7487</Reference>
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+              <ExternalReference id="38848">
+                <Source>OMIM</Source>
+                <Reference>590040</Reference>
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+            <LocusList count="1">
+              <Locus id="17703">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7669057[PMID]</SourceOfValidation>
+          <Gene id="17722">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (UCN) 1</Name>
+            <Symbol>MT-TS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNS1</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210151</Reference>
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+              <ExternalReference id="39137">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS1</Reference>
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+              <ExternalReference id="39138">
+                <Source>HGNC</Source>
+                <Reference>7497</Reference>
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+              <ExternalReference id="39139">
+                <Source>OMIM</Source>
+                <Reference>590080</Reference>
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+            <LocusList count="1">
+              <Locus id="10371">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16950817[PMID]</SourceOfValidation>
+          <Gene id="17723">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (AGU/C) 2</Name>
+            <Symbol>MT-TS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RP8</Synonym>
+              <Synonym lang="en">TRNS2</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="39142">
+                <Source>HGNC</Source>
+                <Reference>7498</Reference>
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+              <ExternalReference id="39143">
+                <Source>OMIM</Source>
+                <Reference>590085</Reference>
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+              <ExternalReference id="83112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210184</Reference>
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+              <ExternalReference id="39141">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15184630[PMID]</SourceOfValidation>
+          <Gene id="17724">
+            <Name lang="en">mitochondrially encoded tRNA-Phe (UUU/C)</Name>
+            <Symbol>MT-TF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnF</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
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+              <ExternalReference id="83113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210049</Reference>
+              </ExternalReference>
+              <ExternalReference id="39145">
+                <Source>Genatlas</Source>
+                <Reference>MT-TF</Reference>
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+              <ExternalReference id="39146">
+                <Source>HGNC</Source>
+                <Reference>7481</Reference>
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+              <ExternalReference id="39147">
+                <Source>OMIM</Source>
+                <Reference>590070</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="65">
+      <OrphaCode>597</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=597</ExpertLink>
+      <Name lang="en">Central core disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301565[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
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+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
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+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
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+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
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+                <Reference>P21817</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>163746</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163746</ExpertLink>
+      <Name lang="en">Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22963253[PMID]_24311220[PMID]</SourceOfValidation>
+          <Gene id="15538">
+            <Name lang="en">SRY-box transcription factor 10</Name>
+            <Symbol>SOX10</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DOM</Synonym>
+              <Synonym lang="en">WS2E</Synonym>
+              <Synonym lang="en">WS4</Synonym>
+              <Synonym lang="en">dominant megacolon, mouse, human homolog of</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100146</Reference>
+              </ExternalReference>
+              <ExternalReference id="27008">
+                <Source>Genatlas</Source>
+                <Reference>SOX10</Reference>
+              </ExternalReference>
+              <ExternalReference id="27010">
+                <Source>HGNC</Source>
+                <Reference>11190</Reference>
+              </ExternalReference>
+              <ExternalReference id="27009">
+                <Source>OMIM</Source>
+                <Reference>602229</Reference>
+              </ExternalReference>
+              <ExternalReference id="32509">
+                <Source>SwissProt</Source>
+                <Reference>P56693</Reference>
+              </ExternalReference>
+              <ExternalReference id="143985">
+                <Source>Reactome</Source>
+                <Reference>P56693</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39441">
+                <GeneLocus>22q13.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="76">
+      <OrphaCode>684</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=684</ExpertLink>
+      <Name lang="en">Paramyotonia congenita of Von Eulenburg</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10369308[PMID]</SourceOfValidation>
+          <Gene id="15253">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 4</Name>
+            <Symbol>SCN4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HYPP</Synonym>
+              <Synonym lang="en">Nav1.4</Synonym>
+              <Synonym lang="en">SkM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="25633">
+                <Source>Genatlas</Source>
+                <Reference>SCN4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25631">
+                <Source>HGNC</Source>
+                <Reference>10591</Reference>
+              </ExternalReference>
+              <ExternalReference id="82771">
+                <Source>IUPHAR</Source>
+                <Reference>581</Reference>
+              </ExternalReference>
+              <ExternalReference id="25630">
+                <Source>OMIM</Source>
+                <Reference>603967</Reference>
+              </ExternalReference>
+              <ExternalReference id="56757">
+                <Source>Reactome</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="33811">
+                <Source>SwissProt</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="56756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007314</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7067">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="17549">
+      <OrphaCode>163931</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163931</ExpertLink>
+      <Name lang="en">Acrodermatitis continua of Hallopeau</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>23303454[PMID]</SourceOfValidation>
+          <Gene id="20543">
+            <Name lang="en">interleukin 36 receptor antagonist</Name>
+            <Symbol>IL36RN</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">FIL1</Synonym>
+              <Synonym lang="en">FIL1(DELTA)</Synonym>
+              <Synonym lang="en">FIL1D</Synonym>
+              <Synonym lang="en">IL-1 related protein 3</Synonym>
+              <Synonym lang="en">IL-1F5</Synonym>
+              <Synonym lang="en">IL1HY1</Synonym>
+              <Synonym lang="en">IL1L1</Synonym>
+              <Synonym lang="en">IL1RP3</Synonym>
+              <Synonym lang="en">IL36RA</Synonym>
+              <Synonym lang="en">MGC29840</Synonym>
+              <Synonym lang="en">family of interleukin 1-delta</Synonym>
+              <Synonym lang="en">interleukin-1 HY1</Synonym>
+              <Synonym lang="en">interleukin-1 receptor antagonist homolog 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136695</Reference>
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+              <ExternalReference id="54297">
+                <Source>Genatlas</Source>
+                <Reference>IL36RN</Reference>
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+              <ExternalReference id="54295">
+                <Source>HGNC</Source>
+                <Reference>15561</Reference>
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+              <ExternalReference id="54296">
+                <Source>OMIM</Source>
+                <Reference>605507</Reference>
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+              <ExternalReference id="54298">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBH0</Reference>
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+              <ExternalReference id="143523">
+                <Source>Reactome</Source>
+                <Reference>Q9UBH0</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24791904[PMID]</SourceOfValidation>
+          <Gene id="22886">
+            <Name lang="en">adaptor related protein complex 1 subunit sigma 3</Name>
+            <Symbol>AP1S3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">sigma1C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91580">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152056</Reference>
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+              <ExternalReference id="89927">
+                <Source>Genatlas</Source>
+                <Reference>AP1S3</Reference>
+              </ExternalReference>
+              <ExternalReference id="89925">
+                <Source>HGNC</Source>
+                <Reference>18971</Reference>
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+              <ExternalReference id="89926">
+                <Source>OMIM</Source>
+                <Reference>615781</Reference>
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+              <ExternalReference id="91579">
+                <Source>Reactome</Source>
+                <Reference>Q96PC3</Reference>
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+              <ExternalReference id="89928">
+                <Source>SwissProt</Source>
+                <Reference>Q96PC3</Reference>
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+              <Locus id="21801">
+                <GeneLocus>2q36.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17548">
+      <OrphaCode>163927</OrphaCode>
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+      <Name lang="en">Pustulosis palmaris et plantaris</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23303454[PMID]</SourceOfValidation>
+          <Gene id="20543">
+            <Name lang="en">interleukin 36 receptor antagonist</Name>
+            <Symbol>IL36RN</Symbol>
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+              <Synonym lang="en">FIL1</Synonym>
+              <Synonym lang="en">FIL1(DELTA)</Synonym>
+              <Synonym lang="en">FIL1D</Synonym>
+              <Synonym lang="en">IL-1 related protein 3</Synonym>
+              <Synonym lang="en">IL-1F5</Synonym>
+              <Synonym lang="en">IL1HY1</Synonym>
+              <Synonym lang="en">IL1L1</Synonym>
+              <Synonym lang="en">IL1RP3</Synonym>
+              <Synonym lang="en">IL36RA</Synonym>
+              <Synonym lang="en">MGC29840</Synonym>
+              <Synonym lang="en">family of interleukin 1-delta</Synonym>
+              <Synonym lang="en">interleukin-1 HY1</Synonym>
+              <Synonym lang="en">interleukin-1 receptor antagonist homolog 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136695</Reference>
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+              <ExternalReference id="54297">
+                <Source>Genatlas</Source>
+                <Reference>IL36RN</Reference>
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+              <ExternalReference id="54295">
+                <Source>HGNC</Source>
+                <Reference>15561</Reference>
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+              <ExternalReference id="54296">
+                <Source>OMIM</Source>
+                <Reference>605507</Reference>
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+              <ExternalReference id="54298">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBH0</Reference>
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+              <ExternalReference id="143523">
+                <Source>Reactome</Source>
+                <Reference>Q9UBH0</Reference>
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+                <GeneLocus>2q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24791904[PMID]</SourceOfValidation>
+          <Gene id="22886">
+            <Name lang="en">adaptor related protein complex 1 subunit sigma 3</Name>
+            <Symbol>AP1S3</Symbol>
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+              <Synonym lang="en">sigma1C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91580">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152056</Reference>
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+              <ExternalReference id="89927">
+                <Source>Genatlas</Source>
+                <Reference>AP1S3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18971</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615781</Reference>
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+              <ExternalReference id="91579">
+                <Source>Reactome</Source>
+                <Reference>Q96PC3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PC3</Reference>
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+                <GeneLocus>2q36.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17551">
+      <OrphaCode>163937</OrphaCode>
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+      <Name lang="en">X-linked intellectual disability, Najm type</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="17592">
+            <Name lang="en">calcium/calmodulin dependent serine protein kinase</Name>
+            <Symbol>CASK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAGH39</Synonym>
+              <Synonym lang="en">FGS4</Synonym>
+              <Synonym lang="en">LIN2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57955">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147044</Reference>
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+              <ExternalReference id="38688">
+                <Source>Genatlas</Source>
+                <Reference>CASK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1497</Reference>
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+              <ExternalReference id="83107">
+                <Source>IUPHAR</Source>
+                <Reference>1959</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300172</Reference>
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+              <ExternalReference id="82666">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O14936</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="75">
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+      <Name lang="en">Thomsen and Becker disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">chloride voltage-gated channel 1</Name>
+            <Symbol>CLCN1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">ClC-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>698</Reference>
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+              <ExternalReference id="56754">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188037</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2019</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">X-linked dominant chondrodysplasia, Chassaing-Lacombe type</Name>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 90</Synonym>
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+                <Reference>2618</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q9UBN7</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POLA1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09884</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <OrphaCode>163956</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163956</ExpertLink>
+      <Name lang="en">X-linked intellectual disability, Nascimento type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16909393[PMID]</SourceOfValidation>
+          <Gene id="17261">
+            <Name lang="en">ubiquitin conjugating enzyme E2 A</Name>
+            <Symbol>UBE2A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HHR6A</Synonym>
+              <Synonym lang="en">HR6A</Synonym>
+              <Synonym lang="en">RAD6A</Synonym>
+              <Synonym lang="en">UBC2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60115">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077721</Reference>
+              </ExternalReference>
+              <ExternalReference id="36489">
+                <Source>Genatlas</Source>
+                <Reference>UBE2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="36491">
+                <Source>HGNC</Source>
+                <Reference>12472</Reference>
+              </ExternalReference>
+              <ExternalReference id="36490">
+                <Source>OMIM</Source>
+                <Reference>312180</Reference>
+              </ExternalReference>
+              <ExternalReference id="60116">
+                <Source>Reactome</Source>
+                <Reference>P49459</Reference>
+              </ExternalReference>
+              <ExternalReference id="36492">
+                <Source>SwissProt</Source>
+                <Reference>P49459</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9945">
+                <GeneLocus>Xq24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="94">
+      <OrphaCode>324</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324</ExpertLink>
+      <Name lang="en">Fabry disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301469[PMID]</SourceOfValidation>
+          <Gene id="16135">
+            <Name lang="en">galactosidase alpha</Name>
+            <Symbol>GLA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GALA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102393</Reference>
+              </ExternalReference>
+              <ExternalReference id="29878">
+                <Source>Genatlas</Source>
+                <Reference>GLA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29876">
+                <Source>HGNC</Source>
+                <Reference>4296</Reference>
+              </ExternalReference>
+              <ExternalReference id="29875">
+                <Source>OMIM</Source>
+                <Reference>300644</Reference>
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+              <ExternalReference id="56765">
+                <Source>Reactome</Source>
+                <Reference>P06280</Reference>
+              </ExternalReference>
+              <ExternalReference id="33150">
+                <Source>SwissProt</Source>
+                <Reference>P06280</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23141">
+                <GeneLocus>Xq22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17561">
+      <OrphaCode>163985</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163985</ExpertLink>
+      <Name lang="en">Hyperekplexia-epilepsy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301437[PMID]</SourceOfValidation>
+          <Gene id="17607">
+            <Name lang="en">Cdc42 guanine nucleotide exchange factor 9</Name>
+            <Symbol>ARHGEF9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0424</Synonym>
+              <Synonym lang="en">PEM-2</Synonym>
+              <Synonym lang="en">collybistin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60119">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131089</Reference>
+              </ExternalReference>
+              <ExternalReference id="38707">
+                <Source>Genatlas</Source>
+                <Reference>ARHGEF9</Reference>
+              </ExternalReference>
+              <ExternalReference id="38800">
+                <Source>HGNC</Source>
+                <Reference>14561</Reference>
+              </ExternalReference>
+              <ExternalReference id="38709">
+                <Source>OMIM</Source>
+                <Reference>300429</Reference>
+              </ExternalReference>
+              <ExternalReference id="60120">
+                <Source>Reactome</Source>
+                <Reference>O43307</Reference>
+              </ExternalReference>
+              <ExternalReference id="38710">
+                <Source>SwissProt</Source>
+                <Reference>O43307</Reference>
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+            <LocusList count="1">
+              <Locus id="10311">
+                <GeneLocus>Xq11.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="91">
+      <OrphaCode>778</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=778</ExpertLink>
+      <Name lang="en">Rett syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301670[PMID]</SourceOfValidation>
+          <Gene id="16388">
+            <Name lang="en">methyl-CpG binding protein 2</Name>
+            <Symbol>MECP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="31076">
+                <Source>HGNC</Source>
+                <Reference>6990</Reference>
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+              <ExternalReference id="31075">
+                <Source>OMIM</Source>
+                <Reference>300005</Reference>
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+              <ExternalReference id="33452">
+                <Source>SwissProt</Source>
+                <Reference>P51608</Reference>
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+              <ExternalReference id="56763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169057</Reference>
+              </ExternalReference>
+              <ExternalReference id="31074">
+                <Source>Genatlas</Source>
+                <Reference>MECP2</Reference>
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+              <ExternalReference id="143919">
+                <Source>Reactome</Source>
+                <Reference>P51608</Reference>
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="102">
+      <OrphaCode>307</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=307</ExpertLink>
+      <Name lang="en">Juvenile myoclonic epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29539279[PMID]</SourceOfValidation>
+          <Gene id="18454">
+            <Name lang="en">ciliogenesis associated kinase 1</Name>
+            <Symbol>CILK1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA0936</Synonym>
+              <Synonym lang="en">LCK2</Synonym>
+              <Synonym lang="en">MAK-related kinase</Synonym>
+              <Synonym lang="en">MGC46090</Synonym>
+              <Synonym lang="en">MRK</Synonym>
+              <Synonym lang="en">serine/threonine-protein kinase ICK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143002">
+                <Source>Reactome</Source>
+                <Reference>Q9UPZ9</Reference>
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+              <ExternalReference id="42369">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPZ9</Reference>
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+              <ExternalReference id="60290">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112144</Reference>
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+              <ExternalReference id="42366">
+                <Source>Genatlas</Source>
+                <Reference>ICK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21219</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2038</Reference>
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+                <Reference>612325</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23756480[PMID]</SourceOfValidation>
+          <Gene id="15396">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit beta 4</Name>
+            <Symbol>CACNB4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EJM4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>601949</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O00305</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00305</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182389</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23756480[PMID]</SourceOfValidation>
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+            <Name lang="en">EF-hand domain containing 1</Name>
+            <Symbol>EFHC1</Symbol>
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+              <Synonym lang="en">FLJ10466</Synonym>
+              <Synonym lang="en">POC9</Synonym>
+              <Synonym lang="en">RIB72</Synonym>
+              <Synonym lang="en">myoclonin-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56773">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096093</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EFHC1</Reference>
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+                <Reference>16406</Reference>
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+                <Reference>608815</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JVL4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q5JVL4</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23756480[PMID]</SourceOfValidation>
+          <Gene id="16089">
+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit alpha1</Name>
+            <Symbol>GABRA1</Symbol>
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+              <Synonym lang="en">EJM5</Synonym>
+              <Synonym lang="en">GABA(A) receptor, alpha 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P14867</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000022355</Reference>
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+                <Source>Genatlas</Source>
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+          <SourceOfValidation>23756480[PMID]</SourceOfValidation>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit delta</Name>
+            <Symbol>GABRD</Symbol>
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+              <Synonym lang="en">GABA(A) receptor, delta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184156</Reference>
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+                <Reference>562</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>6199</Reference>
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+                <Reference>O75564</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234616</Reference>
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+              <Locus id="39159">
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12612585[PMID]_19191339[PMID]_23756480[PMID]</SourceOfValidation>
+          <Gene id="19025">
+            <Name lang="en">chloride voltage-gated channel 2</Name>
+            <Symbol>CLCN2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CLC2</Synonym>
+              <Synonym lang="en">ClC-2</Synonym>
+              <Synonym lang="en">EJM6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114859</Reference>
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+              <ExternalReference id="44978">
+                <Source>Genatlas</Source>
+                <Reference>CLCN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="44979">
+                <Source>HGNC</Source>
+                <Reference>2020</Reference>
+              </ExternalReference>
+              <ExternalReference id="83170">
+                <Source>IUPHAR</Source>
+                <Reference>699</Reference>
+              </ExternalReference>
+              <ExternalReference id="44980">
+                <Source>OMIM</Source>
+                <Reference>600570</Reference>
+              </ExternalReference>
+              <ExternalReference id="83169">
+                <Source>Reactome</Source>
+                <Reference>P51788</Reference>
+              </ExternalReference>
+              <ExternalReference id="44981">
+                <Source>SwissProt</Source>
+                <Reference>P51788</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11007">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="101">
+      <OrphaCode>1941</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1941</ExpertLink>
+      <Name lang="en">Juvenile absence epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17159113[PMID]</SourceOfValidation>
+          <Gene id="15915">
+            <Name lang="en">EF-hand domain containing 1</Name>
+            <Symbol>EFHC1</Symbol>
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+              <Synonym lang="en">FLJ10466</Synonym>
+              <Synonym lang="en">POC9</Synonym>
+              <Synonym lang="en">RIB72</Synonym>
+              <Synonym lang="en">myoclonin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56773">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096093</Reference>
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+              <ExternalReference id="28790">
+                <Source>Genatlas</Source>
+                <Reference>EFHC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16406</Reference>
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+              <ExternalReference id="28787">
+                <Source>OMIM</Source>
+                <Reference>608815</Reference>
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+              <ExternalReference id="32928">
+                <Source>SwissProt</Source>
+                <Reference>Q5JVL4</Reference>
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+              <ExternalReference id="143280">
+                <Source>Reactome</Source>
+                <Reference>Q5JVL4</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="99">
+      <OrphaCode>892</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=892</ExpertLink>
+      <Name lang="en">Von Hippel-Lindau disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>12097293[PMID]</SourceOfValidation>
+          <Gene id="15408">
+            <Name lang="en">cyclin D1</Name>
+            <Symbol>CCND1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">B-cell CLL/lymphoma 1</Synonym>
+              <Synonym lang="en">G1/S-specific cyclin D1</Synonym>
+              <Synonym lang="en">U21B31</Synonym>
+              <Synonym lang="en">parathyroid adenomatosis 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59114">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110092</Reference>
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+              <ExternalReference id="26376">
+                <Source>Genatlas</Source>
+                <Reference>CCND1</Reference>
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+              <ExternalReference id="26378">
+                <Source>HGNC</Source>
+                <Reference>1582</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59115">
+                <Source>Reactome</Source>
+                <Reference>P24385</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15708">
+            <Name lang="en">von Hippel-Lindau tumor suppressor</Name>
+            <Symbol>VHL</Symbol>
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+              <Synonym lang="en">VHL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56768">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134086</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VHL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12687</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P40337</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Autosomal recessive polycystic kidney disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28530676[PMID]</SourceOfValidation>
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+            <Name lang="en">DAZ interacting zinc finger protein 1 like</Name>
+            <Symbol>DZIP1L</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158163</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IYY4</Reference>
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+                <Reference>617570</Reference>
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+              <ExternalReference id="144832">
+                <Source>Genatlas</Source>
+                <Reference>DZIP1L</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301501[PMID]</SourceOfValidation>
+          <Gene id="15100">
+            <Name lang="en">PKHD1 ciliary IPT domain containing fibrocystin/polyductin</Name>
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+              <Synonym lang="en">ARPKD</Synonym>
+              <Synonym lang="en">FCYT</Synonym>
+              <Synonym lang="en">FPC</Synonym>
+              <Synonym lang="en">fibrocystin</Synonym>
+              <Synonym lang="en">fibrocystin/polyductin complex</Synonym>
+              <Synonym lang="en">polyductin</Synonym>
+              <Synonym lang="en">tigmin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Familial advanced sleep-phase syndrome</Name>
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+            <Symbol>PER3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049246</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141551</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000171316</Reference>
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+              <ExternalReference id="26544">
+                <Source>Genatlas</Source>
+                <Reference>CHD7</Reference>
+              </ExternalReference>
+              <ExternalReference id="26542">
+                <Source>HGNC</Source>
+                <Reference>20626</Reference>
+              </ExternalReference>
+              <ExternalReference id="36813">
+                <Source>OMIM</Source>
+                <Reference>608892</Reference>
+              </ExternalReference>
+              <ExternalReference id="32412">
+                <Source>SwissProt</Source>
+                <Reference>Q9P2D1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7417">
+                <GeneLocus>8q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17579">
+      <OrphaCode>165805</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=165805</ExpertLink>
+      <Name lang="en">Familial mesial temporal lobe epilepsy with febrile seizures</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21922598[PMID]</SourceOfValidation>
+          <Gene id="15792">
+            <Name lang="en">carboxypeptidase A6</Name>
+            <Symbol>CPA6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPAH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32764">
+                <Source>SwissProt</Source>
+                <Reference>Q8N4T0</Reference>
+              </ExternalReference>
+              <ExternalReference id="193622">
+                <Source>IUPHAR</Source>
+                <Reference>1592</Reference>
+              </ExternalReference>
+              <ExternalReference id="57931">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165078</Reference>
+              </ExternalReference>
+              <ExternalReference id="36590">
+                <Source>Genatlas</Source>
+                <Reference>CPA6</Reference>
+              </ExternalReference>
+              <ExternalReference id="28212">
+                <Source>HGNC</Source>
+                <Reference>17245</Reference>
+              </ExternalReference>
+              <ExternalReference id="28211">
+                <Source>OMIM</Source>
+                <Reference>609562</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66653">
+                <GeneLocus>8q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="106">
+      <OrphaCode>803</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=803</ExpertLink>
+      <Name lang="en">Amyotrophic lateral sclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="37">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27080313[PMID]</SourceOfValidation>
+          <Gene id="25283">
+            <Name lang="en">cyclin F</Name>
+            <Symbol>CCNF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FBX1</Synonym>
+              <Synonym lang="en">FBXO1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="138478">
+                <Source>HGNC</Source>
+                <Reference>1591</Reference>
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+              <ExternalReference id="138479">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162063</Reference>
+              </ExternalReference>
+              <ExternalReference id="138480">
+                <Source>OMIM</Source>
+                <Reference>600227</Reference>
+              </ExternalReference>
+              <ExternalReference id="138481">
+                <Source>Genatlas</Source>
+                <Reference>CCNF</Reference>
+              </ExternalReference>
+              <ExternalReference id="138482">
+                <Source>Reactome</Source>
+                <Reference>P41002</Reference>
+              </ExternalReference>
+              <ExternalReference id="143552">
+                <Source>SwissProt</Source>
+                <Reference>P41002</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438137[PMID]</SourceOfValidation>
+          <Gene id="22265">
+            <Name lang="en">TATA-box binding protein associated factor 15</Name>
+            <Symbol>TAF15</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Npl3</Synonym>
+              <Synonym lang="en">RBP56</Synonym>
+              <Synonym lang="en">hTAFII68</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="81220">
+                <Source>Genatlas</Source>
+                <Reference>TAF15</Reference>
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+              <ExternalReference id="81218">
+                <Source>HGNC</Source>
+                <Reference>11547</Reference>
+              </ExternalReference>
+              <ExternalReference id="81219">
+                <Source>OMIM</Source>
+                <Reference>601574</Reference>
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+              <ExternalReference id="81221">
+                <Source>SwissProt</Source>
+                <Reference>Q92804</Reference>
+              </ExternalReference>
+              <ExternalReference id="91947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000270647</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92804</Reference>
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+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22922411[PMID]</SourceOfValidation>
+          <Gene id="23741">
+            <Name lang="en">EPH receptor A4</Name>
+            <Symbol>EPHA4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hek8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>HGNC</Source>
+                <Reference>3388</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602188</Reference>
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+              <ExternalReference id="101147">
+                <Source>Genatlas</Source>
+                <Reference>EPHA4</Reference>
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+              <ExternalReference id="101148">
+                <Source>SwissProt</Source>
+                <Reference>P54764</Reference>
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+              <ExternalReference id="101149">
+                <Source>Reactome</Source>
+                <Reference>P54764</Reference>
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+              <ExternalReference id="101150">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116106</Reference>
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+                <Source>IUPHAR</Source>
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+                <GeneLocus>2q36.1</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28469040[PMID]</SourceOfValidation>
+          <Gene id="25464">
+            <Name lang="en">annexin A11</Name>
+            <Symbol>ANXA11</Symbol>
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+              <Synonym lang="en">annexin XI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122359</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50995</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602572</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>P50995</Reference>
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+                <Source>HGNC</Source>
+                <Reference>535</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="24382">
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+              <Synonym lang="en">YF5</Synonym>
+              <Synonym lang="en">leucine rich repeat containing 76</Synonym>
+              <Synonym lang="en">nuclear encoded mitochondrial protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O43822</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160226</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">GLE1 RNA export mediator</Name>
+            <Symbol>GLE1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">NIMA related kinase 1</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">glycosyltransferase 8 domain containing 1</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000016864</Reference>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000250479</Reference>
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+          <SourceOfValidation>24085347[PMID]_20368421[PMID]</SourceOfValidation>
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+            <Name lang="en">D-amino acid oxidase</Name>
+            <Symbol>DAO</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>24085347[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143109">
+                <Source>Reactome</Source>
+                <Reference>Q99700</Reference>
+              </ExternalReference>
+              <ExternalReference id="56789">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204842</Reference>
+              </ExternalReference>
+              <ExternalReference id="26039">
+                <Source>Genatlas</Source>
+                <Reference>ATXN2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10555</Reference>
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+              <ExternalReference id="26040">
+                <Source>OMIM</Source>
+                <Reference>601517</Reference>
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+              <ExternalReference id="33895">
+                <Source>SwissProt</Source>
+                <Reference>Q99700</Reference>
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+                <GeneLocus>12q24.12</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20352044[PMID]_23155438[PMID]_16807408[PMID]</SourceOfValidation>
+          <Gene id="15446">
+            <Name lang="en">charged multivesicular body protein 2B</Name>
+            <Symbol>CHMP2B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CHMP2.5</Synonym>
+              <Synonym lang="en">DKFZP564O123</Synonym>
+              <Synonym lang="en">VPS2 homolog B (S. cerevisiae)</Synonym>
+              <Synonym lang="en">VPS2B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58549">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083937</Reference>
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+              <ExternalReference id="26556">
+                <Source>Genatlas</Source>
+                <Reference>CHMP2B</Reference>
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+              <ExternalReference id="26558">
+                <Source>HGNC</Source>
+                <Reference>24537</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609512</Reference>
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+              <ExternalReference id="58550">
+                <Source>Reactome</Source>
+                <Reference>Q9UQN3</Reference>
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+                <Reference>Q9UQN3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301623[PMID]_23941283[PMID]</SourceOfValidation>
+          <Gene id="15536">
+            <Name lang="en">superoxide dismutase 1</Name>
+            <Symbol>SOD1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IPOA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56808">
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+                <Reference>ENSG00000142168</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SOD1</Reference>
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+                <Reference>11179</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00441</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00441</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24535663[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
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+              <ExternalReference id="37386">
+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17761</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605086</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZC2</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301623[PMID]_23941283[PMID]</SourceOfValidation>
+          <Gene id="15704">
+            <Name lang="en">VAMP associated protein B and C</Name>
+            <Symbol>VAPB</Symbol>
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+              <Synonym lang="en">ALS8</Synonym>
+              <Synonym lang="en">VAP-B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124164</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12649</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605704</Reference>
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+              <ExternalReference id="56813">
+                <Source>Reactome</Source>
+                <Reference>O95292</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95292</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24085347[PMID]</SourceOfValidation>
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+              <Synonym lang="en">IBMPFD</Synonym>
+              <Synonym lang="en">TERA</Synonym>
+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165280</Reference>
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+              <ExternalReference id="87972">
+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+          <Gene id="16595">
+            <Name lang="en">optineurin</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">FIG4 phosphoinositide 5-phosphatase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Symbol>ANG</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24119685[PMID]</SourceOfValidation>
+          <Gene id="22474">
+            <Name lang="en">erb-b2 receptor tyrosine kinase 4</Name>
+            <Symbol>ERBB4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ALS19</Synonym>
+              <Synonym lang="en">HER4</Synonym>
+              <Synonym lang="en">human epidermal growth factor receptor 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000178568</Reference>
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+            <Name lang="en">unc-13 homolog A</Name>
+            <Symbol>UNC13A</Symbol>
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+              <Synonym lang="en">Munc13-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=802</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Multiple sclerosis</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">TNF receptor superfamily member 1A</Name>
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+            <SynonymList count="6">
+              <Synonym lang="en">CD120a</Synonym>
+              <Synonym lang="en">TNF-R</Synonym>
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+              <Synonym lang="en">TNF-R55</Synonym>
+              <Synonym lang="en">TNFAR</Synonym>
+              <Synonym lang="en">TNFR60</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067182</Reference>
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+                <Reference>P11169</Reference>
+              </ExternalReference>
+              <ExternalReference id="91510">
+                <Source>SwissProt</Source>
+                <Reference>P11169</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60601">
+                <GeneLocus>12p13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="117">
+      <OrphaCode>501</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=501</ExpertLink>
+      <Name lang="en">Lafora disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301563[PMID]_22047982[PMID]_22669944[PMID]</SourceOfValidation>
+          <Gene id="15986">
+            <Name lang="en">EPM2A glucan phosphatase, laforin</Name>
+            <Symbol>EPM2A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LD</Synonym>
+              <Synonym lang="en">LDE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32998">
+                <Source>SwissProt</Source>
+                <Reference>O95278</Reference>
+              </ExternalReference>
+              <ExternalReference id="56829">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112425</Reference>
+              </ExternalReference>
+              <ExternalReference id="29125">
+                <Source>Genatlas</Source>
+                <Reference>EPM2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="29123">
+                <Source>HGNC</Source>
+                <Reference>3413</Reference>
+              </ExternalReference>
+              <ExternalReference id="29122">
+                <Source>OMIM</Source>
+                <Reference>607566</Reference>
+              </ExternalReference>
+              <ExternalReference id="91586">
+                <Source>Reactome</Source>
+                <Reference>O95278</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301563[PMID]_22047982[PMID]_22669944[PMID]</SourceOfValidation>
+          <Gene id="16545">
+            <Name lang="en">NHL repeat containing E3 ubiquitin protein ligase 1</Name>
+            <Symbol>NHLRC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EPM2B</Synonym>
+              <Synonym lang="en">bA204B7.2</Synonym>
+              <Synonym lang="en">epilepsy, progressive myoclonus type 2B</Synonym>
+              <Synonym lang="en">malin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56830">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187566</Reference>
+              </ExternalReference>
+              <ExternalReference id="37545">
+                <Source>Genatlas</Source>
+                <Reference>NHLRC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31801">
+                <Source>HGNC</Source>
+                <Reference>21576</Reference>
+              </ExternalReference>
+              <ExternalReference id="31800">
+                <Source>OMIM</Source>
+                <Reference>608072</Reference>
+              </ExternalReference>
+              <ExternalReference id="83010">
+                <Source>Reactome</Source>
+                <Reference>Q6VVB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="33610">
+                <Source>SwissProt</Source>
+                <Reference>Q6VVB1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17598">
+      <OrphaCode>166011</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166011</ExpertLink>
+      <Name lang="en">Multiple epiphyseal dysplasia, Beighton type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9800905[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
+              </ExternalReference>
+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23227">
+                <GeneLocus>12q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="126">
+      <OrphaCode>567</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=567</ExpertLink>
+      <Name lang="en">22q11.2 deletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14585638[PMID]</SourceOfValidation>
+          <Gene id="15584">
+            <Name lang="en">T-box transcription factor 1</Name>
+            <Symbol>TBX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CATCH22</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56853">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184058</Reference>
+              </ExternalReference>
+              <ExternalReference id="27227">
+                <Source>Genatlas</Source>
+                <Reference>TBX1</Reference>
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+              <ExternalReference id="27229">
+                <Source>HGNC</Source>
+                <Reference>11592</Reference>
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+              <ExternalReference id="27228">
+                <Source>OMIM</Source>
+                <Reference>602054</Reference>
+              </ExternalReference>
+              <ExternalReference id="32555">
+                <Source>SwissProt</Source>
+                <Reference>O43435</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7685">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15584">
+            <Name lang="en">T-box transcription factor 1</Name>
+            <Symbol>TBX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CATCH22</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56853">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184058</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TBX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11592</Reference>
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+              <ExternalReference id="27228">
+                <Source>OMIM</Source>
+                <Reference>602054</Reference>
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+              <ExternalReference id="32555">
+                <Source>SwissProt</Source>
+                <Reference>O43435</Reference>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15954">
+            <Name lang="en">ARVCF delta catenin family member</Name>
+            <Symbol>ARVCF</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56847">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099889</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>728</Reference>
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+              <ExternalReference id="28968">
+                <Source>OMIM</Source>
+                <Reference>602269</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00192</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16158">
+            <Name lang="en">glycoprotein Ib platelet subunit beta</Name>
+            <Symbol>GP1BB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD42c</Synonym>
+              <Synonym lang="en">GPIbbeta</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib beta chain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203618</Reference>
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+                <Reference>GP1BB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4440</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P13224</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070010</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UFD1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12520</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q92890</Reference>
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+                <Reference>Q92890</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">histone cell cycle regulator</Name>
+            <Symbol>HIRA</Symbol>
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+              <Synonym lang="en">DiGeorge critical region gene 1</Synonym>
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+              <Synonym lang="en">histone regulator A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56850">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100084</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HIRA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4916</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600237</Reference>
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+              <ExternalReference id="83229">
+                <Source>Reactome</Source>
+                <Reference>P54198</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P54198</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83185">
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P21964</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21964</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000093010</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26608785[PMID]</SourceOfValidation>
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+            <Name lang="en">jumonji domain containing 1C</Name>
+            <Symbol>JMJD1C</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="94475">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171988</Reference>
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+              <ExternalReference id="94473">
+                <Source>Genatlas</Source>
+                <Reference>JMJD1C</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12313</Reference>
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+              <ExternalReference id="94472">
+                <Source>OMIM</Source>
+                <Reference>604503</Reference>
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+              <ExternalReference id="94624">
+                <Source>Reactome</Source>
+                <Reference>Q15652</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15652</Reference>
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+              <ExternalReference id="190603">
+                <Source>IUPHAR</Source>
+                <Reference>2663</Reference>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="23746">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>RREB1</Reference>
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+              <ExternalReference id="101198">
+                <Source>SwissProt</Source>
+                <Reference>Q92766</Reference>
+              </ExternalReference>
+              <ExternalReference id="101199">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124782</Reference>
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+              <ExternalReference id="101195">
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+                <Reference>10449</Reference>
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+              <ExternalReference id="143445">
+                <Source>Reactome</Source>
+                <Reference>Q92766</Reference>
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+          </Gene>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26608785[PMID]</SourceOfValidation>
+          <Gene id="23747">
+            <Name lang="en">SEC24 homolog C, COPII coat complex component</Name>
+            <Symbol>SEC24C</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0079</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P53992</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P53992</Reference>
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+              <ExternalReference id="101206">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176986</Reference>
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+              <ExternalReference id="101201">
+                <Source>HGNC</Source>
+                <Reference>10705</Reference>
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+              <ExternalReference id="101202">
+                <Source>OMIM</Source>
+                <Reference>607185</Reference>
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+              <ExternalReference id="101203">
+                <Source>Genatlas</Source>
+                <Reference>SEC24C</Reference>
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+                <GeneLocus>10q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="125">
+      <OrphaCode>232</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=232</ExpertLink>
+      <Name lang="en">Sickle cell anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301551[PMID]_24361300[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
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+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+                <GeneLocus>11p15.4</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="124">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=536</ExpertLink>
+      <Name lang="en">Systemic lupus erythematosus</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="29">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22592861[PMID]</SourceOfValidation>
+          <Gene id="22392">
+            <Name lang="en">PX domain containing serine/threonine kinase like</Name>
+            <Symbol>PXK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20335</Synonym>
+              <Synonym lang="en">Slob</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84004">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168297</Reference>
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+              <ExternalReference id="81754">
+                <Source>Genatlas</Source>
+                <Reference>PXK</Reference>
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+              <ExternalReference id="81752">
+                <Source>HGNC</Source>
+                <Reference>23326</Reference>
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+              <ExternalReference id="84005">
+                <Source>IUPHAR</Source>
+                <Reference>2183</Reference>
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+              <ExternalReference id="81753">
+                <Source>OMIM</Source>
+                <Reference>611450</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z7A4</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30287618[PMID]</SourceOfValidation>
+          <Gene id="16246">
+            <Name lang="en">immunoglobulin heavy constant gamma 1 (G1m marker)</Name>
+            <Symbol>IGHG1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59193">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000211896</Reference>
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+              <ExternalReference id="30408">
+                <Source>Genatlas</Source>
+                <Reference>IGHG1</Reference>
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+              <ExternalReference id="30406">
+                <Source>HGNC</Source>
+                <Reference>5525</Reference>
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+                <Source>OMIM</Source>
+                <Reference>147100</Reference>
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+              <ExternalReference id="59194">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01857</Reference>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23922195[PMID]</SourceOfValidation>
+          <Gene id="15818">
+            <Name lang="en">cytotoxic T-lymphocyte associated protein 4</Name>
+            <Symbol>CTLA4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163599</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17660818[PMID]_23732569[PMID]</SourceOfValidation>
+          <Gene id="15656">
+            <Name lang="en">three prime repair exonuclease 1</Name>
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+              <Synonym lang="en">DRN3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9NSU2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NSU2</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">interleukin 10</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244731</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P0C0L4</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>3265961[PMID]_22654485[PMID]_23914156[PMID]_10092831[PMID]_17503323[PMID]_15998580[PMID]_12133986[PMID]</SourceOfValidation>
+          <Gene id="17448">
+            <Name lang="en">complement C4B (Chido blood group)</Name>
+            <Symbol>C4B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">C4B1</Synonym>
+              <Synonym lang="en">C4B3</Synonym>
+              <Synonym lang="en">C4F</Synonym>
+              <Synonym lang="en">CH</Synonym>
+              <Synonym lang="en">CO4</Synonym>
+              <Synonym lang="en">CPAMD3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="38122">
+                <Source>OMIM</Source>
+                <Reference>120820</Reference>
+              </ExternalReference>
+              <ExternalReference id="60188">
+                <Source>Reactome</Source>
+                <Reference>P0C0L5</Reference>
+              </ExternalReference>
+              <ExternalReference id="38124">
+                <Source>SwissProt</Source>
+                <Reference>P0C0L5</Reference>
+              </ExternalReference>
+              <ExternalReference id="60187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000224389</Reference>
+              </ExternalReference>
+              <ExternalReference id="38121">
+                <Source>Genatlas</Source>
+                <Reference>C4B</Reference>
+              </ExternalReference>
+              <ExternalReference id="38123">
+                <Source>HGNC</Source>
+                <Reference>1324</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21733">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17360460[PMID]_22673213[PMID]</SourceOfValidation>
+          <Gene id="17458">
+            <Name lang="en">complement C3d receptor 2</Name>
+            <Symbol>CR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C3DR</Synonym>
+              <Synonym lang="en">CD21</Synonym>
+              <Synonym lang="en">Epstein-Barr virus receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56842">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117322</Reference>
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+              <ExternalReference id="38171">
+                <Source>Genatlas</Source>
+                <Reference>CR2</Reference>
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+              <ExternalReference id="38172">
+                <Source>HGNC</Source>
+                <Reference>2336</Reference>
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+              <ExternalReference id="38174">
+                <Source>OMIM</Source>
+                <Reference>120650</Reference>
+              </ExternalReference>
+              <ExternalReference id="38173">
+                <Source>SwissProt</Source>
+                <Reference>P20023</Reference>
+              </ExternalReference>
+              <ExternalReference id="143422">
+                <Source>Reactome</Source>
+                <Reference>P20023</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23917156[PMID]_23943494[PMID]_18204098[PMID]_22696686[PMID]_22654485[PMID]_24091983[PMID]</SourceOfValidation>
+          <Gene id="19048">
+            <Name lang="en">BLK proto-oncogene, Src family tyrosine kinase</Name>
+            <Symbol>BLK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC10442</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58789">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136573</Reference>
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+              <ExternalReference id="45360">
+                <Source>Genatlas</Source>
+                <Reference>BLK</Reference>
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+              <ExternalReference id="45361">
+                <Source>HGNC</Source>
+                <Reference>1057</Reference>
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+              <ExternalReference id="83175">
+                <Source>IUPHAR</Source>
+                <Reference>1940</Reference>
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+              <ExternalReference id="45362">
+                <Source>OMIM</Source>
+                <Reference>191305</Reference>
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+              <ExternalReference id="58790">
+                <Source>Reactome</Source>
+                <Reference>P51451</Reference>
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+              <ExternalReference id="45363">
+                <Source>SwissProt</Source>
+                <Reference>P51451</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15657875[PMID]_23943494[PMID]_23917156[PMID]_22654485[PMID]</SourceOfValidation>
+          <Gene id="19316">
+            <Name lang="en">interferon regulatory factor 5</Name>
+            <Symbol>IRF5</Symbol>
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+              <Synonym lang="en">IRF-5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57743">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128604</Reference>
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+              <ExternalReference id="47729">
+                <Source>Genatlas</Source>
+                <Reference>IRF5</Reference>
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+              <ExternalReference id="47730">
+                <Source>HGNC</Source>
+                <Reference>6120</Reference>
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+              <ExternalReference id="47732">
+                <Source>OMIM</Source>
+                <Reference>607218</Reference>
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+              <ExternalReference id="57744">
+                <Source>Reactome</Source>
+                <Reference>Q13568</Reference>
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+              <ExternalReference id="47731">
+                <Source>SwissProt</Source>
+                <Reference>Q13568</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12402038[PMID]</SourceOfValidation>
+          <Gene id="19507">
+            <Name lang="en">programmed cell death 1</Name>
+            <Symbol>PDCD1</Symbol>
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+              <Synonym lang="en">CD279</Synonym>
+              <Synonym lang="en">PD-1</Synonym>
+              <Synonym lang="en">PD1</Synonym>
+              <Synonym lang="en">hSLE1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188389</Reference>
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+              <ExternalReference id="49961">
+                <Source>Genatlas</Source>
+                <Reference>PDCD1</Reference>
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+              <ExternalReference id="49962">
+                <Source>HGNC</Source>
+                <Reference>8760</Reference>
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+              <ExternalReference id="87996">
+                <Source>IUPHAR</Source>
+                <Reference>2760</Reference>
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+              <ExternalReference id="49963">
+                <Source>OMIM</Source>
+                <Reference>600244</Reference>
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+              <ExternalReference id="56821">
+                <Source>Reactome</Source>
+                <Reference>Q15116</Reference>
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+              <ExternalReference id="49964">
+                <Source>SwissProt</Source>
+                <Reference>Q15116</Reference>
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+                <GeneLocus>2q37.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15273934[PMID]_19838195[PMID]_23966601[PMID]_23950893[PMID]_23943494[PMID]_22654485[PMID]</SourceOfValidation>
+          <Gene id="21583">
+            <Name lang="en">protein tyrosine phosphatase non-receptor type 22</Name>
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+              <Synonym lang="en">Lyp</Synonym>
+              <Synonym lang="en">Lyp1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000134242</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9652</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2R2</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2R2</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000072694</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">deoxyribonuclease 1</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">KIAA0319 like</Name>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19838195[PMID]</SourceOfValidation>
+          <Gene id="22393">
+            <Name lang="en">JAZF zinc finger 1</Name>
+            <Symbol>JAZF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp761K2222</Synonym>
+              <Synonym lang="en">TIP27</Synonym>
+              <Synonym lang="en">ZNF802</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="81757">
+                <Source>HGNC</Source>
+                <Reference>28917</Reference>
+              </ExternalReference>
+              <ExternalReference id="81758">
+                <Source>OMIM</Source>
+                <Reference>606246</Reference>
+              </ExternalReference>
+              <ExternalReference id="81760">
+                <Source>SwissProt</Source>
+                <Reference>Q86VZ6</Reference>
+              </ExternalReference>
+              <ExternalReference id="84006">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153814</Reference>
+              </ExternalReference>
+              <ExternalReference id="81759">
+                <Source>Genatlas</Source>
+                <Reference>JAZF1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12813">
+                <GeneLocus>7p15.2-p15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23917156[PMID]_23858047[PMID]_22833143[PMID]_22087647[PMID]_19838195[PMID]_22654485[PMID]</SourceOfValidation>
+          <Gene id="22422">
+            <Name lang="en">TNFAIP3 interacting protein 1</Name>
+            <Symbol>TNIP1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABIN-1</Synonym>
+              <Synonym lang="en">KIAA0113</Synonym>
+              <Synonym lang="en">NAF1</Synonym>
+              <Synonym lang="en">Nef-associated factor 1 SNP</Synonym>
+              <Synonym lang="en">VAN</Synonym>
+              <Synonym lang="en">virion-associated nuclear-shuttling protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126429">
+                <Source>Reactome</Source>
+                <Reference>Q15025</Reference>
+              </ExternalReference>
+              <ExternalReference id="84049">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82265">
+                <Source>Genatlas</Source>
+                <Reference>TNIP1</Reference>
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+              <ExternalReference id="82262">
+                <Source>HGNC</Source>
+                <Reference>16903</Reference>
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+              <ExternalReference id="82263">
+                <Source>OMIM</Source>
+                <Reference>607714</Reference>
+              </ExternalReference>
+              <ExternalReference id="82264">
+                <Source>SwissProt</Source>
+                <Reference>Q15025</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26841">
+                <GeneLocus>5q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23943494[PMID]_21336280[PMID]_20617138[PMID]_24039598[PMID]_24091983[PMID]_22654485[PMID]</SourceOfValidation>
+          <Gene id="22423">
+            <Name lang="en">TNF alpha induced protein 3</Name>
+            <Symbol>TNFAIP3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">A20</Synonym>
+              <Synonym lang="en">OTUD7C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82270">
+                <Source>SwissProt</Source>
+                <Reference>P21580</Reference>
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+              <ExternalReference id="84051">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118503</Reference>
+              </ExternalReference>
+              <ExternalReference id="82269">
+                <Source>Genatlas</Source>
+                <Reference>TNFAIP3</Reference>
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+              <ExternalReference id="82267">
+                <Source>HGNC</Source>
+                <Reference>11896</Reference>
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+              <ExternalReference id="82268">
+                <Source>OMIM</Source>
+                <Reference>191163</Reference>
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+              <ExternalReference id="84050">
+                <Source>Reactome</Source>
+                <Reference>P21580</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="25919">
+                <GeneLocus>6q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23917156[PMID]_22045845[PMID]_22476155[PMID]_24091983[PMID]_23943494[PMID]</SourceOfValidation>
+          <Gene id="22424">
+            <Name lang="en">ubiquitin conjugating enzyme E2 L3</Name>
+            <Symbol>UBE2L3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">UBCH7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84053">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185651</Reference>
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+              <ExternalReference id="82275">
+                <Source>Genatlas</Source>
+                <Reference>UBE2L3</Reference>
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+              <ExternalReference id="82272">
+                <Source>HGNC</Source>
+                <Reference>12488</Reference>
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+              <ExternalReference id="82273">
+                <Source>OMIM</Source>
+                <Reference>603721</Reference>
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+              <ExternalReference id="84052">
+                <Source>Reactome</Source>
+                <Reference>P68036</Reference>
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+              <ExternalReference id="82274">
+                <Source>SwissProt</Source>
+                <Reference>P68036</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22025">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24091983[PMID]_22850862[PMID]_22820624[PMID]_21905002[PMID]_23943494[PMID]_19838193[PMID]_22654485[PMID]</SourceOfValidation>
+          <Gene id="22425">
+            <Name lang="en">TNF superfamily member 4</Name>
+            <Symbol>TNFSF4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD252</Synonym>
+              <Synonym lang="en">OX-40L</Synonym>
+              <Synonym lang="en">gp34</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84054">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117586</Reference>
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+              <ExternalReference id="82279">
+                <Source>Genatlas</Source>
+                <Reference>TNFSF4</Reference>
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+              <ExternalReference id="82277">
+                <Source>HGNC</Source>
+                <Reference>11934</Reference>
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+              <ExternalReference id="82278">
+                <Source>OMIM</Source>
+                <Reference>603594</Reference>
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+              <ExternalReference id="97355">
+                <Source>Reactome</Source>
+                <Reference>P23510</Reference>
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+              <ExternalReference id="82280">
+                <Source>SwissProt</Source>
+                <Reference>P23510</Reference>
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+            <LocusList count="1">
+              <Locus id="24049">
+                <GeneLocus>1q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19440199[PMID]_11933203[PMID]_24023622[PMID]_18335026[PMID]_15692970[PMID]</SourceOfValidation>
+          <Gene id="22426">
+            <Name lang="en">secreted phosphoprotein 1</Name>
+            <Symbol>SPP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BSPI</Synonym>
+              <Synonym lang="en">ETA-1</Synonym>
+              <Synonym lang="en">Early T-lymphocyte activation 1</Synonym>
+              <Synonym lang="en">early T-lymphocyte activation 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118785</Reference>
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+              <ExternalReference id="82284">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="82282">
+                <Source>HGNC</Source>
+                <Reference>11255</Reference>
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+              <ExternalReference id="82283">
+                <Source>OMIM</Source>
+                <Reference>166490</Reference>
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+              <ExternalReference id="84055">
+                <Source>Reactome</Source>
+                <Reference>P10451</Reference>
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+              <ExternalReference id="82285">
+                <Source>SwissProt</Source>
+                <Reference>P10451</Reference>
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+            <LocusList count="1">
+              <Locus id="12875">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23435933[PMID]_22904263[PMID]_18050247[PMID]_19440199[PMID]_22654485[PMID]_23943494[PMID]</SourceOfValidation>
+          <Gene id="22427">
+            <Name lang="en">interleukin 1 receptor associated kinase 1</Name>
+            <Symbol>IRAK1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">IRAK</Synonym>
+              <Synonym lang="en">pelle</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82289">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6112</Reference>
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+              <ExternalReference id="84059">
+                <Source>IUPHAR</Source>
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+              <ExternalReference id="82288">
+                <Source>OMIM</Source>
+                <Reference>300283</Reference>
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+              <ExternalReference id="84057">
+                <Source>Reactome</Source>
+                <Reference>P51617</Reference>
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+              <ExternalReference id="82290">
+                <Source>SwissProt</Source>
+                <Reference>P51617</Reference>
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+              <ExternalReference id="84058">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184216</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23236436[PMID]_22087647[PMID]</SourceOfValidation>
+          <Gene id="22428">
+            <Name lang="en">ETS proto-oncogene 1, transcription factor</Name>
+            <Symbol>ETS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1</Synonym>
+              <Synonym lang="en">ETS-1</Synonym>
+              <Synonym lang="en">FLJ10768</Synonym>
+              <Synonym lang="en">ets protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84061">
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+                <Reference>ENSG00000134954</Reference>
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+              <ExternalReference id="82294">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>164720</Reference>
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+              <ExternalReference id="84060">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P14921</Reference>
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+                <GeneLocus>11q24.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <OrphaCode>166002</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=166002</ExpertLink>
+      <Name lang="en">Multiple epiphyseal dysplasia due to collagen 9 anomaly</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301302[PMID]</SourceOfValidation>
+          <Gene id="15783">
+            <Name lang="en">collagen type IX alpha 1 chain</Name>
+            <Symbol>COL9A1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112280</Reference>
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+              <ExternalReference id="28169">
+                <Source>Genatlas</Source>
+                <Reference>COL9A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2217</Reference>
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+              <ExternalReference id="28166">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P20849</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301302[PMID]</SourceOfValidation>
+          <Gene id="15784">
+            <Name lang="en">collagen type IX alpha 2 chain</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">MED</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049089</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL9A2</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14055</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14055</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301302[PMID]</SourceOfValidation>
+          <Gene id="15785">
+            <Name lang="en">collagen type IX alpha 3 chain</Name>
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+            <SynonymList count="6">
+              <Synonym lang="en">DJ885L7.4.1</Synonym>
+              <Synonym lang="en">EDM3</Synonym>
+              <Synonym lang="en">FLJ90759</Synonym>
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+              <Synonym lang="en">collagen type IX proteoglycan</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092758</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2219</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120270</Reference>
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+              <ExternalReference id="60132">
+                <Source>Reactome</Source>
+                <Reference>Q14050</Reference>
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+              <ExternalReference id="32757">
+                <Source>SwissProt</Source>
+                <Reference>Q14050</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="123">
+      <OrphaCode>534</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=534</ExpertLink>
+      <Name lang="en">Oculocerebrorenal syndrome of Lowe</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301653[PMID]</SourceOfValidation>
+          <Gene id="16585">
+            <Name lang="en">OCRL inositol polyphosphate-5-phosphatase</Name>
+            <Symbol>OCRL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Dent disease 2</Synonym>
+              <Synonym lang="en">Dent-2</Synonym>
+              <Synonym lang="en">OCRL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122126</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>OCRL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8108</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300535</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q01968</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01968</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=165991</ExpertLink>
+      <Name lang="en">Exercise-induced hyperinsulinism</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 16 member 1</Name>
+            <Symbol>SLC16A1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Multiple endocrine neoplasia type 1</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cyclin dependent kinase inhibitor 1B</Name>
+            <Symbol>CDKN1B</Symbol>
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+              <Synonym lang="en">P27KIP1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P46527</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111276</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="56899">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102104</Reference>
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+              <ExternalReference id="25531">
+                <Source>Genatlas</Source>
+                <Reference>RS1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10457</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300839</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15537</Reference>
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+                <GeneLocus>Xp22.13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="158">
+      <OrphaCode>827</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=827</ExpertLink>
+      <Name lang="en">Stargardt disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15712225[PMID]</SourceOfValidation>
+          <Gene id="15759">
+            <Name lang="en">cyclic nucleotide gated channel subunit beta 3</Name>
+            <Symbol>CNGB3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170289</Reference>
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+              <ExternalReference id="28050">
+                <Source>Genatlas</Source>
+                <Reference>CNGB3</Reference>
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+              <ExternalReference id="28052">
+                <Source>HGNC</Source>
+                <Reference>2153</Reference>
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+              <ExternalReference id="82860">
+                <Source>IUPHAR</Source>
+                <Reference>399</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605080</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQW8</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15152">
+            <Name lang="en">peripherin 2</Name>
+            <Symbol>PRPH2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CACD2</Synonym>
+              <Synonym lang="en">TSPAN22</Synonym>
+              <Synonym lang="en">rd2</Synonym>
+              <Synonym lang="en">retinal peripherin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57556">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112619</Reference>
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+              <ExternalReference id="36703">
+                <Source>Genatlas</Source>
+                <Reference>PRPH2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9942</Reference>
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+              <ExternalReference id="25157">
+                <Source>OMIM</Source>
+                <Reference>179605</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P23942</Reference>
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+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20633576[PMID]</SourceOfValidation>
+          <Gene id="15050">
+            <Name lang="en">ATP binding cassette subfamily A member 4</Name>
+            <Symbol>ABCA4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARMD2</Synonym>
+              <Synonym lang="en">CORD3</Synonym>
+              <Synonym lang="en">FFM</Synonym>
+              <Synonym lang="en">Stargardt disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193564">
+                <Source>IUPHAR</Source>
+                <Reference>759</Reference>
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+              <ExternalReference id="56901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198691</Reference>
+              </ExternalReference>
+              <ExternalReference id="24660">
+                <Source>Genatlas</Source>
+                <Reference>ABCA4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>34</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601691</Reference>
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+              <ExternalReference id="56902">
+                <Source>Reactome</Source>
+                <Reference>P78363</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P78363</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20633576[PMID]</SourceOfValidation>
+          <Gene id="15972">
+            <Name lang="en">ELOVL fatty acid elongase 4</Name>
+            <Symbol>ELOVL4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT118</Synonym>
+              <Synonym lang="en">cancer/testis antigen 118</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56903">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118402</Reference>
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+              <ExternalReference id="29058">
+                <Source>Genatlas</Source>
+                <Reference>ELOVL4</Reference>
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+              <ExternalReference id="29060">
+                <Source>HGNC</Source>
+                <Reference>14415</Reference>
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+              <ExternalReference id="29059">
+                <Source>OMIM</Source>
+                <Reference>605512</Reference>
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+              <ExternalReference id="56904">
+                <Source>Reactome</Source>
+                <Reference>Q9GZR5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9GZR5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18654668[PMID]</SourceOfValidation>
+          <Gene id="17406">
+            <Name lang="en">prominin 1</Name>
+            <Symbol>PROM1</Symbol>
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+              <Synonym lang="en">AC133</Synonym>
+              <Synonym lang="en">CD133</Synonym>
+              <Synonym lang="en">CORD12</Synonym>
+              <Synonym lang="en">RP41</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007062</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PROM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9454</Reference>
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+              <ExternalReference id="37308">
+                <Source>OMIM</Source>
+                <Reference>604365</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <Gene id="15715">
+            <Name lang="en">WASP actin nucleation promoting factor</Name>
+            <Symbol>WAS</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">WASPA</Synonym>
+              <Synonym lang="en">eczema-thrombocytopenia</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56864">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000015285</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">syntaxin 1A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">transducin beta like 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">PPIase</Synonym>
+              <Synonym lang="en">immunophilin FKBP36</Synonym>
+              <Synonym lang="en">peptidylprolyl cis-trans isomerase</Synonym>
+              <Synonym lang="en">rotamase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="193463">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077800</Reference>
+              </ExternalReference>
+              <ExternalReference id="201572">
+                <Source>SwissProt</Source>
+                <Reference>O75344</Reference>
+              </ExternalReference>
+              <ExternalReference id="189487">
+                <Source>HGNC</Source>
+                <Reference>3722</Reference>
+              </ExternalReference>
+              <ExternalReference id="193464">
+                <Source>OMIM</Source>
+                <Reference>604839</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="82119">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="15201">
+            <Name lang="en">replication factor C subunit 2</Name>
+            <Symbol>RFC2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">A1</Synonym>
+              <Synonym lang="en">RFC40</Synonym>
+              <Synonym lang="en">activator 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="37329">
+                <Source>Genatlas</Source>
+                <Reference>RFC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25390">
+                <Source>HGNC</Source>
+                <Reference>9970</Reference>
+              </ExternalReference>
+              <ExternalReference id="25389">
+                <Source>OMIM</Source>
+                <Reference>600404</Reference>
+              </ExternalReference>
+              <ExternalReference id="56883">
+                <Source>Reactome</Source>
+                <Reference>P35250</Reference>
+              </ExternalReference>
+              <ExternalReference id="33759">
+                <Source>SwissProt</Source>
+                <Reference>P35250</Reference>
+              </ExternalReference>
+              <ExternalReference id="56882">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049541</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6963">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9311751[PMID]</SourceOfValidation>
+          <Gene id="16519">
+            <Name lang="en">neutrophil cytosolic factor 1</Name>
+            <Symbol>NCF1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">NADPH oxidase organizer 2</Synonym>
+              <Synonym lang="en">NCF1A</Synonym>
+              <Synonym lang="en">NOXO2</Synonym>
+              <Synonym lang="en">SH3PXD1A</Synonym>
+              <Synonym lang="en">chronic granulomatous disease, autosomal 1</Synonym>
+              <Synonym lang="en">p47phox</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158517</Reference>
+              </ExternalReference>
+              <ExternalReference id="31678">
+                <Source>Genatlas</Source>
+                <Reference>NCF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31680">
+                <Source>HGNC</Source>
+                <Reference>7660</Reference>
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+              <ExternalReference id="31679">
+                <Source>OMIM</Source>
+                <Reference>608512</Reference>
+              </ExternalReference>
+              <ExternalReference id="56936">
+                <Source>Reactome</Source>
+                <Reference>P14598</Reference>
+              </ExternalReference>
+              <ExternalReference id="33584">
+                <Source>SwissProt</Source>
+                <Reference>P14598</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9417">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18398435[PMID]</SourceOfValidation>
+          <Gene id="29919">
+            <Name lang="en">transmembrane protein 270</Name>
+            <Symbol>TMEM270</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC26719</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189498">
+                <Source>HGNC</Source>
+                <Reference>23018</Reference>
+              </ExternalReference>
+              <ExternalReference id="193477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175877</Reference>
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+              <ExternalReference id="201577">
+                <Source>SwissProt</Source>
+                <Reference>Q6UE05</Reference>
+              </ExternalReference>
+              <ExternalReference id="193478">
+                <Source>OMIM</Source>
+                <Reference>612547</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="82129">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="27081">
+            <Name lang="en">MLX interacting protein like</Name>
+            <Symbol>MLXIPL</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CHREBP</Synonym>
+              <Synonym lang="en">MIO</Synonym>
+              <Synonym lang="en">MONDOB</Synonym>
+              <Synonym lang="en">WS-bHLH</Synonym>
+              <Synonym lang="en">bHLHd14</Synonym>
+              <Synonym lang="en">carbohydrate response element binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="200831">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP71</Reference>
+              </ExternalReference>
+              <ExternalReference id="162663">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009950</Reference>
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+              <ExternalReference id="158291">
+                <Source>HGNC</Source>
+                <Reference>12744</Reference>
+              </ExternalReference>
+              <ExternalReference id="191459">
+                <Source>OMIM</Source>
+                <Reference>605678</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="80637">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8812460[PMID]</SourceOfValidation>
+          <Gene id="29915">
+            <Name lang="en">eukaryotic translation initiation factor 4H</Name>
+            <Symbol>EIF4H</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0038</Synonym>
+              <Synonym lang="en">WSCR1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="193466">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106682</Reference>
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+              <ExternalReference id="193467">
+                <Source>OMIM</Source>
+                <Reference>603431</Reference>
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+              <ExternalReference id="201573">
+                <Source>SwissProt</Source>
+                <Reference>Q15056</Reference>
+              </ExternalReference>
+              <ExternalReference id="189494">
+                <Source>HGNC</Source>
+                <Reference>12741</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="29910">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C30</Name>
+            <Symbol>DNAJC30</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="193458">
+                <Source>OMIM</Source>
+                <Reference>618202</Reference>
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+              <ExternalReference id="189489">
+                <Source>HGNC</Source>
+                <Reference>16410</Reference>
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+              <ExternalReference id="193457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176410</Reference>
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+              <ExternalReference id="201570">
+                <Source>SwissProt</Source>
+                <Reference>Q96LL9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="29911">
+            <Name lang="en">BAF chromatin remodeling complex subunit BCL7B</Name>
+            <Symbol>BCL7B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SMARCJ2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
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+                <Reference>605846</Reference>
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+              <ExternalReference id="189490">
+                <Source>HGNC</Source>
+                <Reference>1005</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106635</Reference>
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+              <ExternalReference id="201569">
+                <Source>SwissProt</Source>
+                <Reference>Q9BQE9</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18398435[PMID]</SourceOfValidation>
+          <Gene id="29918">
+            <Name lang="en">methyltransferase like 27</Name>
+            <Symbol>METTL27</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="193480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165171</Reference>
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+              <ExternalReference id="193481">
+                <Source>OMIM</Source>
+                <Reference>612546</Reference>
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+              <ExternalReference id="189497">
+                <Source>HGNC</Source>
+                <Reference>19068</Reference>
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+              <ExternalReference id="201578">
+                <Source>SwissProt</Source>
+                <Reference>Q8N6F8</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q11.23</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11978965[PMID]</SourceOfValidation>
+          <Gene id="29917">
+            <Name lang="en">BUD23 rRNA methyltransferase and ribosome maturation factor</Name>
+            <Symbol>BUD23</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">MERM1</Synonym>
+              <Synonym lang="en">MGC19709</Synonym>
+              <Synonym lang="en">MGC2022</Synonym>
+              <Synonym lang="en">MGC5140</Synonym>
+              <Synonym lang="en">PP3381</Synonym>
+              <Synonym lang="en">WBMT</Synonym>
+              <Synonym lang="en">metastasis-related methyltransferase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="193483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000071462</Reference>
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+              <ExternalReference id="189496">
+                <Source>HGNC</Source>
+                <Reference>16405</Reference>
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+              <ExternalReference id="193484">
+                <Source>OMIM</Source>
+                <Reference>615733</Reference>
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+              <ExternalReference id="201579">
+                <Source>SwissProt</Source>
+                <Reference>O43709</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q11.23</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="15351">
+            <Name lang="en">bromodomain adjacent to zinc finger domain 1B</Name>
+            <Symbol>BAZ1B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">WSTF</Synonym>
+              <Synonym lang="en">Williams-Beuren syndrome chromosome region 10</Synonym>
+              <Synonym lang="en">Williams-Beuren syndrome chromosome region 9</Synonym>
+              <Synonym lang="en">transcription factor WSTF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193550">
+                <Source>IUPHAR</Source>
+                <Reference>2774</Reference>
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+              <ExternalReference id="56867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009954</Reference>
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+              <ExternalReference id="37348">
+                <Source>Genatlas</Source>
+                <Reference>BAZ1B</Reference>
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+              <ExternalReference id="26103">
+                <Source>HGNC</Source>
+                <Reference>961</Reference>
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+              <ExternalReference id="26102">
+                <Source>OMIM</Source>
+                <Reference>605681</Reference>
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+              <ExternalReference id="97171">
+                <Source>Reactome</Source>
+                <Reference>Q9UIG0</Reference>
+              </ExternalReference>
+              <ExternalReference id="33908">
+                <Source>SwissProt</Source>
+                <Reference>Q9UIG0</Reference>
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+              <Locus id="66509">
+                <GeneLocus>7q11.23</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="15750">
+            <Name lang="en">CAP-Gly domain containing linker protein 2</Name>
+            <Symbol>CLIP2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">CLIP-115</Synonym>
+              <Synonym lang="en">KIAA0291</Synonym>
+              <Synonym lang="en">WSCR3</Synonym>
+              <Synonym lang="en">WSCR4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106665</Reference>
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+              <ExternalReference id="37408">
+                <Source>Genatlas</Source>
+                <Reference>CLIP2</Reference>
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+              <ExternalReference id="28008">
+                <Source>HGNC</Source>
+                <Reference>2586</Reference>
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+              <ExternalReference id="28007">
+                <Source>OMIM</Source>
+                <Reference>603432</Reference>
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+              <ExternalReference id="32722">
+                <Source>SwissProt</Source>
+                <Reference>Q9UDT6</Reference>
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+            <LocusList count="1">
+              <Locus id="7977">
+                <GeneLocus>7q11.23</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="15971">
+            <Name lang="en">elastin</Name>
+            <Symbol>ELN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">SVAS</Synonym>
+              <Synonym lang="en">WBS</Synonym>
+              <Synonym lang="en">WS</Synonym>
+              <Synonym lang="en">Williams-Beuren syndrome</Synonym>
+              <Synonym lang="en">supravalvular aortic stenosis</Synonym>
+              <Synonym lang="en">tropoelastin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049540</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ELN</Reference>
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+              <ExternalReference id="29054">
+                <Source>HGNC</Source>
+                <Reference>3327</Reference>
+              </ExternalReference>
+              <ExternalReference id="29053">
+                <Source>OMIM</Source>
+                <Reference>130160</Reference>
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+              <ExternalReference id="82898">
+                <Source>Reactome</Source>
+                <Reference>P15502</Reference>
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+              <ExternalReference id="32983">
+                <Source>SwissProt</Source>
+                <Reference>P15502</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="16174">
+            <Name lang="en">general transcription factor IIi</Name>
+            <Symbol>GTF2I</Symbol>
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+              <Synonym lang="en">BTKAP1</Synonym>
+              <Synonym lang="en">DIWS</Synonym>
+              <Synonym lang="en">IB291</Synonym>
+              <Synonym lang="en">SPIN</Synonym>
+              <Synonym lang="en">TFII-I</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143969">
+                <Source>Reactome</Source>
+                <Reference>P78347</Reference>
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+              <ExternalReference id="33193">
+                <Source>SwissProt</Source>
+                <Reference>P78347</Reference>
+              </ExternalReference>
+              <ExternalReference id="91945">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000263001</Reference>
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+              <ExternalReference id="37116">
+                <Source>Genatlas</Source>
+                <Reference>GTF2I</Reference>
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+              <ExternalReference id="30066">
+                <Source>HGNC</Source>
+                <Reference>4659</Reference>
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+              <ExternalReference id="30065">
+                <Source>OMIM</Source>
+                <Reference>601679</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="16175">
+            <Name lang="en">GTF2I repeat domain containing 1</Name>
+            <Symbol>GTF2IRD1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BEN</Synonym>
+              <Synonym lang="en">Cream1</Synonym>
+              <Synonym lang="en">GTF3</Synonym>
+              <Synonym lang="en">MusTRD1</Synonym>
+              <Synonym lang="en">RBAP2</Synonym>
+              <Synonym lang="en">WBSCR12</Synonym>
+              <Synonym lang="en">binding factor for early enhancer</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143498">
+                <Source>Reactome</Source>
+                <Reference>Q9UHL9</Reference>
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+              <ExternalReference id="56875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006704</Reference>
+              </ExternalReference>
+              <ExternalReference id="37117">
+                <Source>Genatlas</Source>
+                <Reference>GTF2IRD1</Reference>
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+              <ExternalReference id="30070">
+                <Source>HGNC</Source>
+                <Reference>4661</Reference>
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+              <ExternalReference id="30069">
+                <Source>OMIM</Source>
+                <Reference>604318</Reference>
+              </ExternalReference>
+              <ExternalReference id="33194">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHL9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38693">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301427[PMID]</SourceOfValidation>
+          <Gene id="16358">
+            <Name lang="en">LIM domain kinase 1</Name>
+            <Symbol>LIMK1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LIMK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106683</Reference>
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+              <ExternalReference id="37204">
+                <Source>Genatlas</Source>
+                <Reference>LIMK1</Reference>
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+              <ExternalReference id="30936">
+                <Source>HGNC</Source>
+                <Reference>6613</Reference>
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+              <ExternalReference id="82982">
+                <Source>IUPHAR</Source>
+                <Reference>2054</Reference>
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+              <ExternalReference id="30935">
+                <Source>OMIM</Source>
+                <Reference>601329</Reference>
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+              <ExternalReference id="56878">
+                <Source>Reactome</Source>
+                <Reference>P53667</Reference>
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+              <ExternalReference id="33423">
+                <Source>SwissProt</Source>
+                <Reference>P53667</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="147">
+      <OrphaCode>280</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280</ExpertLink>
+      <Name lang="en">Wolf-Hirschhorn syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26239400[PMID]</SourceOfValidation>
+          <Gene id="25819">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class G</Name>
+            <Symbol>PIGG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20265</Synonym>
+              <Synonym lang="en">GPI ethanolamine phosphate transferase 2</Synonym>
+              <Synonym lang="en">GPI7</Synonym>
+              <Synonym lang="en">LAS21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147493">
+                <Source>SwissProt</Source>
+                <Reference>Q5H8A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="147494">
+                <Source>OMIM</Source>
+                <Reference>616918</Reference>
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+              <ExternalReference id="147495">
+                <Source>Genatlas</Source>
+                <Reference>PIGG</Reference>
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+              <ExternalReference id="147496">
+                <Source>Reactome</Source>
+                <Reference>Q5H8A4</Reference>
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+              <ExternalReference id="147491">
+                <Source>HGNC</Source>
+                <Reference>25985</Reference>
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+              <ExternalReference id="147492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174227</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26239400[PMID]</SourceOfValidation>
+          <Gene id="25557">
+            <Name lang="en">complexin 1</Name>
+            <Symbol>CPLX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPX-I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="145757">
+                <Source>HGNC</Source>
+                <Reference>2309</Reference>
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+              <ExternalReference id="145758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168993</Reference>
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+              <ExternalReference id="145759">
+                <Source>SwissProt</Source>
+                <Reference>O14810</Reference>
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+              <ExternalReference id="145760">
+                <Source>OMIM</Source>
+                <Reference>605032</Reference>
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+              <ExternalReference id="145761">
+                <Source>Genatlas</Source>
+                <Reference>CPLX1</Reference>
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+              <ExternalReference id="145762">
+                <Source>Reactome</Source>
+                <Reference>O14810</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26239400[PMID]</SourceOfValidation>
+          <Gene id="29802">
+            <Name lang="en">C-terminal binding protein 1</Name>
+            <Symbol>CTBP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BARS</Synonym>
+              <Synonym lang="en">brefeldin A-ribosylated substrate</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="188032">
+                <Source>HGNC</Source>
+                <Reference>2494</Reference>
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+              <ExternalReference id="188033">
+                <Source>OMIM</Source>
+                <Reference>602618</Reference>
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+              <ExternalReference id="188034">
+                <Source>SwissProt</Source>
+                <Reference>Q13363</Reference>
+              </ExternalReference>
+              <ExternalReference id="188035">
+                <Source>Reactome</Source>
+                <Reference>Q13363</Reference>
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+              <ExternalReference id="188036">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159692</Reference>
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+                <GeneLocus>4p16.3</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15722">
+            <Name lang="en">nuclear receptor binding SET domain protein 2</Name>
+            <Symbol>NSD2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KMT3G</Synonym>
+              <Synonym lang="en">MMSET</Synonym>
+              <Synonym lang="en">multiple myeloma SET domain containing protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56888">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109685</Reference>
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+              <ExternalReference id="36514">
+                <Source>Genatlas</Source>
+                <Reference>WHSC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12766</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602952</Reference>
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+              <ExternalReference id="97195">
+                <Source>Reactome</Source>
+                <Reference>O96028</Reference>
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+              <ExternalReference id="32694">
+                <Source>SwissProt</Source>
+                <Reference>O96028</Reference>
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+                <GeneLocus>4p16.3</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15723">
+            <Name lang="en">negative elongation factor complex member A</Name>
+            <Symbol>NELFA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NELF-A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="32695">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3P2</Reference>
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+              <ExternalReference id="56889">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185049</Reference>
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+              <ExternalReference id="99981">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="27886">
+                <Source>HGNC</Source>
+                <Reference>12768</Reference>
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+              <ExternalReference id="27885">
+                <Source>OMIM</Source>
+                <Reference>606026</Reference>
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+              <ExternalReference id="56890">
+                <Source>Reactome</Source>
+                <Reference>Q9H3P2</Reference>
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+              </Locus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20853">
+            <Name lang="en">leucine zipper and EF-hand containing transmembrane protein 1</Name>
+            <Symbol>LETM1</Symbol>
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+              <Synonym lang="en">Mdm38 homolog (yeast)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Reactome</Source>
+                <Reference>O95202</Reference>
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+              <ExternalReference id="190535">
+                <Source>IUPHAR</Source>
+                <Reference>3025</Reference>
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+              <ExternalReference id="83310">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168924</Reference>
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+              <ExternalReference id="61264">
+                <Source>Genatlas</Source>
+                <Reference>LETM1</Reference>
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+              <ExternalReference id="61262">
+                <Source>HGNC</Source>
+                <Reference>6556</Reference>
+              </ExternalReference>
+              <ExternalReference id="61263">
+                <Source>OMIM</Source>
+                <Reference>604407</Reference>
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+              <ExternalReference id="61265">
+                <Source>SwissProt</Source>
+                <Reference>O95202</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=15</ExpertLink>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
+              </ExternalReference>
+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
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+              <ExternalReference id="29456">
+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
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+              <ExternalReference id="29455">
+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
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+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
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+              <ExternalReference id="33062">
+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96</ExpertLink>
+      <Name lang="en">Ataxia with vitamin E deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15673">
+            <Name lang="en">alpha tocopherol transfer protein</Name>
+            <Symbol>TTPA</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137561</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TTPA</Reference>
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+              <ExternalReference id="27653">
+                <Source>HGNC</Source>
+                <Reference>12404</Reference>
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+              <ExternalReference id="27652">
+                <Source>OMIM</Source>
+                <Reference>600415</Reference>
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+              <ExternalReference id="32645">
+                <Source>SwissProt</Source>
+                <Reference>P49638</Reference>
+              </ExternalReference>
+              <ExternalReference id="143164">
+                <Source>Reactome</Source>
+                <Reference>P49638</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="150">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101</ExpertLink>
+      <Name lang="en">Dentatorubral pallidoluysian atrophy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="15963">
+            <Name lang="en">atrophin 1</Name>
+            <Symbol>ATN1</Symbol>
+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111676</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3033</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607462</Reference>
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+              <ExternalReference id="32974">
+                <Source>SwissProt</Source>
+                <Reference>P54259</Reference>
+              </ExternalReference>
+              <ExternalReference id="143415">
+                <Source>Reactome</Source>
+                <Reference>P54259</Reference>
+              </ExternalReference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="170">
+      <OrphaCode>276</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276</ExpertLink>
+      <Name lang="en">T-B+ severe combined immunodeficiency due to gamma chain deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16257">
+            <Name lang="en">interleukin 2 receptor subunit gamma</Name>
+            <Symbol>IL2RG</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD132</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56925">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147168</Reference>
+              </ExternalReference>
+              <ExternalReference id="30459">
+                <Source>Genatlas</Source>
+                <Reference>IL2RG</Reference>
+              </ExternalReference>
+              <ExternalReference id="30457">
+                <Source>HGNC</Source>
+                <Reference>6010</Reference>
+              </ExternalReference>
+              <ExternalReference id="30456">
+                <Source>OMIM</Source>
+                <Reference>308380</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P31785</Reference>
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+              <ExternalReference id="33322">
+                <Source>SwissProt</Source>
+                <Reference>P31785</Reference>
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+              <ExternalReference id="193576">
+                <Source>IUPHAR</Source>
+                <Reference>2303</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="169">
+      <OrphaCode>481</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=481</ExpertLink>
+      <Name lang="en">Kennedy disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="16667">
+            <Name lang="en">androgen receptor</Name>
+            <Symbol>AR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AIS</Synonym>
+              <Synonym lang="en">HUMARA</Synonym>
+              <Synonym lang="en">Kennedy disease</Synonym>
+              <Synonym lang="en">NR3C4</Synonym>
+              <Synonym lang="en">SMAX1</Synonym>
+              <Synonym lang="en">testicular feminization</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="56923">
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+                <Reference>ENSG00000169083</Reference>
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+              <ExternalReference id="37195">
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+                <Reference>AR</Reference>
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+              <ExternalReference id="34020">
+                <Source>HGNC</Source>
+                <Reference>644</Reference>
+              </ExternalReference>
+              <ExternalReference id="83026">
+                <Source>IUPHAR</Source>
+                <Reference>628</Reference>
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+                <Reference>313700</Reference>
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+              <ExternalReference id="56924">
+                <Source>Reactome</Source>
+                <Reference>P10275</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10275</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>664</OrphaCode>
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+      <Name lang="en">Ornithine transcarbamylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>24006547[PMID]</SourceOfValidation>
+          <Gene id="16597">
+            <Name lang="en">ornithine transcarbamylase</Name>
+            <Symbol>OTC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">OTCD</Synonym>
+              <Synonym lang="en">OTCase</Synonym>
+              <Synonym lang="en">ornithine transcarbamylase deficiency</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56920">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036473</Reference>
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+              <ExternalReference id="32048">
+                <Source>Genatlas</Source>
+                <Reference>OTC</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>8512</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00480</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00480</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Classic homocystinuria</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cystathionine beta-synthase</Name>
+            <Symbol>CBS</Symbol>
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+              <Synonym lang="en">HIP4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160200</Reference>
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+                <Reference>CBS</Reference>
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+                <Reference>1550</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P35520</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35520</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P06213</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171105</Reference>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="193458">
+                <Source>OMIM</Source>
+                <Reference>618202</Reference>
+              </ExternalReference>
+              <ExternalReference id="189489">
+                <Source>HGNC</Source>
+                <Reference>16410</Reference>
+              </ExternalReference>
+              <ExternalReference id="193457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176410</Reference>
+              </ExternalReference>
+              <ExternalReference id="201570">
+                <Source>SwissProt</Source>
+                <Reference>Q96LL9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="82115">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
+          <Gene id="16470">
+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP6</Synonym>
+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198899</Reference>
+              </ExternalReference>
+              <ExternalReference id="37241">
+                <Source>Genatlas</Source>
+                <Reference>MT-ATP6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31454">
+                <Source>HGNC</Source>
+                <Reference>7414</Reference>
+              </ExternalReference>
+              <ExternalReference id="31453">
+                <Source>OMIM</Source>
+                <Reference>516060</Reference>
+              </ExternalReference>
+              <ExternalReference id="56909">
+                <Source>Reactome</Source>
+                <Reference>P00846</Reference>
+              </ExternalReference>
+              <ExternalReference id="33535">
+                <Source>SwissProt</Source>
+                <Reference>P00846</Reference>
+              </ExternalReference>
+              <ExternalReference id="190403">
+                <Source>IUPHAR</Source>
+                <Reference>801</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60215">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1322638[PMID]</SourceOfValidation>
+          <Gene id="16471">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase I</Name>
+            <Symbol>MT-CO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COI</Synonym>
+              <Synonym lang="en">COX1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198804</Reference>
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+              <ExternalReference id="37247">
+                <Source>Genatlas</Source>
+                <Reference>MT-CO1</Reference>
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+              <ExternalReference id="31458">
+                <Source>HGNC</Source>
+                <Reference>7419</Reference>
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+              <ExternalReference id="31457">
+                <Source>OMIM</Source>
+                <Reference>516030</Reference>
+              </ExternalReference>
+              <ExternalReference id="56919">
+                <Source>Reactome</Source>
+                <Reference>P00395</Reference>
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+              <ExternalReference id="33536">
+                <Source>SwissProt</Source>
+                <Reference>P00395</Reference>
+              </ExternalReference>
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+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
+          <Gene id="16473">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase III</Name>
+            <Symbol>MT-CO3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CO3</Synonym>
+              <Synonym lang="en">COIII</Synonym>
+              <Synonym lang="en">COX3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56749">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198938</Reference>
+              </ExternalReference>
+              <ExternalReference id="37249">
+                <Source>Genatlas</Source>
+                <Reference>MT-CO3</Reference>
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+              <ExternalReference id="31466">
+                <Source>HGNC</Source>
+                <Reference>7422</Reference>
+              </ExternalReference>
+              <ExternalReference id="31465">
+                <Source>OMIM</Source>
+                <Reference>516050</Reference>
+              </ExternalReference>
+              <ExternalReference id="56750">
+                <Source>Reactome</Source>
+                <Reference>P00414</Reference>
+              </ExternalReference>
+              <ExternalReference id="33538">
+                <Source>SwissProt</Source>
+                <Reference>P00414</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
+          <Gene id="16474">
+            <Name lang="en">mitochondrially encoded cytochrome b</Name>
+            <Symbol>MT-CYB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COB</Synonym>
+              <Synonym lang="en">CYTB</Synonym>
+              <Synonym lang="en">UQCR3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56916">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198727</Reference>
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+              <ExternalReference id="37256">
+                <Source>Genatlas</Source>
+                <Reference>MT-CYB</Reference>
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+              <ExternalReference id="31470">
+                <Source>HGNC</Source>
+                <Reference>7427</Reference>
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+              <ExternalReference id="31469">
+                <Source>OMIM</Source>
+                <Reference>516020</Reference>
+              </ExternalReference>
+              <ExternalReference id="56917">
+                <Source>Reactome</Source>
+                <Reference>P00156</Reference>
+              </ExternalReference>
+              <ExternalReference id="33539">
+                <Source>SwissProt</Source>
+                <Reference>P00156</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1</Name>
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+              <Synonym lang="en">NAD1</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 1</Synonym>
+              <Synonym lang="en">ND1</Synonym>
+              <Synonym lang="en">complex I ND1 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198888</Reference>
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+              <ExternalReference id="37257">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND1</Reference>
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+              <ExternalReference id="31489">
+                <Source>HGNC</Source>
+                <Reference>7455</Reference>
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+              <ExternalReference id="31488">
+                <Source>OMIM</Source>
+                <Reference>516000</Reference>
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+              <ExternalReference id="56742">
+                <Source>Reactome</Source>
+                <Reference>P03886</Reference>
+              </ExternalReference>
+              <ExternalReference id="33543">
+                <Source>SwissProt</Source>
+                <Reference>P03886</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2</Name>
+            <Symbol>MT-ND2</Symbol>
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+              <Synonym lang="en">NAD2</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 2</Synonym>
+              <Synonym lang="en">ND2</Synonym>
+              <Synonym lang="en">complex I ND2 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56910">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198763</Reference>
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+              <ExternalReference id="37258">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7456</Reference>
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+              <ExternalReference id="31492">
+                <Source>OMIM</Source>
+                <Reference>516001</Reference>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="33544">
+                <Source>SwissProt</Source>
+                <Reference>P03891</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301353[PMID]</SourceOfValidation>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 4</Synonym>
+              <Synonym lang="en">ND4</Synonym>
+              <Synonym lang="en">complex I ND4 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198886</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7459</Reference>
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+              <ExternalReference id="31500">
+                <Source>OMIM</Source>
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+              <ExternalReference id="56744">
+                <Source>Reactome</Source>
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+              <ExternalReference id="33546">
+                <Source>SwissProt</Source>
+                <Reference>P03905</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L</Name>
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+              <Synonym lang="en">NAD4L</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 4L</Synonym>
+              <Synonym lang="en">ND4L</Synonym>
+              <Synonym lang="en">complex I ND4L subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>7460</Reference>
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+              <ExternalReference id="31504">
+                <Source>OMIM</Source>
+                <Reference>516004</Reference>
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+              <ExternalReference id="56915">
+                <Source>Reactome</Source>
+                <Reference>P03901</Reference>
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+              <ExternalReference id="33547">
+                <Source>SwissProt</Source>
+                <Reference>P03901</Reference>
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+              <ExternalReference id="56914">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000212907</Reference>
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+              <ExternalReference id="37532">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND4L</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5</Name>
+            <Symbol>MT-ND5</Symbol>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 5</Synonym>
+              <Synonym lang="en">ND5</Synonym>
+              <Synonym lang="en">complex I ND5 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56745">
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+                <Reference>ENSG00000198786</Reference>
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+                <Reference>7461</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 6</Synonym>
+              <Synonym lang="en">ND6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>7462</Reference>
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+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2182</ExpertLink>
+      <Name lang="en">Hydrocephalus with stenosis of the aqueduct of Sylvius</Name>
+      <DisorderType id="21450">
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+            <Name lang="en">L1 cell adhesion molecule</Name>
+            <Symbol>L1CAM</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CAML1</Synonym>
+              <Synonym lang="en">CD171</Synonym>
+              <Synonym lang="en">NCAM-L1</Synonym>
+              <Synonym lang="en">neural cell adhesion molecule L1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198910</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17509">
+      <OrphaCode>163634</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163634</ExpertLink>
+      <Name lang="en">Maffucci syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22057234[PMID]_22057236[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
+              </ExternalReference>
+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
+              </ExternalReference>
+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
+              </ExternalReference>
+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22057234[PMID]_22057236[PMID]</SourceOfValidation>
+          <Gene id="21083">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 1</Name>
+            <Symbol>IDH1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190558">
+                <Source>IUPHAR</Source>
+                <Reference>2884</Reference>
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+              <ExternalReference id="83345">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138413</Reference>
+              </ExternalReference>
+              <ExternalReference id="61769">
+                <Source>Genatlas</Source>
+                <Reference>IDH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="61767">
+                <Source>HGNC</Source>
+                <Reference>5382</Reference>
+              </ExternalReference>
+              <ExternalReference id="61768">
+                <Source>OMIM</Source>
+                <Reference>147700</Reference>
+              </ExternalReference>
+              <ExternalReference id="83344">
+                <Source>Reactome</Source>
+                <Reference>O75874</Reference>
+              </ExternalReference>
+              <ExternalReference id="61770">
+                <Source>SwissProt</Source>
+                <Reference>O75874</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="60525">
+                <GeneLocus>2q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17531">
+      <OrphaCode>163717</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163717</ExpertLink>
+      <Name lang="en">Benign familial mesial temporal lobe epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21922598[PMID]</SourceOfValidation>
+          <Gene id="15792">
+            <Name lang="en">carboxypeptidase A6</Name>
+            <Symbol>CPA6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPAH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32764">
+                <Source>SwissProt</Source>
+                <Reference>Q8N4T0</Reference>
+              </ExternalReference>
+              <ExternalReference id="193622">
+                <Source>IUPHAR</Source>
+                <Reference>1592</Reference>
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+              <ExternalReference id="57931">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165078</Reference>
+              </ExternalReference>
+              <ExternalReference id="36590">
+                <Source>Genatlas</Source>
+                <Reference>CPA6</Reference>
+              </ExternalReference>
+              <ExternalReference id="28212">
+                <Source>HGNC</Source>
+                <Reference>17245</Reference>
+              </ExternalReference>
+              <ExternalReference id="28211">
+                <Source>OMIM</Source>
+                <Reference>609562</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66653">
+                <GeneLocus>8q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="190">
+      <OrphaCode>649</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=649</ExpertLink>
+      <Name lang="en">Norrie disease</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9228243[PMID]_20301506[PMID]</SourceOfValidation>
+          <Gene id="16523">
+            <Name lang="en">norrin cystine knot growth factor NDP</Name>
+            <Symbol>NDP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">norrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="142931">
+                <Source>Reactome</Source>
+                <Reference>Q00604</Reference>
+              </ExternalReference>
+              <ExternalReference id="56948">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124479</Reference>
+              </ExternalReference>
+              <ExternalReference id="31699">
+                <Source>Genatlas</Source>
+                <Reference>NDP</Reference>
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+              <ExternalReference id="31697">
+                <Source>HGNC</Source>
+                <Reference>7678</Reference>
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+              <ExternalReference id="70915">
+                <Source>OMIM</Source>
+                <Reference>300658</Reference>
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+              <ExternalReference id="33588">
+                <Source>SwissProt</Source>
+                <Reference>Q00604</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="17533">
+      <OrphaCode>163727</OrphaCode>
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+      <Name lang="en">Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>31257402[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
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+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+              <ExternalReference id="47768">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613577</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULP9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Rolandic epilepsy-speech dyspraxia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">sushi repeat containing protein X-linked 2</Name>
+            <Symbol>SRPX2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRPUL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102359</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SRPX2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30668</Reference>
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+                <Reference>300642</Reference>
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+              <ExternalReference id="32528">
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+                <Reference>O60687</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23933818[PMID]</SourceOfValidation>
+          <Gene id="20706">
+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2A</Name>
+            <Symbol>GRIN2A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GluN2A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183454</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>4585</Reference>
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+                <Reference>456</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138253</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q12879</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Leukoencephalopathy-dystonia-motor neuropathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">sterol carrier protein 2</Name>
+            <Symbol>SCP2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116171</Reference>
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+                <Reference>SCP2</Reference>
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+                <Reference>10606</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">CNTNAP2-related developmental and epileptic encephalopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>CNTNAP2</Symbol>
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+              <Synonym lang="en">KIAA0868</Synonym>
+              <Synonym lang="en">NRXN4</Synonym>
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+                <Reference>ENSG00000174469</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CNTNAP2</Reference>
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+                <Reference>13830</Reference>
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+                <Reference>Q9UHC6</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=379</ExpertLink>
+      <Name lang="en">Chronic granulomatous disease</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">cytochrome b-245 beta chain</Name>
+            <Symbol>CYBB</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">NADPH oxidase 2</Synonym>
+              <Synonym lang="en">NOX2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165168</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>3002</Reference>
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+                <Reference>CYBB</Reference>
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+                <Reference>2578</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P04839</Reference>
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+                <Reference>P04839</Reference>
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+            <LocusList count="1">
+              <Locus id="66677">
+                <GeneLocus>Xp21.1-p11.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876374[PMID]</SourceOfValidation>
+          <Gene id="16519">
+            <Name lang="en">neutrophil cytosolic factor 1</Name>
+            <Symbol>NCF1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">NADPH oxidase organizer 2</Synonym>
+              <Synonym lang="en">NCF1A</Synonym>
+              <Synonym lang="en">NOXO2</Synonym>
+              <Synonym lang="en">SH3PXD1A</Synonym>
+              <Synonym lang="en">chronic granulomatous disease, autosomal 1</Synonym>
+              <Synonym lang="en">p47phox</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158517</Reference>
+              </ExternalReference>
+              <ExternalReference id="31678">
+                <Source>Genatlas</Source>
+                <Reference>NCF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31680">
+                <Source>HGNC</Source>
+                <Reference>7660</Reference>
+              </ExternalReference>
+              <ExternalReference id="31679">
+                <Source>OMIM</Source>
+                <Reference>608512</Reference>
+              </ExternalReference>
+              <ExternalReference id="56936">
+                <Source>Reactome</Source>
+                <Reference>P14598</Reference>
+              </ExternalReference>
+              <ExternalReference id="33584">
+                <Source>SwissProt</Source>
+                <Reference>P14598</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9417">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876374[PMID]</SourceOfValidation>
+          <Gene id="16520">
+            <Name lang="en">neutrophil cytosolic factor 2</Name>
+            <Symbol>NCF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NADPH oxidase activator 2</Synonym>
+              <Synonym lang="en">NOXA2</Synonym>
+              <Synonym lang="en">chronic granulomatous disease, autosomal 2</Synonym>
+              <Synonym lang="en">p67phox</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56937">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116701</Reference>
+              </ExternalReference>
+              <ExternalReference id="31686">
+                <Source>Genatlas</Source>
+                <Reference>NCF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31684">
+                <Source>HGNC</Source>
+                <Reference>7661</Reference>
+              </ExternalReference>
+              <ExternalReference id="31683">
+                <Source>OMIM</Source>
+                <Reference>608515</Reference>
+              </ExternalReference>
+              <ExternalReference id="56938">
+                <Source>Reactome</Source>
+                <Reference>P19878</Reference>
+              </ExternalReference>
+              <ExternalReference id="33585">
+                <Source>SwissProt</Source>
+                <Reference>P19878</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23559">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876374[PMID]</SourceOfValidation>
+          <Gene id="16827">
+            <Name lang="en">cytochrome b-245 alpha chain</Name>
+            <Symbol>CYBA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">flavocytochrome b-558 alpha polypeptide</Synonym>
+              <Synonym lang="en">p22-PHOX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56931">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000051523</Reference>
+              </ExternalReference>
+              <ExternalReference id="35138">
+                <Source>Genatlas</Source>
+                <Reference>CYBA</Reference>
+              </ExternalReference>
+              <ExternalReference id="35140">
+                <Source>HGNC</Source>
+                <Reference>2577</Reference>
+              </ExternalReference>
+              <ExternalReference id="35141">
+                <Source>OMIM</Source>
+                <Reference>608508</Reference>
+              </ExternalReference>
+              <ExternalReference id="56932">
+                <Source>Reactome</Source>
+                <Reference>P13498</Reference>
+              </ExternalReference>
+              <ExternalReference id="35139">
+                <Source>SwissProt</Source>
+                <Reference>P13498</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15839">
+                <GeneLocus>16q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876374[PMID]</SourceOfValidation>
+          <Gene id="18486">
+            <Name lang="en">neutrophil cytosolic factor 4</Name>
+            <Symbol>NCF4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SH3PXD4</Synonym>
+              <Synonym lang="en">neutrophil NADPH oxidase factor 4</Synonym>
+              <Synonym lang="en">p40phox</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100365</Reference>
+              </ExternalReference>
+              <ExternalReference id="42492">
+                <Source>Genatlas</Source>
+                <Reference>NCF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="42493">
+                <Source>HGNC</Source>
+                <Reference>7662</Reference>
+              </ExternalReference>
+              <ExternalReference id="42494">
+                <Source>OMIM</Source>
+                <Reference>601488</Reference>
+              </ExternalReference>
+              <ExternalReference id="56940">
+                <Source>Reactome</Source>
+                <Reference>Q15080</Reference>
+              </ExternalReference>
+              <ExternalReference id="42495">
+                <Source>SwissProt</Source>
+                <Reference>Q15080</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25445">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30361506[PMID]</SourceOfValidation>
+          <Gene id="27773">
+            <Name lang="en">cytochrome b-245 chaperone 1</Name>
+            <Symbol>CYBC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Eros</Synonym>
+              <Synonym lang="en">FLJ90469</Synonym>
+              <Synonym lang="en">MGC4368</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="161529">
+                <Source>HGNC</Source>
+                <Reference>28672</Reference>
+              </ExternalReference>
+              <ExternalReference id="161530">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178927</Reference>
+              </ExternalReference>
+              <ExternalReference id="161531">
+                <Source>SwissProt</Source>
+                <Reference>Q9BQA9</Reference>
+              </ExternalReference>
+              <ExternalReference id="161532">
+                <Source>Reactome</Source>
+                <Reference>Q9BQA9</Reference>
+              </ExternalReference>
+              <ExternalReference id="161533">
+                <Source>OMIM</Source>
+                <Reference>618334</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50235">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="177">
+      <OrphaCode>16</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=16</ExpertLink>
+      <Name lang="en">Blue cone monochromatism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15069569[PMID]</SourceOfValidation>
+          <Gene id="16593">
+            <Name lang="en">opsin 1, medium wave sensitive</Name>
+            <Symbol>OPN1MW</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COD5</Synonym>
+              <Synonym lang="en">OPN1MW1</Synonym>
+              <Synonym lang="en">cone dystrophy 5 (X-linked)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190387">
+                <Source>IUPHAR</Source>
+                <Reference>2962</Reference>
+              </ExternalReference>
+              <ExternalReference id="95170">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000268221</Reference>
+              </ExternalReference>
+              <ExternalReference id="32028">
+                <Source>Genatlas</Source>
+                <Reference>OPN1MW</Reference>
+              </ExternalReference>
+              <ExternalReference id="32030">
+                <Source>HGNC</Source>
+                <Reference>4206</Reference>
+              </ExternalReference>
+              <ExternalReference id="77005">
+                <Source>OMIM</Source>
+                <Reference>300821</Reference>
+              </ExternalReference>
+              <ExternalReference id="56944">
+                <Source>Reactome</Source>
+                <Reference>P04001</Reference>
+              </ExternalReference>
+              <ExternalReference id="33658">
+                <Source>SwissProt</Source>
+                <Reference>P04001</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15069569[PMID]</SourceOfValidation>
+          <Gene id="16592">
+            <Name lang="en">opsin 1, long wave sensitive</Name>
+            <Symbol>OPN1LW</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COD5</Synonym>
+              <Synonym lang="en">cone dystrophy 5 (X-linked)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56942">
+                <Source>Reactome</Source>
+                <Reference>P04000</Reference>
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+              <ExternalReference id="33657">
+                <Source>SwissProt</Source>
+                <Reference>P04000</Reference>
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+              <ExternalReference id="56941">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102076</Reference>
+              </ExternalReference>
+              <ExternalReference id="32026">
+                <Source>Genatlas</Source>
+                <Reference>OPN1LW</Reference>
+              </ExternalReference>
+              <ExternalReference id="32024">
+                <Source>HGNC</Source>
+                <Reference>9936</Reference>
+              </ExternalReference>
+              <ExternalReference id="74715">
+                <Source>OMIM</Source>
+                <Reference>300822</Reference>
+              </ExternalReference>
+              <ExternalReference id="190386">
+                <Source>IUPHAR</Source>
+                <Reference>2961</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="17527">
+      <OrphaCode>163699</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163699</ExpertLink>
+      <Name lang="en">Alveolar soft tissue sarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21279521[PMID]</SourceOfValidation>
+          <Gene id="15603">
+            <Name lang="en">transcription factor binding to IGHM enhancer 3</Name>
+            <Symbol>TFE3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TFEA</Synonym>
+              <Synonym lang="en">bHLHe33</Synonym>
+              <Synonym lang="en">transcription factor E family, member A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143980">
+                <Source>Reactome</Source>
+                <Reference>P19532</Reference>
+              </ExternalReference>
+              <ExternalReference id="59082">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068323</Reference>
+              </ExternalReference>
+              <ExternalReference id="37375">
+                <Source>Genatlas</Source>
+                <Reference>TFE3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27321">
+                <Source>HGNC</Source>
+                <Reference>11752</Reference>
+              </ExternalReference>
+              <ExternalReference id="27320">
+                <Source>OMIM</Source>
+                <Reference>314310</Reference>
+              </ExternalReference>
+              <ExternalReference id="32574">
+                <Source>SwissProt</Source>
+                <Reference>P19532</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xp11.23</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21279521[PMID]</SourceOfValidation>
+          <Gene id="17758">
+            <Name lang="en">ASPSCR1 tether for SLC2A4, UBX domain containing</Name>
+            <Symbol>ASPSCR1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ASPL</Synonym>
+              <Synonym lang="en">ASPS</Synonym>
+              <Synonym lang="en">TUG</Synonym>
+              <Synonym lang="en">Tether containing UBX domain for GLUT4</Synonym>
+              <Synonym lang="en">UBX domain protein 9</Synonym>
+              <Synonym lang="en">UBXD9</Synonym>
+              <Synonym lang="en">UBXN9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="39589">
+                <Source>OMIM</Source>
+                <Reference>606236</Reference>
+              </ExternalReference>
+              <ExternalReference id="83119">
+                <Source>Reactome</Source>
+                <Reference>Q9BZE9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZE9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169696</Reference>
+              </ExternalReference>
+              <ExternalReference id="39587">
+                <Source>Genatlas</Source>
+                <Reference>ASPSCR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39588">
+                <Source>HGNC</Source>
+                <Reference>13825</Reference>
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+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>644</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=644</ExpertLink>
+      <Name lang="en">NARP syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301352[PMID]</SourceOfValidation>
+          <Gene id="16470">
+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP6</Synonym>
+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198899</Reference>
+              </ExternalReference>
+              <ExternalReference id="37241">
+                <Source>Genatlas</Source>
+                <Reference>MT-ATP6</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>7414</Reference>
+              </ExternalReference>
+              <ExternalReference id="31453">
+                <Source>OMIM</Source>
+                <Reference>516060</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>P00846</Reference>
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+              <ExternalReference id="33535">
+                <Source>SwissProt</Source>
+                <Reference>P00846</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>801</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="183">
+      <OrphaCode>637</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=637</ExpertLink>
+      <Name lang="en">Full NF2-related schwannomatosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>20301380[PMID]</SourceOfValidation>
+          <Gene id="16543">
+            <Name lang="en">NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor</Name>
+            <Symbol>NF2</Symbol>
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+              <Synonym lang="en">ACN</Synonym>
+              <Synonym lang="en">BANF</Synonym>
+              <Synonym lang="en">Merlin</Synonym>
+              <Synonym lang="en">SCH</Synonym>
+              <Synonym lang="en">bilateral acoustic neurofibromatosis</Synonym>
+              <Synonym lang="en">merlin</Synonym>
+              <Synonym lang="en">merlin-1</Synonym>
+              <Synonym lang="en">moesin-ezrin-radixin like</Synonym>
+              <Synonym lang="en">schwannomin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186575</Reference>
+              </ExternalReference>
+              <ExternalReference id="31793">
+                <Source>Genatlas</Source>
+                <Reference>NF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31791">
+                <Source>HGNC</Source>
+                <Reference>7773</Reference>
+              </ExternalReference>
+              <ExternalReference id="31790">
+                <Source>OMIM</Source>
+                <Reference>607379</Reference>
+              </ExternalReference>
+              <ExternalReference id="97240">
+                <Source>Reactome</Source>
+                <Reference>P35240</Reference>
+              </ExternalReference>
+              <ExternalReference id="33608">
+                <Source>SwissProt</Source>
+                <Reference>P35240</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16727">
+                <GeneLocus>22q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17526">
+      <OrphaCode>163696</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163696</ExpertLink>
+      <Name lang="en">Action myoclonus-renal failure syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26677510[PMID]</SourceOfValidation>
+          <Gene id="17585">
+            <Name lang="en">scavenger receptor class B member 2</Name>
+            <Symbol>SCARB2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HLGP85</Synonym>
+              <Synonym lang="en">LIMP-2</Synonym>
+              <Synonym lang="en">LIMPII</Synonym>
+              <Synonym lang="en">SR-BII</Synonym>
+              <Synonym lang="en">lysosomal integral membrane protein II</Synonym>
+              <Synonym lang="en">lysosome membrane protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126376">
+                <Source>Reactome</Source>
+                <Reference>Q14108</Reference>
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+              <ExternalReference id="57136">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138760</Reference>
+              </ExternalReference>
+              <ExternalReference id="38664">
+                <Source>Genatlas</Source>
+                <Reference>SCARB2</Reference>
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+              <ExternalReference id="38665">
+                <Source>HGNC</Source>
+                <Reference>1665</Reference>
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+              <ExternalReference id="38666">
+                <Source>OMIM</Source>
+                <Reference>602257</Reference>
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+              <ExternalReference id="38667">
+                <Source>SwissProt</Source>
+                <Reference>Q14108</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>4q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="180">
+      <OrphaCode>181</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=181</ExpertLink>
+      <Name lang="en">X-linked hypohidrotic ectodermal dysplasia</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15908">
+            <Name lang="en">ectodysplasin A</Name>
+            <Symbol>EDA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ED1-A1</Synonym>
+              <Synonym lang="en">ED1-A2</Synonym>
+              <Synonym lang="en">EDA-A1</Synonym>
+              <Synonym lang="en">EDA-A2</Synonym>
+              <Synonym lang="en">EDA1</Synonym>
+              <Synonym lang="en">HED</Synonym>
+              <Synonym lang="en">XHED</Synonym>
+              <Synonym lang="en">XLHED</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56945">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158813</Reference>
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+              <ExternalReference id="36999">
+                <Source>Genatlas</Source>
+                <Reference>EDA</Reference>
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+              <ExternalReference id="28757">
+                <Source>HGNC</Source>
+                <Reference>3157</Reference>
+              </ExternalReference>
+              <ExternalReference id="28756">
+                <Source>OMIM</Source>
+                <Reference>300451</Reference>
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+              <ExternalReference id="97206">
+                <Source>Reactome</Source>
+                <Reference>Q92838</Reference>
+              </ExternalReference>
+              <ExternalReference id="32921">
+                <Source>SwissProt</Source>
+                <Reference>Q92838</Reference>
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+                <GeneLocus>Xq13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22889853[PMID]</SourceOfValidation>
+          <Gene id="21837">
+            <Name lang="en">ectodysplasin A2 receptor</Name>
+            <Symbol>EDA2R</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EDA-A2R</Synonym>
+              <Synonym lang="en">EDAA2R</Synonym>
+              <Synonym lang="en">TNFRSF27</Synonym>
+              <Synonym lang="en">XEDAR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190499">
+                <Source>IUPHAR</Source>
+                <Reference>1896</Reference>
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+              <ExternalReference id="83653">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131080</Reference>
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+              <ExternalReference id="76929">
+                <Source>Genatlas</Source>
+                <Reference>EDA2R</Reference>
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+              <ExternalReference id="76927">
+                <Source>HGNC</Source>
+                <Reference>17756</Reference>
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+              <ExternalReference id="76928">
+                <Source>OMIM</Source>
+                <Reference>300276</Reference>
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+              <ExternalReference id="97336">
+                <Source>Reactome</Source>
+                <Reference>Q9HAV5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HAV5</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="17525">
+      <OrphaCode>163693</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163693</ExpertLink>
+      <Name lang="en">2p21 microdeletion syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>11524703[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 3 member 1</Name>
+            <Symbol>SLC3A1</Symbol>
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+              <Synonym lang="en">CSNU1</Synonym>
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+              <Synonym lang="en">NBAT</Synonym>
+              <Synonym lang="en">RBAT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138079</Reference>
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+              <ExternalReference id="36307">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="34029">
+                <Source>HGNC</Source>
+                <Reference>11025</Reference>
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+              <ExternalReference id="31348">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q07837</Reference>
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+              <ExternalReference id="33511">
+                <Source>SwissProt</Source>
+                <Reference>Q07837</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>889</Reference>
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+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11524703[PMID]</SourceOfValidation>
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+            <Name lang="en">prolyl endopeptidase like</Name>
+            <Symbol>PREPL</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>IUPHAR</Source>
+                <Reference>2870</Reference>
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+              <ExternalReference id="60110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138078</Reference>
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+                <Reference>30228</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11524703[PMID]</SourceOfValidation>
+          <Gene id="19495">
+            <Name lang="en">calmodulin-lysine N-methyltransferase</Name>
+            <Symbol>CAMKMT</Symbol>
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+              <Synonym lang="en">CLNMT</Synonym>
+              <Synonym lang="en">CaM KMT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143919</Reference>
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+              <ExternalReference id="49552">
+                <Source>Genatlas</Source>
+                <Reference>C2orf34</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26276</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="98087">
+                <Source>Reactome</Source>
+                <Reference>Q7Z624</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z624</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11524703[PMID]</SourceOfValidation>
+          <Gene id="19496">
+            <Name lang="en">protein phosphatase, Mg2+/Mn2+ dependent 1B</Name>
+            <Symbol>PPM1B</Symbol>
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+              <Synonym lang="en">PP2CBETA</Synonym>
+              <Synonym lang="en">PPC2BETAX</Synonym>
+              <Synonym lang="en">protein phosphatase 2C, beta isoform</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138032</Reference>
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+              <ExternalReference id="49557">
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+                <Reference>PPM1B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9276</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603770</Reference>
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+              <ExternalReference id="60112">
+                <Source>Reactome</Source>
+                <Reference>O75688</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75688</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>163690</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=163690</ExpertLink>
+      <Name lang="en">Hypotonia-cystinuria syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+            <Symbol>SLC3A1</Symbol>
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+              <Synonym lang="en">CSNU1</Synonym>
+              <Synonym lang="en">D2H</Synonym>
+              <Synonym lang="en">NBAT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138079</Reference>
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+              <ExternalReference id="36307">
+                <Source>Genatlas</Source>
+                <Reference>SLC3A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11025</Reference>
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+              <ExternalReference id="31348">
+                <Source>OMIM</Source>
+                <Reference>104614</Reference>
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+              <ExternalReference id="56962">
+                <Source>Reactome</Source>
+                <Reference>Q07837</Reference>
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+              <ExternalReference id="33511">
+                <Source>SwissProt</Source>
+                <Reference>Q07837</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>889</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>2870</Reference>
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+              <ExternalReference id="60110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138078</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>30228</Reference>
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+                <Reference>609557</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q4J6C6</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=337</ExpertLink>
+      <Name lang="en">Fibrodysplasia ossificans progressiva</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56967">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115170</Reference>
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+              <ExternalReference id="24800">
+                <Source>Genatlas</Source>
+                <Reference>ACVR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>171</Reference>
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+                <Reference>1785</Reference>
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+                <Source>OMIM</Source>
+                <Reference>102576</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q04771</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="207">
+      <OrphaCode>377</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=377</ExpertLink>
+      <Name lang="en">Gorlin syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>20301330[PMID]_19032739[PMID]</SourceOfValidation>
+          <Gene id="15164">
+            <Name lang="en">patched 1</Name>
+            <Symbol>PTCH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BCNS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185920</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9585</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601309</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25403219[PMID]_19533801[PMID]_22829011[PMID]</SourceOfValidation>
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+            <Name lang="en">SUFU negative regulator of hedgehog signaling</Name>
+            <Symbol>SUFU</Symbol>
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+              <Synonym lang="en">SUFUH</Synonym>
+              <Synonym lang="en">SUFUXL</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9UMX1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UMX1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107882</Reference>
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+                <Reference>SUFU</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117425</Reference>
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+                <Reference>PTCH2</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6C5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y6C5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Symbol>RRAS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Oncogene RRAS</Synonym>
+              <Synonym lang="en">R-Ras</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>CBL</Symbol>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56981">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132155</Reference>
+              </ExternalReference>
+              <ExternalReference id="35143">
+                <Source>Genatlas</Source>
+                <Reference>RAF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35146">
+                <Source>HGNC</Source>
+                <Reference>9829</Reference>
+              </ExternalReference>
+              <ExternalReference id="83038">
+                <Source>IUPHAR</Source>
+                <Reference>2184</Reference>
+              </ExternalReference>
+              <ExternalReference id="37602">
+                <Source>OMIM</Source>
+                <Reference>164760</Reference>
+              </ExternalReference>
+              <ExternalReference id="56982">
+                <Source>Reactome</Source>
+                <Reference>P04049</Reference>
+              </ExternalReference>
+              <ExternalReference id="35144">
+                <Source>SwissProt</Source>
+                <Reference>P04049</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25911">
+                <GeneLocus>3p25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19966803[PMID]</SourceOfValidation>
+          <Gene id="18962">
+            <Name lang="en">NRAS proto-oncogene, GTPase</Name>
+            <Symbol>NRAS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">N-ras</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="44185">
+                <Source>HGNC</Source>
+                <Reference>7989</Reference>
+              </ExternalReference>
+              <ExternalReference id="44186">
+                <Source>OMIM</Source>
+                <Reference>164790</Reference>
+              </ExternalReference>
+              <ExternalReference id="56972">
+                <Source>Reactome</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="44187">
+                <Source>SwissProt</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="56971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213281</Reference>
+              </ExternalReference>
+              <ExternalReference id="44184">
+                <Source>Genatlas</Source>
+                <Reference>NRAS</Reference>
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+              <ExternalReference id="190466">
+                <Source>IUPHAR</Source>
+                <Reference>2823</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23791108[PMID]</SourceOfValidation>
+          <Gene id="22243">
+            <Name lang="en">Ras like without CAAX 1</Name>
+            <Symbol>RIT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTP-binding protein Roc1</Synonym>
+              <Synonym lang="en">MGC125864</Synonym>
+              <Synonym lang="en">MGC125865</Synonym>
+              <Synonym lang="en">RIBB</Synonym>
+              <Synonym lang="en">ROC1</Synonym>
+              <Synonym lang="en">Ric-like, expressed in many tissues</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83923">
+                <Source>Reactome</Source>
+                <Reference>Q92963</Reference>
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+              <ExternalReference id="80576">
+                <Source>SwissProt</Source>
+                <Reference>Q92963</Reference>
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+              <ExternalReference id="83924">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143622</Reference>
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+              <ExternalReference id="80575">
+                <Source>Genatlas</Source>
+                <Reference>RIT1</Reference>
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+              <ExternalReference id="80573">
+                <Source>HGNC</Source>
+                <Reference>10023</Reference>
+              </ExternalReference>
+              <ExternalReference id="80574">
+                <Source>OMIM</Source>
+                <Reference>609591</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25795793[PMID]</SourceOfValidation>
+          <Gene id="22431">
+            <Name lang="en">leucine zipper like transcription regulator 1</Name>
+            <Symbol>LZTR1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BTBD29</Synonym>
+              <Synonym lang="en">LZTR-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="82309">
+                <Source>SwissProt</Source>
+                <Reference>Q8N653</Reference>
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+              <ExternalReference id="84065">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099949</Reference>
+              </ExternalReference>
+              <ExternalReference id="82308">
+                <Source>Genatlas</Source>
+                <Reference>LZTR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="82306">
+                <Source>HGNC</Source>
+                <Reference>6742</Reference>
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+              <ExternalReference id="82307">
+                <Source>OMIM</Source>
+                <Reference>600574</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25049390[PMID]</SourceOfValidation>
+          <Gene id="23010">
+            <Name lang="en">RAS p21 protein activator 2</Name>
+            <Symbol>RASA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GAP1M</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="94667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155903</Reference>
+              </ExternalReference>
+              <ExternalReference id="94665">
+                <Source>Genatlas</Source>
+                <Reference>RASA2</Reference>
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+              <ExternalReference id="94663">
+                <Source>HGNC</Source>
+                <Reference>9872</Reference>
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+              <ExternalReference id="94664">
+                <Source>OMIM</Source>
+                <Reference>601589</Reference>
+              </ExternalReference>
+              <ExternalReference id="97021">
+                <Source>Reactome</Source>
+                <Reference>Q15283</Reference>
+              </ExternalReference>
+              <ExternalReference id="94666">
+                <Source>SwissProt</Source>
+                <Reference>Q15283</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              <Locus id="20521">
+                <GeneLocus>3q23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25795793[PMID]</SourceOfValidation>
+          <Gene id="23280">
+            <Name lang="en">SOS Ras/Rho guanine nucleotide exchange factor 2</Name>
+            <Symbol>SOS2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100485</Reference>
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+              <ExternalReference id="95987">
+                <Source>Genatlas</Source>
+                <Reference>SOS2</Reference>
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+              <ExternalReference id="95985">
+                <Source>HGNC</Source>
+                <Reference>11188</Reference>
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+              <ExternalReference id="95986">
+                <Source>OMIM</Source>
+                <Reference>601247</Reference>
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+              <ExternalReference id="95989">
+                <Source>Reactome</Source>
+                <Reference>Q07890</Reference>
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+              <ExternalReference id="95988">
+                <Source>SwissProt</Source>
+                <Reference>Q07890</Reference>
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+                <GeneLocus>14q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="201">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=281</ExpertLink>
+      <Name lang="en">Monosomy 5p</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17200">
+            <Name lang="en">semaphorin 5A</Name>
+            <Symbol>SEMA5A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">semF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="36276">
+                <Source>Genatlas</Source>
+                <Reference>SEMA5A</Reference>
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+              <ExternalReference id="36277">
+                <Source>HGNC</Source>
+                <Reference>10736</Reference>
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+              <ExternalReference id="37573">
+                <Source>OMIM</Source>
+                <Reference>609297</Reference>
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+              <ExternalReference id="56960">
+                <Source>Reactome</Source>
+                <Reference>Q13591</Reference>
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+              <ExternalReference id="36278">
+                <Source>SwissProt</Source>
+                <Reference>Q13591</Reference>
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+              <ExternalReference id="56959">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112902</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17342">
+            <Name lang="en">catenin delta 2</Name>
+            <Symbol>CTNND2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GT24</Synonym>
+              <Synonym lang="en">NPRAP</Synonym>
+              <Synonym lang="en">neural plakophilin-related arm-repeat protein</Synonym>
+              <Synonym lang="en">neurojungin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56958">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169862</Reference>
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+              <ExternalReference id="36915">
+                <Source>Genatlas</Source>
+                <Reference>CTNND2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2516</Reference>
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+                <Reference>604275</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UQB3</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16224">
+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 3</Name>
+            <Symbol>HSD17B3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SDR12C2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 12C, member 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P37058</Reference>
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+              <ExternalReference id="56965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130948</Reference>
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+              <ExternalReference id="37485">
+                <Source>Genatlas</Source>
+                <Reference>HSD17B3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5212</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P37058</Reference>
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+                <GeneLocus>9q22.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Lesch-Nyhan syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16214">
+            <Name lang="en">hypoxanthine phosphoribosyltransferase 1</Name>
+            <Symbol>HPRT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HGPRT</Synonym>
+              <Synonym lang="en">Lesch-Nyhan syndrome</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56956">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165704</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5157</Reference>
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+                <Source>OMIM</Source>
+                <Reference>308000</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00492</Reference>
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+                <Reference>P00492</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>524</OrphaCode>
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+      <Name lang="en">Li-Fraumeni syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
+            <Symbol>CDKN2A</Symbol>
+            <SynonymList count="12">
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+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">CMM2</Synonym>
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+              <Synonym lang="en">MTS1</Synonym>
+              <Synonym lang="en">p14</Synonym>
+              <Synonym lang="en">p14ARF</Synonym>
+              <Synonym lang="en">p16</Synonym>
+              <Synonym lang="en">p16INK4a</Synonym>
+              <Synonym lang="en">p19</Synonym>
+              <Synonym lang="en">p19Arf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147889</Reference>
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+              <ExternalReference id="26459">
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+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>1787</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600160</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P42771</Reference>
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+                <Reference>P42771</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23884452[PMID]</SourceOfValidation>
+          <Gene id="21735">
+            <Name lang="en">MDM2 proto-oncogene</Name>
+            <Symbol>MDM2</Symbol>
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+              <Synonym lang="en">MGC5370</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000135679</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MDM2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6973</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q00987</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301488[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141510</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>191170</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <Gene id="15444">
+            <Name lang="en">checkpoint kinase 2</Name>
+            <Symbol>CHEK2</Symbol>
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+              <Synonym lang="en">CHK2</Synonym>
+              <Synonym lang="en">HuCds1</Synonym>
+              <Synonym lang="en">PP1425</Synonym>
+              <Synonym lang="en">bA444G7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1988</Reference>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Hereditary neuropathy with liability to pressure palsies</Name>
+      <DisorderType id="21401">
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">peripheral myelin protein 22</Name>
+            <Symbol>PMP22</Symbol>
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+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
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+                <Reference>PMP22</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">peripheral myelin protein 22</Name>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28236341[PMID]</SourceOfValidation>
+          <Gene id="15912">
+            <Name lang="en">endothelin receptor type B</Name>
+            <Symbol>EDNRB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ETB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P24530</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P24530</Reference>
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+              <ExternalReference id="57511">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136160</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="28774">
+                <Source>HGNC</Source>
+                <Reference>3180</Reference>
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+                <Reference>220</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>896</OrphaCode>
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+      <Name lang="en">Waardenburg syndrome type 3</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>PAX3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000135903</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8617</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P23760</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Townes-Brocks syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">spalt like transcription factor 1</Name>
+            <Symbol>SALL1</Symbol>
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+              <Synonym lang="en">Hsal1</Synonym>
+              <Synonym lang="en">ZNF794</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98049">
+                <Source>Reactome</Source>
+                <Reference>Q9NSC2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NSC2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103449</Reference>
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+                <Source>HGNC</Source>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>114208</Reference>
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+              <ExternalReference id="56989">
+                <Source>Reactome</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
+              <ExternalReference id="32362">
+                <Source>SwissProt</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26371">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14504341[PMID]_15037713[PMID]</SourceOfValidation>
+          <Gene id="16289">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 3</Name>
+            <Symbol>KCNE3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HOKPP</Synonym>
+              <Synonym lang="en">MiRP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56990">
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+                <Reference>ENSG00000175538</Reference>
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+              <ExternalReference id="30607">
+                <Source>Genatlas</Source>
+                <Reference>KCNE3</Reference>
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+              <ExternalReference id="30609">
+                <Source>HGNC</Source>
+                <Reference>6243</Reference>
+              </ExternalReference>
+              <ExternalReference id="30608">
+                <Source>OMIM</Source>
+                <Reference>604433</Reference>
+              </ExternalReference>
+              <ExternalReference id="98063">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6H6</Reference>
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+              <ExternalReference id="33354">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6H6</Reference>
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+                <GeneLocus>11q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="237">
+      <OrphaCode>107</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=107</ExpertLink>
+      <Name lang="en">BOR syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301554[PMID]</SourceOfValidation>
+          <Gene id="15295">
+            <Name lang="en">SIX homeobox 1</Name>
+            <Symbol>SIX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="25833">
+                <Source>Genatlas</Source>
+                <Reference>SIX1</Reference>
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+              <ExternalReference id="25835">
+                <Source>HGNC</Source>
+                <Reference>10887</Reference>
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+              <ExternalReference id="25834">
+                <Source>OMIM</Source>
+                <Reference>601205</Reference>
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+              <ExternalReference id="33853">
+                <Source>SwissProt</Source>
+                <Reference>Q15475</Reference>
+              </ExternalReference>
+              <ExternalReference id="143960">
+                <Source>Reactome</Source>
+                <Reference>Q15475</Reference>
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+              <ExternalReference id="57045">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126778</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>14q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301554[PMID]</SourceOfValidation>
+          <Gene id="16006">
+            <Name lang="en">EYA transcriptional coactivator and phosphatase 1</Name>
+            <Symbol>EYA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57044">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104313</Reference>
+              </ExternalReference>
+              <ExternalReference id="29237">
+                <Source>Genatlas</Source>
+                <Reference>EYA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29235">
+                <Source>HGNC</Source>
+                <Reference>3519</Reference>
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+              <ExternalReference id="29234">
+                <Source>OMIM</Source>
+                <Reference>601653</Reference>
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+              <ExternalReference id="97218">
+                <Source>Reactome</Source>
+                <Reference>Q99502</Reference>
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+              <ExternalReference id="33020">
+                <Source>SwissProt</Source>
+                <Reference>Q99502</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301554[PMID]</SourceOfValidation>
+          <Gene id="16793">
+            <Name lang="en">SIX homeobox 5</Name>
+            <Symbol>SIX5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57046">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177045</Reference>
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+              <ExternalReference id="34965">
+                <Source>Genatlas</Source>
+                <Reference>SIX5</Reference>
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+              <ExternalReference id="34962">
+                <Source>HGNC</Source>
+                <Reference>10891</Reference>
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+              <ExternalReference id="34964">
+                <Source>OMIM</Source>
+                <Reference>600963</Reference>
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+              <ExternalReference id="34963">
+                <Source>SwissProt</Source>
+                <Reference>Q8N196</Reference>
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+                <GeneLocus>19q13.32</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="236">
+      <OrphaCode>774</OrphaCode>
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+      <Name lang="en">Hereditary hemorrhagic telangiectasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301525[PMID]</SourceOfValidation>
+          <Gene id="15079">
+            <Name lang="en">activin A receptor like type 1</Name>
+            <Symbol>ACVRL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALK1</Synonym>
+              <Synonym lang="en">HHT</Synonym>
+              <Synonym lang="en">HHT2</Synonym>
+              <Synonym lang="en">activin receptor-like kinase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57040">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139567</Reference>
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+              <ExternalReference id="24802">
+                <Source>Genatlas</Source>
+                <Reference>ACVRL1</Reference>
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+              <ExternalReference id="24804">
+                <Source>HGNC</Source>
+                <Reference>175</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1784</Reference>
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+                <Reference>601284</Reference>
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+              <ExternalReference id="32357">
+                <Source>SwissProt</Source>
+                <Reference>P37023</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301525[PMID]</SourceOfValidation>
+          <Gene id="15524">
+            <Name lang="en">SMAD family member 4</Name>
+            <Symbol>SMAD4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13485</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301525[PMID]</SourceOfValidation>
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+            <Name lang="en">endoglin</Name>
+            <Symbol>ENG</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2895</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106991</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ENG</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Symbol>GDF2</Symbol>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="81717">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK05</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000263761</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
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+              <Synonym lang="en">CEK2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000068078</Reference>
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+                <Reference>FGFR3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">fibroblast growth factor receptor 2</Name>
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+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+              <Synonym lang="en">TK25</Synonym>
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+                <Reference>1809</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9585583[PMID]</SourceOfValidation>
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+            <Name lang="en">twist family bHLH transcription factor 1</Name>
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+              <Synonym lang="en">CRS1</Synonym>
+              <Synonym lang="en">H-twist</Synonym>
+              <Synonym lang="en">SCS</Synonym>
+              <Synonym lang="en">Saethre-Chotzen syndrome</Synonym>
+              <Synonym lang="en">bHLHa38</Synonym>
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+                <Reference>12428</Reference>
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+                <Reference>601622</Reference>
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+              <ExternalReference id="32648">
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+                <Reference>Q15672</Reference>
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+              <ExternalReference id="57039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122691</Reference>
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+                <Reference>TWIST1</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="233">
+      <OrphaCode>2869</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2869</ExpertLink>
+      <Name lang="en">Peutz-Jeghers syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9837816[PMID]_20581245[PMID]_20301443[PMID]</SourceOfValidation>
+          <Gene id="15565">
+            <Name lang="en">serine/threonine kinase 11</Name>
+            <Symbol>STK11</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LKB1</Synonym>
+              <Synonym lang="en">PJS</Synonym>
+              <Synonym lang="en">polarization-related protein LKB1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118046</Reference>
+              </ExternalReference>
+              <ExternalReference id="27136">
+                <Source>Genatlas</Source>
+                <Reference>STK11</Reference>
+              </ExternalReference>
+              <ExternalReference id="27138">
+                <Source>HGNC</Source>
+                <Reference>11389</Reference>
+              </ExternalReference>
+              <ExternalReference id="82827">
+                <Source>IUPHAR</Source>
+                <Reference>2212</Reference>
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+              <ExternalReference id="27137">
+                <Source>OMIM</Source>
+                <Reference>602216</Reference>
+              </ExternalReference>
+              <ExternalReference id="57036">
+                <Source>Reactome</Source>
+                <Reference>Q15831</Reference>
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+              <ExternalReference id="32536">
+                <Source>SwissProt</Source>
+                <Reference>Q15831</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="231">
+      <OrphaCode>862</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=862</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Hereditary essential tremor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19645064[PMID]_16809426[PMID]_16650084[PMID]</SourceOfValidation>
+          <Gene id="15890">
+            <Name lang="en">dopamine receptor D3</Name>
+            <Symbol>DRD3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57031">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151577</Reference>
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+              <ExternalReference id="37431">
+                <Source>Genatlas</Source>
+                <Reference>DRD3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3024</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>216</Reference>
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+                <Source>OMIM</Source>
+                <Reference>126451</Reference>
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+              <ExternalReference id="57032">
+                <Source>Reactome</Source>
+                <Reference>P35462</Reference>
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+              <ExternalReference id="32901">
+                <Source>SwissProt</Source>
+                <Reference>P35462</Reference>
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+                <GeneLocus>3q13.31</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22863194[PMID]_23825177[PMID]</SourceOfValidation>
+          <Gene id="17369">
+            <Name lang="en">FUS RNA binding protein</Name>
+            <Symbol>FUS</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FUS1</Synonym>
+              <Synonym lang="en">HNRNPP2</Synonym>
+              <Synonym lang="en">TLS</Synonym>
+              <Synonym lang="en">heterogeneous nuclear ribonucleoprotein P2</Synonym>
+              <Synonym lang="en">hnRNP-P2</Synonym>
+              <Synonym lang="en">translocated in liposarcoma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56796">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089280</Reference>
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+              <ExternalReference id="37075">
+                <Source>Genatlas</Source>
+                <Reference>FUS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4010</Reference>
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+                <Source>OMIM</Source>
+                <Reference>137070</Reference>
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+              <ExternalReference id="56797">
+                <Source>Reactome</Source>
+                <Reference>P35637</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35637</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22166413[PMID]</SourceOfValidation>
+          <Gene id="20672">
+            <Name lang="en">leucine rich repeat and Ig domain containing 1</Name>
+            <Symbol>LINGO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ14594</Synonym>
+              <Synonym lang="en">LERN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57033">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169783</Reference>
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+              <ExternalReference id="54919">
+                <Source>Genatlas</Source>
+                <Reference>LINGO1</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2882</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21205</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96FE5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96FE5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26188006[PMID]</SourceOfValidation>
+          <Gene id="23601">
+            <Name lang="en">teneurin transmembrane protein 4</Name>
+            <Symbol>TENM4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1302</Synonym>
+              <Synonym lang="en">TEN4</Synonym>
+              <Synonym lang="en">Ten-M4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149256</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q6N022</Reference>
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+          <Gene id="15367">
+            <Name lang="en">brain derived neurotrophic factor</Name>
+            <Symbol>BDNF</Symbol>
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+              <Synonym lang="en">neurotrophin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>WT1</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">paired box 6</Name>
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+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">peroxisomal biogenesis factor 11 beta</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131779</Reference>
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+              <Synonym lang="en">Zellweger syndrome</Synonym>
+              <Synonym lang="en">peroxin 2</Synonym>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
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+                <Source>SwissProt</Source>
+                <Reference>O43933</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9633">
+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16638">
+            <Name lang="en">peroxisomal biogenesis factor 10</Name>
+            <Symbol>PEX10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RNF69</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>O60683</Reference>
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+              <ExternalReference id="57023">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157911</Reference>
+              </ExternalReference>
+              <ExternalReference id="37559">
+                <Source>Genatlas</Source>
+                <Reference>PEX10</Reference>
+              </ExternalReference>
+              <ExternalReference id="32242">
+                <Source>HGNC</Source>
+                <Reference>8851</Reference>
+              </ExternalReference>
+              <ExternalReference id="32241">
+                <Source>OMIM</Source>
+                <Reference>602859</Reference>
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+              <ExternalReference id="33742">
+                <Source>SwissProt</Source>
+                <Reference>O60683</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16639">
+            <Name lang="en">peroxisomal biogenesis factor 12</Name>
+            <Symbol>PEX12</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108733</Reference>
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+              <ExternalReference id="32248">
+                <Source>Genatlas</Source>
+                <Reference>PEX12</Reference>
+              </ExternalReference>
+              <ExternalReference id="32246">
+                <Source>HGNC</Source>
+                <Reference>8854</Reference>
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+              <ExternalReference id="32245">
+                <Source>OMIM</Source>
+                <Reference>601758</Reference>
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+              <ExternalReference id="33743">
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+                <Reference>O00623</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16640">
+            <Name lang="en">peroxisomal biogenesis factor 13</Name>
+            <Symbol>PEX13</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>601789</Reference>
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+              <ExternalReference id="33744">
+                <Source>SwissProt</Source>
+                <Reference>Q92968</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92968</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162928</Reference>
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+              <ExternalReference id="37292">
+                <Source>Genatlas</Source>
+                <Reference>PEX13</Reference>
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+              <ExternalReference id="32251">
+                <Source>HGNC</Source>
+                <Reference>8855</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16641">
+            <Name lang="en">peroxisomal biogenesis factor 14</Name>
+            <Symbol>PEX14</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000142655</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PEX14</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8856</Reference>
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+                <Reference>601791</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75381</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75381</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16642">
+            <Name lang="en">peroxisomal biogenesis factor 16</Name>
+            <Symbol>PEX16</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000121680</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PEX16</Reference>
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+              <ExternalReference id="32261">
+                <Source>HGNC</Source>
+                <Reference>8857</Reference>
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+              <ExternalReference id="32260">
+                <Source>OMIM</Source>
+                <Reference>603360</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y5</Reference>
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+              <ExternalReference id="142885">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y5</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16643">
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+            <SynonymList count="6">
+              <Synonym lang="en">D1S2223E</Synonym>
+              <Synonym lang="en">HK33</Synonym>
+              <Synonym lang="en">PMP1</Synonym>
+              <Synonym lang="en">PMPI</Synonym>
+              <Synonym lang="en">PXMP1</Synonym>
+              <Synonym lang="en">housekeeping gene, 33kD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000162735</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9713</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="33747">
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+                <Reference>P40855</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
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+              <Synonym lang="en">FLJ20695</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143972">
+                <Source>Reactome</Source>
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+                <Reference>608666</Reference>
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+                <Reference>ENSG00000215193</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301621[PMID]</SourceOfValidation>
+          <Gene id="16645">
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+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">PTS1R</Synonym>
+              <Synonym lang="en">peroxisomal import receptor 5</Synonym>
+              <Synonym lang="en">peroxisomal targeting signal 1 receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000139197</Reference>
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+              <Synonym lang="en">PXAAA1</Synonym>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Symbol>CLCN7</Symbol>
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+              <Synonym lang="en">CLC7</Synonym>
+              <Synonym lang="en">ClC-7</Synonym>
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+              <Synonym lang="en">PPP1R63</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 63</Synonym>
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+      <Name lang="en">Abetalipoproteinemia</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>MTTP</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P55157</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21151">
+                <GeneLocus>4q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="249">
+      <OrphaCode>167</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=167</ExpertLink>
+      <Name lang="en">Chédiak-Higashi syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20368792[PMID]</SourceOfValidation>
+          <Gene id="16419">
+            <Name lang="en">lysosomal trafficking regulator</Name>
+            <Symbol>LYST</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CHS</Synonym>
+              <Synonym lang="en">Mauve</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57058">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143669</Reference>
+              </ExternalReference>
+              <ExternalReference id="36769">
+                <Source>Genatlas</Source>
+                <Reference>LYST</Reference>
+              </ExternalReference>
+              <ExternalReference id="31220">
+                <Source>HGNC</Source>
+                <Reference>1968</Reference>
+              </ExternalReference>
+              <ExternalReference id="31219">
+                <Source>OMIM</Source>
+                <Reference>606897</Reference>
+              </ExternalReference>
+              <ExternalReference id="33483">
+                <Source>SwissProt</Source>
+                <Reference>Q99698</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24191">
+                <GeneLocus>1q42.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="244">
+      <OrphaCode>207</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=207</ExpertLink>
+      <Name lang="en">Crouzon syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301628[PMID]</SourceOfValidation>
+          <Gene id="16664">
+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD332</Synonym>
+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066468</Reference>
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+              <ExternalReference id="33991">
+                <Source>Genatlas</Source>
+                <Reference>FGFR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="33993">
+                <Source>HGNC</Source>
+                <Reference>3689</Reference>
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+              <ExternalReference id="83025">
+                <Source>IUPHAR</Source>
+                <Reference>1809</Reference>
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+              <ExternalReference id="33992">
+                <Source>OMIM</Source>
+                <Reference>176943</Reference>
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+              <ExternalReference id="57038">
+                <Source>Reactome</Source>
+                <Reference>P21802</Reference>
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+              <ExternalReference id="33994">
+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23354439[PMID]</SourceOfValidation>
+          <Gene id="22034">
+            <Name lang="en">ETS2 repressor factor</Name>
+            <Symbol>ERF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PE-2</Synonym>
+              <Synonym lang="en">PE2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105722</Reference>
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+              <ExternalReference id="78750">
+                <Source>Genatlas</Source>
+                <Reference>ERF</Reference>
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+              <ExternalReference id="78748">
+                <Source>HGNC</Source>
+                <Reference>3444</Reference>
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+              <ExternalReference id="78749">
+                <Source>OMIM</Source>
+                <Reference>611888</Reference>
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+              <ExternalReference id="83786">
+                <Source>Reactome</Source>
+                <Reference>P50548</Reference>
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+              <ExternalReference id="78751">
+                <Source>SwissProt</Source>
+                <Reference>P50548</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="243">
+      <OrphaCode>201</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=201</ExpertLink>
+      <Name lang="en">Cowden syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
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+            <SynonymList count="4">
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+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193560">
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+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28011713[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q68DE3</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23246288[PMID]</SourceOfValidation>
+          <Gene id="15093">
+            <Name lang="en">phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha</Name>
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+              <Synonym lang="en">PI3K</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="15262">
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+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] iron-sulfur subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">succinate dehydrogenase complex subunit D</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">succinate dehydrgenase cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrogenase cytochrome b560 subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">CDAII</Synonym>
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+                <Reference>ENSG00000101310</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">AKT serine/threonine kinase 1</Name>
+            <Symbol>AKT1</Symbol>
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+              <Synonym lang="en">PRKBA</Synonym>
+              <Synonym lang="en">RAC</Synonym>
+              <Synonym lang="en">RAC-alpha</Synonym>
+              <Synonym lang="en">protein kinase B</Synonym>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21177507[PMID]</SourceOfValidation>
+          <Gene id="21874">
+            <Name lang="en">killin, p53 regulated DNA replication inhibitor</Name>
+            <Symbol>KLLN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">killin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83674">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000227268</Reference>
+              </ExternalReference>
+              <ExternalReference id="98045">
+                <Source>Genatlas</Source>
+                <Reference>KLLN</Reference>
+              </ExternalReference>
+              <ExternalReference id="77144">
+                <Source>HGNC</Source>
+                <Reference>37212</Reference>
+              </ExternalReference>
+              <ExternalReference id="77145">
+                <Source>OMIM</Source>
+                <Reference>612105</Reference>
+              </ExternalReference>
+              <ExternalReference id="77146">
+                <Source>SwissProt</Source>
+                <Reference>B2CW77</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17701">
+                <GeneLocus>10q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="240">
+      <OrphaCode>192</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=192</ExpertLink>
+      <Name lang="en">Coffin-Lowry syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301520[PMID]</SourceOfValidation>
+          <Gene id="15231">
+            <Name lang="en">ribosomal protein S6 kinase A3</Name>
+            <Symbol>RPS6KA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HU-3</Synonym>
+              <Synonym lang="en">RSK</Synonym>
+              <Synonym lang="en">RSK2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="25527">
+                <Source>HGNC</Source>
+                <Reference>10432</Reference>
+              </ExternalReference>
+              <ExternalReference id="82764">
+                <Source>IUPHAR</Source>
+                <Reference>1528</Reference>
+              </ExternalReference>
+              <ExternalReference id="25526">
+                <Source>OMIM</Source>
+                <Reference>300075</Reference>
+              </ExternalReference>
+              <ExternalReference id="57049">
+                <Source>Reactome</Source>
+                <Reference>P51812</Reference>
+              </ExternalReference>
+              <ExternalReference id="33789">
+                <Source>SwissProt</Source>
+                <Reference>P51812</Reference>
+              </ExternalReference>
+              <ExternalReference id="57048">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177189</Reference>
+              </ExternalReference>
+              <ExternalReference id="25529">
+                <Source>Genatlas</Source>
+                <Reference>RPS6KA3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25813">
+                <GeneLocus>Xp22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17874">
+      <OrphaCode>169808</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169808</ExpertLink>
+      <Name lang="en">Mild hemophilia A</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301578[PMID]</SourceOfValidation>
+          <Gene id="16016">
+            <Name lang="en">coagulation factor VIII</Name>
+            <Symbol>F8</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DXS1253E</Synonym>
+              <Synonym lang="en">FVIII</Synonym>
+              <Synonym lang="en">Factor VIIIF8B</Synonym>
+              <Synonym lang="en">HEMA</Synonym>
+              <Synonym lang="en">hemophilia A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60224">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185010</Reference>
+              </ExternalReference>
+              <ExternalReference id="29287">
+                <Source>Genatlas</Source>
+                <Reference>F8</Reference>
+              </ExternalReference>
+              <ExternalReference id="29285">
+                <Source>HGNC</Source>
+                <Reference>3546</Reference>
+              </ExternalReference>
+              <ExternalReference id="82912">
+                <Source>IUPHAR</Source>
+                <Reference>2607</Reference>
+              </ExternalReference>
+              <ExternalReference id="51388">
+                <Source>OMIM</Source>
+                <Reference>300841</Reference>
+              </ExternalReference>
+              <ExternalReference id="60225">
+                <Source>Reactome</Source>
+                <Reference>P00451</Reference>
+              </ExternalReference>
+              <ExternalReference id="33030">
+                <Source>SwissProt</Source>
+                <Reference>P00451</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8479">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17872">
+      <OrphaCode>169802</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169802</ExpertLink>
+      <Name lang="en">Severe hemophilia A</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301578[PMID]</SourceOfValidation>
+          <Gene id="16016">
+            <Name lang="en">coagulation factor VIII</Name>
+            <Symbol>F8</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DXS1253E</Synonym>
+              <Synonym lang="en">FVIII</Synonym>
+              <Synonym lang="en">Factor VIIIF8B</Synonym>
+              <Synonym lang="en">HEMA</Synonym>
+              <Synonym lang="en">hemophilia A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60224">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185010</Reference>
+              </ExternalReference>
+              <ExternalReference id="29287">
+                <Source>Genatlas</Source>
+                <Reference>F8</Reference>
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+              <ExternalReference id="29285">
+                <Source>HGNC</Source>
+                <Reference>3546</Reference>
+              </ExternalReference>
+              <ExternalReference id="82912">
+                <Source>IUPHAR</Source>
+                <Reference>2607</Reference>
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+              <ExternalReference id="51388">
+                <Source>OMIM</Source>
+                <Reference>300841</Reference>
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+              <ExternalReference id="60225">
+                <Source>Reactome</Source>
+                <Reference>P00451</Reference>
+              </ExternalReference>
+              <ExternalReference id="33030">
+                <Source>SwissProt</Source>
+                <Reference>P00451</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8479">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17873">
+      <OrphaCode>169805</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169805</ExpertLink>
+      <Name lang="en">Moderate hemophilia A</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301578[PMID]</SourceOfValidation>
+          <Gene id="16016">
+            <Name lang="en">coagulation factor VIII</Name>
+            <Symbol>F8</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DXS1253E</Synonym>
+              <Synonym lang="en">FVIII</Synonym>
+              <Synonym lang="en">Factor VIIIF8B</Synonym>
+              <Synonym lang="en">HEMA</Synonym>
+              <Synonym lang="en">hemophilia A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60224">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185010</Reference>
+              </ExternalReference>
+              <ExternalReference id="29287">
+                <Source>Genatlas</Source>
+                <Reference>F8</Reference>
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+              <ExternalReference id="29285">
+                <Source>HGNC</Source>
+                <Reference>3546</Reference>
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+              <ExternalReference id="82912">
+                <Source>IUPHAR</Source>
+                <Reference>2607</Reference>
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+              <ExternalReference id="51388">
+                <Source>OMIM</Source>
+                <Reference>300841</Reference>
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+              <ExternalReference id="60225">
+                <Source>Reactome</Source>
+                <Reference>P00451</Reference>
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+              <ExternalReference id="33030">
+                <Source>SwissProt</Source>
+                <Reference>P00451</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="279">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=562</ExpertLink>
+      <Name lang="en">McCune-Albright syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>1594625[PMID]_1944469[PMID]</SourceOfValidation>
+          <Gene id="16147">
+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">G protein subunit alpha S</Synonym>
+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82607">
+                <Source>SwissProt</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+                <Reference>GNAS</Reference>
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+                <Reference>4392</Reference>
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+                <Reference>139320</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P63092</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95467</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="278">
+      <OrphaCode>565</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=565</ExpertLink>
+      <Name lang="en">Menkes disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301586[PMID]</SourceOfValidation>
+          <Gene id="15329">
+            <Name lang="en">ATPase copper transporting alpha</Name>
+            <Symbol>ATP7A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">copper pump 1</Synonym>
+              <Synonym lang="en">copper-transporting ATPase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193549">
+                <Source>IUPHAR</Source>
+                <Reference>852</Reference>
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+              <ExternalReference id="57097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165240</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATP7A</Reference>
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+                <Reference>300011</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Celiac disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
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+                <Reference>ENSG00000196126</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P01911</Reference>
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+          <Gene id="16829">
+            <Name lang="en">major histocompatibility complex, class II, DQ alpha 1</Name>
+            <Symbol>HLA-DQA1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196735</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>4942</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+          <SourceOfValidation/>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
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+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179344</Reference>
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+                <Reference>HLA-DQB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
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+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="283">
+      <OrphaCode>474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=474</ExpertLink>
+      <Name lang="en">Jeune syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="10">
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+            <Name lang="en">dynein cytoplasmic 2 light intermediate chain 1</Name>
+            <Symbol>DYNC2LI1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CGI-60</Synonym>
+              <Synonym lang="en">D2LIC</Synonym>
+              <Synonym lang="en">DKFZP564A033</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>DYNC2LI1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TCX1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TCX1</Reference>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">intraflagellar transport 80</Name>
+            <Symbol>IFT80</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23456818[PMID]_23339108[PMID]</SourceOfValidation>
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+            <Name lang="en">dynein cytoplasmic 2 heavy chain 1</Name>
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+              <Synonym lang="en">DHC1b</Synonym>
+              <Synonym lang="en">DHC2</Synonym>
+              <Synonym lang="en">DYH1B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>HGNC</Source>
+                <Reference>9360</Reference>
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+                <Source>OMIM</Source>
+                <Reference>170280</Reference>
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+              <ExternalReference id="33247">
+                <Source>SwissProt</Source>
+                <Reference>P14222</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11179007[PMID]</SourceOfValidation>
+          <Gene id="15567">
+            <Name lang="en">syntaxin 11</Name>
+            <Symbol>STX11</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135604</Reference>
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+              <ExternalReference id="27146">
+                <Source>Genatlas</Source>
+                <Reference>STX11</Reference>
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+              <ExternalReference id="27148">
+                <Source>HGNC</Source>
+                <Reference>11429</Reference>
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+              <ExternalReference id="27147">
+                <Source>OMIM</Source>
+                <Reference>605014</Reference>
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+              <ExternalReference id="32538">
+                <Source>SwissProt</Source>
+                <Reference>O75558</Reference>
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+              <ExternalReference id="143016">
+                <Source>Reactome</Source>
+                <Reference>O75558</Reference>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11179007[PMID]</SourceOfValidation>
+          <Gene id="15694">
+            <Name lang="en">unc-13 homolog D</Name>
+            <Symbol>UNC13D</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Munc13-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000092929</Reference>
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+              <ExternalReference id="27752">
+                <Source>Genatlas</Source>
+                <Reference>UNC13D</Reference>
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+              <ExternalReference id="27750">
+                <Source>HGNC</Source>
+                <Reference>23147</Reference>
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+              <ExternalReference id="27749">
+                <Source>OMIM</Source>
+                <Reference>608897</Reference>
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+              <ExternalReference id="32666">
+                <Source>SwissProt</Source>
+                <Reference>Q70J99</Reference>
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+              <ExternalReference id="126336">
+                <Source>Reactome</Source>
+                <Reference>Q70J99</Reference>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11179007[PMID]</SourceOfValidation>
+          <Gene id="19047">
+            <Name lang="en">syntaxin binding protein 2</Name>
+            <Symbol>STXBP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Hunc18b</Synonym>
+              <Synonym lang="en">MUNC18-2</Synonym>
+              <Synonym lang="en">UNC18B</Synonym>
+              <Synonym lang="en">Unc18-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="126392">
+                <Source>Reactome</Source>
+                <Reference>Q15833</Reference>
+              </ExternalReference>
+              <ExternalReference id="57117">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076944</Reference>
+              </ExternalReference>
+              <ExternalReference id="45319">
+                <Source>Genatlas</Source>
+                <Reference>STXBP2</Reference>
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+              <ExternalReference id="45320">
+                <Source>HGNC</Source>
+                <Reference>11445</Reference>
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+              <ExternalReference id="45321">
+                <Source>OMIM</Source>
+                <Reference>601717</Reference>
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+              <ExternalReference id="45322">
+                <Source>SwissProt</Source>
+                <Reference>Q15833</Reference>
+              </ExternalReference>
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+                <GeneLocus>19p13.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="281">
+      <OrphaCode>568</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=568</ExpertLink>
+      <Name lang="en">Microphthalmia, Lenz type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301694[PMID]_15004558[PMID]</SourceOfValidation>
+          <Gene id="15364">
+            <Name lang="en">BCL6 corepressor</Name>
+            <Symbol>BCOR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL-6 coreceptor</Synonym>
+              <Synonym lang="en">BCL6 interacting corepressor</Synonym>
+              <Synonym lang="en">FLJ20285</Synonym>
+              <Synonym lang="en">KIAA1575</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="143981">
+                <Source>Reactome</Source>
+                <Reference>Q6W2J9</Reference>
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+                <Reference>BCOR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20893</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300485</Reference>
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+              <ExternalReference id="33921">
+                <Source>SwissProt</Source>
+                <Reference>Q6W2J9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183337</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24431331[PMID]</SourceOfValidation>
+          <Gene id="20550">
+            <Name lang="en">N-alpha-acetyltransferase 10, NatA catalytic subunit</Name>
+            <Symbol>NAA10</Symbol>
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+              <Synonym lang="en">DXS707</Synonym>
+              <Synonym lang="en">TE2</Synonym>
+              <Synonym lang="en">arrest defective protein 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000102030</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ARD1A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18704</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P41227</Reference>
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+              <ExternalReference id="143444">
+                <Source>Reactome</Source>
+                <Reference>P41227</Reference>
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+                <GeneLocus>Xq28</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">thioredoxin domain containing 15</Name>
+            <Symbol>TXNDC15</Symbol>
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+              <Synonym lang="en">2310047H23Rik</Synonym>
+              <Synonym lang="en">FLJ22625</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113621</Reference>
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+                <Source>OMIM</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179029</Reference>
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+            <Name lang="en">tectonic family member 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">transmembrane protein 237</Name>
+            <Symbol>TMEM237</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+          <Gene id="15227">
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">Joubert syndrome 5</Synonym>
+              <Synonym lang="en">KIAA0373</Synonym>
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+              <Synonym lang="en">Meckel syndrome, type 4</Synonym>
+              <Synonym lang="en">NPHP6</Synonym>
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+              <Synonym lang="en">POC3 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN6</Synonym>
+              <Synonym lang="en">cancer/testis antigen 87</Synonym>
+              <Synonym lang="en">nephrocystin-6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198707</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29021</Reference>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110233[PMID]_19466712[PMID]_17389183[PMID]</SourceOfValidation>
+          <Gene id="15629">
+            <Name lang="en">transmembrane protein 67</Name>
+            <Symbol>TMEM67</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JBTS6</Synonym>
+              <Synonym lang="en">MGC26979</Synonym>
+              <Synonym lang="en">Meckelin</Synonym>
+              <Synonym lang="en">NPHP11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164953</Reference>
+              </ExternalReference>
+              <ExternalReference id="27443">
+                <Source>Genatlas</Source>
+                <Reference>TMEM67</Reference>
+              </ExternalReference>
+              <ExternalReference id="27445">
+                <Source>HGNC</Source>
+                <Reference>28396</Reference>
+              </ExternalReference>
+              <ExternalReference id="27444">
+                <Source>OMIM</Source>
+                <Reference>609884</Reference>
+              </ExternalReference>
+              <ExternalReference id="97187">
+                <Source>Reactome</Source>
+                <Reference>Q5HYA8</Reference>
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+              <ExternalReference id="32601">
+                <Source>SwissProt</Source>
+                <Reference>Q5HYA8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16621">
+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110233[PMID]_19466712[PMID]_17389183[PMID]</SourceOfValidation>
+          <Gene id="16405">
+            <Name lang="en">MKS transition zone complex subunit 1</Name>
+            <Symbol>MKS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BBS13</Synonym>
+              <Synonym lang="en">FLJ20345</Synonym>
+              <Synonym lang="en">POC12</Synonym>
+              <Synonym lang="en">POC12 centriolar protein homolog (Chlamydomonas)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57106">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011143</Reference>
+              </ExternalReference>
+              <ExternalReference id="31157">
+                <Source>Genatlas</Source>
+                <Reference>MKS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31155">
+                <Source>HGNC</Source>
+                <Reference>7121</Reference>
+              </ExternalReference>
+              <ExternalReference id="31154">
+                <Source>OMIM</Source>
+                <Reference>609883</Reference>
+              </ExternalReference>
+              <ExternalReference id="97234">
+                <Source>Reactome</Source>
+                <Reference>Q9NXB0</Reference>
+              </ExternalReference>
+              <ExternalReference id="33469">
+                <Source>SwissProt</Source>
+                <Reference>Q9NXB0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20529">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110233[PMID]_17558409[PMID]</SourceOfValidation>
+          <Gene id="16985">
+            <Name lang="en">RPGRIP1 like</Name>
+            <Symbol>RPGRIP1L</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">CORS3</Synonym>
+              <Synonym lang="en">FTM</Synonym>
+              <Synonym lang="en">JBTS7</Synonym>
+              <Synonym lang="en">KIAA1005</Synonym>
+              <Synonym lang="en">MKS5</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 5</Synonym>
+              <Synonym lang="en">NPHP8</Synonym>
+              <Synonym lang="en">PPP1R134</Synonym>
+              <Synonym lang="en">fantom homolog</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 134</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57107">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103494</Reference>
+              </ExternalReference>
+              <ExternalReference id="36971">
+                <Source>Genatlas</Source>
+                <Reference>RPGRIP1L</Reference>
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+              <ExternalReference id="36972">
+                <Source>HGNC</Source>
+                <Reference>29168</Reference>
+              </ExternalReference>
+              <ExternalReference id="35913">
+                <Source>OMIM</Source>
+                <Reference>610937</Reference>
+              </ExternalReference>
+              <ExternalReference id="97252">
+                <Source>Reactome</Source>
+                <Reference>Q68CZ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35912">
+                <Source>SwissProt</Source>
+                <Reference>Q68CZ1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16751">
+                <GeneLocus>16q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110233[PMID]_19466712[PMID]</SourceOfValidation>
+          <Gene id="17353">
+            <Name lang="en">coiled-coil and C2 domain containing 2A</Name>
+            <Symbol>CC2D2A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JBTS9</Synonym>
+              <Synonym lang="en">KIAA1345</Synonym>
+              <Synonym lang="en">MKS6</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97259">
+                <Source>Reactome</Source>
+                <Reference>Q9P2K1</Reference>
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+              <ExternalReference id="36976">
+                <Source>SwissProt</Source>
+                <Reference>Q9P2K1</Reference>
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+              <ExternalReference id="57105">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048342</Reference>
+              </ExternalReference>
+              <ExternalReference id="36974">
+                <Source>Genatlas</Source>
+                <Reference>CC2D2A</Reference>
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+              <ExternalReference id="36975">
+                <Source>HGNC</Source>
+                <Reference>29253</Reference>
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+              <ExternalReference id="37588">
+                <Source>OMIM</Source>
+                <Reference>612013</Reference>
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+              <Locus id="23059">
+                <GeneLocus>4p15.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110233[PMID]_20512146[PMID]</SourceOfValidation>
+          <Gene id="18961">
+            <Name lang="en">transmembrane protein 216</Name>
+            <Symbol>TMEM216</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HSPC244</Synonym>
+              <Synonym lang="en">JBTS2</Synonym>
+              <Synonym lang="en">MGC13379</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187049</Reference>
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+              <ExternalReference id="44179">
+                <Source>Genatlas</Source>
+                <Reference>TMEM216</Reference>
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+              <ExternalReference id="44180">
+                <Source>HGNC</Source>
+                <Reference>25018</Reference>
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+              <ExternalReference id="44181">
+                <Source>OMIM</Source>
+                <Reference>613277</Reference>
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+              <ExternalReference id="97287">
+                <Source>Reactome</Source>
+                <Reference>Q9P0N5</Reference>
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+              <ExternalReference id="44182">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0N5</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11q13.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22883145[PMID]</SourceOfValidation>
+          <Gene id="21406">
+            <Name lang="en">tectonic family member 3</Name>
+            <Symbol>TCTN3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZP564D116</Synonym>
+              <Synonym lang="en">JBTS18</Synonym>
+              <Synonym lang="en">TECT3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119977</Reference>
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+              <ExternalReference id="70792">
+                <Source>Genatlas</Source>
+                <Reference>TCTN3</Reference>
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+              <ExternalReference id="70790">
+                <Source>HGNC</Source>
+                <Reference>24519</Reference>
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+              <ExternalReference id="70791">
+                <Source>OMIM</Source>
+                <Reference>613847</Reference>
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+              <ExternalReference id="97331">
+                <Source>Reactome</Source>
+                <Reference>Q6NUS6</Reference>
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+              <ExternalReference id="70793">
+                <Source>SwissProt</Source>
+                <Reference>Q6NUS6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21462283[PMID]</SourceOfValidation>
+          <Gene id="19840">
+            <Name lang="en">tectonic family member 2</Name>
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+              <Synonym lang="en">Meckel syndrome, type 8</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168778</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>25774</Reference>
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+              <ExternalReference id="50819">
+                <Source>OMIM</Source>
+                <Reference>613846</Reference>
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+              <ExternalReference id="97301">
+                <Source>Reactome</Source>
+                <Reference>Q96GX1</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21493627[PMID]</SourceOfValidation>
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+            <Name lang="en">B9 domain containing 1</Name>
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+              <Synonym lang="en">endothelial precursor protein B9</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>24123</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+          <Gene id="22594">
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>289</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=289</ExpertLink>
+      <Name lang="en">Ellis Van Creveld syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+            <Name lang="en">dynein cytoplasmic 2 light intermediate chain 1</Name>
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+              <Synonym lang="en">D2LIC</Synonym>
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+              <Synonym lang="en">LIC3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>24595</Reference>
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+              <ExternalReference id="134668">
+                <Source>OMIM</Source>
+                <Reference>617083</Reference>
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+              <ExternalReference id="134669">
+                <Source>Genatlas</Source>
+                <Reference>DYNC2LI1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TCX1</Reference>
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+              <ExternalReference id="134671">
+                <Source>Reactome</Source>
+                <Reference>Q8TCX1</Reference>
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+              <ExternalReference id="134672">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138036</Reference>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28973407[PMID]</SourceOfValidation>
+          <Gene id="26044">
+            <Name lang="en">GLI family zinc finger 1</Name>
+            <Symbol>GLI1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="151235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111087</Reference>
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+              <ExternalReference id="151236">
+                <Source>SwissProt</Source>
+                <Reference>P08151</Reference>
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+              <ExternalReference id="151237">
+                <Source>OMIM</Source>
+                <Reference>165220</Reference>
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+              <ExternalReference id="151239">
+                <Source>Reactome</Source>
+                <Reference>P08151</Reference>
+              </ExternalReference>
+              <ExternalReference id="151234">
+                <Source>HGNC</Source>
+                <Reference>4317</Reference>
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+              <ExternalReference id="151238">
+                <Source>Genatlas</Source>
+                <Reference>GLI1</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]</SourceOfValidation>
+          <Gene id="16001">
+            <Name lang="en">EvC ciliary complex subunit 1</Name>
+            <Symbol>EVC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DWF-1</Synonym>
+              <Synonym lang="en">EVC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072840</Reference>
+              </ExternalReference>
+              <ExternalReference id="29214">
+                <Source>Genatlas</Source>
+                <Reference>EVC</Reference>
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+              <ExternalReference id="29212">
+                <Source>HGNC</Source>
+                <Reference>3497</Reference>
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+              <ExternalReference id="29211">
+                <Source>OMIM</Source>
+                <Reference>604831</Reference>
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+              <ExternalReference id="97216">
+                <Source>Reactome</Source>
+                <Reference>P57679</Reference>
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+              <ExternalReference id="33015">
+                <Source>SwissProt</Source>
+                <Reference>P57679</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4p16.2</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]</SourceOfValidation>
+          <Gene id="16002">
+            <Name lang="en">EvC ciliary complex subunit 2</Name>
+            <Symbol>EVC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LBN</Synonym>
+              <Synonym lang="en">limbin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173040</Reference>
+              </ExternalReference>
+              <ExternalReference id="36783">
+                <Source>Genatlas</Source>
+                <Reference>EVC2</Reference>
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+              <ExternalReference id="29217">
+                <Source>HGNC</Source>
+                <Reference>19747</Reference>
+              </ExternalReference>
+              <ExternalReference id="29216">
+                <Source>OMIM</Source>
+                <Reference>607261</Reference>
+              </ExternalReference>
+              <ExternalReference id="97217">
+                <Source>Reactome</Source>
+                <Reference>Q86UK5</Reference>
+              </ExternalReference>
+              <ExternalReference id="33016">
+                <Source>SwissProt</Source>
+                <Reference>Q86UK5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16681">
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+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33058759[PMID]</SourceOfValidation>
+          <Gene id="22913">
+            <Name lang="en">protein kinase cAMP-activated catalytic subunit alpha</Name>
+            <Symbol>PRKACA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKACa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="91639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072062</Reference>
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+              <ExternalReference id="90480">
+                <Source>Genatlas</Source>
+                <Reference>PRKACA</Reference>
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+              <ExternalReference id="90478">
+                <Source>HGNC</Source>
+                <Reference>9380</Reference>
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+              <ExternalReference id="91640">
+                <Source>IUPHAR</Source>
+                <Reference>1476</Reference>
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+              <ExternalReference id="90479">
+                <Source>OMIM</Source>
+                <Reference>601639</Reference>
+              </ExternalReference>
+              <ExternalReference id="91638">
+                <Source>Reactome</Source>
+                <Reference>P17612</Reference>
+              </ExternalReference>
+              <ExternalReference id="90481">
+                <Source>SwissProt</Source>
+                <Reference>P17612</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66811">
+                <GeneLocus>19p13.12</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33058759[PMID]</SourceOfValidation>
+          <Gene id="31549">
+            <Name lang="en">protein kinase cAMP-activated catalytic subunit beta</Name>
+            <Symbol>PRKACB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="209078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142875</Reference>
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+              <ExternalReference id="209079">
+                <Source>OMIM</Source>
+                <Reference>176892</Reference>
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+              <ExternalReference id="209080">
+                <Source>IUPHAR</Source>
+                <Reference>1477</Reference>
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+              <ExternalReference id="209081">
+                <Source>SwissProt</Source>
+                <Reference>P22694</Reference>
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+              <ExternalReference id="207747">
+                <Source>HGNC</Source>
+                <Reference>9381</Reference>
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+            <LocusList count="1">
+              <Locus id="88875">
+                <GeneLocus>1p31.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="284">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=258</ExpertLink>
+      <Name lang="en">Laminin subunit alpha 2-related congenital muscular dystrophy</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24223650[PMID]_22675738[PMID]</SourceOfValidation>
+          <Gene id="16332">
+            <Name lang="en">laminin subunit alpha 2</Name>
+            <Symbol>LAMA2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">congenital muscular dystrophy</Synonym>
+              <Synonym lang="en">merosin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="30811">
+                <Source>OMIM</Source>
+                <Reference>156225</Reference>
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+              <ExternalReference id="57124">
+                <Source>Reactome</Source>
+                <Reference>P24043</Reference>
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+              <ExternalReference id="33397">
+                <Source>SwissProt</Source>
+                <Reference>P24043</Reference>
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+              <ExternalReference id="57123">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196569</Reference>
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+              <ExternalReference id="30810">
+                <Source>Genatlas</Source>
+                <Reference>LAMA2</Reference>
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+              <ExternalReference id="30812">
+                <Source>HGNC</Source>
+                <Reference>6482</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="257">
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+      <Name lang="en">Partial chromosome Y deletion</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="9">
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+          <Gene id="29288">
+            <Name lang="en">azoospermia factor 1</Name>
+            <Symbol>AZF1</Symbol>
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+              <Synonym lang="en">AZFa</Synonym>
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+              <ExternalReference id="189474">
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+            <LocusList count="0">
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301513[PMID]_10581029[PMID]_22537385[PMID]_20671934[PMID]</SourceOfValidation>
+          <Gene id="15703">
+            <Name lang="en">ubiquitin specific peptidase 9 Y-linked</Name>
+            <Symbol>USP9Y</Symbol>
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+              <Synonym lang="en">DFFRY</Synonym>
+              <Synonym lang="en">azoospermia factor A</Synonym>
+              <Synonym lang="en">fat facets-like homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114374</Reference>
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+              <ExternalReference id="36712">
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+                <Source>HGNC</Source>
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+                <Reference>O00507</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">deleted in azoospermia 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">deleted in azoospermia 2</Name>
+            <Symbol>DAZ2</Symbol>
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+              <Synonym lang="en">MGC126442</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">deleted in azoospermia 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20671934[PMID]_14639527[PMID]</SourceOfValidation>
+          <Gene id="15849">
+            <Name lang="en">deleted in azoospermia 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205916</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DAZ4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15966</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86SG3</Reference>
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+                <Source>OMIM</Source>
+                <Reference>400048</Reference>
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+                <GeneLocus>Yq11.23</GeneLocus>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22537385[PMID]_10767340[PMID]_20671934[PMID]_20301513[PMID]</SourceOfValidation>
+          <Gene id="17717">
+            <Name lang="en">DEAD-box helicase 3 Y-linked</Name>
+            <Symbol>DDX3Y</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57064">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067048</Reference>
+              </ExternalReference>
+              <ExternalReference id="39108">
+                <Source>Genatlas</Source>
+                <Reference>DDX3Y</Reference>
+              </ExternalReference>
+              <ExternalReference id="39109">
+                <Source>HGNC</Source>
+                <Reference>2699</Reference>
+              </ExternalReference>
+              <ExternalReference id="39110">
+                <Source>OMIM</Source>
+                <Reference>400010</Reference>
+              </ExternalReference>
+              <ExternalReference id="39111">
+                <Source>SwissProt</Source>
+                <Reference>O15523</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26137">
+                <GeneLocus>Yq11.221</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12525536[PMID]_20671934[PMID]</SourceOfValidation>
+          <Gene id="17752">
+            <Name lang="en">RNA binding motif protein Y-linked family 1 member A1</Name>
+            <Symbol>RBMY1A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">YRRM1</Synonym>
+              <Synonym lang="en">YRRM2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143075">
+                <Source>Reactome</Source>
+                <Reference>P0DJD3</Reference>
+              </ExternalReference>
+              <ExternalReference id="57069">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234414</Reference>
+              </ExternalReference>
+              <ExternalReference id="39514">
+                <Source>Genatlas</Source>
+                <Reference>RBMY1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39515">
+                <Source>HGNC</Source>
+                <Reference>9912</Reference>
+              </ExternalReference>
+              <ExternalReference id="39516">
+                <Source>OMIM</Source>
+                <Reference>400006</Reference>
+              </ExternalReference>
+              <ExternalReference id="82616">
+                <Source>SwissProt</Source>
+                <Reference>P0DJD3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37867">
+                <GeneLocus>Yq11.223</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23307928[PMID]</SourceOfValidation>
+          <Gene id="20671">
+            <Name lang="en">testis specific protein Y-linked 1</Name>
+            <Symbol>TSPY1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT78</Synonym>
+              <Synonym lang="en">cancer/testis antigen 78</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143839">
+                <Source>Reactome</Source>
+                <Reference>Q01534</Reference>
+              </ExternalReference>
+              <ExternalReference id="58103">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258992</Reference>
+              </ExternalReference>
+              <ExternalReference id="54912">
+                <Source>Genatlas</Source>
+                <Reference>TSPY1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54914">
+                <Source>HGNC</Source>
+                <Reference>12381</Reference>
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+              <ExternalReference id="54915">
+                <Source>OMIM</Source>
+                <Reference>480100</Reference>
+              </ExternalReference>
+              <ExternalReference id="54913">
+                <Source>SwissProt</Source>
+                <Reference>Q01534</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39141">
+                <GeneLocus>Yp11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17863">
+      <OrphaCode>169464</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169464</ExpertLink>
+      <Name lang="en">Primary CD59 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23149847[PMID]</SourceOfValidation>
+          <Gene id="18955">
+            <Name lang="en">CD59 molecule (CD59 blood group)</Name>
+            <Symbol>CD59</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">16.3A5</Synonym>
+              <Synonym lang="en">EJ16</Synonym>
+              <Synonym lang="en">EJ30</Synonym>
+              <Synonym lang="en">EL32</Synonym>
+              <Synonym lang="en">G344</Synonym>
+              <Synonym lang="en">p18-20</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="44150">
+                <Source>HGNC</Source>
+                <Reference>1689</Reference>
+              </ExternalReference>
+              <ExternalReference id="44151">
+                <Source>OMIM</Source>
+                <Reference>107271</Reference>
+              </ExternalReference>
+              <ExternalReference id="83163">
+                <Source>Reactome</Source>
+                <Reference>P13987</Reference>
+              </ExternalReference>
+              <ExternalReference id="44152">
+                <Source>SwissProt</Source>
+                <Reference>P13987</Reference>
+              </ExternalReference>
+              <ExternalReference id="60219">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085063</Reference>
+              </ExternalReference>
+              <ExternalReference id="44149">
+                <Source>Genatlas</Source>
+                <Reference>CD59</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10935">
+                <GeneLocus>11p13</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="261">
+      <OrphaCode>87</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=87</ExpertLink>
+      <Name lang="en">Apert syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301628[PMID]_23593218[PMID]_15282208[PMID]</SourceOfValidation>
+          <Gene id="16664">
+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD332</Synonym>
+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066468</Reference>
+              </ExternalReference>
+              <ExternalReference id="33991">
+                <Source>Genatlas</Source>
+                <Reference>FGFR2</Reference>
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+              <ExternalReference id="33993">
+                <Source>HGNC</Source>
+                <Reference>3689</Reference>
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+              <ExternalReference id="83025">
+                <Source>IUPHAR</Source>
+                <Reference>1809</Reference>
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+              <ExternalReference id="33992">
+                <Source>OMIM</Source>
+                <Reference>176943</Reference>
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+              <ExternalReference id="57038">
+                <Source>Reactome</Source>
+                <Reference>P21802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>10q26.13</GeneLocus>
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+    <Disorder id="17866">
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+      <Name lang="en">Idiopathic central precocious puberty</Name>
+      <DisorderType id="21443">
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18272894[PMID]_20631455[PMID]</SourceOfValidation>
+          <Gene id="16307">
+            <Name lang="en">KISS1 receptor</Name>
+            <Symbol>KISS1R</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AXOR12</Synonym>
+              <Synonym lang="en">HOT7T175</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116014</Reference>
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+              <ExternalReference id="37104">
+                <Source>Genatlas</Source>
+                <Reference>KISS1R</Reference>
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+              <ExternalReference id="30696">
+                <Source>HGNC</Source>
+                <Reference>4510</Reference>
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+              <ExternalReference id="82975">
+                <Source>IUPHAR</Source>
+                <Reference>266</Reference>
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+              <ExternalReference id="30695">
+                <Source>OMIM</Source>
+                <Reference>604161</Reference>
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+              <ExternalReference id="58861">
+                <Source>Reactome</Source>
+                <Reference>Q969F8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q969F8</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23738509[PMID]</SourceOfValidation>
+          <Gene id="22253">
+            <Name lang="en">makorin ring finger protein 3</Name>
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+              <Synonym lang="en">MGC88288</Synonym>
+              <Synonym lang="en">RNF63</Synonym>
+              <Synonym lang="en">ZFP127</Synonym>
+              <Synonym lang="en">zinc finger protein 127</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179455</Reference>
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+                <Reference>MKRN3</Reference>
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+                <Reference>7114</Reference>
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+              <ExternalReference id="80680">
+                <Source>SwissProt</Source>
+                <Reference>Q13064</Reference>
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+              <ExternalReference id="143464">
+                <Source>Reactome</Source>
+                <Reference>Q13064</Reference>
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+                <GeneLocus>15q11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28324015[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
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+                <Reference>176290</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P80370</Reference>
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+          </DisorderGeneAssociationType>
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+      <OrphaCode>97</OrphaCode>
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+      <Name lang="en">Familial paroxysmal ataxia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">calcium voltage-gated channel subunit alpha1 A</Name>
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+            <SynonymList count="5">
+              <Synonym lang="en">APCA</Synonym>
+              <Synonym lang="en">Cav2.1</Synonym>
+              <Synonym lang="en">EA2</Synonym>
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+              <Synonym lang="en">HPCA</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141837</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>532</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Recurrent Neisseria infections due to factor D deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16527897[PMID]</SourceOfValidation>
+          <Gene id="18958">
+            <Name lang="en">complement factor D</Name>
+            <Symbol>CFD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ADN</Synonym>
+              <Synonym lang="en">adipsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>2842</Reference>
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+              <ExternalReference id="44167">
+                <Source>SwissProt</Source>
+                <Reference>P00746</Reference>
+              </ExternalReference>
+              <ExternalReference id="60220">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197766</Reference>
+              </ExternalReference>
+              <ExternalReference id="44164">
+                <Source>Genatlas</Source>
+                <Reference>CFD</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>2771</Reference>
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+              <ExternalReference id="44166">
+                <Source>OMIM</Source>
+                <Reference>134350</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00746</Reference>
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+                <GeneLocus>19p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>313</OrphaCode>
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+      <Name lang="en">Lamellar ichthyosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28575648[PMID]</SourceOfValidation>
+          <Gene id="25468">
+            <Name lang="en">sulfotransferase family 2B member 1</Name>
+            <Symbol>SULT2B1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HSST2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144497">
+                <Source>HGNC</Source>
+                <Reference>11459</Reference>
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+              <ExternalReference id="144498">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088002</Reference>
+              </ExternalReference>
+              <ExternalReference id="144499">
+                <Source>SwissProt</Source>
+                <Reference>O00204</Reference>
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+              <ExternalReference id="144500">
+                <Source>OMIM</Source>
+                <Reference>604125</Reference>
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+              <ExternalReference id="144501">
+                <Source>Genatlas</Source>
+                <Reference>SULT2B1</Reference>
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+              <ExternalReference id="144502">
+                <Source>Reactome</Source>
+                <Reference>O00204</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.33</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32516568[PMID]</SourceOfValidation>
+          <Gene id="31576">
+            <Name lang="en">aspartic peptidase retroviral like 1</Name>
+            <Symbol>ASPRV1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
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+                <Source>HGNC</Source>
+                <Reference>26321</Reference>
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+              <ExternalReference id="209000">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244617</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611765</Reference>
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+              <ExternalReference id="209002">
+                <Source>SwissProt</Source>
+                <Reference>Q53RT3</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28906551[PMID]_28369735[PMID]</SourceOfValidation>
+          <Gene id="26522">
+            <Name lang="en">short chain dehydrogenase/reductase family 9C member 7</Name>
+            <Symbol>SDR9C7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RDHS</Synonym>
+              <Synonym lang="en">SDR-O</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>SDR9C7</Reference>
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+              <ExternalReference id="155703">
+                <Source>Reactome</Source>
+                <Reference>Q8NEX9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29958</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170426</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22739337[PMID]_20301593[PMID]</SourceOfValidation>
+          <Gene id="15049">
+            <Name lang="en">ATP binding cassette subfamily A member 12</Name>
+            <Symbol>ABCA12</Symbol>
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+              <Synonym lang="en">DKFZP434G232</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="24655">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57075">
+                <Source>Reactome</Source>
+                <Reference>Q86UK0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UK0</Reference>
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+              <ExternalReference id="57074">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144452</Reference>
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+              <ExternalReference id="24658">
+                <Source>Genatlas</Source>
+                <Reference>ABCA12</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22739337[PMID]_20301593[PMID]</SourceOfValidation>
+          <Gene id="15502">
+            <Name lang="en">arachidonate 12-lipoxygenase, 12R type</Name>
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+              <Synonym lang="en">12R-LOX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179477</Reference>
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+              <ExternalReference id="26837">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O75342</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25423909[PMID]_21668430[PMID]_19131948[PMID]</SourceOfValidation>
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+            <Name lang="en">arachidonate lipoxygenase 3</Name>
+            <Symbol>ALOXE3</Symbol>
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+              <Synonym lang="en">Epidermal lipoxygenase-3</Synonym>
+              <Synonym lang="en">eLOX3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="59397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179148</Reference>
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+              <ExternalReference id="36546">
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+                <Reference>Q9BYJ1</Reference>
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+            <Name lang="en">transglutaminase 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">cytochrome P450 family 4 subfamily F member 22</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">NIPA like domain containing 4</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Mild hemophilia B</Name>
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+            <Name lang="en">coagulation factor IX</Name>
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+              <Synonym lang="en">Christmas disease</Synonym>
+              <Synonym lang="en">FIX</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Moderate hemophilia B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000101981</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>F9</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2364</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300746</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00740</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00740</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17869">
+      <OrphaCode>169793</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169793</ExpertLink>
+      <Name lang="en">Severe hemophilia B</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16017">
+            <Name lang="en">coagulation factor IX</Name>
+            <Symbol>F9</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Christmas disease</Synonym>
+              <Synonym lang="en">FIX</Synonym>
+              <Synonym lang="en">Factor IX</Synonym>
+              <Synonym lang="en">hemophilia B</Synonym>
+              <Synonym lang="en">plasma thromboplastic component</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>300746</Reference>
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+              <ExternalReference id="60223">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+    <Disorder id="268">
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+      <Name lang="en">NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">signal transducing adaptor family member 1</Name>
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+              <Synonym lang="en">BCR downstream signaling 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>604298</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULZ2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULZ2</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15938">
+            <Name lang="en">apolipoprotein B</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000084674</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>30372</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24268659[PMID]</SourceOfValidation>
+          <Gene id="22578">
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+            <Symbol>KLHL41</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">SARCOSIN</Synonym>
+              <Synonym lang="en">sarcomeric muscle protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000239474</Reference>
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+                <Reference>16905</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">leiomodin 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163380</Reference>
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+                <Reference>Q0VAK6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171433</ExpertLink>
+      <Name lang="en">Intermediate nemaline myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
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+            <Symbol>TPM3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57341">
+                <Source>Reactome</Source>
+                <Reference>P06753</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P06753</Reference>
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+                <Reference>ENSG00000143549</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation/>
+          <Gene id="15075">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57338">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
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+                <Reference>ENSG00000143632</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>6649</Reference>
+              </ExternalReference>
+              <ExternalReference id="94973">
+                <Source>OMIM</Source>
+                <Reference>616112</Reference>
+              </ExternalReference>
+              <ExternalReference id="94940">
+                <Source>SwissProt</Source>
+                <Reference>Q0VAK6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14063">
+                <GeneLocus>3p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17909">
+      <OrphaCode>171439</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171439</ExpertLink>
+      <Name lang="en">Childhood-onset nemaline myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23378224[PMID]_23413262[PMID]</SourceOfValidation>
+          <Gene id="15648">
+            <Name lang="en">tropomyosin 2</Name>
+            <Symbol>TPM2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DA1</Synonym>
+              <Synonym lang="en">NEM4</Synonym>
+              <Synonym lang="en">nemaline myopathy type 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57253">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198467</Reference>
+              </ExternalReference>
+              <ExternalReference id="27538">
+                <Source>Genatlas</Source>
+                <Reference>TPM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27536">
+                <Source>HGNC</Source>
+                <Reference>12011</Reference>
+              </ExternalReference>
+              <ExternalReference id="27535">
+                <Source>OMIM</Source>
+                <Reference>190990</Reference>
+              </ExternalReference>
+              <ExternalReference id="57254">
+                <Source>Reactome</Source>
+                <Reference>P07951</Reference>
+              </ExternalReference>
+              <ExternalReference id="32620">
+                <Source>SwissProt</Source>
+                <Reference>P07951</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21347">
+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28017374[PMID]</SourceOfValidation>
+          <Gene id="21896">
+            <Name lang="en">myopalladin</Name>
+            <Symbol>MYPN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'sarcomeric protein myopalladin, 145 kDa'</Synonym>
+              <Synonym lang="en">MYOP</Synonym>
+              <Synonym lang="en">Sarcomeric protein myopalladin, 145 kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138347</Reference>
+              </ExternalReference>
+              <ExternalReference id="77808">
+                <Source>Genatlas</Source>
+                <Reference>MYPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="77806">
+                <Source>HGNC</Source>
+                <Reference>23246</Reference>
+              </ExternalReference>
+              <ExternalReference id="77807">
+                <Source>OMIM</Source>
+                <Reference>608517</Reference>
+              </ExternalReference>
+              <ExternalReference id="77809">
+                <Source>SwissProt</Source>
+                <Reference>Q86TC9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24339">
+                <GeneLocus>10q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15075">
+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEM3</Synonym>
+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="24783">
+                <Source>OMIM</Source>
+                <Reference>102610</Reference>
+              </ExternalReference>
+              <ExternalReference id="57338">
+                <Source>Reactome</Source>
+                <Reference>P68133</Reference>
+              </ExternalReference>
+              <ExternalReference id="32353">
+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
+              </ExternalReference>
+              <ExternalReference id="57337">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143632</Reference>
+              </ExternalReference>
+              <ExternalReference id="24782">
+                <Source>Genatlas</Source>
+                <Reference>ACTA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24784">
+                <Source>HGNC</Source>
+                <Reference>129</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6723">
+                <GeneLocus>1q42.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7704029[PMID]</SourceOfValidation>
+          <Gene id="15649">
+            <Name lang="en">tropomyosin 3</Name>
+            <Symbol>TPM3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27541">
+                <Source>OMIM</Source>
+                <Reference>191030</Reference>
+              </ExternalReference>
+              <ExternalReference id="57341">
+                <Source>Reactome</Source>
+                <Reference>P06753</Reference>
+              </ExternalReference>
+              <ExternalReference id="32621">
+                <Source>SwissProt</Source>
+                <Reference>P06753</Reference>
+              </ExternalReference>
+              <ExternalReference id="57340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143549</Reference>
+              </ExternalReference>
+              <ExternalReference id="27540">
+                <Source>Genatlas</Source>
+                <Reference>TPM3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27542">
+                <Source>HGNC</Source>
+                <Reference>12012</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23841">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16535">
+            <Name lang="en">nebulin</Name>
+            <Symbol>NEB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEB177D</Synonym>
+              <Synonym lang="en">nemaline myopathy type 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31752">
+                <Source>OMIM</Source>
+                <Reference>161650</Reference>
+              </ExternalReference>
+              <ExternalReference id="60227">
+                <Source>Reactome</Source>
+                <Reference>P20929</Reference>
+              </ExternalReference>
+              <ExternalReference id="33600">
+                <Source>SwissProt</Source>
+                <Reference>P20929</Reference>
+              </ExternalReference>
+              <ExternalReference id="60226">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183091</Reference>
+              </ExternalReference>
+              <ExternalReference id="31755">
+                <Source>Genatlas</Source>
+                <Reference>NEB</Reference>
+              </ExternalReference>
+              <ExternalReference id="31753">
+                <Source>HGNC</Source>
+                <Reference>7720</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20581">
+                <GeneLocus>2q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301465[PMID]_21104864[PMID]</SourceOfValidation>
+          <Gene id="19818">
+            <Name lang="en">kelch repeat and BTB domain containing 13</Name>
+            <Symbol>KBTBD13</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NEM6</Synonym>
+              <Synonym lang="en">hCG_1645727</Synonym>
+              <Synonym lang="en">nemaline myopathy type 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56753">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234438</Reference>
+              </ExternalReference>
+              <ExternalReference id="50613">
+                <Source>Genatlas</Source>
+                <Reference>KBTBD13</Reference>
+              </ExternalReference>
+              <ExternalReference id="50612">
+                <Source>HGNC</Source>
+                <Reference>37227</Reference>
+              </ExternalReference>
+              <ExternalReference id="50611">
+                <Source>OMIM</Source>
+                <Reference>613727</Reference>
+              </ExternalReference>
+              <ExternalReference id="50614">
+                <Source>SwissProt</Source>
+                <Reference>C9JR72</Reference>
+              </ExternalReference>
+              <ExternalReference id="126400">
+                <Source>Reactome</Source>
+                <Reference>C9JR72</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26785">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24268659[PMID]</SourceOfValidation>
+          <Gene id="22578">
+            <Name lang="en">kelch like family member 41</Name>
+            <Symbol>KLHL41</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Krp1</Synonym>
+              <Synonym lang="en">SARCOSIN</Synonym>
+              <Synonym lang="en">sarcomeric muscle protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84505">
+                <Source>SwissProt</Source>
+                <Reference>O60662</Reference>
+              </ExternalReference>
+              <ExternalReference id="84620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000239474</Reference>
+              </ExternalReference>
+              <ExternalReference id="84504">
+                <Source>Genatlas</Source>
+                <Reference>KLHL41</Reference>
+              </ExternalReference>
+              <ExternalReference id="84502">
+                <Source>HGNC</Source>
+                <Reference>16905</Reference>
+              </ExternalReference>
+              <ExternalReference id="84503">
+                <Source>OMIM</Source>
+                <Reference>607701</Reference>
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+              <ExternalReference id="126432">
+                <Source>Reactome</Source>
+                <Reference>O60662</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26847">
+                <GeneLocus>2q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17911">
+      <OrphaCode>171445</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171445</ExpertLink>
+      <Name lang="en">Muscle filaminopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15929027[PMID]</SourceOfValidation>
+          <Gene id="16060">
+            <Name lang="en">filamin C</Name>
+            <Symbol>FLNC</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">ABPL</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">gamma filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128591</Reference>
+              </ExternalReference>
+              <ExternalReference id="29517">
+                <Source>Genatlas</Source>
+                <Reference>FLNC</Reference>
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+              <ExternalReference id="29515">
+                <Source>HGNC</Source>
+                <Reference>3756</Reference>
+              </ExternalReference>
+              <ExternalReference id="29514">
+                <Source>OMIM</Source>
+                <Reference>102565</Reference>
+              </ExternalReference>
+              <ExternalReference id="59161">
+                <Source>Reactome</Source>
+                <Reference>Q14315</Reference>
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+              <ExternalReference id="33075">
+                <Source>SwissProt</Source>
+                <Reference>Q14315</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q32.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="17912">
+      <OrphaCode>171607</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171607</ExpertLink>
+      <Name lang="en">X-linked spastic paraplegia type 34</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18154">
+            <Name lang="en">spastic paraplegia 34 (autosomal dominant)</Name>
+            <Symbol>SPG34</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41307">
+                <Source>HGNC</Source>
+                <Reference>32944</Reference>
+              </ExternalReference>
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+              <Locus id="10631">
+                <GeneLocus>reserved</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    </Disorder>
+    <Disorder id="313">
+      <OrphaCode>2771</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2771</ExpertLink>
+      <Name lang="en">Bruck syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15523624[PMID]_22689593[PMID]</SourceOfValidation>
+          <Gene id="15110">
+            <Name lang="en">procollagen-lysine,2-oxoglutarate 5-dioxygenase 2</Name>
+            <Symbol>PLOD2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LH2</Synonym>
+              <Synonym lang="en">lysyl hydroxlase 2</Synonym>
+              <Synonym lang="en">procollagen-lysine 5-dioxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152952</Reference>
+              </ExternalReference>
+              <ExternalReference id="24954">
+                <Source>Genatlas</Source>
+                <Reference>PLOD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24956">
+                <Source>HGNC</Source>
+                <Reference>9082</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601865</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>O00469</Reference>
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+              <ExternalReference id="32801">
+                <Source>SwissProt</Source>
+                <Reference>O00469</Reference>
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+                <GeneLocus>3q24</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22085994[PMID]_22949511[PMID]_22689593[PMID]</SourceOfValidation>
+          <Gene id="19231">
+            <Name lang="en">FKBP prolyl isomerase 10</Name>
+            <Symbol>FKBP10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FKBP6</Synonym>
+              <Synonym lang="en">FKBP65</Synonym>
+              <Synonym lang="en">FLJ20683</Synonym>
+              <Synonym lang="en">FLJ22041</Synonym>
+              <Synonym lang="en">FLJ23833</Synonym>
+              <Synonym lang="en">hFKBP65</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>607063</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96AY3</Reference>
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+              <ExternalReference id="60325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141756</Reference>
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+              <ExternalReference id="46577">
+                <Source>Genatlas</Source>
+                <Reference>FKBP10</Reference>
+              </ExternalReference>
+              <ExternalReference id="46576">
+                <Source>HGNC</Source>
+                <Reference>18169</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="312">
+      <OrphaCode>106</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=106</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Autism</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="16">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18988">
+            <Name lang="en">RAB39B, member RAS oncogene family</Name>
+            <Symbol>RAB39B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126390">
+                <Source>Reactome</Source>
+                <Reference>Q96DA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="44537">
+                <Source>Genatlas</Source>
+                <Reference>RAB39B</Reference>
+              </ExternalReference>
+              <ExternalReference id="44538">
+                <Source>HGNC</Source>
+                <Reference>16499</Reference>
+              </ExternalReference>
+              <ExternalReference id="44539">
+                <Source>OMIM</Source>
+                <Reference>300774</Reference>
+              </ExternalReference>
+              <ExternalReference id="44540">
+                <Source>SwissProt</Source>
+                <Reference>Q96DA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="58459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155961</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26765">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26220976[PMID]</SourceOfValidation>
+          <Gene id="15975">
+            <Name lang="en">engrailed homeobox 2</Name>
+            <Symbol>EN2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57154">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164778</Reference>
+              </ExternalReference>
+              <ExternalReference id="37444">
+                <Source>Genatlas</Source>
+                <Reference>EN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29074">
+                <Source>HGNC</Source>
+                <Reference>3343</Reference>
+              </ExternalReference>
+              <ExternalReference id="29073">
+                <Source>OMIM</Source>
+                <Reference>131310</Reference>
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+              <ExternalReference id="32987">
+                <Source>SwissProt</Source>
+                <Reference>P19622</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22991">
+                <GeneLocus>7q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19384346[PMID]</SourceOfValidation>
+          <Gene id="15289">
+            <Name lang="en">SH3 and multiple ankyrin repeat domains 3</Name>
+            <Symbol>SHANK3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">KIAA1650</Synonym>
+              <Synonym lang="en">PSAP2</Synonym>
+              <Synonym lang="en">SPANK-2</Synonym>
+              <Synonym lang="en">proline rich synapse associated protein 2</Synonym>
+              <Synonym lang="en">prosap2</Synonym>
+              <Synonym lang="en">shank postsynaptic density protein</Synonym>
+              <Synonym lang="en">shank3 postsynaptic density protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126317">
+                <Source>Reactome</Source>
+                <Reference>Q9BYB0</Reference>
+              </ExternalReference>
+              <ExternalReference id="57001">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000251322</Reference>
+              </ExternalReference>
+              <ExternalReference id="25803">
+                <Source>Genatlas</Source>
+                <Reference>SHANK3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25805">
+                <Source>HGNC</Source>
+                <Reference>14294</Reference>
+              </ExternalReference>
+              <ExternalReference id="25804">
+                <Source>OMIM</Source>
+                <Reference>606230</Reference>
+              </ExternalReference>
+              <ExternalReference id="33847">
+                <Source>SwissProt</Source>
+                <Reference>Q9BYB0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26619">
+                <GeneLocus>22q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24570023[PMID]</SourceOfValidation>
+          <Gene id="16550">
+            <Name lang="en">neuroligin 3</Name>
+            <Symbol>NLGN3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ASPGX1</Synonym>
+              <Synonym lang="en">AUTSX1</Synonym>
+              <Synonym lang="en">HNL3</Synonym>
+              <Synonym lang="en">KIAA1480</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57163">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196338</Reference>
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+              <ExternalReference id="31827">
+                <Source>Genatlas</Source>
+                <Reference>NLGN3</Reference>
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+              <ExternalReference id="31825">
+                <Source>HGNC</Source>
+                <Reference>14289</Reference>
+              </ExternalReference>
+              <ExternalReference id="31824">
+                <Source>OMIM</Source>
+                <Reference>300336</Reference>
+              </ExternalReference>
+              <ExternalReference id="33615">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZ94</Reference>
+              </ExternalReference>
+              <ExternalReference id="126362">
+                <Source>Reactome</Source>
+                <Reference>Q9NZ94</Reference>
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+              <Locus id="26709">
+                <GeneLocus>Xq13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27782075[PMID]</SourceOfValidation>
+          <Gene id="16551">
+            <Name lang="en">neuroligin 4 X-linked</Name>
+            <Symbol>NLGN4X</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HLNX</Synonym>
+              <Synonym lang="en">KIAA1260</Synonym>
+              <Synonym lang="en">NLGN</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57164">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146938</Reference>
+              </ExternalReference>
+              <ExternalReference id="31829">
+                <Source>Genatlas</Source>
+                <Reference>NLGN4X</Reference>
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+              <ExternalReference id="31831">
+                <Source>HGNC</Source>
+                <Reference>14287</Reference>
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+              <ExternalReference id="31830">
+                <Source>OMIM</Source>
+                <Reference>300427</Reference>
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+              <ExternalReference id="33616">
+                <Source>SwissProt</Source>
+                <Reference>Q8N0W4</Reference>
+              </ExternalReference>
+              <ExternalReference id="126363">
+                <Source>Reactome</Source>
+                <Reference>Q8N0W4</Reference>
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+              <Locus id="26711">
+                <GeneLocus>Xp22.32-p22.31</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16388">
+            <Name lang="en">methyl-CpG binding protein 2</Name>
+            <Symbol>MECP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="31076">
+                <Source>HGNC</Source>
+                <Reference>6990</Reference>
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+              <ExternalReference id="31075">
+                <Source>OMIM</Source>
+                <Reference>300005</Reference>
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+              <ExternalReference id="33452">
+                <Source>SwissProt</Source>
+                <Reference>P51608</Reference>
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+              <ExternalReference id="56763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169057</Reference>
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+              <ExternalReference id="31074">
+                <Source>Genatlas</Source>
+                <Reference>MECP2</Reference>
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+              <ExternalReference id="143919">
+                <Source>Reactome</Source>
+                <Reference>P51608</Reference>
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+            <LocusList count="1">
+              <Locus id="39303">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16392">
+            <Name lang="en">MET proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>MET</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DFNB97</Synonym>
+              <Synonym lang="en">HGFR</Synonym>
+              <Synonym lang="en">RCCP2</Synonym>
+              <Synonym lang="en">hepatocyte growth factor receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105976</Reference>
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+              <ExternalReference id="31094">
+                <Source>Genatlas</Source>
+                <Reference>MET</Reference>
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+              <ExternalReference id="31096">
+                <Source>HGNC</Source>
+                <Reference>7029</Reference>
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+              <ExternalReference id="82993">
+                <Source>IUPHAR</Source>
+                <Reference>1815</Reference>
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+              <ExternalReference id="31095">
+                <Source>OMIM</Source>
+                <Reference>164860</Reference>
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+              <ExternalReference id="57161">
+                <Source>Reactome</Source>
+                <Reference>P08581</Reference>
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+              <ExternalReference id="33456">
+                <Source>SwissProt</Source>
+                <Reference>P08581</Reference>
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+              <Locus id="9193">
+                <GeneLocus>7q31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18179894[PMID]_18179895[PMID]</SourceOfValidation>
+          <Gene id="17587">
+            <Name lang="en">contactin associated protein 2</Name>
+            <Symbol>CNTNAP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Caspr2</Synonym>
+              <Synonym lang="en">KIAA0868</Synonym>
+              <Synonym lang="en">NRXN4</Synonym>
+              <Synonym lang="en">contactin-associated protein-like 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60107">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174469</Reference>
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+              <ExternalReference id="38674">
+                <Source>Genatlas</Source>
+                <Reference>CNTNAP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13830</Reference>
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+              <ExternalReference id="38676">
+                <Source>OMIM</Source>
+                <Reference>604569</Reference>
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+              <ExternalReference id="38677">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHC6</Reference>
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+              <Locus id="23589">
+                <GeneLocus>7q35-q36.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17272">
+            <Name lang="en">activator of transcription and developmental regulator AUTS2</Name>
+            <Symbol>AUTS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FBRSL2</Synonym>
+              <Synonym lang="en">KIAA0442</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57153">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158321</Reference>
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+              <ExternalReference id="36557">
+                <Source>Genatlas</Source>
+                <Reference>AUTS2</Reference>
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+              <ExternalReference id="36559">
+                <Source>HGNC</Source>
+                <Reference>14262</Reference>
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+              <ExternalReference id="36558">
+                <Source>OMIM</Source>
+                <Reference>607270</Reference>
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+              <ExternalReference id="36560">
+                <Source>SwissProt</Source>
+                <Reference>Q8WXX7</Reference>
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+              <ExternalReference id="143852">
+                <Source>Reactome</Source>
+                <Reference>Q8WXX7</Reference>
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+              <Locus id="39169">
+                <GeneLocus>7q11.22</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17370">
+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit beta3</Name>
+            <Symbol>GABRB3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GABA(A) receptor, beta 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166206</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GABRB3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4083</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>412</Reference>
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+                <Source>OMIM</Source>
+                <Reference>137192</Reference>
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+              <ExternalReference id="57159">
+                <Source>Reactome</Source>
+                <Reference>P28472</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P28472</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18429">
+            <Name lang="en">neurexin 1</Name>
+            <Symbol>NRXN1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Hs.22998</Synonym>
+              <Synonym lang="en">KIAA0578</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="125559">
+                <Source>Reactome</Source>
+                <Reference>P58400</Reference>
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+              <ExternalReference id="135268">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULB1</Reference>
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+              <ExternalReference id="135269">
+                <Source>Reactome</Source>
+                <Reference>Q9ULB1</Reference>
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+              <ExternalReference id="57162">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179915</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NRXN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8008</Reference>
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+              <ExternalReference id="42168">
+                <Source>OMIM</Source>
+                <Reference>600565</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P58400</Reference>
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+                <GeneLocus>2p16.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18985">
+            <Name lang="en">eukaryotic translation initiation factor 4E</Name>
+            <Symbol>EIF4E</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EIF4E1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151247</Reference>
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+              <ExternalReference id="44522">
+                <Source>Genatlas</Source>
+                <Reference>EIF4E</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3287</Reference>
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+              <ExternalReference id="44524">
+                <Source>OMIM</Source>
+                <Reference>133440</Reference>
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+              <ExternalReference id="57156">
+                <Source>Reactome</Source>
+                <Reference>P06730</Reference>
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+              <ExternalReference id="45494">
+                <Source>SwissProt</Source>
+                <Reference>P06730</Reference>
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+              <Locus id="14061">
+                <GeneLocus>4q23</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21610">
+            <Name lang="en">solute carrier family 9 member A9</Name>
+            <Symbol>SLC9A9</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ35613</Synonym>
+              <Synonym lang="en">NHE9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181804</Reference>
+              </ExternalReference>
+              <ExternalReference id="75234">
+                <Source>Genatlas</Source>
+                <Reference>SLC9A9</Reference>
+              </ExternalReference>
+              <ExternalReference id="75232">
+                <Source>HGNC</Source>
+                <Reference>20653</Reference>
+              </ExternalReference>
+              <ExternalReference id="75233">
+                <Source>OMIM</Source>
+                <Reference>608396</Reference>
+              </ExternalReference>
+              <ExternalReference id="83584">
+                <Source>Reactome</Source>
+                <Reference>Q8IVB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="75235">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="190507">
+                <Source>IUPHAR</Source>
+                <Reference>956</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60423">
+                <GeneLocus>3q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21741">
+            <Name lang="en">chromodomain helicase DNA binding protein 8</Name>
+            <Symbol>CHD8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DUPLIN</Synonym>
+              <Synonym lang="en">KIAA1564</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100888</Reference>
+              </ExternalReference>
+              <ExternalReference id="76203">
+                <Source>Genatlas</Source>
+                <Reference>CHD8</Reference>
+              </ExternalReference>
+              <ExternalReference id="76201">
+                <Source>HGNC</Source>
+                <Reference>20153</Reference>
+              </ExternalReference>
+              <ExternalReference id="76202">
+                <Source>OMIM</Source>
+                <Reference>610528</Reference>
+              </ExternalReference>
+              <ExternalReference id="91600">
+                <Source>Reactome</Source>
+                <Reference>Q9HCK8</Reference>
+              </ExternalReference>
+              <ExternalReference id="76204">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCK8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12309">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20473310[PMID]</SourceOfValidation>
+          <Gene id="22648">
+            <Name lang="en">SH3 and multiple ankyrin repeat domains 2</Name>
+            <Symbol>SHANK2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CTTNBP1</Synonym>
+              <Synonym lang="en">ProSAP1</Synonym>
+              <Synonym lang="en">SHANK</Synonym>
+              <Synonym lang="en">SPANK-3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="85482">
+                <Source>Genatlas</Source>
+                <Reference>SHANK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="85480">
+                <Source>HGNC</Source>
+                <Reference>14295</Reference>
+              </ExternalReference>
+              <ExternalReference id="85481">
+                <Source>OMIM</Source>
+                <Reference>603290</Reference>
+              </ExternalReference>
+              <ExternalReference id="85483">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPX8</Reference>
+              </ExternalReference>
+              <ExternalReference id="87621">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162105</Reference>
+              </ExternalReference>
+              <ExternalReference id="126433">
+                <Source>Reactome</Source>
+                <Reference>Q9UPX8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26849">
+                <GeneLocus>11q13.3-q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20844286[PMID]_21091464[PMID]</SourceOfValidation>
+          <Gene id="22815">
+            <Name lang="en">patched domain containing 1</Name>
+            <Symbol>PTCHD1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ30296</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="89563">
+                <Source>SwissProt</Source>
+                <Reference>Q96NR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="91550">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165186</Reference>
+              </ExternalReference>
+              <ExternalReference id="89562">
+                <Source>Genatlas</Source>
+                <Reference>PTCHD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="89560">
+                <Source>HGNC</Source>
+                <Reference>26392</Reference>
+              </ExternalReference>
+              <ExternalReference id="89561">
+                <Source>OMIM</Source>
+                <Reference>300828</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23965">
+                <GeneLocus>Xp22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17913">
+      <OrphaCode>171612</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171612</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 37</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18130">
+            <Name lang="en">spastic paraplegia 37 (autosomal dominant)</Name>
+            <Symbol>SPG37</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41256">
+                <Source>HGNC</Source>
+                <Reference>33472</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10611">
+                <GeneLocus>8p21.2-q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34564892[PMID]</SourceOfValidation>
+          <Gene id="31367">
+            <Name lang="en">karyopherin subunit alpha 3</Name>
+            <Symbol>KPNA3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="205331">
+                <Source>HGNC</Source>
+                <Reference>6396</Reference>
+              </ExternalReference>
+              <ExternalReference id="205738">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102753</Reference>
+              </ExternalReference>
+              <ExternalReference id="205739">
+                <Source>OMIM</Source>
+                <Reference>601892</Reference>
+              </ExternalReference>
+              <ExternalReference id="205740">
+                <Source>SwissProt</Source>
+                <Reference>O00505</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="88183">
+                <GeneLocus>13q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="17914">
+      <OrphaCode>171617</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171617</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 38</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="18132">
+            <Name lang="en">spastic paraplegia 38 (autosomal dominant, Silver syndrome)</Name>
+            <Symbol>SPG38</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41260">
+                <Source>HGNC</Source>
+                <Reference>33485</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10613">
+                <GeneLocus>4p16-p15</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="315">
+      <OrphaCode>1349</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1349</ExpertLink>
+      <Name lang="en">Mitochondrial DNA-related cardiomyopathy and hearing loss</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8651277[PMID]</SourceOfValidation>
+          <Gene id="16842">
+            <Name lang="en">mitochondrially encoded tRNA-Lys (AAA/G)</Name>
+            <Symbol>MT-TK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnK</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210156</Reference>
+              </ExternalReference>
+              <ExternalReference id="35213">
+                <Source>Genatlas</Source>
+                <Reference>MT-TK</Reference>
+              </ExternalReference>
+              <ExternalReference id="35214">
+                <Source>HGNC</Source>
+                <Reference>7489</Reference>
+              </ExternalReference>
+              <ExternalReference id="35885">
+                <Source>OMIM</Source>
+                <Reference>590060</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9789">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17915">
+      <OrphaCode>171622</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171622</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 32</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="18151">
+            <Name lang="en">spastic paraplegia 32 (autosomal recessive)</Name>
+            <Symbol>SPG32</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SPG29</Synonym>
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41298">
+                <Source>HGNC</Source>
+                <Reference>32314</Reference>
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+            <LocusList count="1">
+              <Locus id="10627">
+                <GeneLocus>14q12-q21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="17916">
+      <OrphaCode>171629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171629</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 35</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20104589[PMID]</SourceOfValidation>
+          <Gene id="18006">
+            <Name lang="en">fatty acid 2-hydroxylase</Name>
+            <Symbol>FA2H</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAAH</Synonym>
+              <Synonym lang="en">FLJ25287</Synonym>
+              <Synonym lang="en">fatty acid hydroxylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59000">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103089</Reference>
+              </ExternalReference>
+              <ExternalReference id="40698">
+                <Source>Genatlas</Source>
+                <Reference>FA2H</Reference>
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+              <ExternalReference id="40699">
+                <Source>HGNC</Source>
+                <Reference>21197</Reference>
+              </ExternalReference>
+              <ExternalReference id="40700">
+                <Source>OMIM</Source>
+                <Reference>611026</Reference>
+              </ExternalReference>
+              <ExternalReference id="97276">
+                <Source>Reactome</Source>
+                <Reference>Q7L5A8</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7L5A8</Reference>
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+            <LocusList count="1">
+              <Locus id="23379">
+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="292">
+      <OrphaCode>357</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=357</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Gilbert syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8528206[PMID]_7715297[PMID]_23403257[PMID]</SourceOfValidation>
+          <Gene id="15683">
+            <Name lang="en">UDP glucuronosyltransferase family 1 member A1</Name>
+            <Symbol>UGT1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">UGT1A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193643">
+                <Source>IUPHAR</Source>
+                <Reference>2990</Reference>
+              </ExternalReference>
+              <ExternalReference id="27703">
+                <Source>HGNC</Source>
+                <Reference>12530</Reference>
+              </ExternalReference>
+              <ExternalReference id="27702">
+                <Source>OMIM</Source>
+                <Reference>191740</Reference>
+              </ExternalReference>
+              <ExternalReference id="57128">
+                <Source>Reactome</Source>
+                <Reference>P22309</Reference>
+              </ExternalReference>
+              <ExternalReference id="32655">
+                <Source>SwissProt</Source>
+                <Reference>P22309</Reference>
+              </ExternalReference>
+              <ExternalReference id="95379">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241635</Reference>
+              </ExternalReference>
+              <ExternalReference id="27705">
+                <Source>Genatlas</Source>
+                <Reference>UGT1A1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66695">
+                <GeneLocus>2q37.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="293">
+      <OrphaCode>861</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=861</ExpertLink>
+      <Name lang="en">Treacher-Collins syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25790162[PMID]</SourceOfValidation>
+          <Gene id="29805">
+            <Name lang="en">RNA polymerase I subunit B</Name>
+            <Symbol>POLR1B</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ10816</Synonym>
+              <Synonym lang="en">FLJ21921</Synonym>
+              <Synonym lang="en">RPA135</Synonym>
+              <Synonym lang="en">RPA2</Synonym>
+              <Synonym lang="en">Rpo1-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="188048">
+                <Source>HGNC</Source>
+                <Reference>20454</Reference>
+              </ExternalReference>
+              <ExternalReference id="188049">
+                <Source>OMIM</Source>
+                <Reference>602000</Reference>
+              </ExternalReference>
+              <ExternalReference id="188050">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9Y6</Reference>
+              </ExternalReference>
+              <ExternalReference id="188051">
+                <Source>Reactome</Source>
+                <Reference>Q9H9Y6</Reference>
+              </ExternalReference>
+              <ExternalReference id="188052">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125630</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="57069">
+                <GeneLocus>2q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301704[PMID]</SourceOfValidation>
+          <Gene id="15595">
+            <Name lang="en">treacle ribosome biogenesis factor 1</Name>
+            <Symbol>TCOF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TCS</Synonym>
+              <Synonym lang="en">treacle</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57133">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070814</Reference>
+              </ExternalReference>
+              <ExternalReference id="27281">
+                <Source>Genatlas</Source>
+                <Reference>TCOF1</Reference>
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+              <ExternalReference id="27283">
+                <Source>HGNC</Source>
+                <Reference>11654</Reference>
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+              <ExternalReference id="27282">
+                <Source>OMIM</Source>
+                <Reference>606847</Reference>
+              </ExternalReference>
+              <ExternalReference id="32566">
+                <Source>SwissProt</Source>
+                <Reference>Q13428</Reference>
+              </ExternalReference>
+              <ExternalReference id="143362">
+                <Source>Reactome</Source>
+                <Reference>Q13428</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>5q32-q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301704[PMID]</SourceOfValidation>
+          <Gene id="19584">
+            <Name lang="en">RNA polymerase I and III subunit D</Name>
+            <Symbol>POLR1D</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AC19</Synonym>
+              <Synonym lang="en">MGC9850</Synonym>
+              <Synonym lang="en">RPA16</Synonym>
+              <Synonym lang="en">RPA9</Synonym>
+              <Synonym lang="en">RPAC2</Synonym>
+              <Synonym lang="en">RPO1-3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57131">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186184</Reference>
+              </ExternalReference>
+              <ExternalReference id="50130">
+                <Source>Genatlas</Source>
+                <Reference>POLR1D</Reference>
+              </ExternalReference>
+              <ExternalReference id="50131">
+                <Source>HGNC</Source>
+                <Reference>20422</Reference>
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+              <ExternalReference id="50132">
+                <Source>OMIM</Source>
+                <Reference>613715</Reference>
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+              <ExternalReference id="57132">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2S0</Reference>
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+              <ExternalReference id="189389">
+                <Source>SwissProt</Source>
+                <Reference>P0DPB5</Reference>
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+              <ExternalReference id="189390">
+                <Source>SwissProt</Source>
+                <Reference>P0DPB6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>13q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301704[PMID]</SourceOfValidation>
+          <Gene id="19587">
+            <Name lang="en">RNA polymerase I and III subunit C</Name>
+            <Symbol>POLR1C</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AC40</Synonym>
+              <Synonym lang="en">RPA39</Synonym>
+              <Synonym lang="en">RPA40</Synonym>
+              <Synonym lang="en">RPA5</Synonym>
+              <Synonym lang="en">RPAC1</Synonym>
+              <Synonym lang="en">RPC40</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57129">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171453</Reference>
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+              <ExternalReference id="50148">
+                <Source>Genatlas</Source>
+                <Reference>POLR1C</Reference>
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+              <ExternalReference id="50147">
+                <Source>HGNC</Source>
+                <Reference>20194</Reference>
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+              <ExternalReference id="50146">
+                <Source>OMIM</Source>
+                <Reference>610060</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15160</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15160</Reference>
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+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="294">
+      <OrphaCode>308</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=308</ExpertLink>
+      <Name lang="en">Progressive myoclonic epilepsy type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9012407[PMID]_20301321[PMID]</SourceOfValidation>
+          <Gene id="15815">
+            <Name lang="en">cystatin B</Name>
+            <Symbol>CSTB</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'Epilepsy, progressive myoclonic 1'</Synonym>
+              <Synonym lang="en">CST6</Synonym>
+              <Synonym lang="en">PME</Synonym>
+              <Synonym lang="en">stefin B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126338">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57134">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160213</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CSTB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2482</Reference>
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+              <ExternalReference id="28321">
+                <Source>OMIM</Source>
+                <Reference>601145</Reference>
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+              <ExternalReference id="32826">
+                <Source>SwissProt</Source>
+                <Reference>P04080</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19847901[PMID]</SourceOfValidation>
+          <Gene id="17585">
+            <Name lang="en">scavenger receptor class B member 2</Name>
+            <Symbol>SCARB2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HLGP85</Synonym>
+              <Synonym lang="en">LIMP-2</Synonym>
+              <Synonym lang="en">LIMPII</Synonym>
+              <Synonym lang="en">SR-BII</Synonym>
+              <Synonym lang="en">lysosomal integral membrane protein II</Synonym>
+              <Synonym lang="en">lysosome membrane protein 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126376">
+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138760</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1665</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602257</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14108</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18976727[PMID]</SourceOfValidation>
+          <Gene id="17886">
+            <Name lang="en">prickle planar cell polarity protein 1</Name>
+            <Symbol>PRICKLE1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EPM1B</Synonym>
+              <Synonym lang="en">FLJ31937</Synonym>
+              <Synonym lang="en">REST/NRSF interacting LIM domain protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000139174</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072501</Reference>
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+              <ExternalReference id="36318">
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+                <Reference>SMC1A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11111</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">DKFZp434L1319</Synonym>
+              <Synonym lang="en">FLJ11203</Synonym>
+              <Synonym lang="en">FLJ12597</Synonym>
+              <Synonym lang="en">FLJ13354</Synonym>
+              <Synonym lang="en">FLJ13648</Synonym>
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+              <Synonym lang="en">sister chromatid cohesion 2 homolog (yeast)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>SMC3</Symbol>
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+              <Synonym lang="en">Bamacan</Synonym>
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+              <Synonym lang="en">bamacan proteoglycan</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108055</Reference>
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+                <Source>Genatlas</Source>
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+              <Synonym lang="en">hHR21</Synonym>
+              <Synonym lang="en">kleisin</Synonym>
+              <Synonym lang="en">sister chromatid cohesion 1</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>O60216</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12027">
+                <GeneLocus>8q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29379197[PMID]</SourceOfValidation>
+          <Gene id="23630">
+            <Name lang="en">bromodomain containing 4</Name>
+            <Symbol>BRD4</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CAP</Synonym>
+              <Synonym lang="en">HUNK1</Synonym>
+              <Synonym lang="en">HUNKI</Synonym>
+              <Synonym lang="en">MCAP</Synonym>
+              <Synonym lang="en">chromosome-associated protein</Synonym>
+              <Synonym lang="en">mitotic chromosome-associated protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="98729">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141867</Reference>
+              </ExternalReference>
+              <ExternalReference id="98727">
+                <Source>Genatlas</Source>
+                <Reference>BRD4</Reference>
+              </ExternalReference>
+              <ExternalReference id="98725">
+                <Source>HGNC</Source>
+                <Reference>13575</Reference>
+              </ExternalReference>
+              <ExternalReference id="98730">
+                <Source>IUPHAR</Source>
+                <Reference>1945</Reference>
+              </ExternalReference>
+              <ExternalReference id="98726">
+                <Source>OMIM</Source>
+                <Reference>608749</Reference>
+              </ExternalReference>
+              <ExternalReference id="98728">
+                <Source>SwissProt</Source>
+                <Reference>O60885</Reference>
+              </ExternalReference>
+              <ExternalReference id="143129">
+                <Source>Reactome</Source>
+                <Reference>O60885</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37973">
+                <GeneLocus>19p13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="302">
+      <OrphaCode>930</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=930</ExpertLink>
+      <Name lang="en">Idiopathic achalasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27976805[PMID]</SourceOfValidation>
+          <Gene id="16440">
+            <Name lang="en">cytokine receptor like factor 1</Name>
+            <Symbol>CRLF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CISS</Synonym>
+              <Synonym lang="en">CISS1</Synonym>
+              <Synonym lang="en">CLF</Synonym>
+              <Synonym lang="en">CLF-1</Synonym>
+              <Synonym lang="en">cold-induced sweating syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006016</Reference>
+              </ExternalReference>
+              <ExternalReference id="36894">
+                <Source>Genatlas</Source>
+                <Reference>CRLF1</Reference>
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+              <ExternalReference id="31300">
+                <Source>HGNC</Source>
+                <Reference>2364</Reference>
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+              <ExternalReference id="31299">
+                <Source>OMIM</Source>
+                <Reference>604237</Reference>
+              </ExternalReference>
+              <ExternalReference id="98071">
+                <Source>Reactome</Source>
+                <Reference>O75462</Reference>
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+              <ExternalReference id="33500">
+                <Source>SwissProt</Source>
+                <Reference>O75462</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19p12</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24997987[PMID]</SourceOfValidation>
+          <Gene id="16829">
+            <Name lang="en">major histocompatibility complex, class II, DQ alpha 1</Name>
+            <Symbol>HLA-DQA1</Symbol>
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+              <Synonym lang="en">CELIAC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="35151">
+                <Source>OMIM</Source>
+                <Reference>146880</Reference>
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+              <ExternalReference id="82664">
+                <Source>Reactome</Source>
+                <Reference>P01909</Reference>
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+              <ExternalReference id="82609">
+                <Source>SwissProt</Source>
+                <Reference>P01909</Reference>
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+              <ExternalReference id="57095">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196735</Reference>
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+              <ExternalReference id="35148">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQA1</Reference>
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+              <ExternalReference id="35149">
+                <Source>HGNC</Source>
+                <Reference>4942</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24059">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24997987[PMID]</SourceOfValidation>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
+              </ExternalReference>
+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
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+              <ExternalReference id="43210">
+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+              <ExternalReference id="43211">
+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
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+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
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+              <ExternalReference id="82625">
+                <Source>SwissProt</Source>
+                <Reference>P01920</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25479138[PMID]</SourceOfValidation>
+          <Gene id="23220">
+            <Name lang="en">nitric oxide synthase 1</Name>
+            <Symbol>NOS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">nNOS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95593">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089250</Reference>
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+              <ExternalReference id="95590">
+                <Source>Genatlas</Source>
+                <Reference>NOS1</Reference>
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+              <ExternalReference id="95588">
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="95592">
+                <Source>Reactome</Source>
+                <Reference>P29475</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P29475</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="343">
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+      <Name lang="en">22q11.2 duplication syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">T-box transcription factor 1</Name>
+            <Symbol>TBX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CATCH22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184058</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TBX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11592</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43435</Reference>
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+    <Disorder id="17815">
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+      <Name lang="en">Cernunnos-XLF deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17345">
+            <Name lang="en">non-homologous end joining factor 1</Name>
+            <Symbol>NHEJ1</Symbol>
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+              <Synonym lang="en">Cernunnos</Synonym>
+              <Synonym lang="en">FLJ12610</Synonym>
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+              <Synonym lang="en">XRCC4-like factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9H9Q4</Reference>
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+    <Disorder id="17820">
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+      <Name lang="en">Immunodeficiency due to CD25 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">interleukin 2 receptor subunit alpha</Name>
+            <Symbol>IL2RA</Symbol>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Reference>6008</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P01589</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01589</Reference>
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+      <Name lang="en">Severe combined immunodeficiency due to FOXN1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109101</Reference>
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+                <Source>IUPHAR</Source>
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+                <Reference>12765</Reference>
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+                <Reference>1675</Reference>
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+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169085</ExpertLink>
+      <Name lang="en">Susceptibility to respiratory infections associated with CD8alpha chain mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11435463[PMID]</SourceOfValidation>
+          <Gene id="18957">
+            <Name lang="en">CD8a molecule</Name>
+            <Symbol>CD8A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60165">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153563</Reference>
+              </ExternalReference>
+              <ExternalReference id="44159">
+                <Source>Genatlas</Source>
+                <Reference>CD8A</Reference>
+              </ExternalReference>
+              <ExternalReference id="44160">
+                <Source>HGNC</Source>
+                <Reference>1706</Reference>
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+              <ExternalReference id="44161">
+                <Source>OMIM</Source>
+                <Reference>186910</Reference>
+              </ExternalReference>
+              <ExternalReference id="60166">
+                <Source>Reactome</Source>
+                <Reference>P01732</Reference>
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+              <ExternalReference id="44162">
+                <Source>SwissProt</Source>
+                <Reference>P01732</Reference>
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+                <GeneLocus>2p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17798">
+      <OrphaCode>168829</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168829</ExpertLink>
+      <Name lang="en">Primary peritoneal carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22006311[PMID]</SourceOfValidation>
+          <Gene id="15377">
+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 1</Synonym>
+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
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+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
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+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
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+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
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+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
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+                <Reference>P38398</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="324">
+      <OrphaCode>753</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=753</ExpertLink>
+      <Name lang="en">46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>8723114[PMID]_9497950[PMID]</SourceOfValidation>
+          <Gene id="15556">
+            <Name lang="en">steroid 5 alpha-reductase 2</Name>
+            <Symbol>SRD5A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">3-oxo-5-alpha-steroid 4-dehydrogenase 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95165">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277893</Reference>
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+              <ExternalReference id="27096">
+                <Source>Genatlas</Source>
+                <Reference>SRD5A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11285</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2633</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607306</Reference>
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+              <ExternalReference id="57171">
+                <Source>Reactome</Source>
+                <Reference>P31213</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P31213</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Triose phosphate-isomerase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15646">
+            <Name lang="en">triosephosphate isomerase 1</Name>
+            <Symbol>TPI1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111669</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TPI1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12009</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57173">
+                <Source>Reactome</Source>
+                <Reference>P60174</Reference>
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+                <Reference>P60174</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Darier disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">sarcoplasmic/endoplasmic reticulum calcium ATPase 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">integrase interactor 1</Synonym>
+              <Synonym lang="en">malignant rhabdoid tumor suppressor</Synonym>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">brahma protein-like 1</Synonym>
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+              <Synonym lang="en">mitotic growth and transcription activator</Synonym>
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+          <SourceOfValidation>23556151[PMID]</SourceOfValidation>
+          <Gene id="20833">
+            <Name lang="en">AT-rich interaction domain 1B</Name>
+            <Symbol>ARID1B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">6A3-5</Synonym>
+              <Synonym lang="en">BAF250b</Synonym>
+              <Synonym lang="en">DAN15</Synonym>
+              <Synonym lang="en">ELD/OSA1</Synonym>
+              <Synonym lang="en">KIAA1235</Synonym>
+              <Synonym lang="en">SMARCF2</Synonym>
+              <Synonym lang="en">p250R</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049618</Reference>
+              </ExternalReference>
+              <ExternalReference id="61209">
+                <Source>Genatlas</Source>
+                <Reference>ARID1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="61207">
+                <Source>HGNC</Source>
+                <Reference>18040</Reference>
+              </ExternalReference>
+              <ExternalReference id="61208">
+                <Source>OMIM</Source>
+                <Reference>614556</Reference>
+              </ExternalReference>
+              <ExternalReference id="91595">
+                <Source>Reactome</Source>
+                <Reference>Q8NFD5</Reference>
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+              <ExternalReference id="61210">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFD5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11869">
+                <GeneLocus>6q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23556151[PMID]</SourceOfValidation>
+          <Gene id="20834">
+            <Name lang="en">AT-rich interaction domain 1A</Name>
+            <Symbol>ARID1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">B120</Synonym>
+              <Synonym lang="en">BAF250</Synonym>
+              <Synonym lang="en">BAF250a</Synonym>
+              <Synonym lang="en">C10rf4</Synonym>
+              <Synonym lang="en">P270</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83297">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117713</Reference>
+              </ExternalReference>
+              <ExternalReference id="61214">
+                <Source>Genatlas</Source>
+                <Reference>ARID1A</Reference>
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+              <ExternalReference id="61212">
+                <Source>HGNC</Source>
+                <Reference>11110</Reference>
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+              <ExternalReference id="61213">
+                <Source>OMIM</Source>
+                <Reference>603024</Reference>
+              </ExternalReference>
+              <ExternalReference id="91596">
+                <Source>Reactome</Source>
+                <Reference>O14497</Reference>
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+              <ExternalReference id="61215">
+                <Source>SwissProt</Source>
+                <Reference>O14497</Reference>
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+            <LocusList count="1">
+              <Locus id="20587">
+                <GeneLocus>1p36.11</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23556151[PMID]_23906836[PMID]_23929686[PMID]</SourceOfValidation>
+          <Gene id="22035">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1</Name>
+            <Symbol>SMARCE1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BAF57</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073584</Reference>
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+              <ExternalReference id="78755">
+                <Source>Genatlas</Source>
+                <Reference>SMARCE1</Reference>
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+              <ExternalReference id="78753">
+                <Source>HGNC</Source>
+                <Reference>11109</Reference>
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+              <ExternalReference id="78754">
+                <Source>OMIM</Source>
+                <Reference>603111</Reference>
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+              <ExternalReference id="91601">
+                <Source>Reactome</Source>
+                <Reference>Q969G3</Reference>
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+              <ExternalReference id="78756">
+                <Source>SwissProt</Source>
+                <Reference>Q969G3</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24886874[PMID]</SourceOfValidation>
+          <Gene id="22956">
+            <Name lang="en">SRY-box transcription factor 11</Name>
+            <Symbol>SOX11</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRY-related HMG-box gene 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="90840">
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+                <Reference>11191</Reference>
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+              <ExternalReference id="90841">
+                <Source>OMIM</Source>
+                <Reference>600898</Reference>
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+              <ExternalReference id="90843">
+                <Source>SwissProt</Source>
+                <Reference>P35716</Reference>
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+              <ExternalReference id="91663">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176887</Reference>
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+              <ExternalReference id="90842">
+                <Source>Genatlas</Source>
+                <Reference>SOX11</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30661722[PMID]</SourceOfValidation>
+          <Gene id="28273">
+            <Name lang="en">SRY-box transcription factor 4</Name>
+            <Symbol>SOX4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
+                <Reference>11200</Reference>
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+              <ExternalReference id="171432">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124766</Reference>
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+              <ExternalReference id="171433">
+                <Source>SwissProt</Source>
+                <Reference>Q06945</Reference>
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+              <ExternalReference id="171434">
+                <Source>Reactome</Source>
+                <Reference>Q06945</Reference>
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+              <ExternalReference id="171435">
+                <Source>OMIM</Source>
+                <Reference>184430</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29429572[PMID]</SourceOfValidation>
+          <Gene id="27130">
+            <Name lang="en">double PHD fingers 2</Name>
+            <Symbol>DPF2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BAF45d</Synonym>
+              <Synonym lang="en">SMARCG2</Synonym>
+              <Synonym lang="en">ubi-d4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="158384">
+                <Source>HGNC</Source>
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+              <ExternalReference id="158385">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133884</Reference>
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+              <ExternalReference id="158386">
+                <Source>SwissProt</Source>
+                <Reference>Q92785</Reference>
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+              <ExternalReference id="158387">
+                <Source>OMIM</Source>
+                <Reference>601671</Reference>
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+              <ExternalReference id="158388">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="158389">
+                <Source>Reactome</Source>
+                <Reference>Q92785</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30879640[PMID]</SourceOfValidation>
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+              <Synonym lang="en">BAF60A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="155632">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066117</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96GM5</Reference>
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+              <ExternalReference id="155635">
+                <Source>Genatlas</Source>
+                <Reference>SMARCD1</Reference>
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+              <ExternalReference id="155636">
+                <Source>Reactome</Source>
+                <Reference>Q96GM5</Reference>
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+              <ExternalReference id="155634">
+                <Source>OMIM</Source>
+                <Reference>601735</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30580808[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8TAQ2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11105</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139613</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>SMARCC2</Reference>
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+                <GeneLocus>12q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17804">
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+      <Name lang="en">Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
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+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+                <Reference>FGFR1</Reference>
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+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+                <Reference>P11362</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+      <Name lang="en">Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P09619</Reference>
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+                <Reference>P09619</Reference>
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+      <Name lang="en">Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>8803</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17800">
+      <OrphaCode>168940</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168940</ExpertLink>
+      <Name lang="en">Chronic eosinophilic leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID]</SourceOfValidation>
+          <Gene id="16051">
+            <Name lang="en">factor interacting with PAPOLA and CPSF1</Name>
+            <Symbol>FIP1L1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZp586K0717</Synonym>
+              <Synonym lang="en">FIP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58602">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145216</Reference>
+              </ExternalReference>
+              <ExternalReference id="37458">
+                <Source>Genatlas</Source>
+                <Reference>FIP1L1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29474">
+                <Source>HGNC</Source>
+                <Reference>19124</Reference>
+              </ExternalReference>
+              <ExternalReference id="29473">
+                <Source>OMIM</Source>
+                <Reference>607686</Reference>
+              </ExternalReference>
+              <ExternalReference id="98058">
+                <Source>Reactome</Source>
+                <Reference>Q6UN15</Reference>
+              </ExternalReference>
+              <ExternalReference id="33066">
+                <Source>SwissProt</Source>
+                <Reference>Q6UN15</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17727">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID]</SourceOfValidation>
+          <Gene id="16629">
+            <Name lang="en">platelet derived growth factor receptor alpha</Name>
+            <Symbol>PDGFRA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD140a</Synonym>
+              <Synonym lang="en">GAS9</Synonym>
+              <Synonym lang="en">PDGFR2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134853</Reference>
+              </ExternalReference>
+              <ExternalReference id="37557">
+                <Source>Genatlas</Source>
+                <Reference>PDGFRA</Reference>
+              </ExternalReference>
+              <ExternalReference id="32200">
+                <Source>HGNC</Source>
+                <Reference>8803</Reference>
+              </ExternalReference>
+              <ExternalReference id="83023">
+                <Source>IUPHAR</Source>
+                <Reference>1803</Reference>
+              </ExternalReference>
+              <ExternalReference id="32199">
+                <Source>OMIM</Source>
+                <Reference>173490</Reference>
+              </ExternalReference>
+              <ExternalReference id="58604">
+                <Source>Reactome</Source>
+                <Reference>P16234</Reference>
+              </ExternalReference>
+              <ExternalReference id="33733">
+                <Source>SwissProt</Source>
+                <Reference>P16234</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9621">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="369">
+      <OrphaCode>2609</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2609</ExpertLink>
+      <Name lang="en">Isolated complex I deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="29">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27374773[PMID]_27374774[PMID]</SourceOfValidation>
+          <Gene id="24095">
+            <Name lang="en">transmembrane protein 126B</Name>
+            <Symbol>TMEM126B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HT007</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="125775">
+                <Source>OMIM</Source>
+                <Reference>615533</Reference>
+              </ExternalReference>
+              <ExternalReference id="125776">
+                <Source>Genatlas</Source>
+                <Reference>TMEM126B</Reference>
+              </ExternalReference>
+              <ExternalReference id="125777">
+                <Source>SwissProt</Source>
+                <Reference>Q8IUX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="125774">
+                <Source>HGNC</Source>
+                <Reference>30883</Reference>
+              </ExternalReference>
+              <ExternalReference id="125778">
+                <Source>Reactome</Source>
+                <Reference>Q8IUX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="125779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171204</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26435">
+                <GeneLocus>11q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31866046[PMID]</SourceOfValidation>
+          <Gene id="27615">
+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 8</Name>
+            <Symbol>NDUFAF8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="160783">
+                <Source>HGNC</Source>
+                <Reference>33551</Reference>
+              </ExternalReference>
+              <ExternalReference id="160784">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000224877</Reference>
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+              <ExternalReference id="160785">
+                <Source>SwissProt</Source>
+                <Reference>A1L188</Reference>
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+              <ExternalReference id="190886">
+                <Source>OMIM</Source>
+                <Reference>618461</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28604674[PMID]</SourceOfValidation>
+          <Gene id="24983">
+            <Name lang="en">translocase of inner mitochondrial membrane domain containing 1</Name>
+            <Symbol>TIMMDC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ22597</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="132520">
+                <Source>OMIM</Source>
+                <Reference>615534</Reference>
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+              <ExternalReference id="133247">
+                <Source>SwissProt</Source>
+                <Reference>Q9NPL8</Reference>
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+              <ExternalReference id="143135">
+                <Source>Genatlas</Source>
+                <Reference>TIMMDC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="134579">
+                <Source>Reactome</Source>
+                <Reference>Q9NPL8</Reference>
+              </ExternalReference>
+              <ExternalReference id="133470">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113845</Reference>
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+              <ExternalReference id="131800">
+                <Source>HGNC</Source>
+                <Reference>1321</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26741492[PMID]</SourceOfValidation>
+          <Gene id="23222">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit B11</Name>
+            <Symbol>NDUFB11</Symbol>
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+              <Synonym lang="en">ESSS</Synonym>
+              <Synonym lang="en">NP17.3</Synonym>
+              <Synonym lang="en">Np15</Synonym>
+              <Synonym lang="en">complex I NP17.3 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147123</Reference>
+              </ExternalReference>
+              <ExternalReference id="95609">
+                <Source>Genatlas</Source>
+                <Reference>NDUFB11</Reference>
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+              <ExternalReference id="95607">
+                <Source>HGNC</Source>
+                <Reference>20372</Reference>
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+              <ExternalReference id="95608">
+                <Source>OMIM</Source>
+                <Reference>300403</Reference>
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+              <ExternalReference id="95611">
+                <Source>Reactome</Source>
+                <Reference>Q9NX14</Reference>
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+              <ExternalReference id="95610">
+                <Source>SwissProt</Source>
+                <Reference>Q9NX14</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30245030[PMID]</SourceOfValidation>
+          <Gene id="24739">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A6</Name>
+            <Symbol>NDUFA6</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">B14</Synonym>
+              <Synonym lang="en">CI-B14</Synonym>
+              <Synonym lang="en">LYRM6</Synonym>
+              <Synonym lang="en">NADHB14</Synonym>
+              <Synonym lang="en">complex I B14 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
+                <Reference>NDUFA6</Reference>
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+              <ExternalReference id="134422">
+                <Source>Reactome</Source>
+                <Reference>P56556</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602138</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7690</Reference>
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+              <ExternalReference id="133363">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184983</Reference>
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+              <ExternalReference id="133006">
+                <Source>SwissProt</Source>
+                <Reference>P56556</Reference>
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+            <LocusList count="1">
+              <Locus id="38257">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 1</Synonym>
+              <Synonym lang="en">ND1</Synonym>
+              <Synonym lang="en">complex I ND1 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198888</Reference>
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+              <ExternalReference id="37257">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7455</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516000</Reference>
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+              <ExternalReference id="56742">
+                <Source>Reactome</Source>
+                <Reference>P03886</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P03886</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 2</Synonym>
+              <Synonym lang="en">ND2</Synonym>
+              <Synonym lang="en">complex I ND2 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56910">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198763</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-ND2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7456</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516001</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P03891</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P03891</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14705112[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3</Name>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 3</Synonym>
+              <Synonym lang="en">ND3</Synonym>
+              <Synonym lang="en">complex I ND3 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198840</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>7458</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16200211[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 2</Name>
+            <Symbol>NDUFAF2</Symbol>
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+              <Synonym lang="en">B17.2L</Synonym>
+              <Synonym lang="en">MMTN</Synonym>
+              <Synonym lang="en">Myc-induced mitochondrial protein</Synonym>
+              <Synonym lang="en">mimitin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>NDUFAF2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28086</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609653</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N183</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N183</Reference>
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+              <ExternalReference id="57202">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164182</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20382551[PMID]_22644603[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S1</Name>
+            <Symbol>NDUFS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CI-75k</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 75kDa subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000023228</Reference>
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+                <Reference>NDUFS1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7707</Reference>
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+                <Source>OMIM</Source>
+                <Reference>157655</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15576045[PMID]_22644603[PMID]</SourceOfValidation>
+          <Gene id="16527">
+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S2</Name>
+            <Symbol>NDUFS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CI-49</Synonym>
+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 49kDa subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000158864</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7708</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22499348[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S3</Name>
+            <Symbol>NDUFS3</Symbol>
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+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 30kDa subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O75489</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213619</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFS3</Reference>
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+                <Reference>7710</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9463323[PMID]_22644603[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit S4</Name>
+            <Symbol>NDUFS4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AQDQ</Synonym>
+              <Synonym lang="en">CI-18</Synonym>
+              <Synonym lang="en">complex I 18kDa subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164258</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFS4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7711</Reference>
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+                <Reference>O43181</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15372108[PMID]_19259137[PMID]_22644603[PMID]</SourceOfValidation>
+          <Gene id="16530">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit S6</Name>
+            <Symbol>NDUFS6</Symbol>
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+              <Synonym lang="en">CI-13kA</Synonym>
+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 13kDa subunit A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000145494</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFS6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7713</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>O75380</Reference>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S7</Name>
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+              <Synonym lang="en">CI-20</Synonym>
+              <Synonym lang="en">FLJ45860</Synonym>
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+              <Synonym lang="en">PSST</Synonym>
+              <Synonym lang="en">complex I 20kDa subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115286</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFS7</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O75251</Reference>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S8</Name>
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+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18306244[PMID]_22644603[PMID]</SourceOfValidation>
+          <Gene id="18352">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A11</Name>
+            <Symbol>NDUFA11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">B14.7</Synonym>
+              <Synonym lang="en">complex I B14.7 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57197">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174886</Reference>
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+              <ExternalReference id="41686">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA11</Reference>
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+              <ExternalReference id="41687">
+                <Source>HGNC</Source>
+                <Reference>20371</Reference>
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+              <ExternalReference id="41688">
+                <Source>OMIM</Source>
+                <Reference>612638</Reference>
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+              <ExternalReference id="57198">
+                <Source>Reactome</Source>
+                <Reference>Q86Y39</Reference>
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+              <ExternalReference id="41689">
+                <Source>SwissProt</Source>
+                <Reference>Q86Y39</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19463981[PMID]_22644603[PMID]</SourceOfValidation>
+          <Gene id="18461">
+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 3</Name>
+            <Symbol>NDUFAF3</Symbol>
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+              <Synonym lang="en">2P1</Synonym>
+              <Synonym lang="en">DKFZP564J0123</Synonym>
+              <Synonym lang="en">E3-3</Synonym>
+              <Synonym lang="en">MGC10527</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57203">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178057</Reference>
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+              <ExternalReference id="46819">
+                <Source>Genatlas</Source>
+                <Reference>NDUFAF3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29918</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612911</Reference>
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+              <ExternalReference id="97281">
+                <Source>Reactome</Source>
+                <Reference>Q9BU61</Reference>
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+                <Reference>Q9BU61</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20818383[PMID]_22644603[PMID]_23553477[PMID]</SourceOfValidation>
+          <Gene id="19482">
+            <Name lang="en">NUBP iron-sulfur cluster assembly factor, mitochondrial</Name>
+            <Symbol>NUBPL</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ12660</Synonym>
+              <Synonym lang="en">IND1</Synonym>
+              <Synonym lang="en">huInd1</Synonym>
+              <Synonym lang="en">iron-sulfur protein required for NADH dehydrogenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000151413</Reference>
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+              <ExternalReference id="49308">
+                <Source>Genatlas</Source>
+                <Reference>NUBPL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20278</Reference>
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+              <ExternalReference id="98086">
+                <Source>Reactome</Source>
+                <Reference>Q8TB37</Reference>
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+                <Reference>Q8TB37</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20858599[PMID]</SourceOfValidation>
+          <Gene id="19483">
+            <Name lang="en">FAD dependent oxidoreductase domain containing 1</Name>
+            <Symbol>FOXRED1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110074</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>26927</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17557076[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6M9</Reference>
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+              <Synonym lang="en">complex I B12 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000258839</Reference>
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+            <Name lang="en">NRAS proto-oncogene, GTPase</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="32290">
+                <Source>Genatlas</Source>
+                <Reference>PEX7</Reference>
+              </ExternalReference>
+              <ExternalReference id="32288">
+                <Source>HGNC</Source>
+                <Reference>8860</Reference>
+              </ExternalReference>
+              <ExternalReference id="32287">
+                <Source>OMIM</Source>
+                <Reference>601757</Reference>
+              </ExternalReference>
+              <ExternalReference id="33752">
+                <Source>SwissProt</Source>
+                <Reference>O00628</Reference>
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+              <ExternalReference id="57222">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112357</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22471">
+                <GeneLocus>6q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17829">
+      <OrphaCode>169154</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169154</ExpertLink>
+      <Name lang="en">T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17386">
+            <Name lang="en">interleukin 7 receptor</Name>
+            <Symbol>IL7R</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD127</Synonym>
+              <Synonym lang="en">IL7RA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190427">
+                <Source>IUPHAR</Source>
+                <Reference>1698</Reference>
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+              <ExternalReference id="60203">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168685</Reference>
+              </ExternalReference>
+              <ExternalReference id="37179">
+                <Source>Genatlas</Source>
+                <Reference>IL7R</Reference>
+              </ExternalReference>
+              <ExternalReference id="37180">
+                <Source>HGNC</Source>
+                <Reference>6024</Reference>
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+              <ExternalReference id="37181">
+                <Source>OMIM</Source>
+                <Reference>146661</Reference>
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+              <ExternalReference id="60204">
+                <Source>Reactome</Source>
+                <Reference>P16871</Reference>
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+              <ExternalReference id="37182">
+                <Source>SwissProt</Source>
+                <Reference>P16871</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17828">
+      <OrphaCode>169150</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169150</ExpertLink>
+      <Name lang="en">Immunodeficiency due to a late component of complement deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17449">
+            <Name lang="en">complement C5</Name>
+            <Symbol>C5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C5a</Synonym>
+              <Synonym lang="en">C5a anaphylatoxin</Synonym>
+              <Synonym lang="en">C5b</Synonym>
+              <Synonym lang="en">CPAMD4</Synonym>
+              <Synonym lang="en">prepro-C5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60189">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106804</Reference>
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+              <ExternalReference id="38126">
+                <Source>Genatlas</Source>
+                <Reference>C5</Reference>
+              </ExternalReference>
+              <ExternalReference id="38127">
+                <Source>HGNC</Source>
+                <Reference>1331</Reference>
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+              <ExternalReference id="38128">
+                <Source>OMIM</Source>
+                <Reference>120900</Reference>
+              </ExternalReference>
+              <ExternalReference id="60190">
+                <Source>Reactome</Source>
+                <Reference>P01031</Reference>
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+              <ExternalReference id="38129">
+                <Source>SwissProt</Source>
+                <Reference>P01031</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>9q33.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17451">
+            <Name lang="en">complement C6</Name>
+            <Symbol>C6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60191">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000039537</Reference>
+              </ExternalReference>
+              <ExternalReference id="38136">
+                <Source>Genatlas</Source>
+                <Reference>C6</Reference>
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+              <ExternalReference id="38137">
+                <Source>HGNC</Source>
+                <Reference>1339</Reference>
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+              <ExternalReference id="38138">
+                <Source>OMIM</Source>
+                <Reference>217050</Reference>
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+              <ExternalReference id="60192">
+                <Source>Reactome</Source>
+                <Reference>P13671</Reference>
+              </ExternalReference>
+              <ExternalReference id="38139">
+                <Source>SwissProt</Source>
+                <Reference>P13671</Reference>
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+                <GeneLocus>5p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17452">
+            <Name lang="en">complement C7</Name>
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+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60193">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112936</Reference>
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+              <ExternalReference id="38141">
+                <Source>Genatlas</Source>
+                <Reference>C7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1346</Reference>
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+                <Source>OMIM</Source>
+                <Reference>217070</Reference>
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+              <ExternalReference id="60194">
+                <Source>Reactome</Source>
+                <Reference>P10643</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10643</Reference>
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+                <GeneLocus>5p13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17453">
+            <Name lang="en">complement C8 alpha chain</Name>
+            <Symbol>C8A</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60195">
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+                <Reference>ENSG00000157131</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C8A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1352</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120950</Reference>
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+              <ExternalReference id="60196">
+                <Source>Reactome</Source>
+                <Reference>P07357</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07357</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="17454">
+            <Name lang="en">complement C8 beta chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60197">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000021852</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1353</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000176919</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P07360</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02748</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113600</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167286</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1673</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198851</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="19028">
+            <Name lang="en">CD247 molecule</Name>
+            <Symbol>CD247</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">CD3Q</Synonym>
+              <Synonym lang="en">T-cell surface glycoprotein CD3 zeta chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">T-B+ severe combined immunodeficiency due to CD45 deficiency</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11145714[PMID]</SourceOfValidation>
+          <Gene id="15171">
+            <Name lang="en">protein tyrosine phosphatase receptor type C</Name>
+            <Symbol>PTPRC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GP180</Synonym>
+              <Synonym lang="en">LCA</Synonym>
+              <Synonym lang="en">T200</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60205">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081237</Reference>
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+              <ExternalReference id="25246">
+                <Source>Genatlas</Source>
+                <Reference>PTPRC</Reference>
+              </ExternalReference>
+              <ExternalReference id="25248">
+                <Source>HGNC</Source>
+                <Reference>9666</Reference>
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+              <ExternalReference id="25247">
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+                <Reference>151460</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08575</Reference>
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+              <ExternalReference id="33695">
+                <Source>SwissProt</Source>
+                <Reference>P08575</Reference>
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+              <ExternalReference id="193552">
+                <Source>IUPHAR</Source>
+                <Reference>1852</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66513">
+                <GeneLocus>1q31.3-q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="353">
+      <OrphaCode>1947</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1947</ExpertLink>
+      <Name lang="en">Progressive epilepsy-intellectual disability syndrome, Finnish type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15754">
+            <Name lang="en">CLN8 transmembrane ER and ERGIC protein</Name>
+            <Symbol>CLN8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ39417</Synonym>
+              <Synonym lang="en">TLCD6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="28028">
+                <Source>HGNC</Source>
+                <Reference>2079</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607837</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UBY8</Reference>
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+              <ExternalReference id="57174">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182372</Reference>
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+              <ExternalReference id="28026">
+                <Source>Genatlas</Source>
+                <Reference>CLN8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17827">
+      <OrphaCode>169147</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169147</ExpertLink>
+      <Name lang="en">Immunodeficiency due to a classical component pathway complement deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15385">
+            <Name lang="en">complement C2</Name>
+            <Symbol>C2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="51405">
+                <Source>OMIM</Source>
+                <Reference>613927</Reference>
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+              <ExternalReference id="60184">
+                <Source>Reactome</Source>
+                <Reference>P06681</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P06681</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166278</Reference>
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+              <ExternalReference id="26265">
+                <Source>Genatlas</Source>
+                <Reference>C2</Reference>
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+              <ExternalReference id="26267">
+                <Source>HGNC</Source>
+                <Reference>1248</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17447">
+            <Name lang="en">complement C4A (Rodgers blood group)</Name>
+            <Symbol>C4A</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">C4</Synonym>
+              <Synonym lang="en">C4A2</Synonym>
+              <Synonym lang="en">C4A3</Synonym>
+              <Synonym lang="en">C4A4</Synonym>
+              <Synonym lang="en">C4A6</Synonym>
+              <Synonym lang="en">C4B</Synonym>
+              <Synonym lang="en">C4S</Synonym>
+              <Synonym lang="en">CO4</Synonym>
+              <Synonym lang="en">CPAMD2</Synonym>
+              <Synonym lang="en">RG</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244731</Reference>
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+                <Reference>C4A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1323</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120810</Reference>
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+              <ExternalReference id="60186">
+                <Source>Reactome</Source>
+                <Reference>P0C0L4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0C0L4</Reference>
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+                <LocusKey>1</LocusKey>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17448">
+            <Name lang="en">complement C4B (Chido blood group)</Name>
+            <Symbol>C4B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">C4B1</Synonym>
+              <Synonym lang="en">C4B3</Synonym>
+              <Synonym lang="en">C4F</Synonym>
+              <Synonym lang="en">CH</Synonym>
+              <Synonym lang="en">CO4</Synonym>
+              <Synonym lang="en">CPAMD3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>120820</Reference>
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+              <ExternalReference id="60188">
+                <Source>Reactome</Source>
+                <Reference>P0C0L5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0C0L5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000224389</Reference>
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+                <Source>Genatlas</Source>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="18951">
+            <Name lang="en">complement C1q A chain</Name>
+            <Symbol>C1QA</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173372</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C1QA</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02745</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18952">
+            <Name lang="en">complement C1q B chain</Name>
+            <Symbol>C1QB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">complement C1r</Name>
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+                <Source>Reactome</Source>
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+                <Reference>1836</Reference>
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+              <Synonym lang="en">SWI/SNF complex 60 kDa subunit B</Synonym>
+              <Synonym lang="en">Swp73-like protein</Synonym>
+              <Synonym lang="en">chromatin remodeling complex BAF60B subunit</Synonym>
+              <Synonym lang="en">mammalian chromatin remodeling complex BRG1-associated factor 60B</Synonym>
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+                <Reference>11107</Reference>
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+              <ExternalReference id="152775">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108604</Reference>
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+              <ExternalReference id="152776">
+                <Source>SwissProt</Source>
+                <Reference>Q92925</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601736</Reference>
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+              <ExternalReference id="152778">
+                <Source>Genatlas</Source>
+                <Reference>SMARCD2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92925</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="364">
+      <OrphaCode>596</OrphaCode>
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+      <Name lang="en">X-linked centronuclear myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301605[PMID]</SourceOfValidation>
+          <Gene id="16476">
+            <Name lang="en">myotubularin 1</Name>
+            <Symbol>MTM1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57185">
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+                <Reference>ENSG00000171100</Reference>
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+              <ExternalReference id="31478">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>300415</Reference>
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+              <ExternalReference id="83002">
+                <Source>Reactome</Source>
+                <Reference>Q13496</Reference>
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+              <ExternalReference id="33541">
+                <Source>SwissProt</Source>
+                <Reference>Q13496</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Bethlem myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301676[PMID]</SourceOfValidation>
+          <Gene id="15778">
+            <Name lang="en">collagen type VI alpha 1 chain</Name>
+            <Symbol>COL6A1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142156</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL6A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2211</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P12109</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301676[PMID]</SourceOfValidation>
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+            <Name lang="en">collagen type VI alpha 2 chain</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000142173</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL6A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2212</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301676[PMID]</SourceOfValidation>
+          <Gene id="15780">
+            <Name lang="en">collagen type VI alpha 3 chain</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163359</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2213</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120250</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">collagen type XII proteoglycan</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
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+                <Source>Reactome</Source>
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+    <Disorder id="17834">
+      <OrphaCode>169189</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=169189</ExpertLink>
+      <Name lang="en">Autosomal dominant centronuclear myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
+              </ExternalReference>
+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15855">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16227997[PMID]</SourceOfValidation>
+          <Gene id="15882">
+            <Name lang="en">dynamin 2</Name>
+            <Symbol>DNM2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CMT2M</Synonym>
+              <Synonym lang="en">CMTDI1</Synonym>
+              <Synonym lang="en">CMTDIB</Synonym>
+              <Synonym lang="en">DI-CMTB</Synonym>
+              <Synonym lang="en">DYN2</Synonym>
+              <Synonym lang="en">DYNII</Synonym>
+              <Synonym lang="en">cytoskeletal protein</Synonym>
+              <Synonym lang="en">dynamin II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59981">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079805</Reference>
+              </ExternalReference>
+              <ExternalReference id="28636">
+                <Source>Genatlas</Source>
+                <Reference>DNM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28634">
+                <Source>HGNC</Source>
+                <Reference>2974</Reference>
+              </ExternalReference>
+              <ExternalReference id="28633">
+                <Source>OMIM</Source>
+                <Reference>602378</Reference>
+              </ExternalReference>
+              <ExternalReference id="59982">
+                <Source>Reactome</Source>
+                <Reference>P50570</Reference>
+              </ExternalReference>
+              <ExternalReference id="32893">
+                <Source>SwissProt</Source>
+                <Reference>P50570</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18679">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16495">
+            <Name lang="en">myogenic factor 6</Name>
+            <Symbol>MYF6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MRF4</Synonym>
+              <Synonym lang="en">bHLHc4</Synonym>
+              <Synonym lang="en">herculin</Synonym>
+              <Synonym lang="en">muscle-specific regulatory factor 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60214">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111046</Reference>
+              </ExternalReference>
+              <ExternalReference id="37535">
+                <Source>Genatlas</Source>
+                <Reference>MYF6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31564">
+                <Source>HGNC</Source>
+                <Reference>7566</Reference>
+              </ExternalReference>
+              <ExternalReference id="31563">
+                <Source>OMIM</Source>
+                <Reference>159991</Reference>
+              </ExternalReference>
+              <ExternalReference id="60215">
+                <Source>Reactome</Source>
+                <Reference>P23409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33560">
+                <Source>SwissProt</Source>
+                <Reference>P23409</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15889">
+                <GeneLocus>12q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25260562[PMID]</SourceOfValidation>
+          <Gene id="16862">
+            <Name lang="en">bridging integrator 1</Name>
+            <Symbol>BIN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AMPH2</Synonym>
+              <Synonym lang="en">SH3P9</Synonym>
+              <Synonym lang="en">amphiphysin II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126369">
+                <Source>Reactome</Source>
+                <Reference>O00499</Reference>
+              </ExternalReference>
+              <ExternalReference id="35267">
+                <Source>Genatlas</Source>
+                <Reference>BIN1</Reference>
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+              <ExternalReference id="35268">
+                <Source>HGNC</Source>
+                <Reference>1052</Reference>
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+              <ExternalReference id="35269">
+                <Source>OMIM</Source>
+                <Reference>601248</Reference>
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+              <ExternalReference id="35266">
+                <Source>SwissProt</Source>
+                <Reference>O00499</Reference>
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+              <ExternalReference id="60213">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136717</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26723">
+                <GeneLocus>2q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17008356[PMID]</SourceOfValidation>
+          <Gene id="16870">
+            <Name lang="en">myotubularin related protein 14</Name>
+            <Symbol>MTMR14</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ22405</Synonym>
+              <Synonym lang="en">FLJ90311</Synonym>
+              <Synonym lang="en">egg-derived tyrosine phosphatase homolog (Drosophila)</Synonym>
+              <Synonym lang="en">hEDTP</Synonym>
+              <Synonym lang="en">hJumpy</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60216">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163719</Reference>
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+              <ExternalReference id="35308">
+                <Source>Genatlas</Source>
+                <Reference>MTMR14</Reference>
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+              <ExternalReference id="35307">
+                <Source>HGNC</Source>
+                <Reference>26190</Reference>
+              </ExternalReference>
+              <ExternalReference id="35309">
+                <Source>OMIM</Source>
+                <Reference>611089</Reference>
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+              <ExternalReference id="83053">
+                <Source>Reactome</Source>
+                <Reference>Q8NCE2</Reference>
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+              <ExternalReference id="35306">
+                <Source>SwissProt</Source>
+                <Reference>Q8NCE2</Reference>
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+            <LocusList count="1">
+              <Locus id="23583">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="410">
+      <OrphaCode>44</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=44</ExpertLink>
+      <Name lang="en">Neonatal adrenoleukodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="13">
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+          <Gene id="15175">
+            <Name lang="en">peroxisomal biogenesis factor 2</Name>
+            <Symbol>PEX2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">PAF-1</Synonym>
+              <Synonym lang="en">PMP35</Synonym>
+              <Synonym lang="en">RNF72</Synonym>
+              <Synonym lang="en">ZWS3</Synonym>
+              <Synonym lang="en">Zellweger syndrome</Synonym>
+              <Synonym lang="en">peroxin 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143032">
+                <Source>Reactome</Source>
+                <Reference>P28328</Reference>
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+              <ExternalReference id="57017">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164751</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PXMP3</Reference>
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+              <ExternalReference id="25268">
+                <Source>HGNC</Source>
+                <Reference>9717</Reference>
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+              <ExternalReference id="25267">
+                <Source>OMIM</Source>
+                <Reference>170993</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P28328</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16637">
+            <Name lang="en">peroxisomal biogenesis factor 1</Name>
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+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127980</Reference>
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+              <ExternalReference id="32239">
+                <Source>Genatlas</Source>
+                <Reference>PEX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8850</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602136</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16638">
+            <Name lang="en">peroxisomal biogenesis factor 10</Name>
+            <Symbol>PEX10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RNF69</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143152">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57023">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157911</Reference>
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+              <ExternalReference id="37559">
+                <Source>Genatlas</Source>
+                <Reference>PEX10</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8851</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602859</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60683</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16639">
+            <Name lang="en">peroxisomal biogenesis factor 12</Name>
+            <Symbol>PEX12</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>O00623</Reference>
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+              <ExternalReference id="57012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108733</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation/>
+          <Gene id="16640">
+            <Name lang="en">peroxisomal biogenesis factor 13</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q92968</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162928</Reference>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">peroxisomal biogenesis factor 14</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>8856</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>O75381</Reference>
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+            <Name lang="en">Assessed</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16643">
+            <Name lang="en">peroxisomal biogenesis factor 19</Name>
+            <Symbol>PEX19</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">D1S2223E</Synonym>
+              <Synonym lang="en">HK33</Synonym>
+              <Synonym lang="en">PMP1</Synonym>
+              <Synonym lang="en">PMPI</Synonym>
+              <Synonym lang="en">PXMP1</Synonym>
+              <Synonym lang="en">housekeeping gene, 33kD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57015">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162735</Reference>
+              </ExternalReference>
+              <ExternalReference id="32267">
+                <Source>Genatlas</Source>
+                <Reference>PEX19</Reference>
+              </ExternalReference>
+              <ExternalReference id="32265">
+                <Source>HGNC</Source>
+                <Reference>9713</Reference>
+              </ExternalReference>
+              <ExternalReference id="32264">
+                <Source>OMIM</Source>
+                <Reference>600279</Reference>
+              </ExternalReference>
+              <ExternalReference id="57016">
+                <Source>Reactome</Source>
+                <Reference>P40855</Reference>
+              </ExternalReference>
+              <ExternalReference id="33747">
+                <Source>SwissProt</Source>
+                <Reference>P40855</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24331">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16644">
+            <Name lang="en">peroxisomal biogenesis factor 26</Name>
+            <Symbol>PEX26</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20695</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143972">
+                <Source>Reactome</Source>
+                <Reference>Q7Z412</Reference>
+              </ExternalReference>
+              <ExternalReference id="32270">
+                <Source>HGNC</Source>
+                <Reference>22965</Reference>
+              </ExternalReference>
+              <ExternalReference id="32269">
+                <Source>OMIM</Source>
+                <Reference>608666</Reference>
+              </ExternalReference>
+              <ExternalReference id="33748">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z412</Reference>
+              </ExternalReference>
+              <ExternalReference id="57025">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000215193</Reference>
+              </ExternalReference>
+              <ExternalReference id="36880">
+                <Source>Genatlas</Source>
+                <Reference>PEX26</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39413">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16645">
+            <Name lang="en">peroxisomal biogenesis factor 3</Name>
+            <Symbol>PEX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57018">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000034693</Reference>
+              </ExternalReference>
+              <ExternalReference id="37560">
+                <Source>Genatlas</Source>
+                <Reference>PEX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32274">
+                <Source>HGNC</Source>
+                <Reference>8858</Reference>
+              </ExternalReference>
+              <ExternalReference id="32273">
+                <Source>OMIM</Source>
+                <Reference>603164</Reference>
+              </ExternalReference>
+              <ExternalReference id="57019">
+                <Source>Reactome</Source>
+                <Reference>P56589</Reference>
+              </ExternalReference>
+              <ExternalReference id="33749">
+                <Source>SwissProt</Source>
+                <Reference>P56589</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9649">
+                <GeneLocus>6q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16646">
+            <Name lang="en">peroxisomal biogenesis factor 5</Name>
+            <Symbol>PEX5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PTS1R</Synonym>
+              <Synonym lang="en">peroxisomal import receptor 5</Synonym>
+              <Synonym lang="en">peroxisomal targeting signal 1 receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143858">
+                <Source>Reactome</Source>
+                <Reference>P50542</Reference>
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+              <ExternalReference id="57020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139197</Reference>
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+              <ExternalReference id="32280">
+                <Source>Genatlas</Source>
+                <Reference>PEX5</Reference>
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+              <ExternalReference id="32278">
+                <Source>HGNC</Source>
+                <Reference>9719</Reference>
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+              <ExternalReference id="32277">
+                <Source>OMIM</Source>
+                <Reference>600414</Reference>
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+              <ExternalReference id="33750">
+                <Source>SwissProt</Source>
+                <Reference>P50542</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16647">
+            <Name lang="en">peroxisomal biogenesis factor 6</Name>
+            <Symbol>PEX6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PAF-2</Synonym>
+              <Synonym lang="en">PXAAA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57021">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124587</Reference>
+              </ExternalReference>
+              <ExternalReference id="32282">
+                <Source>Genatlas</Source>
+                <Reference>PEX6</Reference>
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+              <ExternalReference id="32284">
+                <Source>HGNC</Source>
+                <Reference>8859</Reference>
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+              <ExternalReference id="32283">
+                <Source>OMIM</Source>
+                <Reference>601498</Reference>
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+              <ExternalReference id="33751">
+                <Source>SwissProt</Source>
+                <Reference>Q13608</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21571">
+            <Name lang="en">peroxisomal biogenesis factor 11 beta</Name>
+            <Symbol>PEX11B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142916">
+                <Source>Reactome</Source>
+                <Reference>O96011</Reference>
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+              <ExternalReference id="83540">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131779</Reference>
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+              <ExternalReference id="74729">
+                <Source>Genatlas</Source>
+                <Reference>PEX11B</Reference>
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+              <ExternalReference id="74727">
+                <Source>HGNC</Source>
+                <Reference>8853</Reference>
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+              <ExternalReference id="74728">
+                <Source>OMIM</Source>
+                <Reference>603867</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O96011</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="411">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=56</ExpertLink>
+      <Name lang="en">Alkaptonuria</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301627[PMID]</SourceOfValidation>
+          <Gene id="16196">
+            <Name lang="en">homogentisate 1,2-dioxygenase</Name>
+            <Symbol>HGD</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">homogentisate oxidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57245">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113924</Reference>
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+              <ExternalReference id="30167">
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+                <Reference>HGD</Reference>
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+                <Reference>4892</Reference>
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+              <ExternalReference id="30168">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57246">
+                <Source>Reactome</Source>
+                <Reference>Q93099</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q93099</Reference>
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+      <Name lang="en">Acromegaly</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>AIP</Symbol>
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+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25470569[PMID]</SourceOfValidation>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Blue rubber bleb nevus</Name>
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+            <Symbol>TEK</Symbol>
+            <SynonymList count="5">
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+                <Reference>ENSG00000120156</Reference>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>ALDH5A1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112294</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>408</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="403">
+      <OrphaCode>29</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=29</ExpertLink>
+      <Name lang="en">Mevalonic aciduria</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16491">
+            <Name lang="en">mevalonate kinase</Name>
+            <Symbol>MVK</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LH receptor mRNA-binding protein</Synonym>
+              <Synonym lang="en">LRBP</Synonym>
+              <Synonym lang="en">MK</Synonym>
+              <Synonym lang="en">mevalonic aciduria</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110921</Reference>
+              </ExternalReference>
+              <ExternalReference id="31547">
+                <Source>Genatlas</Source>
+                <Reference>MVK</Reference>
+              </ExternalReference>
+              <ExternalReference id="31545">
+                <Source>HGNC</Source>
+                <Reference>7530</Reference>
+              </ExternalReference>
+              <ExternalReference id="83005">
+                <Source>IUPHAR</Source>
+                <Reference>640</Reference>
+              </ExternalReference>
+              <ExternalReference id="31544">
+                <Source>OMIM</Source>
+                <Reference>251170</Reference>
+              </ExternalReference>
+              <ExternalReference id="57236">
+                <Source>Reactome</Source>
+                <Reference>Q03426</Reference>
+              </ExternalReference>
+              <ExternalReference id="33556">
+                <Source>SwissProt</Source>
+                <Reference>Q03426</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24533">
+                <GeneLocus>12q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="407">
+      <OrphaCode>245</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=245</ExpertLink>
+      <Name lang="en">Nager syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22541558[PMID]</SourceOfValidation>
+          <Gene id="21159">
+            <Name lang="en">splicing factor 3b subunit 4</Name>
+            <Symbol>SF3B4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Hsh49</Synonym>
+              <Synonym lang="en">SAP49</Synonym>
+              <Synonym lang="en">SF3b49</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83383">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143368</Reference>
+              </ExternalReference>
+              <ExternalReference id="69536">
+                <Source>Genatlas</Source>
+                <Reference>SF3B4</Reference>
+              </ExternalReference>
+              <ExternalReference id="69534">
+                <Source>HGNC</Source>
+                <Reference>10771</Reference>
+              </ExternalReference>
+              <ExternalReference id="69535">
+                <Source>OMIM</Source>
+                <Reference>605593</Reference>
+              </ExternalReference>
+              <ExternalReference id="83382">
+                <Source>Reactome</Source>
+                <Reference>Q15427</Reference>
+              </ExternalReference>
+              <ExternalReference id="69537">
+                <Source>SwissProt</Source>
+                <Reference>Q15427</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11969">
+                <GeneLocus>1q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="404">
+      <OrphaCode>30</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=30</ExpertLink>
+      <Name lang="en">Hereditary orotic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9042911[PMID]_19562503[PMID]</SourceOfValidation>
+          <Gene id="15693">
+            <Name lang="en">uridine monophosphate synthetase</Name>
+            <Symbol>UMPS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">orotate phosphoribosyl transferase and orotidine-5'-decarboxylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57237">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114491</Reference>
+              </ExternalReference>
+              <ExternalReference id="27744">
+                <Source>Genatlas</Source>
+                <Reference>UMPS</Reference>
+              </ExternalReference>
+              <ExternalReference id="27746">
+                <Source>HGNC</Source>
+                <Reference>12563</Reference>
+              </ExternalReference>
+              <ExternalReference id="51397">
+                <Source>OMIM</Source>
+                <Reference>613891</Reference>
+              </ExternalReference>
+              <ExternalReference id="57238">
+                <Source>Reactome</Source>
+                <Reference>P11172</Reference>
+              </ExternalReference>
+              <ExternalReference id="32665">
+                <Source>SwissProt</Source>
+                <Reference>P11172</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23305">
+                <GeneLocus>3q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="405">
+      <OrphaCode>36</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=36</ExpertLink>
+      <Name lang="en">Acrocallosal syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23633388[PMID]_12414818[PMID]</SourceOfValidation>
+          <Gene id="16139">
+            <Name lang="en">GLI family zinc finger 3</Name>
+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106571</Reference>
+              </ExternalReference>
+              <ExternalReference id="29898">
+                <Source>Genatlas</Source>
+                <Reference>GLI3</Reference>
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+              <ExternalReference id="29896">
+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
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+              <ExternalReference id="29895">
+                <Source>OMIM</Source>
+                <Reference>165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="97225">
+                <Source>Reactome</Source>
+                <Reference>P10071</Reference>
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+              <ExternalReference id="33155">
+                <Source>SwissProt</Source>
+                <Reference>P10071</Reference>
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+            <LocusList count="1">
+              <Locus id="21229">
+                <GeneLocus>7p14.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21552264[PMID]_23142271[PMID]</SourceOfValidation>
+          <Gene id="20160">
+            <Name lang="en">kinesin family member 7</Name>
+            <Symbol>KIF7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JBTS12</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57240">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166813</Reference>
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+              <ExternalReference id="51758">
+                <Source>Genatlas</Source>
+                <Reference>KIF7</Reference>
+              </ExternalReference>
+              <ExternalReference id="51756">
+                <Source>HGNC</Source>
+                <Reference>30497</Reference>
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+              <ExternalReference id="51757">
+                <Source>OMIM</Source>
+                <Reference>611254</Reference>
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+              <ExternalReference id="97306">
+                <Source>Reactome</Source>
+                <Reference>Q2M1P5</Reference>
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+              <ExternalReference id="51759">
+                <Source>SwissProt</Source>
+                <Reference>Q2M1P5</Reference>
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+            <LocusList count="1">
+              <Locus id="16859">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="394">
+      <OrphaCode>915</OrphaCode>
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+      <Name lang="en">Aarskog-Scott syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="16042">
+            <Name lang="en">FYVE, RhoGEF and PH domain containing 1</Name>
+            <Symbol>FGD1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ZFYVE3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="29411">
+                <Source>HGNC</Source>
+                <Reference>3663</Reference>
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+              <ExternalReference id="29410">
+                <Source>OMIM</Source>
+                <Reference>300546</Reference>
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+              <ExternalReference id="57230">
+                <Source>Reactome</Source>
+                <Reference>P98174</Reference>
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+              <ExternalReference id="33056">
+                <Source>SwissProt</Source>
+                <Reference>P98174</Reference>
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+              <ExternalReference id="57229">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102302</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGD1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Nail-patella syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301311[PMID]</SourceOfValidation>
+          <Gene id="16367">
+            <Name lang="en">LIM homeobox transcription factor 1 beta</Name>
+            <Symbol>LMX1B</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136944</Reference>
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+              <ExternalReference id="37512">
+                <Source>Genatlas</Source>
+                <Reference>LMX1B</Reference>
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+              <ExternalReference id="30977">
+                <Source>HGNC</Source>
+                <Reference>6654</Reference>
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+              <ExternalReference id="30976">
+                <Source>OMIM</Source>
+                <Reference>602575</Reference>
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+              <ExternalReference id="33432">
+                <Source>SwissProt</Source>
+                <Reference>O60663</Reference>
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+                <GeneLocus>9q33.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Isovaleric acidemia</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16277">
+            <Name lang="en">isovaleryl-CoA dehydrogenase</Name>
+            <Symbol>IVD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ACAD2</Synonym>
+              <Synonym lang="en">IVDH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128928</Reference>
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+                <Reference>6186</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607036</Reference>
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+              <ExternalReference id="57232">
+                <Source>Reactome</Source>
+                <Reference>P26440</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P26440</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=819</ExpertLink>
+      <Name lang="en">Smith-Magenis syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="23144">
+            <Name lang="en">DEAF1 transcription factor</Name>
+            <Symbol>DEAF1</Symbol>
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+              <Synonym lang="en">SPN</Synonym>
+              <Synonym lang="en">ZMYND5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>DEAF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14677</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602635</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75398</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75398</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301487[PMID]</SourceOfValidation>
+          <Gene id="15186">
+            <Name lang="en">retinoic acid induced 1</Name>
+            <Symbol>RAI1</Symbol>
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+              <Synonym lang="en">KIAA1820</Synonym>
+              <Synonym lang="en">MGC12824</Synonym>
+              <Synonym lang="en">SMS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000108557</Reference>
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+                <Reference>9834</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607642</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z5J4</Reference>
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+                <Reference>Q7Z5J4</Reference>
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+              <Locus id="16571">
+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9177775[PMID]_7825574[PMID]_15690371[PMID]</SourceOfValidation>
+          <Gene id="16057">
+            <Name lang="en">FLII actin remodeling protein</Name>
+            <Symbol>FLII</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLI</Synonym>
+              <Synonym lang="en">FLIL</Synonym>
+              <Synonym lang="en">Fli1</Synonym>
+              <Synonym lang="en">MGC39265</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="29500">
+                <Source>OMIM</Source>
+                <Reference>600362</Reference>
+              </ExternalReference>
+              <ExternalReference id="33072">
+                <Source>SwissProt</Source>
+                <Reference>Q13045</Reference>
+              </ExternalReference>
+              <ExternalReference id="57225">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177731</Reference>
+              </ExternalReference>
+              <ExternalReference id="37461">
+                <Source>Genatlas</Source>
+                <Reference>FLII</Reference>
+              </ExternalReference>
+              <ExternalReference id="29501">
+                <Source>HGNC</Source>
+                <Reference>3750</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8557">
+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28213671[PMID]</SourceOfValidation>
+          <Gene id="19225">
+            <Name lang="en">IQ motif and Sec7 domain ArfGEF 2</Name>
+            <Symbol>IQSEC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BRAG1</Synonym>
+              <Synonym lang="en">IQ-ArfGEF</Synonym>
+              <Synonym lang="en">KIAA0522</Synonym>
+              <Synonym lang="en">brefeldin A resistant Arf-guanine nucleotide exchange factor 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58456">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124313</Reference>
+              </ExternalReference>
+              <ExternalReference id="46430">
+                <Source>Genatlas</Source>
+                <Reference>IQSEC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="46431">
+                <Source>HGNC</Source>
+                <Reference>29059</Reference>
+              </ExternalReference>
+              <ExternalReference id="46433">
+                <Source>OMIM</Source>
+                <Reference>300522</Reference>
+              </ExternalReference>
+              <ExternalReference id="46432">
+                <Source>SwissProt</Source>
+                <Reference>Q5JU85</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24171">
+                <GeneLocus>Xp11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17785">
+      <OrphaCode>168615</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168615</ExpertLink>
+      <Name lang="en">Hereditary persistence of alpha-fetoprotein</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7684942[PMID]</SourceOfValidation>
+          <Gene id="17974">
+            <Name lang="en">alpha fetoprotein</Name>
+            <Symbol>AFP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FETA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143968">
+                <Source>Reactome</Source>
+                <Reference>P02771</Reference>
+              </ExternalReference>
+              <ExternalReference id="60155">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081051</Reference>
+              </ExternalReference>
+              <ExternalReference id="40553">
+                <Source>Genatlas</Source>
+                <Reference>AFP</Reference>
+              </ExternalReference>
+              <ExternalReference id="40554">
+                <Source>HGNC</Source>
+                <Reference>317</Reference>
+              </ExternalReference>
+              <ExternalReference id="40555">
+                <Source>OMIM</Source>
+                <Reference>104150</Reference>
+              </ExternalReference>
+              <ExternalReference id="40556">
+                <Source>SwissProt</Source>
+                <Reference>P02771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39405">
+                <GeneLocus>4q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17784">
+      <OrphaCode>168612</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168612</ExpertLink>
+      <Name lang="en">Congenital deficiency in alpha-fetoprotein</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15280901[PMID]</SourceOfValidation>
+          <Gene id="17974">
+            <Name lang="en">alpha fetoprotein</Name>
+            <Symbol>AFP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FETA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143968">
+                <Source>Reactome</Source>
+                <Reference>P02771</Reference>
+              </ExternalReference>
+              <ExternalReference id="60155">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081051</Reference>
+              </ExternalReference>
+              <ExternalReference id="40553">
+                <Source>Genatlas</Source>
+                <Reference>AFP</Reference>
+              </ExternalReference>
+              <ExternalReference id="40554">
+                <Source>HGNC</Source>
+                <Reference>317</Reference>
+              </ExternalReference>
+              <ExternalReference id="40555">
+                <Source>OMIM</Source>
+                <Reference>104150</Reference>
+              </ExternalReference>
+              <ExternalReference id="40556">
+                <Source>SwissProt</Source>
+                <Reference>P02771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39405">
+                <GeneLocus>4q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="443">
+      <OrphaCode>1452</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1452</ExpertLink>
+      <Name lang="en">Cleidocranial dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15236">
+            <Name lang="en">RUNX family transcription factor 2</Name>
+            <Symbol>RUNX2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AML3</Synonym>
+              <Synonym lang="en">PEBP2A1</Synonym>
+              <Synonym lang="en">PEBP2aA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57293">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124813</Reference>
+              </ExternalReference>
+              <ExternalReference id="25549">
+                <Source>Genatlas</Source>
+                <Reference>RUNX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25551">
+                <Source>HGNC</Source>
+                <Reference>10472</Reference>
+              </ExternalReference>
+              <ExternalReference id="25550">
+                <Source>OMIM</Source>
+                <Reference>600211</Reference>
+              </ExternalReference>
+              <ExternalReference id="57294">
+                <Source>Reactome</Source>
+                <Reference>Q13950</Reference>
+              </ExternalReference>
+              <ExternalReference id="33794">
+                <Source>SwissProt</Source>
+                <Reference>Q13950</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24421">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17789">
+      <OrphaCode>168629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168629</ExpertLink>
+      <Name lang="en">Autosomal thrombocytopenia with normal platelets</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31217188[PMID]</SourceOfValidation>
+          <Gene id="29247">
+            <Name lang="en">IKAROS family zinc finger 5</Name>
+            <Symbol>IKZF5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22973</Synonym>
+              <Synonym lang="en">Pegasus</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189473">
+                <Source>HGNC</Source>
+                <Reference>14283</Reference>
+              </ExternalReference>
+              <ExternalReference id="193514">
+                <Source>OMIM</Source>
+                <Reference>606238</Reference>
+              </ExternalReference>
+              <ExternalReference id="193513">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095574</Reference>
+              </ExternalReference>
+              <ExternalReference id="201582">
+                <Source>SwissProt</Source>
+                <Reference>Q9H5V7</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="82139">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12890928[PMID]</SourceOfValidation>
+          <Gene id="16380">
+            <Name lang="en">microtubule associated serine/threonine kinase like</Name>
+            <Symbol>MASTL</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ14813</Synonym>
+              <Synonym lang="en">Gwl</Synonym>
+              <Synonym lang="en">THC2</Synonym>
+              <Synonym lang="en">greatwall kinase homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60158">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120539</Reference>
+              </ExternalReference>
+              <ExternalReference id="31034">
+                <Source>Genatlas</Source>
+                <Reference>MASTL</Reference>
+              </ExternalReference>
+              <ExternalReference id="31036">
+                <Source>HGNC</Source>
+                <Reference>19042</Reference>
+              </ExternalReference>
+              <ExternalReference id="82986">
+                <Source>IUPHAR</Source>
+                <Reference>1514</Reference>
+              </ExternalReference>
+              <ExternalReference id="31035">
+                <Source>OMIM</Source>
+                <Reference>608221</Reference>
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+              <ExternalReference id="82985">
+                <Source>Reactome</Source>
+                <Reference>Q96GX5</Reference>
+              </ExternalReference>
+              <ExternalReference id="33444">
+                <Source>SwissProt</Source>
+                <Reference>Q96GX5</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18345000[PMID]_24326104[PMID]</SourceOfValidation>
+          <Gene id="17975">
+            <Name lang="en">cytochrome c, somatic</Name>
+            <Symbol>CYCS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CYC</Synonym>
+              <Synonym lang="en">HCS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60156">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172115</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>CYCS</Reference>
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+              <ExternalReference id="40559">
+                <Source>HGNC</Source>
+                <Reference>19986</Reference>
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+              <ExternalReference id="40560">
+                <Source>OMIM</Source>
+                <Reference>123970</Reference>
+              </ExternalReference>
+              <ExternalReference id="60157">
+                <Source>Reactome</Source>
+                <Reference>P99999</Reference>
+              </ExternalReference>
+              <ExternalReference id="40561">
+                <Source>SwissProt</Source>
+                <Reference>P99999</Reference>
+              </ExternalReference>
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+                <GeneLocus>7p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26175287[PMID]</SourceOfValidation>
+          <Gene id="19841">
+            <Name lang="en">ankyrin repeat domain containing 26</Name>
+            <Symbol>ANKRD26</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1074</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107890</Reference>
+              </ExternalReference>
+              <ExternalReference id="50826">
+                <Source>Genatlas</Source>
+                <Reference>ANKRD26</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>29186</Reference>
+              </ExternalReference>
+              <ExternalReference id="50825">
+                <Source>OMIM</Source>
+                <Reference>610855</Reference>
+              </ExternalReference>
+              <ExternalReference id="50827">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPS8</Reference>
+              </ExternalReference>
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+                <GeneLocus>10p12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>168624</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168624</ExpertLink>
+      <Name lang="en">Familial scaphocephaly syndrome, McGillivray type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>16061565[PMID]</SourceOfValidation>
+          <Gene id="16664">
+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD332</Synonym>
+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066468</Reference>
+              </ExternalReference>
+              <ExternalReference id="33991">
+                <Source>Genatlas</Source>
+                <Reference>FGFR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="33993">
+                <Source>HGNC</Source>
+                <Reference>3689</Reference>
+              </ExternalReference>
+              <ExternalReference id="83025">
+                <Source>IUPHAR</Source>
+                <Reference>1809</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176943</Reference>
+              </ExternalReference>
+              <ExternalReference id="57038">
+                <Source>Reactome</Source>
+                <Reference>P21802</Reference>
+              </ExternalReference>
+              <ExternalReference id="33994">
+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+              <Locus id="23287">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="445">
+      <OrphaCode>193</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=193</ExpertLink>
+      <Name lang="en">Cohen syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15711">
+            <Name lang="en">vacuolar protein sorting 13 homolog B</Name>
+            <Symbol>VPS13B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57295">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132549</Reference>
+              </ExternalReference>
+              <ExternalReference id="36858">
+                <Source>Genatlas</Source>
+                <Reference>VPS13B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2183</Reference>
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+              <ExternalReference id="27831">
+                <Source>OMIM</Source>
+                <Reference>607817</Reference>
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+              <ExternalReference id="32683">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z7G8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="432">
+      <OrphaCode>1334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1334</ExpertLink>
+      <Name lang="en">Chronic mucocutaneous candidiasis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19864674[PMID]</SourceOfValidation>
+          <Gene id="18983">
+            <Name lang="en">C-type lectin domain containing 7A</Name>
+            <Symbol>CLEC7A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD369</Synonym>
+              <Synonym lang="en">DECTIN-1</Synonym>
+              <Synonym lang="en">SCARE2</Synonym>
+              <Synonym lang="en">dectin-1</Synonym>
+              <Synonym lang="en">hDectin-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57283">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172243</Reference>
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+              <ExternalReference id="44512">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>14558</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606264</Reference>
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+              <ExternalReference id="97289">
+                <Source>Reactome</Source>
+                <Reference>Q9BXN2</Reference>
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+                <Reference>Q9BXN2</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21350122[PMID]</SourceOfValidation>
+          <Gene id="20144">
+            <Name lang="en">interleukin 17 receptor A</Name>
+            <Symbol>IL17RA</Symbol>
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+              <Synonym lang="en">CD217</Synonym>
+              <Synonym lang="en">CDw217</Synonym>
+              <Synonym lang="en">IL-17RA</Synonym>
+              <Synonym lang="en">hIL-17R</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000177663</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>5985</Reference>
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+              <ExternalReference id="51492">
+                <Source>OMIM</Source>
+                <Reference>605461</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96F46</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1738</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96F46</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21350122[PMID]</SourceOfValidation>
+          <Gene id="20145">
+            <Name lang="en">interleukin 17F</Name>
+            <Symbol>IL17F</Symbol>
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+              <Synonym lang="en">IL-17F</Synonym>
+              <Synonym lang="en">ML-1</Synonym>
+              <Synonym lang="en">ML1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000112116</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
+                <Reference>606496</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PD4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96PD4</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24120361[PMID]</SourceOfValidation>
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+            <Symbol>TRAF3IP2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O43734</Reference>
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+                <Reference>ENSG00000056972</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <OrphaCode>168593</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168593</ExpertLink>
+      <Name lang="en">Sudden infant death-dysgenesis of the testes syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15273283[PMID]</SourceOfValidation>
+          <Gene id="17970">
+            <Name lang="en">TSPY like 1</Name>
+            <Symbol>TSPYL1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60150">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189241</Reference>
+              </ExternalReference>
+              <ExternalReference id="40532">
+                <Source>Genatlas</Source>
+                <Reference>TSPYL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40533">
+                <Source>HGNC</Source>
+                <Reference>12382</Reference>
+              </ExternalReference>
+              <ExternalReference id="40534">
+                <Source>OMIM</Source>
+                <Reference>604714</Reference>
+              </ExternalReference>
+              <ExternalReference id="40535">
+                <Source>SwissProt</Source>
+                <Reference>Q9H0U9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10529">
+                <GeneLocus>6q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17778">
+      <OrphaCode>168588</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168588</ExpertLink>
+      <Name lang="en">Hyperandrogenism due to cortisone reductase deficiency</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18628520[PMID]</SourceOfValidation>
+          <Gene id="17968">
+            <Name lang="en">hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase</Name>
+            <Symbol>H6PD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">6-phosphogluconolactonase</Synonym>
+              <Synonym lang="en">GDH/6PGL endoplasmic bifunctional protein</Synonym>
+              <Synonym lang="en">H6PDH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60147">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049239</Reference>
+              </ExternalReference>
+              <ExternalReference id="40522">
+                <Source>Genatlas</Source>
+                <Reference>H6PD</Reference>
+              </ExternalReference>
+              <ExternalReference id="40523">
+                <Source>HGNC</Source>
+                <Reference>4795</Reference>
+              </ExternalReference>
+              <ExternalReference id="40524">
+                <Source>OMIM</Source>
+                <Reference>138090</Reference>
+              </ExternalReference>
+              <ExternalReference id="40525">
+                <Source>SwissProt</Source>
+                <Reference>O95479</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26341">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21325058[PMID]</SourceOfValidation>
+          <Gene id="17969">
+            <Name lang="en">hydroxysteroid 11-beta dehydrogenase 1</Name>
+            <Symbol>HSD11B1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SDR26C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 26C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60148">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117594</Reference>
+              </ExternalReference>
+              <ExternalReference id="40527">
+                <Source>Genatlas</Source>
+                <Reference>HSD11B1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40528">
+                <Source>HGNC</Source>
+                <Reference>5208</Reference>
+              </ExternalReference>
+              <ExternalReference id="87985">
+                <Source>IUPHAR</Source>
+                <Reference>2763</Reference>
+              </ExternalReference>
+              <ExternalReference id="40529">
+                <Source>OMIM</Source>
+                <Reference>600713</Reference>
+              </ExternalReference>
+              <ExternalReference id="60149">
+                <Source>Reactome</Source>
+                <Reference>P28845</Reference>
+              </ExternalReference>
+              <ExternalReference id="40530">
+                <Source>SwissProt</Source>
+                <Reference>P28845</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25105">
+                <GeneLocus>1q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17781">
+      <OrphaCode>168601</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168601</ExpertLink>
+      <Name lang="en">Congenital enteropathy due to enteropeptidase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11719902[PMID]</SourceOfValidation>
+          <Gene id="17972">
+            <Name lang="en">transmembrane serine protease 15</Name>
+            <Symbol>TMPRSS15</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ENTK</Synonym>
+              <Synonym lang="en">MGC133046</Synonym>
+              <Synonym lang="en">enteropeptidase</Synonym>
+              <Synonym lang="en">proenterokinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60153">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154646</Reference>
+              </ExternalReference>
+              <ExternalReference id="40542">
+                <Source>Genatlas</Source>
+                <Reference>PRSS7</Reference>
+              </ExternalReference>
+              <ExternalReference id="40543">
+                <Source>HGNC</Source>
+                <Reference>9490</Reference>
+              </ExternalReference>
+              <ExternalReference id="40544">
+                <Source>OMIM</Source>
+                <Reference>606635</Reference>
+              </ExternalReference>
+              <ExternalReference id="40545">
+                <Source>SwissProt</Source>
+                <Reference>P98073</Reference>
+              </ExternalReference>
+              <ExternalReference id="200495">
+                <Source>IUPHAR</Source>
+                <Reference>3189</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="79965">
+                <GeneLocus>21q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17780">
+      <OrphaCode>168598</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168598</ExpertLink>
+      <Name lang="en">Brain demyelination due to methionine adenosyltransferase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22951388[PMID]</SourceOfValidation>
+          <Gene id="17971">
+            <Name lang="en">methionine adenosyltransferase 1A</Name>
+            <Symbol>MAT1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MAT</Synonym>
+              <Synonym lang="en">MATA1</Synonym>
+              <Synonym lang="en">S-adenosylmethionine synthetase</Synonym>
+              <Synonym lang="en">SAMS</Synonym>
+              <Synonym lang="en">SAMS1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60151">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151224</Reference>
+              </ExternalReference>
+              <ExternalReference id="40537">
+                <Source>Genatlas</Source>
+                <Reference>MAT1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="40538">
+                <Source>HGNC</Source>
+                <Reference>6903</Reference>
+              </ExternalReference>
+              <ExternalReference id="40539">
+                <Source>OMIM</Source>
+                <Reference>610550</Reference>
+              </ExternalReference>
+              <ExternalReference id="60152">
+                <Source>Reactome</Source>
+                <Reference>Q00266</Reference>
+              </ExternalReference>
+              <ExternalReference id="40540">
+                <Source>SwissProt</Source>
+                <Reference>Q00266</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21233">
+                <GeneLocus>10q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17782">
+      <OrphaCode>168606</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168606</ExpertLink>
+      <Name lang="en">Seborrhea-like dermatitis with psoriasiform elements</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16751772[PMID]</SourceOfValidation>
+          <Gene id="17973">
+            <Name lang="en">zinc finger protein 750</Name>
+            <Symbol>ZNF750</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ13841</Synonym>
+              <Synonym lang="en">Zfp750</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60154">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141579</Reference>
+              </ExternalReference>
+              <ExternalReference id="40547">
+                <Source>Genatlas</Source>
+                <Reference>ZNF750</Reference>
+              </ExternalReference>
+              <ExternalReference id="40548">
+                <Source>HGNC</Source>
+                <Reference>25843</Reference>
+              </ExternalReference>
+              <ExternalReference id="40549">
+                <Source>OMIM</Source>
+                <Reference>610226</Reference>
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+              <ExternalReference id="83124">
+                <Source>Reactome</Source>
+                <Reference>Q32MQ0</Reference>
+              </ExternalReference>
+              <ExternalReference id="40550">
+                <Source>SwissProt</Source>
+                <Reference>Q32MQ0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10535">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="424">
+      <OrphaCode>1154</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1154</ExpertLink>
+      <Name lang="en">Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23487782[PMID]</SourceOfValidation>
+          <Gene id="22032">
+            <Name lang="en">piezo type mechanosensitive ion channel component 2</Name>
+            <Symbol>PIEZO2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ23144</Synonym>
+              <Synonym lang="en">FLJ23403</Synonym>
+              <Synonym lang="en">FLJ34907</Synonym>
+              <Synonym lang="en">HsT748</Synonym>
+              <Synonym lang="en">HsT771</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="190529">
+                <Source>IUPHAR</Source>
+                <Reference>2946</Reference>
+              </ExternalReference>
+              <ExternalReference id="83782">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154864</Reference>
+              </ExternalReference>
+              <ExternalReference id="78740">
+                <Source>Genatlas</Source>
+                <Reference>PIEZO2</Reference>
+              </ExternalReference>
+              <ExternalReference id="78738">
+                <Source>HGNC</Source>
+                <Reference>26270</Reference>
+              </ExternalReference>
+              <ExternalReference id="78739">
+                <Source>OMIM</Source>
+                <Reference>613629</Reference>
+              </ExternalReference>
+              <ExternalReference id="78741">
+                <Source>SwissProt</Source>
+                <Reference>Q9H5I5</Reference>
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+            <LocusList count="1">
+              <Locus id="60467">
+                <GeneLocus>18p11.22-p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="426">
+      <OrphaCode>1162</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1162</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Asperger syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12669065[PMID]</SourceOfValidation>
+          <Gene id="16550">
+            <Name lang="en">neuroligin 3</Name>
+            <Symbol>NLGN3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ASPGX1</Synonym>
+              <Synonym lang="en">AUTSX1</Synonym>
+              <Synonym lang="en">HNL3</Synonym>
+              <Synonym lang="en">KIAA1480</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57163">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196338</Reference>
+              </ExternalReference>
+              <ExternalReference id="31827">
+                <Source>Genatlas</Source>
+                <Reference>NLGN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31825">
+                <Source>HGNC</Source>
+                <Reference>14289</Reference>
+              </ExternalReference>
+              <ExternalReference id="31824">
+                <Source>OMIM</Source>
+                <Reference>300336</Reference>
+              </ExternalReference>
+              <ExternalReference id="33615">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZ94</Reference>
+              </ExternalReference>
+              <ExternalReference id="126362">
+                <Source>Reactome</Source>
+                <Reference>Q9NZ94</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12669065[PMID]</SourceOfValidation>
+          <Gene id="16551">
+            <Name lang="en">neuroligin 4 X-linked</Name>
+            <Symbol>NLGN4X</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HLNX</Synonym>
+              <Synonym lang="en">KIAA1260</Synonym>
+              <Synonym lang="en">NLGN</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57164">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146938</Reference>
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+              <ExternalReference id="31829">
+                <Source>Genatlas</Source>
+                <Reference>NLGN4X</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14287</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300427</Reference>
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+              <ExternalReference id="33616">
+                <Source>SwissProt</Source>
+                <Reference>Q8N0W4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N0W4</Reference>
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+                <GeneLocus>Xp22.32-p22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17771">
+      <OrphaCode>168558</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168558</ExpertLink>
+      <Name lang="en">46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>18182448[PMID]_15507506[PMID]_11502818[PMID]</SourceOfValidation>
+          <Gene id="15833">
+            <Name lang="en">cytochrome P450 family 11 subfamily A member 1</Name>
+            <Symbol>CYP11A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">P450SCC</Synonym>
+              <Synonym lang="en">cholesterol monooxygenase (side-chain-cleaving)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60141">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140459</Reference>
+              </ExternalReference>
+              <ExternalReference id="28404">
+                <Source>Genatlas</Source>
+                <Reference>CYP11A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28406">
+                <Source>HGNC</Source>
+                <Reference>2590</Reference>
+              </ExternalReference>
+              <ExternalReference id="87975">
+                <Source>IUPHAR</Source>
+                <Reference>1358</Reference>
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+              <ExternalReference id="28405">
+                <Source>OMIM</Source>
+                <Reference>118485</Reference>
+              </ExternalReference>
+              <ExternalReference id="60142">
+                <Source>Reactome</Source>
+                <Reference>P05108</Reference>
+              </ExternalReference>
+              <ExternalReference id="32844">
+                <Source>SwissProt</Source>
+                <Reference>P05108</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23819">
+                <GeneLocus>15q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17772">
+      <OrphaCode>168563</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168563</ExpertLink>
+      <Name lang="en">46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11017805[PMID]</SourceOfValidation>
+          <Gene id="15863">
+            <Name lang="en">desert hedgehog signaling molecule</Name>
+            <Symbol>DHH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HHG-3</Synonym>
+              <Synonym lang="en">MGC35145</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57316">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139549</Reference>
+              </ExternalReference>
+              <ExternalReference id="28547">
+                <Source>Genatlas</Source>
+                <Reference>DHH</Reference>
+              </ExternalReference>
+              <ExternalReference id="28549">
+                <Source>HGNC</Source>
+                <Reference>2865</Reference>
+              </ExternalReference>
+              <ExternalReference id="28548">
+                <Source>OMIM</Source>
+                <Reference>605423</Reference>
+              </ExternalReference>
+              <ExternalReference id="57317">
+                <Source>Reactome</Source>
+                <Reference>O43323</Reference>
+              </ExternalReference>
+              <ExternalReference id="32874">
+                <Source>SwissProt</Source>
+                <Reference>O43323</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25109">
+                <GeneLocus>12q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="429">
+      <OrphaCode>124</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=124</ExpertLink>
+      <Name lang="en">Blackfan-Diamond anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="23">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28280134[PMID]</SourceOfValidation>
+          <Gene id="25648">
+            <Name lang="en">ribosomal protein L18</Name>
+            <Symbol>RPL18</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">60S ribosomal protein L18</Synonym>
+              <Synonym lang="en">L18</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="146504">
+                <Source>HGNC</Source>
+                <Reference>10310</Reference>
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+              <ExternalReference id="146505">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000063177</Reference>
+              </ExternalReference>
+              <ExternalReference id="146506">
+                <Source>SwissProt</Source>
+                <Reference>Q07020</Reference>
+              </ExternalReference>
+              <ExternalReference id="146507">
+                <Source>OMIM</Source>
+                <Reference>604179</Reference>
+              </ExternalReference>
+              <ExternalReference id="146508">
+                <Source>Genatlas</Source>
+                <Reference>RPL18</Reference>
+              </ExternalReference>
+              <ExternalReference id="146509">
+                <Source>Reactome</Source>
+                <Reference>Q07020</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="41329">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25424902[PMID]</SourceOfValidation>
+          <Gene id="24874">
+            <Name lang="en">ribosomal protein S27</Name>
+            <Symbol>RPS27</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MPS-1</Synonym>
+              <Synonym lang="en">MPS1</Synonym>
+              <Synonym lang="en">S27</Synonym>
+              <Synonym lang="en">metallopanstimulin 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="133138">
+                <Source>SwissProt</Source>
+                <Reference>P42677</Reference>
+              </ExternalReference>
+              <ExternalReference id="133445">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177954</Reference>
+              </ExternalReference>
+              <ExternalReference id="134512">
+                <Source>Reactome</Source>
+                <Reference>P42677</Reference>
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+              <ExternalReference id="131691">
+                <Source>HGNC</Source>
+                <Reference>10416</Reference>
+              </ExternalReference>
+              <ExternalReference id="143433">
+                <Source>Genatlas</Source>
+                <Reference>RPS27</Reference>
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+              <ExternalReference id="132415">
+                <Source>OMIM</Source>
+                <Reference>603702</Reference>
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+            <LocusList count="1">
+              <Locus id="38571">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25424902[PMID]</SourceOfValidation>
+          <Gene id="24870">
+            <Name lang="en">ribosomal protein L27</Name>
+            <Symbol>RPL27</Symbol>
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+              <Synonym lang="en">60S ribosomal protein L27</Synonym>
+              <Synonym lang="en">L27</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
+                <Reference>RPL27</Reference>
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+              <ExternalReference id="133134">
+                <Source>SwissProt</Source>
+                <Reference>P61353</Reference>
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+              <ExternalReference id="133745">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131469</Reference>
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+              <ExternalReference id="134508">
+                <Source>Reactome</Source>
+                <Reference>P61353</Reference>
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+              <ExternalReference id="131687">
+                <Source>HGNC</Source>
+                <Reference>10328</Reference>
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+              <ExternalReference id="132413">
+                <Source>OMIM</Source>
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+                <GeneLocus>17q21.31</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27909223[PMID]</SourceOfValidation>
+          <Gene id="27943">
+            <Name lang="en">ribosomal protein S15a</Name>
+            <Symbol>RPS15A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">S15A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="162278">
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+                <Reference>10389</Reference>
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+              <ExternalReference id="162279">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134419</Reference>
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+              <ExternalReference id="162280">
+                <Source>SwissProt</Source>
+                <Reference>P62244</Reference>
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+              <ExternalReference id="162281">
+                <Source>Reactome</Source>
+                <Reference>P62244</Reference>
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+              <ExternalReference id="162282">
+                <Source>OMIM</Source>
+                <Reference>603674</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24942156[PMID]</SourceOfValidation>
+          <Gene id="23054">
+            <Name lang="en">TSR2 ribosome maturation factor</Name>
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+              <Synonym lang="en">RP1-112K5.2</Synonym>
+              <Synonym lang="en">WGG motif containing 1</Synonym>
+              <Synonym lang="en">WGG1</Synonym>
+              <Synonym lang="en">escortin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143971">
+                <Source>Reactome</Source>
+                <Reference>Q969E8</Reference>
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+              <ExternalReference id="94846">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158526</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25455</Reference>
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+              <ExternalReference id="95382">
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+                <Source>SwissProt</Source>
+                <Reference>Q969E8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28280134[PMID]</SourceOfValidation>
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+              <Synonym lang="en">L35</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>10344</Reference>
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+              <ExternalReference id="146499">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136942</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42766</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000071082</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="22679">
+            <Name lang="en">adenosine deaminase 2</Name>
+            <Symbol>ADA2</Symbol>
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+              <Synonym lang="en">ADGF</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="87889">
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+                <Reference>CECR1</Reference>
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+                <Reference>1839</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZK5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZK5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32790018[PMID]</SourceOfValidation>
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+            <Name lang="en">ribosomal protein S20</Name>
+            <Symbol>RPS20</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="94970">
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+                <Reference>ENSG00000008988</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10405</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603682</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P60866</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P60866</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="15229">
+            <Name lang="en">ribosomal protein S19</Name>
+            <Symbol>RPS19</Symbol>
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+              <Synonym lang="en">Diamond-Blackfan anemia</Synonym>
+              <Synonym lang="en">S19</Synonym>
+              <Synonym lang="en">eS19</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105372</Reference>
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+                <Reference>RPS19</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10402</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603474</Reference>
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+              <ExternalReference id="57272">
+                <Source>Reactome</Source>
+                <Reference>P39019</Reference>
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+              <ExternalReference id="33787">
+                <Source>SwissProt</Source>
+                <Reference>P39019</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138326</Reference>
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+              <ExternalReference id="36255">
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+                <Reference>RPS24</Reference>
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+              <ExternalReference id="25523">
+                <Source>HGNC</Source>
+                <Reference>10411</Reference>
+              </ExternalReference>
+              <ExternalReference id="25522">
+                <Source>OMIM</Source>
+                <Reference>602412</Reference>
+              </ExternalReference>
+              <ExternalReference id="57274">
+                <Source>Reactome</Source>
+                <Reference>P62847</Reference>
+              </ExternalReference>
+              <ExternalReference id="33788">
+                <Source>SwissProt</Source>
+                <Reference>P62847</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21231">
+                <GeneLocus>10q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24952648[PMID]_22706301[PMID]</SourceOfValidation>
+          <Gene id="16102">
+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ERYF1</Synonym>
+              <Synonym lang="en">GATA-1</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">NFE1</Synonym>
+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59199">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102145</Reference>
+              </ExternalReference>
+              <ExternalReference id="29714">
+                <Source>Genatlas</Source>
+                <Reference>GATA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29716">
+                <Source>HGNC</Source>
+                <Reference>4170</Reference>
+              </ExternalReference>
+              <ExternalReference id="29715">
+                <Source>OMIM</Source>
+                <Reference>305371</Reference>
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+              <ExternalReference id="59200">
+                <Source>Reactome</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
+              <ExternalReference id="33117">
+                <Source>SwissProt</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8645">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="17196">
+            <Name lang="en">ribosomal protein S17</Name>
+            <Symbol>RPS17</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MGC72007</Synonym>
+              <Synonym lang="en">RPS17L1</Synonym>
+              <Synonym lang="en">RPS17L2</Synonym>
+              <Synonym lang="en">S17</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="36254">
+                <Source>HGNC</Source>
+                <Reference>10397</Reference>
+              </ExternalReference>
+              <ExternalReference id="36253">
+                <Source>OMIM</Source>
+                <Reference>180472</Reference>
+              </ExternalReference>
+              <ExternalReference id="57270">
+                <Source>Reactome</Source>
+                <Reference>P08708</Reference>
+              </ExternalReference>
+              <ExternalReference id="36252">
+                <Source>SwissProt</Source>
+                <Reference>P08708</Reference>
+              </ExternalReference>
+              <ExternalReference id="91946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182774</Reference>
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+              <ExternalReference id="36251">
+                <Source>Genatlas</Source>
+                <Reference>RPS17</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>15q25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="17891">
+            <Name lang="en">ribosomal protein S7</Name>
+            <Symbol>RPS7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S7</Synonym>
+              <Synonym lang="en">eS7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="40103">
+                <Source>Genatlas</Source>
+                <Reference>RPS7</Reference>
+              </ExternalReference>
+              <ExternalReference id="40104">
+                <Source>HGNC</Source>
+                <Reference>10440</Reference>
+              </ExternalReference>
+              <ExternalReference id="40105">
+                <Source>OMIM</Source>
+                <Reference>603658</Reference>
+              </ExternalReference>
+              <ExternalReference id="57278">
+                <Source>Reactome</Source>
+                <Reference>P62081</Reference>
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+              <ExternalReference id="40106">
+                <Source>SwissProt</Source>
+                <Reference>P62081</Reference>
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+              <ExternalReference id="57277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171863</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23931">
+                <GeneLocus>2p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="17892">
+            <Name lang="en">ribosomal protein L5</Name>
+            <Symbol>RPL5</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">L5</Synonym>
+              <Synonym lang="en">PPP1R135</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 135</Synonym>
+              <Synonym lang="en">uL18</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57265">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122406</Reference>
+              </ExternalReference>
+              <ExternalReference id="40108">
+                <Source>Genatlas</Source>
+                <Reference>RPL5</Reference>
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+              <ExternalReference id="40109">
+                <Source>HGNC</Source>
+                <Reference>10360</Reference>
+              </ExternalReference>
+              <ExternalReference id="40110">
+                <Source>OMIM</Source>
+                <Reference>603634</Reference>
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+              <ExternalReference id="57266">
+                <Source>Reactome</Source>
+                <Reference>P46777</Reference>
+              </ExternalReference>
+              <ExternalReference id="40111">
+                <Source>SwissProt</Source>
+                <Reference>P46777</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1p22.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="17893">
+            <Name lang="en">ribosomal protein L11</Name>
+            <Symbol>RPL11</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">60S ribosomal protein L11</Synonym>
+              <Synonym lang="en">L11</Synonym>
+              <Synonym lang="en">uL5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57261">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142676</Reference>
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+              <ExternalReference id="40113">
+                <Source>Genatlas</Source>
+                <Reference>RPL11</Reference>
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+              <ExternalReference id="40114">
+                <Source>HGNC</Source>
+                <Reference>10301</Reference>
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+              <ExternalReference id="40115">
+                <Source>OMIM</Source>
+                <Reference>604175</Reference>
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+              <ExternalReference id="57262">
+                <Source>Reactome</Source>
+                <Reference>P62913</Reference>
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+              <ExternalReference id="40116">
+                <Source>SwissProt</Source>
+                <Reference>P62913</Reference>
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+            </ExternalReferenceList>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="17894">
+            <Name lang="en">ribosomal protein L35a</Name>
+            <Symbol>RPL35A</Symbol>
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+              <Synonym lang="en">GIG33</Synonym>
+              <Synonym lang="en">L35A</Synonym>
+              <Synonym lang="en">eL33</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57264">
+                <Source>Reactome</Source>
+                <Reference>P18077</Reference>
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+              <ExternalReference id="40121">
+                <Source>SwissProt</Source>
+                <Reference>P18077</Reference>
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+              <ExternalReference id="57263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182899</Reference>
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+              <ExternalReference id="40118">
+                <Source>Genatlas</Source>
+                <Reference>RPL35A</Reference>
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+              <ExternalReference id="40119">
+                <Source>HGNC</Source>
+                <Reference>10345</Reference>
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+              <ExternalReference id="40120">
+                <Source>OMIM</Source>
+                <Reference>180468</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ribosomal protein S10</Name>
+            <Symbol>RPS10</Symbol>
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+              <Synonym lang="en">MGC88819</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57267">
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+                <Reference>ENSG00000124614</Reference>
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+              <ExternalReference id="44542">
+                <Source>Genatlas</Source>
+                <Reference>RPS10</Reference>
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+              <ExternalReference id="44543">
+                <Source>HGNC</Source>
+                <Reference>10383</Reference>
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+              <ExternalReference id="44544">
+                <Source>OMIM</Source>
+                <Reference>603632</Reference>
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+              <ExternalReference id="57268">
+                <Source>Reactome</Source>
+                <Reference>P46783</Reference>
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+              <ExternalReference id="44545">
+                <Source>SwissProt</Source>
+                <Reference>P46783</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]</SourceOfValidation>
+          <Gene id="18990">
+            <Name lang="en">ribosomal protein S26</Name>
+            <Symbol>RPS26</Symbol>
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+              <Synonym lang="en">S26</Synonym>
+              <Synonym lang="en">eS26</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197728</Reference>
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+              <ExternalReference id="44547">
+                <Source>Genatlas</Source>
+                <Reference>RPS26</Reference>
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+              <ExternalReference id="44548">
+                <Source>HGNC</Source>
+                <Reference>10414</Reference>
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+              <ExternalReference id="44549">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57276">
+                <Source>Reactome</Source>
+                <Reference>P62854</Reference>
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+              <ExternalReference id="44550">
+                <Source>SwissProt</Source>
+                <Reference>P62854</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301769[PMID]_22431104[PMID]</SourceOfValidation>
+          <Gene id="21590">
+            <Name lang="en">ribosomal protein L26</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="74809">
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+              <ExternalReference id="83553">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P61254</Reference>
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+              <ExternalReference id="83554">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161970</Reference>
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+              <ExternalReference id="82561">
+                <Source>Genatlas</Source>
+                <Reference>RPL26</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="22567">
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+            <Symbol>RPL15</Symbol>
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+              <Synonym lang="en">L15</Synonym>
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+              <Synonym lang="en">RPLY10</Synonym>
+              <Synonym lang="en">RPYL10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>10306</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604174</Reference>
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+              <ExternalReference id="84603">
+                <Source>Reactome</Source>
+                <Reference>P61313</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P61313</Reference>
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+              <ExternalReference id="84604">
+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24829207[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="91950">
+                <Source>Reactome</Source>
+                <Reference>P62273</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P62273</Reference>
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+              <ExternalReference id="91951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213741</Reference>
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+              <ExternalReference id="91700">
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24942156[PMID]</SourceOfValidation>
+          <Gene id="23055">
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+            <Symbol>RPS28</Symbol>
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+              <Synonym lang="en">S28</Synonym>
+              <Synonym lang="en">eS28</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000233927</Reference>
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+              <ExternalReference id="94850">
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+                <Source>HGNC</Source>
+                <Reference>10418</Reference>
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+              <ExternalReference id="94849">
+                <Source>OMIM</Source>
+                <Reference>603685</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P62857</Reference>
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+              <ExternalReference id="94851">
+                <Source>SwissProt</Source>
+                <Reference>P62857</Reference>
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+            <LocusList count="1">
+              <Locus id="13817">
+                <GeneLocus>19p13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="17773">
+      <OrphaCode>168566</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=168566</ExpertLink>
+      <Name lang="en">Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17033963[PMID]</SourceOfValidation>
+          <Gene id="17966">
+            <Name lang="en">Ts translation elongation factor, mitochondrial</Name>
+            <Symbol>TSFM</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EF-TS</Synonym>
+              <Synonym lang="en">EF-Tsmt</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60143">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123297</Reference>
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+              <ExternalReference id="40512">
+                <Source>Genatlas</Source>
+                <Reference>TSFM</Reference>
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+              <ExternalReference id="40513">
+                <Source>HGNC</Source>
+                <Reference>12367</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604723</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P43897</Reference>
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+              <ExternalReference id="40515">
+                <Source>SwissProt</Source>
+                <Reference>P43897</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Caffey disease</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22855962[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
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+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
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+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
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+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
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+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
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+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17774">
+      <OrphaCode>168569</OrphaCode>
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+      <Name lang="en">H syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18940313[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 29 member 3</Name>
+            <Symbol>SLC29A3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ENT3</Synonym>
+              <Synonym lang="en">FLJ11160</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60144">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198246</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC29A3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23096</Reference>
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+              <ExternalReference id="40498">
+                <Source>OMIM</Source>
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+              <ExternalReference id="60145">
+                <Source>Reactome</Source>
+                <Reference>Q9BZD2</Reference>
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+              <ExternalReference id="40499">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZD2</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Native American myopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>STAC3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143224">
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+                <Reference>Q96MF2</Reference>
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+                <Reference>615521</Reference>
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+              <ExternalReference id="79727">
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+                <Reference>Q96MF2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185482</Reference>
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+      <Name lang="en">Bloom syndrome</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Argininemia</Name>
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+                <Reference>ENSG00000118520</Reference>
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+            <Name lang="en">inositol 1,4,5-trisphosphate receptor type 1</Name>
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+              <Synonym lang="en">Insp3r1</Synonym>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 94</Synonym>
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+            <Symbol>PAX6</Symbol>
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+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
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+              <Synonym lang="en">aniridia, keratitis</Synonym>
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+      <Name lang="en">Spondyloepimetaphyseal dysplasia, Geneviève type</Name>
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+              <Synonym lang="en">sialic acid synthase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>19237</Reference>
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+                <Reference>605202</Reference>
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+                <Reference>Q9NR45</Reference>
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+                <Reference>ENSG00000095380</Reference>
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+      <Name lang="en">Distal arthrogryposis type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25683120[PMID]</SourceOfValidation>
+          <Gene id="22569">
+            <Name lang="en">sodium leak channel, non-selective</Name>
+            <Symbol>NALCN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CanIon</Synonym>
+              <Synonym lang="en">bA430M15.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="84606">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102452</Reference>
+              </ExternalReference>
+              <ExternalReference id="84444">
+                <Source>Genatlas</Source>
+                <Reference>NALCN</Reference>
+              </ExternalReference>
+              <ExternalReference id="84442">
+                <Source>HGNC</Source>
+                <Reference>19082</Reference>
+              </ExternalReference>
+              <ExternalReference id="84443">
+                <Source>OMIM</Source>
+                <Reference>611549</Reference>
+              </ExternalReference>
+              <ExternalReference id="84605">
+                <Source>Reactome</Source>
+                <Reference>Q8IZF0</Reference>
+              </ExternalReference>
+              <ExternalReference id="84445">
+                <Source>SwissProt</Source>
+                <Reference>Q8IZF0</Reference>
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+              <ExternalReference id="190607">
+                <Source>IUPHAR</Source>
+                <Reference>750</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60623">
+                <GeneLocus>13q32.3-q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]</SourceOfValidation>
+          <Gene id="15637">
+            <Name lang="en">troponin I2, fast skeletal type</Name>
+            <Symbol>TNNI2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DA2B</Synonym>
+              <Synonym lang="en">FSSV</Synonym>
+              <Synonym lang="en">troponin I fast twitch 2</Synonym>
+              <Synonym lang="en">troponin I, fast-twitch skeletal muscle isoform</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57257">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130598</Reference>
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+              <ExternalReference id="27485">
+                <Source>Genatlas</Source>
+                <Reference>TNNI2</Reference>
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+              <ExternalReference id="27483">
+                <Source>HGNC</Source>
+                <Reference>11946</Reference>
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+              <ExternalReference id="27482">
+                <Source>OMIM</Source>
+                <Reference>191043</Reference>
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+              <ExternalReference id="57258">
+                <Source>Reactome</Source>
+                <Reference>P48788</Reference>
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+              <ExternalReference id="32609">
+                <Source>SwissProt</Source>
+                <Reference>P48788</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]</SourceOfValidation>
+          <Gene id="15641">
+            <Name lang="en">troponin T3, fast skeletal type</Name>
+            <Symbol>TNNT3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AMCD2B</Synonym>
+              <Synonym lang="en">DA2B</Synonym>
+              <Synonym lang="en">DKFZp779M2348</Synonym>
+              <Synonym lang="en">FSSV</Synonym>
+              <Synonym lang="en">troponin-T3, skeletal, fast</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57259">
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+                <Reference>ENSG00000130595</Reference>
+              </ExternalReference>
+              <ExternalReference id="37382">
+                <Source>Genatlas</Source>
+                <Reference>TNNT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27503">
+                <Source>HGNC</Source>
+                <Reference>11950</Reference>
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+              <ExternalReference id="27502">
+                <Source>OMIM</Source>
+                <Reference>600692</Reference>
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+              <ExternalReference id="57260">
+                <Source>Reactome</Source>
+                <Reference>P45378</Reference>
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+              <ExternalReference id="32613">
+                <Source>SwissProt</Source>
+                <Reference>P45378</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]</SourceOfValidation>
+          <Gene id="15648">
+            <Name lang="en">tropomyosin 2</Name>
+            <Symbol>TPM2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DA1</Synonym>
+              <Synonym lang="en">NEM4</Synonym>
+              <Synonym lang="en">nemaline myopathy type 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57253">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198467</Reference>
+              </ExternalReference>
+              <ExternalReference id="27538">
+                <Source>Genatlas</Source>
+                <Reference>TPM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27536">
+                <Source>HGNC</Source>
+                <Reference>12011</Reference>
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+              <ExternalReference id="27535">
+                <Source>OMIM</Source>
+                <Reference>190990</Reference>
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+              <ExternalReference id="57254">
+                <Source>Reactome</Source>
+                <Reference>P07951</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07951</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]</SourceOfValidation>
+          <Gene id="16499">
+            <Name lang="en">myosin heavy chain 3</Name>
+            <Symbol>MYH3</Symbol>
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+              <Synonym lang="en">HEMHC</Synonym>
+              <Synonym lang="en">MYHC-EMB</Synonym>
+              <Synonym lang="en">MYHSE1</Synonym>
+              <Synonym lang="en">SMHCE</Synonym>
+              <Synonym lang="en">muscle embryonic myosin heavy chain 3</Synonym>
+              <Synonym lang="en">myosin, skeletal, heavy chain, embryonic 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000109063</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7573</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P11055</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20045868[PMID]</SourceOfValidation>
+          <Gene id="19041">
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+            <Symbol>MYBPC1</Symbol>
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+              <Synonym lang="en">slow skeletal-type muscle myosin-binding-protein C</Synonym>
+              <Synonym lang="en">ssMyBP-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196091</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7549</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Neurogenic arthrogryposis multiplex congenita</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">collagen type XXV alpha 1 chain</Name>
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+                <Reference>18603</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57259">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130595</Reference>
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+              <ExternalReference id="37382">
+                <Source>Genatlas</Source>
+                <Reference>TNNT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27503">
+                <Source>HGNC</Source>
+                <Reference>11950</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600692</Reference>
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+              <ExternalReference id="57260">
+                <Source>Reactome</Source>
+                <Reference>P45378</Reference>
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+              <ExternalReference id="32613">
+                <Source>SwissProt</Source>
+                <Reference>P45378</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]</SourceOfValidation>
+          <Gene id="15648">
+            <Name lang="en">tropomyosin 2</Name>
+            <Symbol>TPM2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DA1</Synonym>
+              <Synonym lang="en">NEM4</Synonym>
+              <Synonym lang="en">nemaline myopathy type 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57253">
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+                <Reference>ENSG00000198467</Reference>
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+              <ExternalReference id="27538">
+                <Source>Genatlas</Source>
+                <Reference>TPM2</Reference>
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+              <ExternalReference id="27536">
+                <Source>HGNC</Source>
+                <Reference>12011</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190990</Reference>
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+              <ExternalReference id="57254">
+                <Source>Reactome</Source>
+                <Reference>P07951</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07951</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23401156[PMID]_16642020[PMID]</SourceOfValidation>
+          <Gene id="16499">
+            <Name lang="en">myosin heavy chain 3</Name>
+            <Symbol>MYH3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HEMHC</Synonym>
+              <Synonym lang="en">MYHC-EMB</Synonym>
+              <Synonym lang="en">MYHSE1</Synonym>
+              <Synonym lang="en">SMHCE</Synonym>
+              <Synonym lang="en">muscle embryonic myosin heavy chain 3</Synonym>
+              <Synonym lang="en">myosin, skeletal, heavy chain, embryonic 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57255">
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+                <Reference>ENSG00000109063</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYH3</Reference>
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+              <ExternalReference id="31582">
+                <Source>HGNC</Source>
+                <Reference>7573</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160720</Reference>
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+              <ExternalReference id="57256">
+                <Source>Reactome</Source>
+                <Reference>P11055</Reference>
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+              <ExternalReference id="33564">
+                <Source>SwissProt</Source>
+                <Reference>P11055</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="478">
+      <OrphaCode>246</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=246</ExpertLink>
+      <Name lang="en">Postaxial acrofacial dysostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19915526[PMID]</SourceOfValidation>
+          <Gene id="18997">
+            <Name lang="en">dihydroorotate dehydrogenase (quinone)</Name>
+            <Symbol>DHODH</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57330">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102967</Reference>
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+              <ExternalReference id="44585">
+                <Source>Genatlas</Source>
+                <Reference>DHODH</Reference>
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+              <ExternalReference id="44586">
+                <Source>HGNC</Source>
+                <Reference>2867</Reference>
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+              <ExternalReference id="83168">
+                <Source>IUPHAR</Source>
+                <Reference>2604</Reference>
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+              <ExternalReference id="44587">
+                <Source>OMIM</Source>
+                <Reference>126064</Reference>
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+              <ExternalReference id="57331">
+                <Source>Reactome</Source>
+                <Reference>Q02127</Reference>
+              </ExternalReference>
+              <ExternalReference id="44588">
+                <Source>SwissProt</Source>
+                <Reference>Q02127</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="477">
+      <OrphaCode>1775</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1775</ExpertLink>
+      <Name lang="en">Dyskeratosis congenita</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31570891[PMID]</SourceOfValidation>
+          <Gene id="17401">
+            <Name lang="en">nucleophosmin 1</Name>
+            <Symbol>NPM1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">'nucleophosmin/nucleoplasmin family, member 1'</Synonym>
+              <Synonym lang="en">B23</Synonym>
+              <Synonym lang="en">NPM</Synonym>
+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
+              <Synonym lang="en">Numatrin</Synonym>
+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58811">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181163</Reference>
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+              <ExternalReference id="37278">
+                <Source>Genatlas</Source>
+                <Reference>NPM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7910</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164040</Reference>
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+              <ExternalReference id="58812">
+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="15869">
+            <Name lang="en">dyskerin pseudouridine synthase 1</Name>
+            <Symbol>DKC1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Cbf5</Synonym>
+              <Synonym lang="en">H/ACA ribonucleoprotein complex subunit 4</Synonym>
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+              <Synonym lang="en">NOLA4</Synonym>
+              <Synonym lang="en">XAP101</Synonym>
+              <Synonym lang="en">dyskerin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>2890</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">telomerase RNA component</Name>
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+              <Synonym lang="en">small Cajal body-specific RNA 19</Synonym>
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+            <Name lang="en">TERF1 interacting nuclear factor 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">U six biogenesis 1</Synonym>
+              <Synonym lang="en">mutated in poikiloderma with neutropenia protein 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>25792</Reference>
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+              <ExternalReference id="44480">
+                <Source>OMIM</Source>
+                <Reference>613276</Reference>
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+              <ExternalReference id="44481">
+                <Source>SwissProt</Source>
+                <Reference>Q9BQ65</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21703">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301779[PMID]</SourceOfValidation>
+          <Gene id="20148">
+            <Name lang="en">WD repeat containing antisense to TP53</Name>
+            <Symbol>WRAP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ10385</Synonym>
+              <Synonym lang="en">TCAB1</Synonym>
+              <Synonym lang="en">WD-encoding RNA antisense to p53</Synonym>
+              <Synonym lang="en">telomerase cajal body protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57329">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141499</Reference>
+              </ExternalReference>
+              <ExternalReference id="51541">
+                <Source>Genatlas</Source>
+                <Reference>WRAP53</Reference>
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+              <ExternalReference id="51539">
+                <Source>HGNC</Source>
+                <Reference>25522</Reference>
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+              <ExternalReference id="51540">
+                <Source>OMIM</Source>
+                <Reference>612661</Reference>
+              </ExternalReference>
+              <ExternalReference id="97303">
+                <Source>Reactome</Source>
+                <Reference>Q9BUR4</Reference>
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+              <ExternalReference id="82567">
+                <Source>SwissProt</Source>
+                <Reference>Q9BUR4</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301779[PMID]_22532422[PMID]_22556055[PMID]</SourceOfValidation>
+          <Gene id="21594">
+            <Name lang="en">CST telomere replication complex component 1</Name>
+            <Symbol>CTC1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AAF132</Synonym>
+              <Synonym lang="en">Conserved telomere capping protein 1</Synonym>
+              <Synonym lang="en">Conserved telomere maintenance component 1</Synonym>
+              <Synonym lang="en">FLJ22170</Synonym>
+              <Synonym lang="en">alpha accessory factor 132</Synonym>
+              <Synonym lang="en">conserved telomere capping protein 1</Synonym>
+              <Synonym lang="en">conserved telomere maintenance component 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83560">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178971</Reference>
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+              <ExternalReference id="74840">
+                <Source>Genatlas</Source>
+                <Reference>CTC1</Reference>
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+              <ExternalReference id="74838">
+                <Source>HGNC</Source>
+                <Reference>26169</Reference>
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+              <ExternalReference id="74839">
+                <Source>OMIM</Source>
+                <Reference>613129</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q2NKJ3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23453664[PMID]</SourceOfValidation>
+          <Gene id="21975">
+            <Name lang="en">regulator of telomere elongation helicase 1</Name>
+            <Symbol>RTEL1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DKFZP434C013</Synonym>
+              <Synonym lang="en">KIAA1088</Synonym>
+              <Synonym lang="en">NHL</Synonym>
+              <Synonym lang="en">RTEL</Synonym>
+              <Synonym lang="en">bK3184A7.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83724">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258366</Reference>
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+              <ExternalReference id="78242">
+                <Source>Genatlas</Source>
+                <Reference>RTEL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15888</Reference>
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+                <Reference>608833</Reference>
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+              <ExternalReference id="83723">
+                <Source>Reactome</Source>
+                <Reference>Q9NZ71</Reference>
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+              <ExternalReference id="78243">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZ71</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25893599[PMID]</SourceOfValidation>
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+            <Name lang="en">poly(A)-specific ribonuclease</Name>
+            <Symbol>PARN</Symbol>
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+              <Synonym lang="en">deadenylation nuclease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="95602">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140694</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PARN</Reference>
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+              <ExternalReference id="95597">
+                <Source>HGNC</Source>
+                <Reference>8609</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="95601">
+                <Source>Reactome</Source>
+                <Reference>O95453</Reference>
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+              <ExternalReference id="95600">
+                <Source>SwissProt</Source>
+                <Reference>O95453</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35931051[PMID]</SourceOfValidation>
+          <Gene id="19453">
+            <Name lang="en">thymidylate synthetase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>2642</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Familial dysautonomia</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">DNA repair enzyme</Synonym>
+              <Synonym lang="en">polydeoxyribonucleotide synthase [ATP] 4</Synonym>
+              <Synonym lang="en">polynucleotide ligase</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">dymeclin</Name>
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+                <Reference>ENSG00000177000</Reference>
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+      <Name lang="en">Carbamoyl-phosphate synthetase 1 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20800523[PMID]</SourceOfValidation>
+          <Gene id="15794">
+            <Name lang="en">carbamoyl-phosphate synthase 1</Name>
+            <Symbol>CPS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GATD6</Synonym>
+              <Synonym lang="en">carbamoyl-phosphate synthase (ammonia)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57308">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000021826</Reference>
+              </ExternalReference>
+              <ExternalReference id="28220">
+                <Source>Genatlas</Source>
+                <Reference>CPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28222">
+                <Source>HGNC</Source>
+                <Reference>2323</Reference>
+              </ExternalReference>
+              <ExternalReference id="28221">
+                <Source>OMIM</Source>
+                <Reference>608307</Reference>
+              </ExternalReference>
+              <ExternalReference id="57309">
+                <Source>Reactome</Source>
+                <Reference>P31327</Reference>
+              </ExternalReference>
+              <ExternalReference id="32766">
+                <Source>SwissProt</Source>
+                <Reference>P31327</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25017">
+                <GeneLocus>2q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="459">
+      <OrphaCode>23</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=23</ExpertLink>
+      <Name lang="en">Argininosuccinic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12384776[PMID]_21290785[PMID]</SourceOfValidation>
+          <Gene id="15957">
+            <Name lang="en">argininosuccinate lyase</Name>
+            <Symbol>ASL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ASAL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57306">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126522</Reference>
+              </ExternalReference>
+              <ExternalReference id="28985">
+                <Source>Genatlas</Source>
+                <Reference>ASL</Reference>
+              </ExternalReference>
+              <ExternalReference id="28983">
+                <Source>HGNC</Source>
+                <Reference>746</Reference>
+              </ExternalReference>
+              <ExternalReference id="28982">
+                <Source>OMIM</Source>
+                <Reference>608310</Reference>
+              </ExternalReference>
+              <ExternalReference id="57307">
+                <Source>Reactome</Source>
+                <Reference>P04424</Reference>
+              </ExternalReference>
+              <ExternalReference id="32968">
+                <Source>SwissProt</Source>
+                <Reference>P04424</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8367">
+                <GeneLocus>7q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="458">
+      <OrphaCode>45</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=45</ExpertLink>
+      <Name lang="en">Adenosine monophosphate deaminase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15926">
+            <Name lang="en">adenosine monophosphate deaminase 1</Name>
+            <Symbol>AMPD1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AMPD isoform M</Synonym>
+              <Synonym lang="en">MAD</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">skeletal muscle AMPD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116748</Reference>
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+              <ExternalReference id="28835">
+                <Source>Genatlas</Source>
+                <Reference>AMPD1</Reference>
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+              <ExternalReference id="28837">
+                <Source>HGNC</Source>
+                <Reference>468</Reference>
+              </ExternalReference>
+              <ExternalReference id="28836">
+                <Source>OMIM</Source>
+                <Reference>102770</Reference>
+              </ExternalReference>
+              <ExternalReference id="57305">
+                <Source>Reactome</Source>
+                <Reference>P23109</Reference>
+              </ExternalReference>
+              <ExternalReference id="32938">
+                <Source>SwissProt</Source>
+                <Reference>P23109</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p13.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8004104[PMID]_11139257[PMID]</SourceOfValidation>
+          <Gene id="15928">
+            <Name lang="en">adenosine monophosphate deaminase 3</Name>
+            <Symbol>AMPD3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">erythrocyte-specific AMP deaminase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28847">
+                <Source>Genatlas</Source>
+                <Reference>AMPD3</Reference>
+              </ExternalReference>
+              <ExternalReference id="28845">
+                <Source>HGNC</Source>
+                <Reference>470</Reference>
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+              <ExternalReference id="28844">
+                <Source>OMIM</Source>
+                <Reference>102772</Reference>
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+              <ExternalReference id="57303">
+                <Source>Reactome</Source>
+                <Reference>Q01432</Reference>
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+              <ExternalReference id="32940">
+                <Source>SwissProt</Source>
+                <Reference>Q01432</Reference>
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+              <ExternalReference id="57302">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133805</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>11p15.4</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="457">
+      <OrphaCode>226</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=226</ExpertLink>
+      <Name lang="en">Dihydropteridine reductase deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9744478[PMID]</SourceOfValidation>
+          <Gene id="15178">
+            <Name lang="en">quinoid dihydropteridine reductase</Name>
+            <Symbol>QDPR</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">6,7-dihydropteridine reductase</Synonym>
+              <Synonym lang="en">DHPR</Synonym>
+              <Synonym lang="en">PKU2</Synonym>
+              <Synonym lang="en">SDR33C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 33C, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57300">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151552</Reference>
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+              <ExternalReference id="25284">
+                <Source>Genatlas</Source>
+                <Reference>QDPR</Reference>
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+              <ExternalReference id="25282">
+                <Source>HGNC</Source>
+                <Reference>9752</Reference>
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+              <ExternalReference id="69924">
+                <Source>OMIM</Source>
+                <Reference>612676</Reference>
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+              <ExternalReference id="57301">
+                <Source>Reactome</Source>
+                <Reference>P09417</Reference>
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+              <ExternalReference id="33702">
+                <Source>SwissProt</Source>
+                <Reference>P09417</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="454">
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+      <Name lang="en">Cutis marmorata telangiectatica congenita</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="22252">
+            <Name lang="en">G protein subunit alpha 11</Name>
+            <Symbol>GNA11</Symbol>
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+              <Synonym lang="en">FBH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83938">
+                <Source>Reactome</Source>
+                <Reference>P29992</Reference>
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+              <ExternalReference id="80665">
+                <Source>SwissProt</Source>
+                <Reference>P29992</Reference>
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+              <ExternalReference id="83939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088256</Reference>
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+              <ExternalReference id="80664">
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+                <Reference>GNA11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4379</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139313</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25957586[PMID]</SourceOfValidation>
+          <Gene id="27383">
+            <Name lang="en">ADP ribosylation factor like GTPase 6 interacting protein 6</Name>
+            <Symbol>ARL6IP6</Symbol>
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+              <Synonym lang="en">MGC33864</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="159482">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177917</Reference>
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+              <ExternalReference id="159483">
+                <Source>SwissProt</Source>
+                <Reference>Q8N6S5</Reference>
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+              <ExternalReference id="159484">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8N6S5</Reference>
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+                <Reference>ARL6IP6</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Corpus callosum agenesis-neuronopathy syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 12 member 6</Name>
+            <Symbol>SLC12A6</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140199</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC12A6</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UHW9</Reference>
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+                <Reference>973</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Neonatal severe primary hyperparathyroidism</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transient receptor potential cation channel subfamily V member 6</Name>
+            <Symbol>TRPV6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CaT1</Synonym>
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+                <Reference>14006</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165125</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H1D0</Reference>
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+                <Reference>606680</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="15401">
+            <Name lang="en">calcium sensing receptor</Name>
+            <Symbol>CASR</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">GPRC2A</Synonym>
+              <Synonym lang="en">NSHPT</Synonym>
+              <Synonym lang="en">severe neonatal hyperparathyroidism</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036828</Reference>
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+                <Reference>CASR</Reference>
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+                <Reference>1514</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>54</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601199</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P41180</Reference>
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+                <Reference>P41180</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2248</ExpertLink>
+      <Name lang="en">Hypoplastic left heart syndrome</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11470490[PMID]_19683641[PMID]_19298922[PMID]</SourceOfValidation>
+          <Gene id="16125">
+            <Name lang="en">gap junction protein alpha 1</Name>
+            <Symbol>GJA1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CX43</Synonym>
+              <Synonym lang="en">ODD</Synonym>
+              <Synonym lang="en">ODOD</Synonym>
+              <Synonym lang="en">SDTY3</Synonym>
+              <Synonym lang="en">connexin 43</Synonym>
+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152661</Reference>
+              </ExternalReference>
+              <ExternalReference id="29829">
+                <Source>Genatlas</Source>
+                <Reference>GJA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29827">
+                <Source>HGNC</Source>
+                <Reference>4274</Reference>
+              </ExternalReference>
+              <ExternalReference id="29826">
+                <Source>OMIM</Source>
+                <Reference>121014</Reference>
+              </ExternalReference>
+              <ExternalReference id="57354">
+                <Source>Reactome</Source>
+                <Reference>P17302</Reference>
+              </ExternalReference>
+              <ExternalReference id="33140">
+                <Source>SwissProt</Source>
+                <Reference>P17302</Reference>
+              </ExternalReference>
+              <ExternalReference id="193603">
+                <Source>IUPHAR</Source>
+                <Reference>728</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66615">
+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12798584[PMID]_14607454[PMID]_20456451[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
+              </ExternalReference>
+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
+              </ExternalReference>
+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
+              </ExternalReference>
+              <ExternalReference id="31819">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31821">
+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
+              </ExternalReference>
+              <ExternalReference id="31820">
+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16731">
+                <GeneLocus>5q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="506">
+      <OrphaCode>2140</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2140</ExpertLink>
+      <Name lang="en">Congenital diaphragmatic hernia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34547244[PMID]</SourceOfValidation>
+          <Gene id="23127">
+            <Name lang="en">lon peptidase 1, mitochondrial</Name>
+            <Symbol>LONP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LonHS</Synonym>
+              <Synonym lang="en">PIM1</Synonym>
+              <Synonym lang="en">hLON</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="194394">
+                <Source>IUPHAR</Source>
+                <Reference>3180</Reference>
+              </ExternalReference>
+              <ExternalReference id="95158">
+                <Source>Genatlas</Source>
+                <Reference>LONP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95156">
+                <Source>HGNC</Source>
+                <Reference>9479</Reference>
+              </ExternalReference>
+              <ExternalReference id="95157">
+                <Source>OMIM</Source>
+                <Reference>605490</Reference>
+              </ExternalReference>
+              <ExternalReference id="95159">
+                <Source>SwissProt</Source>
+                <Reference>P36776</Reference>
+              </ExternalReference>
+              <ExternalReference id="95160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196365</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="69431">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21525063[PMID]</SourceOfValidation>
+          <Gene id="15741">
+            <Name lang="en">zinc finger protein, FOG family member 2</Name>
+            <Symbol>ZFPM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FOG2</Synonym>
+              <Synonym lang="en">ZC2HC11B</Synonym>
+              <Synonym lang="en">ZNF89B</Synonym>
+              <Synonym lang="en">hFOG-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57348">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169946</Reference>
+              </ExternalReference>
+              <ExternalReference id="37406">
+                <Source>Genatlas</Source>
+                <Reference>ZFPM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27968">
+                <Source>HGNC</Source>
+                <Reference>16700</Reference>
+              </ExternalReference>
+              <ExternalReference id="27967">
+                <Source>OMIM</Source>
+                <Reference>603693</Reference>
+              </ExternalReference>
+              <ExternalReference id="57349">
+                <Source>Reactome</Source>
+                <Reference>Q8WW38</Reference>
+              </ExternalReference>
+              <ExternalReference id="32713">
+                <Source>SwissProt</Source>
+                <Reference>Q8WW38</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7961">
+                <GeneLocus>8q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24385578[PMID]</SourceOfValidation>
+          <Gene id="20796">
+            <Name lang="en">GATA binding protein 6</Name>
+            <Symbol>GATA6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60724">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141448</Reference>
+              </ExternalReference>
+              <ExternalReference id="60725">
+                <Source>Genatlas</Source>
+                <Reference>GATA6</Reference>
+              </ExternalReference>
+              <ExternalReference id="60722">
+                <Source>HGNC</Source>
+                <Reference>4174</Reference>
+              </ExternalReference>
+              <ExternalReference id="60723">
+                <Source>OMIM</Source>
+                <Reference>601656</Reference>
+              </ExternalReference>
+              <ExternalReference id="83245">
+                <Source>Reactome</Source>
+                <Reference>Q92908</Reference>
+              </ExternalReference>
+              <ExternalReference id="60726">
+                <Source>SwissProt</Source>
+                <Reference>Q92908</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20689">
+                <GeneLocus>18q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="502">
+      <OrphaCode>2116</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2116</ExpertLink>
+      <Name lang="en">Hartnup disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31520464[PMID]</SourceOfValidation>
+          <Gene id="29243">
+            <Name lang="en">collectrin, amino acid transport regulator</Name>
+            <Symbol>CLTRN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NX17</Synonym>
+              <Synonym lang="en">collectrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189472">
+                <Source>HGNC</Source>
+                <Reference>29437</Reference>
+              </ExternalReference>
+              <ExternalReference id="193510">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147003</Reference>
+              </ExternalReference>
+              <ExternalReference id="193511">
+                <Source>OMIM</Source>
+                <Reference>300631</Reference>
+              </ExternalReference>
+              <ExternalReference id="201581">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBJ8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="82137">
+                <GeneLocus>Xp22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15286787[PMID]_15286788[PMID]</SourceOfValidation>
+          <Gene id="15518">
+            <Name lang="en">solute carrier family 6 member 19</Name>
+            <Symbol>SLC6A19</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hartnup disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57344">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174358</Reference>
+              </ExternalReference>
+              <ExternalReference id="36935">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A19</Reference>
+              </ExternalReference>
+              <ExternalReference id="26914">
+                <Source>HGNC</Source>
+                <Reference>27960</Reference>
+              </ExternalReference>
+              <ExternalReference id="26913">
+                <Source>OMIM</Source>
+                <Reference>608893</Reference>
+              </ExternalReference>
+              <ExternalReference id="57345">
+                <Source>Reactome</Source>
+                <Reference>Q695T7</Reference>
+              </ExternalReference>
+              <ExternalReference id="32489">
+                <Source>SwissProt</Source>
+                <Reference>Q695T7</Reference>
+              </ExternalReference>
+              <ExternalReference id="193656">
+                <Source>IUPHAR</Source>
+                <Reference>939</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66721">
+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="503">
+      <OrphaCode>2118</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2118</ExpertLink>
+      <Name lang="en">Hawkinsinuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11073718[PMID]_17560158[PMID]</SourceOfValidation>
+          <Gene id="16213">
+            <Name lang="en">4-hydroxyphenylpyruvate dioxygenase</Name>
+            <Symbol>HPD</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">4-HPPD</Synonym>
+              <Synonym lang="en">4HPPD</Synonym>
+              <Synonym lang="en">GLOD3</Synonym>
+              <Synonym lang="en">glyoxalase domain containing 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57347">
+                <Source>Reactome</Source>
+                <Reference>P32754</Reference>
+              </ExternalReference>
+              <ExternalReference id="33277">
+                <Source>SwissProt</Source>
+                <Reference>P32754</Reference>
+              </ExternalReference>
+              <ExternalReference id="57346">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158104</Reference>
+              </ExternalReference>
+              <ExternalReference id="30255">
+                <Source>Genatlas</Source>
+                <Reference>HPD</Reference>
+              </ExternalReference>
+              <ExternalReference id="30253">
+                <Source>HGNC</Source>
+                <Reference>5147</Reference>
+              </ExternalReference>
+              <ExternalReference id="82954">
+                <Source>IUPHAR</Source>
+                <Reference>2621</Reference>
+              </ExternalReference>
+              <ExternalReference id="30252">
+                <Source>OMIM</Source>
+                <Reference>609695</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8853">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="498">
+      <OrphaCode>351</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=351</ExpertLink>
+      <Name lang="en">Galactosialidosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15821">
+            <Name lang="en">cathepsin A</Name>
+            <Symbol>CTSA</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">carboxypeptidase C</Synonym>
+              <Synonym lang="en">carboxypeptidase Y-like kininase</Synonym>
+              <Synonym lang="en">carboxypeptidase-L</Synonym>
+              <Synonym lang="en">deamidase</Synonym>
+              <Synonym lang="en">lysosomal carboxypeptidase A</Synonym>
+              <Synonym lang="en">lysosomal protective protein</Synonym>
+              <Synonym lang="en">urinary kininase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57342">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064601</Reference>
+              </ExternalReference>
+              <ExternalReference id="37416">
+                <Source>Genatlas</Source>
+                <Reference>CTSA</Reference>
+              </ExternalReference>
+              <ExternalReference id="28349">
+                <Source>HGNC</Source>
+                <Reference>9251</Reference>
+              </ExternalReference>
+              <ExternalReference id="82871">
+                <Source>IUPHAR</Source>
+                <Reference>1581</Reference>
+              </ExternalReference>
+              <ExternalReference id="46528">
+                <Source>OMIM</Source>
+                <Reference>613111</Reference>
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+              <ExternalReference id="57343">
+                <Source>Reactome</Source>
+                <Reference>P10619</Reference>
+              </ExternalReference>
+              <ExternalReference id="32832">
+                <Source>SwissProt</Source>
+                <Reference>P10619</Reference>
+              </ExternalReference>
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+              <Locus id="8115">
+                <GeneLocus>20q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="493">
+      <OrphaCode>2020</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2020</ExpertLink>
+      <Name lang="en">Congenital fiber-type disproportion myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27816943[PMID]</SourceOfValidation>
+          <Gene id="25286">
+            <Name lang="en">mitogen-activated protein kinase kinase kinase 20</Name>
+            <Symbol>MAP3K20</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">MLK7</Synonym>
+              <Synonym lang="en">MLTK</Synonym>
+              <Synonym lang="en">MLTKalpha</Synonym>
+              <Synonym lang="en">MLTKbeta</Synonym>
+              <Synonym lang="en">MRK</Synonym>
+              <Synonym lang="en">ZAK</Synonym>
+              <Synonym lang="en">ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)</Synonym>
+              <Synonym lang="en">mixed lineage kinase 7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="138495">
+                <Source>HGNC</Source>
+                <Reference>17797</Reference>
+              </ExternalReference>
+              <ExternalReference id="138496">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091436</Reference>
+              </ExternalReference>
+              <ExternalReference id="138497">
+                <Source>OMIM</Source>
+                <Reference>609479</Reference>
+              </ExternalReference>
+              <ExternalReference id="190731">
+                <Source>IUPHAR</Source>
+                <Reference>2289</Reference>
+              </ExternalReference>
+              <ExternalReference id="143872">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="143873">
+                <Source>Reactome</Source>
+                <Reference>Q9NYL2</Reference>
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+              <Locus id="60871">
+                <GeneLocus>2q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301436[PMID]</SourceOfValidation>
+          <Gene id="15075">
+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEM3</Synonym>
+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+            <Name lang="en">selenoprotein N</Name>
+            <Symbol>SELENON</Symbol>
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+                <Reference>FBN1</Reference>
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+                <Reference>3603</Reference>
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+                <Reference>P35555</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18056">
+            <Name lang="en">ADAMTS like 4</Name>
+            <Symbol>ADAMTSL4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZP434K1772</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143382</Reference>
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+                <Reference>19706</Reference>
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+                <Reference>610113</Reference>
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+              <ExternalReference id="87986">
+                <Source>Reactome</Source>
+                <Reference>Q6UY14</Reference>
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+                <Reference>Q6UY14</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="548">
+      <OrphaCode>635</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=635</ExpertLink>
+      <Name lang="en">Neuroblastoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">MYCN proto-oncogene, bHLH transcription factor</Name>
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+            <SynonymList count="3">
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+              <Synonym lang="en">N-myc</Synonym>
+              <Synonym lang="en">bHLHe37</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>164840</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134323</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26560027[PMID]</SourceOfValidation>
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+              <Synonym lang="en">TTG1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P25800</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166407</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15024693[PMID]</SourceOfValidation>
+          <Gene id="15089">
+            <Name lang="en">paired like homeobox 2B</Name>
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+              <Synonym lang="en">NBPhox</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Reference>Q99453</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
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+                <Reference>ENSG00000131747</Reference>
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+                <Source>Reactome</Source>
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+            </GeneType>
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+              <ExternalReference id="44185">
+                <Source>HGNC</Source>
+                <Reference>7989</Reference>
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+              <ExternalReference id="44186">
+                <Source>OMIM</Source>
+                <Reference>164790</Reference>
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+              <ExternalReference id="56972">
+                <Source>Reactome</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="44187">
+                <Source>SwissProt</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="56971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213281</Reference>
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+              <ExternalReference id="44184">
+                <Source>Genatlas</Source>
+                <Reference>NRAS</Reference>
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+              <ExternalReference id="190466">
+                <Source>IUPHAR</Source>
+                <Reference>2823</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="546">
+      <OrphaCode>2635</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2635</ExpertLink>
+      <Name lang="en">Metatropic dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22791502[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
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+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
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+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
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+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+              <ExternalReference id="82619">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>606</OrphaCode>
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+      <Name lang="en">Proximal myotonic myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301639[PMID]</SourceOfValidation>
+          <Gene id="15756">
+            <Name lang="en">CCHC-type zinc finger nucleic acid binding protein</Name>
+            <Symbol>CNBP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CNBP1</Synonym>
+              <Synonym lang="en">RNF163</Synonym>
+              <Synonym lang="en">ZCCHC22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143499">
+                <Source>Reactome</Source>
+                <Reference>P62633</Reference>
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+              <ExternalReference id="57368">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169714</Reference>
+              </ExternalReference>
+              <ExternalReference id="28038">
+                <Source>Genatlas</Source>
+                <Reference>CNBP</Reference>
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+              <ExternalReference id="28036">
+                <Source>HGNC</Source>
+                <Reference>13164</Reference>
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+              <ExternalReference id="28035">
+                <Source>OMIM</Source>
+                <Reference>116955</Reference>
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+              <ExternalReference id="32728">
+                <Source>SwissProt</Source>
+                <Reference>P62633</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="558">
+      <OrphaCode>705</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=705</ExpertLink>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301640[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 26 member 4</Name>
+            <Symbol>SLC26A4</Symbol>
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+              <Synonym lang="en">PDS</Synonym>
+              <Synonym lang="en">pendrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193542">
+                <Source>IUPHAR</Source>
+                <Reference>1100</Reference>
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+              <ExternalReference id="57379">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091137</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC26A4</Reference>
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+              <ExternalReference id="25943">
+                <Source>HGNC</Source>
+                <Reference>8818</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605646</Reference>
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+              <ExternalReference id="57380">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43511</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301640[PMID]</SourceOfValidation>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 10</Name>
+            <Symbol>KCNJ10</Symbol>
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+              <Synonym lang="en">Kir4.1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000177807</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>20301640[PMID]</SourceOfValidation>
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+            <Name lang="en">forkhead box I1</Name>
+            <Symbol>FOXI1</Symbol>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">TRANCE receptor</Synonym>
+              <Synonym lang="en">TRANCE-R</Synonym>
+              <Synonym lang="en">familial expansile osteolysis</Synonym>
+              <Synonym lang="en">osteoclast differentiation factor receptor</Synonym>
+              <Synonym lang="en">receptor activator of nuclear factor kappa B</Synonym>
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+          <SourceOfValidation/>
+          <Gene id="15219">
+            <Name lang="en">roundabout guidance receptor 3</Name>
+            <Symbol>ROBO3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ21044</Synonym>
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">RBIG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154134</Reference>
+              </ExternalReference>
+              <ExternalReference id="25472">
+                <Source>Genatlas</Source>
+                <Reference>ROBO3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25470">
+                <Source>HGNC</Source>
+                <Reference>13433</Reference>
+              </ExternalReference>
+              <ExternalReference id="25469">
+                <Source>OMIM</Source>
+                <Reference>608630</Reference>
+              </ExternalReference>
+              <ExternalReference id="57375">
+                <Source>Reactome</Source>
+                <Reference>Q96MS0</Reference>
+              </ExternalReference>
+              <ExternalReference id="33777">
+                <Source>SwissProt</Source>
+                <Reference>Q96MS0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24427">
+                <GeneLocus>11q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="553">
+      <OrphaCode>2746</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2746</ExpertLink>
+      <Name lang="en">Opsismodysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23273567[PMID]_23263569[PMID]</SourceOfValidation>
+          <Gene id="21752">
+            <Name lang="en">inositol polyphosphate phosphatase like 1</Name>
+            <Symbol>INPPL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">51C protein</Synonym>
+              <Synonym lang="en">SH2 domain-containing inositol 5'-phosphatase 2</Synonym>
+              <Synonym lang="en">SHIP2</Synonym>
+              <Synonym lang="en">phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83635">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165458</Reference>
+              </ExternalReference>
+              <ExternalReference id="76588">
+                <Source>Genatlas</Source>
+                <Reference>INPPL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="76586">
+                <Source>HGNC</Source>
+                <Reference>6080</Reference>
+              </ExternalReference>
+              <ExternalReference id="190504">
+                <Source>IUPHAR</Source>
+                <Reference>1459</Reference>
+              </ExternalReference>
+              <ExternalReference id="76587">
+                <Source>OMIM</Source>
+                <Reference>600829</Reference>
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+              <ExternalReference id="83634">
+                <Source>Reactome</Source>
+                <Reference>O15357</Reference>
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+              <ExternalReference id="76589">
+                <Source>SwissProt</Source>
+                <Reference>O15357</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60417">
+                <GeneLocus>11q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="567">
+      <OrphaCode>2971</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2971</ExpertLink>
+      <Name lang="en">Peroxisomal acyl-CoA oxidase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22508517[PMID]</SourceOfValidation>
+          <Gene id="15072">
+            <Name lang="en">acyl-CoA oxidase 1</Name>
+            <Symbol>ACOX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PALMCOX</Synonym>
+              <Synonym lang="en">palmitoyl-CoA oxidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57385">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161533</Reference>
+              </ExternalReference>
+              <ExternalReference id="24770">
+                <Source>Genatlas</Source>
+                <Reference>ACOX1</Reference>
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+              <ExternalReference id="24768">
+                <Source>HGNC</Source>
+                <Reference>119</Reference>
+              </ExternalReference>
+              <ExternalReference id="24767">
+                <Source>OMIM</Source>
+                <Reference>609751</Reference>
+              </ExternalReference>
+              <ExternalReference id="57386">
+                <Source>Reactome</Source>
+                <Reference>Q15067</Reference>
+              </ExternalReference>
+              <ExternalReference id="32350">
+                <Source>SwissProt</Source>
+                <Reference>Q15067</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6717">
+                <GeneLocus>17q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="566">
+      <OrphaCode>2970</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2970</ExpertLink>
+      <Name lang="en">Prune belly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22077972[PMID]</SourceOfValidation>
+          <Gene id="21082">
+            <Name lang="en">cholinergic receptor muscarinic 3</Name>
+            <Symbol>CHRM3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">'acetylcholine receptor, muscarinic 3'</Synonym>
+              <Synonym lang="en">Acetylcholine receptor, muscarinic 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83342">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133019</Reference>
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+              <ExternalReference id="61760">
+                <Source>Genatlas</Source>
+                <Reference>CHRM3</Reference>
+              </ExternalReference>
+              <ExternalReference id="61758">
+                <Source>HGNC</Source>
+                <Reference>1952</Reference>
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+              <ExternalReference id="83343">
+                <Source>IUPHAR</Source>
+                <Reference>15</Reference>
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+              <ExternalReference id="61759">
+                <Source>OMIM</Source>
+                <Reference>118494</Reference>
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+              <ExternalReference id="83341">
+                <Source>Reactome</Source>
+                <Reference>P20309</Reference>
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+              <ExternalReference id="61761">
+                <Source>SwissProt</Source>
+                <Reference>P20309</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q43</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="565">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=744</ExpertLink>
+      <Name lang="en">Proteus syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>12471211[PMID]_11476841[PMID]_12938083[PMID]_11476841[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+              <ExternalReference id="25221">
+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
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+                <Reference>PTEN</Reference>
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+              <Locus id="66529">
+                <GeneLocus>10q23.31</GeneLocus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21793738[PMID]</SourceOfValidation>
+          <Gene id="20544">
+            <Name lang="en">AKT serine/threonine kinase 1</Name>
+            <Symbol>AKT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AKT</Synonym>
+              <Synonym lang="en">PKB</Synonym>
+              <Synonym lang="en">PRKBA</Synonym>
+              <Synonym lang="en">RAC</Synonym>
+              <Synonym lang="en">RAC-alpha</Synonym>
+              <Synonym lang="en">protein kinase B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142208</Reference>
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+                <Reference>AKT1</Reference>
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+                <Reference>391</Reference>
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+                <Reference>1479</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P31749</Reference>
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+    <Disorder id="564">
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+      <Name lang="en">Familial spontaneous pneumothorax</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">folliculin</Name>
+            <Symbol>FLCN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BHD</Synonym>
+              <Synonym lang="en">DENND8B</Synonym>
+              <Synonym lang="en">MGC17998</Synonym>
+              <Synonym lang="en">MGC23445</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000154803</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FLCN</Reference>
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+                <Reference>27310</Reference>
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+                <Reference>607273</Reference>
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+                <Reference>Q8NFG4</Reference>
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+      <Name lang="en">Neuralgic amyotrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15045">
+            <Name lang="en">septin 9</Name>
+            <Symbol>SEPTIN9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AF17q25</Synonym>
+              <Synonym lang="en">KIAA0991</Synonym>
+              <Synonym lang="en">MSF1</Synonym>
+              <Synonym lang="en">Ov/Br septin</Synonym>
+              <Synonym lang="en">PNUTL4</Synonym>
+              <Synonym lang="en">SeptD1</Synonym>
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+                <Reference>SEPT9</Reference>
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+                <Reference>7323</Reference>
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+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRA1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125398</Reference>
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+                <Reference>11204</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608160</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48436</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48436</Reference>
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+      <OrphaCode>3071</OrphaCode>
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+      <Name lang="en">Costello syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16221">
+            <Name lang="en">HRas proto-oncogene, GTPase</Name>
+            <Symbol>HRAS</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>5173</Reference>
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+                <Reference>190020</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P01112</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01112</Reference>
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+              <ExternalReference id="57391">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174775</Reference>
+              </ExternalReference>
+              <ExternalReference id="30288">
+                <Source>Genatlas</Source>
+                <Reference>HRAS</Reference>
+              </ExternalReference>
+              <ExternalReference id="193594">
+                <Source>IUPHAR</Source>
+                <Reference>2822</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66597">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="571">
+      <OrphaCode>763</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=763</ExpertLink>
+      <Name lang="en">Pycnodysostosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21569238[PMID]</SourceOfValidation>
+          <Gene id="15823">
+            <Name lang="en">cathepsin K</Name>
+            <Symbol>CTSK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKND</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="28358">
+                <Source>OMIM</Source>
+                <Reference>601105</Reference>
+              </ExternalReference>
+              <ExternalReference id="57390">
+                <Source>Reactome</Source>
+                <Reference>P43235</Reference>
+              </ExternalReference>
+              <ExternalReference id="32834">
+                <Source>SwissProt</Source>
+                <Reference>P43235</Reference>
+              </ExternalReference>
+              <ExternalReference id="57389">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143387</Reference>
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+              <ExternalReference id="28357">
+                <Source>Genatlas</Source>
+                <Reference>CTSK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28359">
+                <Source>HGNC</Source>
+                <Reference>2536</Reference>
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+              <ExternalReference id="82874">
+                <Source>IUPHAR</Source>
+                <Reference>2350</Reference>
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+                <GeneLocus>1q21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="516">
+      <OrphaCode>2301</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2301</ExpertLink>
+      <Name lang="en">Congenital short bowel syndrome</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>23037936[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57957">
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+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22155368[PMID]</SourceOfValidation>
+          <Gene id="20828">
+            <Name lang="en">CXADR like membrane protein</Name>
+            <Symbol>CLMP</Symbol>
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+              <Synonym lang="en">ACAM</Synonym>
+              <Synonym lang="en">ASAM</Synonym>
+              <Synonym lang="en">Adipocyte adhesion molecule</Synonym>
+              <Synonym lang="en">Adipocyte-specific adhesion molecule</Synonym>
+              <Synonym lang="en">Coxsackie- and adenovirus receptor-like membrane protein</Synonym>
+              <Synonym lang="en">FLJ22415</Synonym>
+              <Synonym lang="en">adipocyte adhesion molecule</Synonym>
+              <Synonym lang="en">adipocyte-specific adhesion molecule</Synonym>
+              <Synonym lang="en">coxsackie- and adenovirus receptor-like membrane protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000166250</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>24039</Reference>
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+              <ExternalReference id="61139">
+                <Source>OMIM</Source>
+                <Reference>611693</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H6B4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=469</ExpertLink>
+      <Name lang="en">Hereditary fructose intolerance</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20848650[PMID]</SourceOfValidation>
+          <Gene id="15492">
+            <Name lang="en">aldolase, fructose-bisphosphate B</Name>
+            <Symbol>ALDOB</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>P05062</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Jacobsen syndrome</Name>
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+            <Name lang="en">Fli-1 proto-oncogene, ETS transcription factor</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3749</Reference>
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+              <Synonym lang="en">Meckel syndrome, type 4</Synonym>
+              <Synonym lang="en">NPHP6</Synonym>
+              <Synonym lang="en">POC3</Synonym>
+              <Synonym lang="en">POC3 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN6</Synonym>
+              <Synonym lang="en">cancer/testis antigen 87</Synonym>
+              <Synonym lang="en">nephrocystin-6</Synonym>
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+                <Reference>Q9P2K1</Reference>
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+                <Source>Ensembl</Source>
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+            <Symbol>TMEM138</Symbol>
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+                <Reference>ENSG00000149483</Reference>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22863007[PMID]</SourceOfValidation>
+          <Gene id="21454">
+            <Name lang="en">zinc finger protein 423</Name>
+            <Symbol>ZNF423</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">Early B-cell factor associated zinc finger protein</Synonym>
+              <Synonym lang="en">Ebfaz</Synonym>
+              <Synonym lang="en">JBTS19</Synonym>
+              <Synonym lang="en">KIAA0760</Synonym>
+              <Synonym lang="en">NPHP14</Synonym>
+              <Synonym lang="en">OAZ</Synonym>
+              <Synonym lang="en">OLF-1/EBF associated zinc finger gene</Synonym>
+              <Synonym lang="en">Roaz</Synonym>
+              <Synonym lang="en">Zfp104</Synonym>
+              <Synonym lang="en">early B-cell factor associated zinc finger protein</Synonym>
+              <Synonym lang="en">hOAZ</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83512">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102935</Reference>
+              </ExternalReference>
+              <ExternalReference id="73386">
+                <Source>Genatlas</Source>
+                <Reference>ZNF423</Reference>
+              </ExternalReference>
+              <ExternalReference id="73384">
+                <Source>HGNC</Source>
+                <Reference>16762</Reference>
+              </ExternalReference>
+              <ExternalReference id="73385">
+                <Source>OMIM</Source>
+                <Reference>604557</Reference>
+              </ExternalReference>
+              <ExternalReference id="73387">
+                <Source>SwissProt</Source>
+                <Reference>Q2M1K9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25629">
+                <GeneLocus>16q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301500[PMID]_23012439[PMID]</SourceOfValidation>
+          <Gene id="21736">
+            <Name lang="en">transmembrane protein 231</Name>
+            <Symbol>TMEM231</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ALYE870</Synonym>
+              <Synonym lang="en">FLJ22167</Synonym>
+              <Synonym lang="en">JBTS20</Synonym>
+              <Synonym lang="en">MKS11</Synonym>
+              <Synonym lang="en">PRO1886</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83618">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205084</Reference>
+              </ExternalReference>
+              <ExternalReference id="97365">
+                <Source>Genatlas</Source>
+                <Reference>TMEM231</Reference>
+              </ExternalReference>
+              <ExternalReference id="76131">
+                <Source>HGNC</Source>
+                <Reference>37234</Reference>
+              </ExternalReference>
+              <ExternalReference id="76132">
+                <Source>OMIM</Source>
+                <Reference>614949</Reference>
+              </ExternalReference>
+              <ExternalReference id="76133">
+                <Source>SwissProt</Source>
+                <Reference>Q9H6L2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16969">
+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="512">
+      <OrphaCode>2253</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2253</ExpertLink>
+      <Name lang="en">Foveal hypoplasia-presenile cataract syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9931324[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
+              </ExternalReference>
+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
+              </ExternalReference>
+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18113">
+      <OrphaCode>180188</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=180188</ExpertLink>
+      <Name lang="en">Isolated congenital breast hypoplasia/aplasia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24781087[PMID]</SourceOfValidation>
+          <Gene id="23005">
+            <Name lang="en">protein tyrosine phosphatase receptor type F</Name>
+            <Symbol>PTPRF</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100359">
+                <Source>Reactome</Source>
+                <Reference>P10586</Reference>
+              </ExternalReference>
+              <ExternalReference id="94552">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142949</Reference>
+              </ExternalReference>
+              <ExternalReference id="94550">
+                <Source>Genatlas</Source>
+                <Reference>PTPRF</Reference>
+              </ExternalReference>
+              <ExternalReference id="94548">
+                <Source>HGNC</Source>
+                <Reference>9670</Reference>
+              </ExternalReference>
+              <ExternalReference id="94549">
+                <Source>OMIM</Source>
+                <Reference>179590</Reference>
+              </ExternalReference>
+              <ExternalReference id="94551">
+                <Source>SwissProt</Source>
+                <Reference>P10586</Reference>
+              </ExternalReference>
+              <ExternalReference id="190602">
+                <Source>IUPHAR</Source>
+                <Reference>1855</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60613">
+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="515">
+      <OrphaCode>2300</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2300</ExpertLink>
+      <Name lang="en">Multiple intestinal atresia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23423984[PMID]</SourceOfValidation>
+          <Gene id="22146">
+            <Name lang="en">tetratricopeptide repeat domain 7A</Name>
+            <Symbol>TTC7A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1140</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83827">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068724</Reference>
+              </ExternalReference>
+              <ExternalReference id="79444">
+                <Source>Genatlas</Source>
+                <Reference>TTC7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="79442">
+                <Source>HGNC</Source>
+                <Reference>19750</Reference>
+              </ExternalReference>
+              <ExternalReference id="79443">
+                <Source>OMIM</Source>
+                <Reference>609332</Reference>
+              </ExternalReference>
+              <ExternalReference id="79445">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULT0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25771">
+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="526">
+      <OrphaCode>502</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=502</ExpertLink>
+      <Name lang="en">Trichorhinophalangeal syndrome type 2</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15667">
+            <Name lang="en">transcriptional repressor GATA binding 1</Name>
+            <Symbol>TRPS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GC79</Synonym>
+              <Synonym lang="en">LGCR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104447</Reference>
+              </ExternalReference>
+              <ExternalReference id="27625">
+                <Source>Genatlas</Source>
+                <Reference>TRPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27623">
+                <Source>HGNC</Source>
+                <Reference>12340</Reference>
+              </ExternalReference>
+              <ExternalReference id="27622">
+                <Source>OMIM</Source>
+                <Reference>604386</Reference>
+              </ExternalReference>
+              <ExternalReference id="32639">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHF7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7837">
+                <GeneLocus>8q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16004">
+            <Name lang="en">exostosin glycosyltransferase 1</Name>
+            <Symbol>EXT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase</Synonym>
+              <Synonym lang="en">N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase</Synonym>
+              <Synonym lang="en">ttv</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="29225">
+                <Source>HGNC</Source>
+                <Reference>3512</Reference>
+              </ExternalReference>
+              <ExternalReference id="29224">
+                <Source>OMIM</Source>
+                <Reference>608177</Reference>
+              </ExternalReference>
+              <ExternalReference id="82904">
+                <Source>Reactome</Source>
+                <Reference>Q16394</Reference>
+              </ExternalReference>
+              <ExternalReference id="33018">
+                <Source>SwissProt</Source>
+                <Reference>Q16394</Reference>
+              </ExternalReference>
+              <ExternalReference id="57361">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182197</Reference>
+              </ExternalReference>
+              <ExternalReference id="29227">
+                <Source>Genatlas</Source>
+                <Reference>EXT1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8455">
+                <GeneLocus>8q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="520">
+      <OrphaCode>477</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477</ExpertLink>
+      <Name lang="en">KID syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16130">
+            <Name lang="en">gap junction protein beta 2</Name>
+            <Symbol>GJB2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CX26</Synonym>
+              <Synonym lang="en">NSRD1</Synonym>
+              <Synonym lang="en">connexin 26</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57357">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165474</Reference>
+              </ExternalReference>
+              <ExternalReference id="29851">
+                <Source>Genatlas</Source>
+                <Reference>GJB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29853">
+                <Source>HGNC</Source>
+                <Reference>4284</Reference>
+              </ExternalReference>
+              <ExternalReference id="29852">
+                <Source>OMIM</Source>
+                <Reference>121011</Reference>
+              </ExternalReference>
+              <ExternalReference id="57358">
+                <Source>Reactome</Source>
+                <Reference>P29033</Reference>
+              </ExternalReference>
+              <ExternalReference id="33145">
+                <Source>SwissProt</Source>
+                <Reference>P29033</Reference>
+              </ExternalReference>
+              <ExternalReference id="193592">
+                <Source>IUPHAR</Source>
+                <Reference>716</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66593">
+                <GeneLocus>13q12.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15140211[PMID]</SourceOfValidation>
+          <Gene id="16133">
+            <Name lang="en">gap junction protein beta 6</Name>
+            <Symbol>GJB6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CX30</Synonym>
+              <Synonym lang="en">EDH</Synonym>
+              <Synonym lang="en">HED</Synonym>
+              <Synonym lang="en">connexin 30</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57359">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121742</Reference>
+              </ExternalReference>
+              <ExternalReference id="29868">
+                <Source>Genatlas</Source>
+                <Reference>GJB6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4288</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604418</Reference>
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+              <ExternalReference id="57360">
+                <Source>Reactome</Source>
+                <Reference>O95452</Reference>
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+              <ExternalReference id="33148">
+                <Source>SwissProt</Source>
+                <Reference>O95452</Reference>
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+              <ExternalReference id="193587">
+                <Source>IUPHAR</Source>
+                <Reference>717</Reference>
+              </ExternalReference>
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+              <Locus id="66583">
+                <GeneLocus>13q12.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="531">
+      <OrphaCode>2377</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2377</ExpertLink>
+      <Name lang="en">Laurence-Moon syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25480986[PMID]</SourceOfValidation>
+          <Gene id="17190">
+            <Name lang="en">patatin like phospholipase domain containing 6</Name>
+            <Symbol>PNPLA6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">NTE</Synonym>
+              <Synonym lang="en">SPG39</Synonym>
+              <Synonym lang="en">SWS</Synonym>
+              <Synonym lang="en">iPLA2delta</Synonym>
+              <Synonym lang="en">neuropathy target esterase</Synonym>
+              <Synonym lang="en">sws</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100313">
+                <Source>Reactome</Source>
+                <Reference>Q8IY17</Reference>
+              </ExternalReference>
+              <ExternalReference id="36231">
+                <Source>Genatlas</Source>
+                <Reference>PNPLA6</Reference>
+              </ExternalReference>
+              <ExternalReference id="36232">
+                <Source>HGNC</Source>
+                <Reference>16268</Reference>
+              </ExternalReference>
+              <ExternalReference id="36234">
+                <Source>OMIM</Source>
+                <Reference>603197</Reference>
+              </ExternalReference>
+              <ExternalReference id="36233">
+                <Source>SwissProt</Source>
+                <Reference>Q8IY17</Reference>
+              </ExternalReference>
+              <ExternalReference id="60076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000032444</Reference>
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+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="541">
+      <OrphaCode>2466</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2466</ExpertLink>
+      <Name lang="en">MASA syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301657[PMID]</SourceOfValidation>
+          <Gene id="16330">
+            <Name lang="en">L1 cell adhesion molecule</Name>
+            <Symbol>L1CAM</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CAML1</Synonym>
+              <Synonym lang="en">CD171</Synonym>
+              <Synonym lang="en">NCAM-L1</Synonym>
+              <Synonym lang="en">neural cell adhesion molecule L1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56906">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198910</Reference>
+              </ExternalReference>
+              <ExternalReference id="30800">
+                <Source>Genatlas</Source>
+                <Reference>L1CAM</Reference>
+              </ExternalReference>
+              <ExternalReference id="30802">
+                <Source>HGNC</Source>
+                <Reference>6470</Reference>
+              </ExternalReference>
+              <ExternalReference id="30801">
+                <Source>OMIM</Source>
+                <Reference>308840</Reference>
+              </ExternalReference>
+              <ExternalReference id="56907">
+                <Source>Reactome</Source>
+                <Reference>P32004</Reference>
+              </ExternalReference>
+              <ExternalReference id="33395">
+                <Source>SwissProt</Source>
+                <Reference>P32004</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9077">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="540">
+      <OrphaCode>560</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=560</ExpertLink>
+      <Name lang="en">Marshall syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15763">
+            <Name lang="en">collagen type XI alpha 1 chain</Name>
+            <Symbol>COL11A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CO11A1</Synonym>
+              <Synonym lang="en">STL2</Synonym>
+              <Synonym lang="en">collagen XI, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57364">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060718</Reference>
+              </ExternalReference>
+              <ExternalReference id="28070">
+                <Source>Genatlas</Source>
+                <Reference>COL11A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28072">
+                <Source>HGNC</Source>
+                <Reference>2186</Reference>
+              </ExternalReference>
+              <ExternalReference id="28071">
+                <Source>OMIM</Source>
+                <Reference>120280</Reference>
+              </ExternalReference>
+              <ExternalReference id="82862">
+                <Source>Reactome</Source>
+                <Reference>P12107</Reference>
+              </ExternalReference>
+              <ExternalReference id="32735">
+                <Source>SwissProt</Source>
+                <Reference>P12107</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26115">
+                <GeneLocus>1p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="543">
+      <OrphaCode>587</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=587</ExpertLink>
+      <Name lang="en">Muir-Torre syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15235030[PMID]_25197397[PMID]_25006859[PMID]</SourceOfValidation>
+          <Gene id="16407">
+            <Name lang="en">mutL homolog 1</Name>
+            <Symbol>MLH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FCC2</Synonym>
+              <Synonym lang="en">HNPCC</Synonym>
+              <Synonym lang="en">HNPCC2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57365">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076242</Reference>
+              </ExternalReference>
+              <ExternalReference id="31167">
+                <Source>Genatlas</Source>
+                <Reference>MLH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31165">
+                <Source>HGNC</Source>
+                <Reference>7127</Reference>
+              </ExternalReference>
+              <ExternalReference id="31164">
+                <Source>OMIM</Source>
+                <Reference>120436</Reference>
+              </ExternalReference>
+              <ExternalReference id="57366">
+                <Source>Reactome</Source>
+                <Reference>P40692</Reference>
+              </ExternalReference>
+              <ExternalReference id="33471">
+                <Source>SwissProt</Source>
+                <Reference>P40692</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23875">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14994245[PMID]_15235030[PMID]_25006859[PMID]</SourceOfValidation>
+          <Gene id="16466">
+            <Name lang="en">mutS homolog 2</Name>
+            <Symbol>MSH2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DNA mismatch repair protein Msh2</Synonym>
+              <Synonym lang="en">HNPCC</Synonym>
+              <Synonym lang="en">HNPCC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57367">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095002</Reference>
+              </ExternalReference>
+              <ExternalReference id="31436">
+                <Source>Genatlas</Source>
+                <Reference>MSH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31434">
+                <Source>HGNC</Source>
+                <Reference>7325</Reference>
+              </ExternalReference>
+              <ExternalReference id="31433">
+                <Source>OMIM</Source>
+                <Reference>609309</Reference>
+              </ExternalReference>
+              <ExternalReference id="91589">
+                <Source>Reactome</Source>
+                <Reference>P43246</Reference>
+              </ExternalReference>
+              <ExternalReference id="33531">
+                <Source>SwissProt</Source>
+                <Reference>P43246</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23085">
+                <GeneLocus>2p21-p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22734033[PMID]_25006859[PMID]</SourceOfValidation>
+          <Gene id="16467">
+            <Name lang="en">mutS homolog 6</Name>
+            <Symbol>MSH6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58412">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116062</Reference>
+              </ExternalReference>
+              <ExternalReference id="31438">
+                <Source>Genatlas</Source>
+                <Reference>MSH6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31440">
+                <Source>HGNC</Source>
+                <Reference>7329</Reference>
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+              <ExternalReference id="31439">
+                <Source>OMIM</Source>
+                <Reference>600678</Reference>
+              </ExternalReference>
+              <ExternalReference id="91590">
+                <Source>Reactome</Source>
+                <Reference>P52701</Reference>
+              </ExternalReference>
+              <ExternalReference id="33532">
+                <Source>SwissProt</Source>
+                <Reference>P52701</Reference>
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+            <LocusList count="1">
+              <Locus id="24697">
+                <GeneLocus>2p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="542">
+      <OrphaCode>570</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=570</ExpertLink>
+      <Name lang="en">Moebius syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26068067[PMID]</SourceOfValidation>
+          <Gene id="22582">
+            <Name lang="en">plexin D1</Name>
+            <Symbol>PLXND1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0620</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84650">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004399</Reference>
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+              <ExternalReference id="84524">
+                <Source>Genatlas</Source>
+                <Reference>PLXND1</Reference>
+              </ExternalReference>
+              <ExternalReference id="84522">
+                <Source>HGNC</Source>
+                <Reference>9107</Reference>
+              </ExternalReference>
+              <ExternalReference id="84523">
+                <Source>OMIM</Source>
+                <Reference>604282</Reference>
+              </ExternalReference>
+              <ExternalReference id="84649">
+                <Source>Reactome</Source>
+                <Reference>Q9Y4D7</Reference>
+              </ExternalReference>
+              <ExternalReference id="84525">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4D7</Reference>
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+            <LocusList count="1">
+              <Locus id="25705">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26068067[PMID]</SourceOfValidation>
+          <Gene id="23362">
+            <Name lang="en">REV3 like, DNA directed polymerase zeta catalytic subunit</Name>
+            <Symbol>REV3L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">POLZ</Synonym>
+              <Synonym lang="en">REV3</Synonym>
+              <Synonym lang="en">polymerase, DNA, zeta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="96353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009413</Reference>
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+              <ExternalReference id="96350">
+                <Source>Genatlas</Source>
+                <Reference>REV3L</Reference>
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+              <ExternalReference id="96348">
+                <Source>HGNC</Source>
+                <Reference>9968</Reference>
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+              <ExternalReference id="96349">
+                <Source>OMIM</Source>
+                <Reference>602776</Reference>
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+              <ExternalReference id="96352">
+                <Source>Reactome</Source>
+                <Reference>O60673</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60673</Reference>
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+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18083">
+      <OrphaCode>179494</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=179494</ExpertLink>
+      <Name lang="en">Obesity due to leptin receptor gene deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>9537324[PMID]_17229951[PMID]</SourceOfValidation>
+          <Gene id="16351">
+            <Name lang="en">leptin receptor</Name>
+            <Symbol>LEPR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD295</Synonym>
+              <Synonym lang="en">OBR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193583">
+                <Source>IUPHAR</Source>
+                <Reference>1712</Reference>
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+              <ExternalReference id="60262">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116678</Reference>
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+              <ExternalReference id="30903">
+                <Source>Genatlas</Source>
+                <Reference>LEPR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6554</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601007</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48357</Reference>
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+              <ExternalReference id="33416">
+                <Source>SwissProt</Source>
+                <Reference>P48357</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=287</ExpertLink>
+      <Name lang="en">Classical Ehlers-Danlos syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15580559[PMID]_22696272[PMID]</SourceOfValidation>
+          <Gene id="15777">
+            <Name lang="en">collagen type V alpha 2 chain</Name>
+            <Symbol>COL5A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AB collagen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59554">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204262</Reference>
+              </ExternalReference>
+              <ExternalReference id="36866">
+                <Source>Genatlas</Source>
+                <Reference>COL5A2</Reference>
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+              <ExternalReference id="28139">
+                <Source>HGNC</Source>
+                <Reference>2210</Reference>
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+              <ExternalReference id="28138">
+                <Source>OMIM</Source>
+                <Reference>120190</Reference>
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+              <ExternalReference id="59555">
+                <Source>Reactome</Source>
+                <Reference>P05997</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P05997</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15580559[PMID]_22696272[PMID]</SourceOfValidation>
+          <Gene id="15776">
+            <Name lang="en">collagen type V alpha 1 chain</Name>
+            <Symbol>COL5A1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130635</Reference>
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+              <ExternalReference id="28136">
+                <Source>Genatlas</Source>
+                <Reference>COL5A1</Reference>
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+              <ExternalReference id="28134">
+                <Source>HGNC</Source>
+                <Reference>2209</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120215</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P20908</Reference>
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+                <Reference>P20908</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10739762[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
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+                <Reference>ENSG00000108821</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
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+                <Reference>2197</Reference>
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+                <Reference>120150</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
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+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="631">
+      <OrphaCode>1020</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1020</ExpertLink>
+      <Name lang="en">Early-onset autosomal dominant Alzheimer disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27037229[PMID]</SourceOfValidation>
+          <Gene id="25991">
+            <Name lang="en">ATP binding cassette subfamily A member 7</Name>
+            <Symbol>ABCA7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ABCX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="150893">
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+                <Reference>37</Reference>
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+              <ExternalReference id="150894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064687</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IZY2</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605414</Reference>
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+              <ExternalReference id="150897">
+                <Source>Genatlas</Source>
+                <Reference>ABCA7</Reference>
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+              <ExternalReference id="150898">
+                <Source>Reactome</Source>
+                <Reference>Q8IZY2</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>762</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23380991[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58272">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
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+              <ExternalReference id="37386">
+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
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+                <Reference>17761</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58273">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZC2</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301414[PMID]</SourceOfValidation>
+          <Gene id="15160">
+            <Name lang="en">presenilin 1</Name>
+            <Symbol>PSEN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">PS1</Synonym>
+              <Synonym lang="en">S182</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080815</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PSEN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9508</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2402</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P49768</Reference>
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+                <Reference>P49768</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301414[PMID]</SourceOfValidation>
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+            <Name lang="en">presenilin 2</Name>
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+              <Synonym lang="en">AD3L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143801</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">SorLA-1</Synonym>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="57463">
+                <Source>Reactome</Source>
+                <Reference>Q14896</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29754768[PMID]</SourceOfValidation>
+          <Gene id="27309">
+            <Name lang="en">phosphopantothenoylcysteine synthetase</Name>
+            <Symbol>PPCS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ11838</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="159159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127125</Reference>
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+              <ExternalReference id="159160">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAB8</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609853</Reference>
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+              <ExternalReference id="159162">
+                <Source>Genatlas</Source>
+                <Reference>PPCS</Reference>
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+              <ExternalReference id="159163">
+                <Source>Reactome</Source>
+                <Reference>Q9HAB8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30518548[PMID]</SourceOfValidation>
+          <Gene id="28203">
+            <Name lang="en">cyclase associated actin cytoskeleton regulatory protein 2</Name>
+            <Symbol>CAP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>20039</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112186</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40123</Reference>
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+              <ExternalReference id="170996">
+                <Source>Reactome</Source>
+                <Reference>P40123</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15034580[PMID]</SourceOfValidation>
+          <Gene id="15057">
+            <Name lang="en">ATP binding cassette subfamily C member 9</Name>
+            <Symbol>ABCC9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CMD1O</Synonym>
+              <Synonym lang="en">SUR2</Synonym>
+              <Synonym lang="en">sulfonylurea receptor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069431</Reference>
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+              <ExternalReference id="24698">
+                <Source>Genatlas</Source>
+                <Reference>ABCC9</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>601439</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60706</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60706</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9563954[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="15076">
+            <Name lang="en">actin alpha cardiac muscle 1</Name>
+            <Symbol>ACTC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1R</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57444">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159251</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTC1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17186461[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="15160">
+            <Name lang="en">presenilin 1</Name>
+            <Symbol>PSEN1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080815</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PSEN1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2402</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">presenilin 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">succinate dehydrogenase complex flavoprotein subunit A</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129991</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TNNI3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11947</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11684629[PMID]_15542288[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="15640">
+            <Name lang="en">troponin T2, cardiac type</Name>
+            <Symbol>TNNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMPD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000118194</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TNNT2</Reference>
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+                <Reference>191045</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P45379</Reference>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11273725[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="15647">
+            <Name lang="en">tropomyosin 1</Name>
+            <Symbol>TPM1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140416</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15672">
+            <Name lang="en">titin</Name>
+            <Symbol>TTN</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">CMPD4</Synonym>
+              <Synonym lang="en">FLJ32040</Synonym>
+              <Synonym lang="en">LGMD2J</Synonym>
+              <Synonym lang="en">MYLK5</Synonym>
+              <Synonym lang="en">TMD</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WZ42</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>12403</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2265</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16483541[PMID]_16793013[PMID]</SourceOfValidation>
+          <Gene id="15805">
+            <Name lang="en">crystallin alpha B</Name>
+            <Symbol>CRYAB</Symbol>
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+              <Synonym lang="en">HSPB5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109846</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">CMD1M</Synonym>
+              <Synonym lang="en">MLP</Synonym>
+              <Synonym lang="en">cardiac LIM protein</Synonym>
+              <Synonym lang="en">muscle LIM protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">desmin</Name>
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+              <Synonym lang="en">intermediate filament protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>MYH6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7576</Reference>
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+                <Reference>160710</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P13533</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11106718[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="16501">
+            <Name lang="en">myosin heavy chain 7</Name>
+            <Symbol>MYH7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1S</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092054</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24777450[PMID]</SourceOfValidation>
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+            <Name lang="en">Raf-1 proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>RAF1</Symbol>
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+              <Synonym lang="en">Raf-1</Synonym>
+              <Synonym lang="en">c-Raf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000132155</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16247757[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="17255">
+            <Name lang="en">thymopoietin</Name>
+            <Symbol>TMPO</Symbol>
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+              <Synonym lang="en">LEMD4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120802</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+              <Locus id="11719">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21965549[PMID]</SourceOfValidation>
+          <Gene id="21193">
+            <Name lang="en">GATA zinc finger domain containing 1</Name>
+            <Symbol>GATAD1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ22489</Synonym>
+              <Synonym lang="en">ODAG</Synonym>
+              <Synonym lang="en">Ocular development associated gene</Synonym>
+              <Synonym lang="en">RG083M05.2</Synonym>
+              <Synonym lang="en">ocular development associated gene</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83434">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157259</Reference>
+              </ExternalReference>
+              <ExternalReference id="69921">
+                <Source>Genatlas</Source>
+                <Reference>GATAD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="69919">
+                <Source>HGNC</Source>
+                <Reference>29941</Reference>
+              </ExternalReference>
+              <ExternalReference id="69920">
+                <Source>OMIM</Source>
+                <Reference>614518</Reference>
+              </ExternalReference>
+              <ExternalReference id="69922">
+                <Source>SwissProt</Source>
+                <Reference>Q8WUU5</Reference>
+              </ExternalReference>
+              <ExternalReference id="143947">
+                <Source>Reactome</Source>
+                <Reference>Q8WUU5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39363">
+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18006477[PMID]_22892539[PMID]</SourceOfValidation>
+          <Gene id="21896">
+            <Name lang="en">myopalladin</Name>
+            <Symbol>MYPN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'sarcomeric protein myopalladin, 145 kDa'</Synonym>
+              <Synonym lang="en">MYOP</Synonym>
+              <Synonym lang="en">Sarcomeric protein myopalladin, 145 kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138347</Reference>
+              </ExternalReference>
+              <ExternalReference id="77808">
+                <Source>Genatlas</Source>
+                <Reference>MYPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="77806">
+                <Source>HGNC</Source>
+                <Reference>23246</Reference>
+              </ExternalReference>
+              <ExternalReference id="77807">
+                <Source>OMIM</Source>
+                <Reference>608517</Reference>
+              </ExternalReference>
+              <ExternalReference id="77809">
+                <Source>SwissProt</Source>
+                <Reference>Q86TC9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24339">
+                <GeneLocus>10q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17646580[PMID]</SourceOfValidation>
+          <Gene id="22041">
+            <Name lang="en">laminin subunit alpha 4</Name>
+            <Symbol>LAMA4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LAMA3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83799">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112769</Reference>
+              </ExternalReference>
+              <ExternalReference id="79101">
+                <Source>Genatlas</Source>
+                <Reference>LAMA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="79099">
+                <Source>HGNC</Source>
+                <Reference>6484</Reference>
+              </ExternalReference>
+              <ExternalReference id="79100">
+                <Source>OMIM</Source>
+                <Reference>600133</Reference>
+              </ExternalReference>
+              <ExternalReference id="83798">
+                <Source>Reactome</Source>
+                <Reference>Q16363</Reference>
+              </ExternalReference>
+              <ExternalReference id="79102">
+                <Source>SwissProt</Source>
+                <Reference>Q16363</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12551">
+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768516[PMID]</SourceOfValidation>
+          <Gene id="22242">
+            <Name lang="en">PR/SET domain 16</Name>
+            <Symbol>PRDM16</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">KIAA1675</Synonym>
+              <Synonym lang="en">KMT8F</Synonym>
+              <Synonym lang="en">MDS1/EVI1-like</Synonym>
+              <Synonym lang="en">MEL1</Synonym>
+              <Synonym lang="en">MGC166915</Synonym>
+              <Synonym lang="en">PFM13</Synonym>
+              <Synonym lang="en">PR-domain zinc finger protein 16</Synonym>
+              <Synonym lang="en">Transcription factor MEL1</Synonym>
+              <Synonym lang="en">transcription factor MEL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83922">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142611</Reference>
+              </ExternalReference>
+              <ExternalReference id="80570">
+                <Source>Genatlas</Source>
+                <Reference>PRDM16</Reference>
+              </ExternalReference>
+              <ExternalReference id="80568">
+                <Source>HGNC</Source>
+                <Reference>14000</Reference>
+              </ExternalReference>
+              <ExternalReference id="80569">
+                <Source>OMIM</Source>
+                <Reference>605557</Reference>
+              </ExternalReference>
+              <ExternalReference id="97351">
+                <Source>Reactome</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="80571">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18721">
+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19525294[PMID]_20301486[PMID]</SourceOfValidation>
+          <Gene id="23568">
+            <Name lang="en">ankyrin repeat domain 1</Name>
+            <Symbol>ANKRD1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ALRP</Synonym>
+              <Synonym lang="en">C-193</Synonym>
+              <Synonym lang="en">CARP</Synonym>
+              <Synonym lang="en">CVARP</Synonym>
+              <Synonym lang="en">MCARP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98274">
+                <Source>SwissProt</Source>
+                <Reference>Q15327</Reference>
+              </ExternalReference>
+              <ExternalReference id="98276">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148677</Reference>
+              </ExternalReference>
+              <ExternalReference id="98273">
+                <Source>Genatlas</Source>
+                <Reference>ANKRD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="98271">
+                <Source>HGNC</Source>
+                <Reference>15819</Reference>
+              </ExternalReference>
+              <ExternalReference id="98272">
+                <Source>OMIM</Source>
+                <Reference>609599</Reference>
+              </ExternalReference>
+              <ExternalReference id="98275">
+                <Source>Reactome</Source>
+                <Reference>Q15327</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24505">
+                <GeneLocus>10q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24846508[PMID]</SourceOfValidation>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
+              </ExternalReference>
+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
+              </ExternalReference>
+              <ExternalReference id="30962">
+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
+              </ExternalReference>
+              <ExternalReference id="30961">
+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
+              </ExternalReference>
+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
+              </ExternalReference>
+              <ExternalReference id="33429">
+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9141">
+                <GeneLocus>1q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30993396[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
+              </ExternalReference>
+              <ExternalReference id="28695">
+                <Source>Genatlas</Source>
+                <Reference>DSP</Reference>
+              </ExternalReference>
+              <ExternalReference id="28693">
+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
+              </ExternalReference>
+              <ExternalReference id="28692">
+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
+              </ExternalReference>
+              <ExternalReference id="59099">
+                <Source>Reactome</Source>
+                <Reference>P15924</Reference>
+              </ExternalReference>
+              <ExternalReference id="32906">
+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8255">
+                <GeneLocus>6p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30217752[PMID]</SourceOfValidation>
+          <Gene id="24586">
+            <Name lang="en">heart and neural crest derivatives expressed 2</Name>
+            <Symbol>HAND2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Hed</Synonym>
+              <Synonym lang="en">Thing2</Synonym>
+              <Synonym lang="en">bHLHa26</Synonym>
+              <Synonym lang="en">dHand</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="144109">
+                <Source>Genatlas</Source>
+                <Reference>HAND2</Reference>
+              </ExternalReference>
+              <ExternalReference id="131403">
+                <Source>HGNC</Source>
+                <Reference>4808</Reference>
+              </ExternalReference>
+              <ExternalReference id="133489">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164107</Reference>
+              </ExternalReference>
+              <ExternalReference id="132861">
+                <Source>SwissProt</Source>
+                <Reference>P61296</Reference>
+              </ExternalReference>
+              <ExternalReference id="132139">
+                <Source>OMIM</Source>
+                <Reference>602407</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39661">
+                <GeneLocus>4q34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35044787[PMID]</SourceOfValidation>
+          <Gene id="31454">
+            <Name lang="en">BAG cochaperone 5</Name>
+            <Symbol>BAG5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="205798">
+                <Source>HGNC</Source>
+                <Reference>941</Reference>
+              </ExternalReference>
+              <ExternalReference id="207661">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166170</Reference>
+              </ExternalReference>
+              <ExternalReference id="207662">
+                <Source>OMIM</Source>
+                <Reference>603885</Reference>
+              </ExternalReference>
+              <ExternalReference id="207663">
+                <Source>SwissProt</Source>
+                <Reference>Q9UL15</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88423">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="634">
+      <OrphaCode>84</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=84</ExpertLink>
+      <Name lang="en">Fanconi anemia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="22">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26681308[PMID]</SourceOfValidation>
+          <Gene id="15183">
+            <Name lang="en">RAD51 recombinase</Name>
+            <Symbol>RAD51</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 5</Synonym>
+              <Synonym lang="en">BRCC5</Synonym>
+              <Synonym lang="en">FANCR</Synonym>
+              <Synonym lang="en">HsRad51</Synonym>
+              <Synonym lang="en">HsT16930</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58596">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000051180</Reference>
+              </ExternalReference>
+              <ExternalReference id="37325">
+                <Source>Genatlas</Source>
+                <Reference>RAD51</Reference>
+              </ExternalReference>
+              <ExternalReference id="25305">
+                <Source>HGNC</Source>
+                <Reference>9817</Reference>
+              </ExternalReference>
+              <ExternalReference id="25304">
+                <Source>OMIM</Source>
+                <Reference>179617</Reference>
+              </ExternalReference>
+              <ExternalReference id="58597">
+                <Source>Reactome</Source>
+                <Reference>Q06609</Reference>
+              </ExternalReference>
+              <ExternalReference id="33707">
+                <Source>SwissProt</Source>
+                <Reference>Q06609</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              <Locus id="6933">
+                <GeneLocus>15q15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27500492[PMID]</SourceOfValidation>
+          <Gene id="25126">
+            <Name lang="en">mitotic arrest deficient 2 like 2</Name>
+            <Symbol>MAD2L2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FANCV</Synonym>
+              <Synonym lang="en">MAD2B</Synonym>
+              <Synonym lang="en">POLZ2</Synonym>
+              <Synonym lang="en">REV7</Synonym>
+              <Synonym lang="en">mitotic arrest deficient homolog-like 2</Synonym>
+              <Synonym lang="en">polymerase (DNA-directed), zeta 2, accessory subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135178">
+                <Source>HGNC</Source>
+                <Reference>6764</Reference>
+              </ExternalReference>
+              <ExternalReference id="135179">
+                <Source>OMIM</Source>
+                <Reference>604094</Reference>
+              </ExternalReference>
+              <ExternalReference id="135180">
+                <Source>Genatlas</Source>
+                <Reference>MAD2L2</Reference>
+              </ExternalReference>
+              <ExternalReference id="135181">
+                <Source>SwissProt</Source>
+                <Reference>Q9UI95</Reference>
+              </ExternalReference>
+              <ExternalReference id="135182">
+                <Source>Reactome</Source>
+                <Reference>Q9UI95</Reference>
+              </ExternalReference>
+              <ExternalReference id="135183">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116670</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="36119">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29133208[PMID]</SourceOfValidation>
+          <Gene id="15377">
+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 1</Synonym>
+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
+              </ExternalReference>
+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
+              </ExternalReference>
+              <ExternalReference id="26226">
+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
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+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
+              <ExternalReference id="33934">
+                <Source>SwissProt</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22232082[PMID]_27208205[PMID]</SourceOfValidation>
+          <Gene id="21095">
+            <Name lang="en">X-ray repair cross complementing 2</Name>
+            <Symbol>XRCC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FANCU</Synonym>
+              <Synonym lang="en">RAD51-like</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="61883">
+                <Source>HGNC</Source>
+                <Reference>12829</Reference>
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+              <ExternalReference id="61884">
+                <Source>OMIM</Source>
+                <Reference>600375</Reference>
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+              <ExternalReference id="97323">
+                <Source>Reactome</Source>
+                <Reference>O43543</Reference>
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+              <ExternalReference id="61886">
+                <Source>SwissProt</Source>
+                <Reference>O43543</Reference>
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+              <ExternalReference id="83365">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196584</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28691929[PMID]</SourceOfValidation>
+          <Gene id="25903">
+            <Name lang="en">ring finger and WD repeat domain 3</Name>
+            <Symbol>RFWD3</Symbol>
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+              <Synonym lang="en">FANCW</Synonym>
+              <Synonym lang="en">FLJ10520</Synonym>
+              <Synonym lang="en">RNF201</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="150494">
+                <Source>OMIM</Source>
+                <Reference>614151</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RFWD3</Reference>
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+              <ExternalReference id="150496">
+                <Source>Reactome</Source>
+                <Reference>Q6PCD5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25539</Reference>
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+              <ExternalReference id="150492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168411</Reference>
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+              <ExternalReference id="150493">
+                <Source>SwissProt</Source>
+                <Reference>Q6PCD5</Reference>
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+                <GeneLocus>16q23.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33935">
+                <Source>SwissProt</Source>
+                <Reference>P51587</Reference>
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+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+              <ExternalReference id="26233">
+                <Source>Genatlas</Source>
+                <Reference>BRCA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51587</Reference>
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+                <GeneLocus>13q13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="15379">
+            <Name lang="en">BRCA1 interacting helicase 1</Name>
+            <Symbol>BRIP1</Symbol>
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+              <Synonym lang="en">BRCA1 interacting protein 1</Synonym>
+              <Synonym lang="en">BRCA1-associated C-terminal helicase</Synonym>
+              <Synonym lang="en">BRCA1/BRCA2-associated helicase 1</Synonym>
+              <Synonym lang="en">FANCJ</Synonym>
+              <Synonym lang="en">FANCJ helicase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57413">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136492</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20473</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57414">
+                <Source>Reactome</Source>
+                <Reference>Q9BX63</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23623386[PMID]</SourceOfValidation>
+          <Gene id="15990">
+            <Name lang="en">ERCC excision repair 4, endonuclease catalytic subunit</Name>
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+              <Synonym lang="en">xeroderma pigmentosum, complementation group F</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60538">
+                <Source>Reactome</Source>
+                <Reference>Q92889</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92889</Reference>
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+              <ExternalReference id="60537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175595</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
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+            <Name lang="en">FA complementation group A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187741</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3582</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
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+              <Synonym lang="en">FAAP95</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57424">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">X-ray repair, complementing defective, in Chinese hamster, 9</Synonym>
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+                <Reference>602956</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15287</Reference>
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+                <Reference>O15287</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="16027">
+            <Name lang="en">FA complementation group L</Name>
+            <Symbol>FANCL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAAP43</Synonym>
+              <Synonym lang="en">FLJ10335</Synonym>
+              <Synonym lang="en">Pog</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>20748</Reference>
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+                <Reference>608111</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NW38</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NW38</Reference>
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+              <ExternalReference id="57433">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115392</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="16028">
+            <Name lang="en">FA complementation group M</Name>
+            <Symbol>FANCM</Symbol>
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+              <Synonym lang="en">FAAP250</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000187790</Reference>
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+              <ExternalReference id="29345">
+                <Source>HGNC</Source>
+                <Reference>23168</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609644</Reference>
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+              <ExternalReference id="57436">
+                <Source>Reactome</Source>
+                <Reference>Q8IYD8</Reference>
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+                <Reference>Q8IYD8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="16788">
+            <Name lang="en">FA complementation group I</Name>
+            <Symbol>FANCI</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ10719</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>25568</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611360</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NVI1</Reference>
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+              <ExternalReference id="34940">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVI1</Reference>
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+              <ExternalReference id="57431">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140525</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
+          <Gene id="16873">
+            <Name lang="en">partner and localizer of BRCA2</Name>
+            <Symbol>PALB2</Symbol>
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+              <Synonym lang="en">FANCN</Synonym>
+              <Synonym lang="en">FLJ21816</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group N</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57437">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083093</Reference>
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+              <ExternalReference id="35321">
+                <Source>Genatlas</Source>
+                <Reference>PALB2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26144</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610355</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86YC2</Reference>
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+                <Reference>Q86YC2</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301575[PMID]</SourceOfValidation>
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+            <Name lang="en">RAD51 paralog C</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O43502</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">SLX4 structure-specific endonuclease subunit</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">LIM domain binding 3</Name>
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+            <Name lang="en">actinin alpha 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
+                <Reference>P68032</Reference>
+              </ExternalReference>
+              <ExternalReference id="32354">
+                <Source>SwissProt</Source>
+                <Reference>P68032</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]</SourceOfValidation>
+          <Gene id="16501">
+            <Name lang="en">myosin heavy chain 7</Name>
+            <Symbol>MYH7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1S</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31591">
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+                <Reference>160760</Reference>
+              </ExternalReference>
+              <ExternalReference id="83007">
+                <Source>Reactome</Source>
+                <Reference>P12883</Reference>
+              </ExternalReference>
+              <ExternalReference id="33566">
+                <Source>SwissProt</Source>
+                <Reference>P12883</Reference>
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+              <ExternalReference id="57466">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092054</Reference>
+              </ExternalReference>
+              <ExternalReference id="31594">
+                <Source>Genatlas</Source>
+                <Reference>MYH7</Reference>
+              </ExternalReference>
+              <ExternalReference id="31592">
+                <Source>HGNC</Source>
+                <Reference>7577</Reference>
+              </ExternalReference>
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+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9241277[PMID]_20301725[PMID]</SourceOfValidation>
+          <Gene id="15638">
+            <Name lang="en">troponin I3, cardiac type</Name>
+            <Symbol>TNNI3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMH7</Synonym>
+              <Synonym lang="en">TNNC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129991</Reference>
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+              <ExternalReference id="27487">
+                <Source>Genatlas</Source>
+                <Reference>TNNI3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27489">
+                <Source>HGNC</Source>
+                <Reference>11947</Reference>
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+              <ExternalReference id="27488">
+                <Source>OMIM</Source>
+                <Reference>191044</Reference>
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+              <ExternalReference id="57489">
+                <Source>Reactome</Source>
+                <Reference>P19429</Reference>
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+              <ExternalReference id="32610">
+                <Source>SwissProt</Source>
+                <Reference>P19429</Reference>
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+                <GeneLocus>19q13.42</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14672715[PMID]</SourceOfValidation>
+          <Gene id="15403">
+            <Name lang="en">caveolin 3</Name>
+            <Symbol>CAV3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">LGMD1C</Synonym>
+              <Synonym lang="en">LQT9</Synonym>
+              <Synonym lang="en">M-caveolin</Synonym>
+              <Synonym lang="en">VIP-21</Synonym>
+              <Synonym lang="en">VIP21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000182533</Reference>
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+              <ExternalReference id="26355">
+                <Source>Genatlas</Source>
+                <Reference>CAV3</Reference>
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+              <ExternalReference id="26353">
+                <Source>HGNC</Source>
+                <Reference>1529</Reference>
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+              <ExternalReference id="26352">
+                <Source>OMIM</Source>
+                <Reference>601253</Reference>
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+              <ExternalReference id="97180">
+                <Source>Reactome</Source>
+                <Reference>P56539</Reference>
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+              <ExternalReference id="32371">
+                <Source>SwissProt</Source>
+                <Reference>P56539</Reference>
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+                <GeneLocus>3p25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]_15582318[PMID]</SourceOfValidation>
+          <Gene id="15590">
+            <Name lang="en">titin-cap</Name>
+            <Symbol>TCAP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">19 kDa sarcomeric protein</Synonym>
+              <Synonym lang="en">CMD1N</Synonym>
+              <Synonym lang="en">T-cap</Synonym>
+              <Synonym lang="en">TELE</Synonym>
+              <Synonym lang="en">telethonin</Synonym>
+              <Synonym lang="en">teneurin C-terminal associated peptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57482">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173991</Reference>
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+              <ExternalReference id="27257">
+                <Source>Genatlas</Source>
+                <Reference>TCAP</Reference>
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+              <ExternalReference id="27259">
+                <Source>HGNC</Source>
+                <Reference>11610</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604488</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15273</Reference>
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+              <ExternalReference id="32561">
+                <Source>SwissProt</Source>
+                <Reference>O15273</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]_11136687[PMID]</SourceOfValidation>
+          <Gene id="15647">
+            <Name lang="en">tropomyosin 1</Name>
+            <Symbol>TPM1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140416</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>191010</Reference>
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+              <ExternalReference id="57485">
+                <Source>Reactome</Source>
+                <Reference>P09493</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09493</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]</SourceOfValidation>
+          <Gene id="15640">
+            <Name lang="en">troponin T2, cardiac type</Name>
+            <Symbol>TNNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMPD2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118194</Reference>
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+              <ExternalReference id="27497">
+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">titin</Name>
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+              <Synonym lang="en">MYLK5</Synonym>
+              <Synonym lang="en">TMD</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+              <Synonym lang="en">muscle LIM protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+            <Symbol>MT-ATP6</Symbol>
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+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
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+                <Reference>ENSG00000198899</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          <Gene id="16504">
+            <Name lang="en">myosin light chain 2</Name>
+            <Symbol>MYL2</Symbol>
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+                <Source>Reactome</Source>
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+          <Gene id="16500">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000197616</Reference>
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+                <Reference>7576</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">protein kinase AMP-activated non-catalytic subunit gamma 2</Name>
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+              <Synonym lang="en">AAKG2</Synonym>
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+              <Synonym lang="en">CMH6</Synonym>
+              <Synonym lang="en">H91620p</Synonym>
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+                <Source>Reactome</Source>
+                <Reference>Q9UGJ0</Reference>
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+                <Reference>Q9UGJ0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106617</Reference>
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+              <ExternalReference id="25093">
+                <Source>Genatlas</Source>
+                <Reference>PRKAG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25091">
+                <Source>HGNC</Source>
+                <Reference>9386</Reference>
+              </ExternalReference>
+              <ExternalReference id="82745">
+                <Source>IUPHAR</Source>
+                <Reference>1546</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25139">
+                <GeneLocus>7q36.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]</SourceOfValidation>
+          <Gene id="16505">
+            <Name lang="en">myosin light chain 3</Name>
+            <Symbol>MYL3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMH8</Synonym>
+              <Synonym lang="en">MLC1SB</Synonym>
+              <Synonym lang="en">MLC1V</Synonym>
+              <Synonym lang="en">VLC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57498">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160808</Reference>
+              </ExternalReference>
+              <ExternalReference id="31614">
+                <Source>Genatlas</Source>
+                <Reference>MYL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31612">
+                <Source>HGNC</Source>
+                <Reference>7584</Reference>
+              </ExternalReference>
+              <ExternalReference id="31611">
+                <Source>OMIM</Source>
+                <Reference>160790</Reference>
+              </ExternalReference>
+              <ExternalReference id="57499">
+                <Source>Reactome</Source>
+                <Reference>P08590</Reference>
+              </ExternalReference>
+              <ExternalReference id="33570">
+                <Source>SwissProt</Source>
+                <Reference>P08590</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21889">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11733062[PMID]</SourceOfValidation>
+          <Gene id="16506">
+            <Name lang="en">myosin light chain kinase 2</Name>
+            <Symbol>MYLK2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KMLC</Synonym>
+              <Synonym lang="en">MLCK2</Synonym>
+              <Synonym lang="en">skMLCK</Synonym>
+              <Synonym lang="en">skeletal muscle myosin light chain kinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143826">
+                <Source>Reactome</Source>
+                <Reference>Q9H1R3</Reference>
+              </ExternalReference>
+              <ExternalReference id="57495">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101306</Reference>
+              </ExternalReference>
+              <ExternalReference id="37536">
+                <Source>Genatlas</Source>
+                <Reference>MYLK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31617">
+                <Source>HGNC</Source>
+                <Reference>16243</Reference>
+              </ExternalReference>
+              <ExternalReference id="83008">
+                <Source>IUPHAR</Source>
+                <Reference>1553</Reference>
+              </ExternalReference>
+              <ExternalReference id="31616">
+                <Source>OMIM</Source>
+                <Reference>606566</Reference>
+              </ExternalReference>
+              <ExternalReference id="33571">
+                <Source>SwissProt</Source>
+                <Reference>Q9H1R3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39115">
+                <GeneLocus>20q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22523091[PMID]</SourceOfValidation>
+          <Gene id="16936">
+            <Name lang="en">four and a half LIM domains 1</Name>
+            <Symbol>FHL1</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">FHL1B</Synonym>
+              <Synonym lang="en">FLH1A</Synonym>
+              <Synonym lang="en">Four-and-a-half LIM domains 1</Synonym>
+              <Synonym lang="en">KYO-T</Synonym>
+              <Synonym lang="en">LIM protein SLIMMER</Synonym>
+              <Synonym lang="en">MGC111107</Synonym>
+              <Synonym lang="en">SLIM1</Synonym>
+              <Synonym lang="en">XMPMA</Synonym>
+              <Synonym lang="en">bA535K18.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59448">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000022267</Reference>
+              </ExternalReference>
+              <ExternalReference id="35780">
+                <Source>Genatlas</Source>
+                <Reference>FHL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35778">
+                <Source>HGNC</Source>
+                <Reference>3702</Reference>
+              </ExternalReference>
+              <ExternalReference id="35781">
+                <Source>OMIM</Source>
+                <Reference>300163</Reference>
+              </ExternalReference>
+              <ExternalReference id="35779">
+                <Source>SwissProt</Source>
+                <Reference>Q13642</Reference>
+              </ExternalReference>
+              <ExternalReference id="143156">
+                <Source>Reactome</Source>
+                <Reference>Q13642</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38027">
+                <GeneLocus>Xq26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]</SourceOfValidation>
+          <Gene id="17257">
+            <Name lang="en">troponin C1, slow skeletal and cardiac type</Name>
+            <Symbol>TNNC1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57486">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114854</Reference>
+              </ExternalReference>
+              <ExternalReference id="36466">
+                <Source>Genatlas</Source>
+                <Reference>TNNC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36468">
+                <Source>HGNC</Source>
+                <Reference>11943</Reference>
+              </ExternalReference>
+              <ExternalReference id="36467">
+                <Source>OMIM</Source>
+                <Reference>191040</Reference>
+              </ExternalReference>
+              <ExternalReference id="57487">
+                <Source>Reactome</Source>
+                <Reference>P63316</Reference>
+              </ExternalReference>
+              <ExternalReference id="36469">
+                <Source>SwissProt</Source>
+                <Reference>P63316</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9939">
+                <GeneLocus>3p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16712796[PMID]</SourceOfValidation>
+          <Gene id="17263">
+            <Name lang="en">vinculin</Name>
+            <Symbol>VCL</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Metavinculin</Synonym>
+              <Synonym lang="en">metavinculin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000035403</Reference>
+              </ExternalReference>
+              <ExternalReference id="36501">
+                <Source>Genatlas</Source>
+                <Reference>VCL</Reference>
+              </ExternalReference>
+              <ExternalReference id="36500">
+                <Source>HGNC</Source>
+                <Reference>12665</Reference>
+              </ExternalReference>
+              <ExternalReference id="36502">
+                <Source>OMIM</Source>
+                <Reference>193065</Reference>
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+              <ExternalReference id="57493">
+                <Source>Reactome</Source>
+                <Reference>P18206</Reference>
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+              <ExternalReference id="36503">
+                <Source>SwissProt</Source>
+                <Reference>P18206</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25331">
+                <GeneLocus>10q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8889580[PMID]</SourceOfValidation>
+          <Gene id="17472">
+            <Name lang="en">mitochondrially encoded tRNA-Ile (AUU/C)</Name>
+            <Symbol>MT-TI</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnI</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="83099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210100</Reference>
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+              <ExternalReference id="38236">
+                <Source>Genatlas</Source>
+                <Reference>MT-TI</Reference>
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+              <ExternalReference id="38237">
+                <Source>HGNC</Source>
+                <Reference>7488</Reference>
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+              <ExternalReference id="40480">
+                <Source>OMIM</Source>
+                <Reference>590045</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10269">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]</SourceOfValidation>
+          <Gene id="17480">
+            <Name lang="en">phospholamban</Name>
+            <Symbol>PLN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1P</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198523</Reference>
+              </ExternalReference>
+              <ExternalReference id="38274">
+                <Source>Genatlas</Source>
+                <Reference>PLN</Reference>
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+              <ExternalReference id="38276">
+                <Source>HGNC</Source>
+                <Reference>9080</Reference>
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+              <ExternalReference id="38277">
+                <Source>OMIM</Source>
+                <Reference>172405</Reference>
+              </ExternalReference>
+              <ExternalReference id="97264">
+                <Source>Reactome</Source>
+                <Reference>P26678</Reference>
+              </ExternalReference>
+              <ExternalReference id="38275">
+                <Source>SwissProt</Source>
+                <Reference>P26678</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21459">
+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11038324[PMID]</SourceOfValidation>
+          <Gene id="17671">
+            <Name lang="en">mitochondrially encoded tRNA-His (CAU/C)</Name>
+            <Symbol>MT-TH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnH</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="83109">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210176</Reference>
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+              <ExternalReference id="98046">
+                <Source>Genatlas</Source>
+                <Reference>TRNH</Reference>
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+              <ExternalReference id="38847">
+                <Source>HGNC</Source>
+                <Reference>7487</Reference>
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+              <ExternalReference id="38848">
+                <Source>OMIM</Source>
+                <Reference>590040</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8079988[PMID]</SourceOfValidation>
+          <Gene id="18360">
+            <Name lang="en">mitochondrially encoded tRNA-Gly (GGN)</Name>
+            <Symbol>MT-TG</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnG</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="83135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210164</Reference>
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+              <ExternalReference id="41755">
+                <Source>Genatlas</Source>
+                <Reference>MT-TG</Reference>
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+              <ExternalReference id="41756">
+                <Source>HGNC</Source>
+                <Reference>7486</Reference>
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+              <ExternalReference id="41757">
+                <Source>OMIM</Source>
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+                <GeneLocus>mitochondria</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]_20970104[PMID]</SourceOfValidation>
+          <Gene id="18986">
+            <Name lang="en">nexilin F-actin binding protein</Name>
+            <Symbol>NEXN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NELIN</Synonym>
+              <Synonym lang="en">nexilin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57467">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162614</Reference>
+              </ExternalReference>
+              <ExternalReference id="44527">
+                <Source>Genatlas</Source>
+                <Reference>NEXN</Reference>
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+              <ExternalReference id="44528">
+                <Source>HGNC</Source>
+                <Reference>29557</Reference>
+              </ExternalReference>
+              <ExternalReference id="44529">
+                <Source>OMIM</Source>
+                <Reference>613121</Reference>
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+              <ExternalReference id="44530">
+                <Source>SwissProt</Source>
+                <Reference>Q0ZGT2</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]_17347475[PMID]</SourceOfValidation>
+          <Gene id="20096">
+            <Name lang="en">myozenin 2</Name>
+            <Symbol>MYOZ2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CS-1</Synonym>
+              <Synonym lang="en">FATZ-2</Synonym>
+              <Synonym lang="en">calsarcin-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57506">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172399</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYOZ2</Reference>
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+              <ExternalReference id="51283">
+                <Source>HGNC</Source>
+                <Reference>1330</Reference>
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+              <ExternalReference id="51284">
+                <Source>OMIM</Source>
+                <Reference>605602</Reference>
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+              <ExternalReference id="51286">
+                <Source>SwissProt</Source>
+                <Reference>Q9NPC6</Reference>
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+              <ExternalReference id="142863">
+                <Source>Reactome</Source>
+                <Reference>Q9NPC6</Reference>
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+                <GeneLocus>4q26</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17509612[PMID]_17476457[PMID]</SourceOfValidation>
+          <Gene id="20097">
+            <Name lang="en">junctophilin 2</Name>
+            <Symbol>JPH2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JP-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Reference>JPH2</Reference>
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+              <ExternalReference id="51293">
+                <Source>HGNC</Source>
+                <Reference>14202</Reference>
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+              <ExternalReference id="51294">
+                <Source>OMIM</Source>
+                <Reference>605267</Reference>
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+              <ExternalReference id="51296">
+                <Source>SwissProt</Source>
+                <Reference>Q9BR39</Reference>
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+              <ExternalReference id="57505">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149596</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14517">
+                <GeneLocus>20q13.12</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17655857[PMID]</SourceOfValidation>
+          <Gene id="20099">
+            <Name lang="en">calreticulin 3</Name>
+            <Symbol>CALR3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CRT2</Synonym>
+              <Synonym lang="en">CT93</Synonym>
+              <Synonym lang="en">FLJ25355</Synonym>
+              <Synonym lang="en">MGC26577</Synonym>
+              <Synonym lang="en">calsperin</Synonym>
+              <Synonym lang="en">cancer/testis antigen 93</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82674">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269058</Reference>
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+              <ExternalReference id="51301">
+                <Source>Genatlas</Source>
+                <Reference>CALR3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20407</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611414</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96L12</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22286171[PMID]</SourceOfValidation>
+          <Gene id="21896">
+            <Name lang="en">myopalladin</Name>
+            <Symbol>MYPN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'sarcomeric protein myopalladin, 145 kDa'</Synonym>
+              <Synonym lang="en">MYOP</Synonym>
+              <Synonym lang="en">Sarcomeric protein myopalladin, 145 kDa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138347</Reference>
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+              <ExternalReference id="77808">
+                <Source>Genatlas</Source>
+                <Reference>MYPN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23246</Reference>
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+                <Reference>608517</Reference>
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+              <ExternalReference id="77809">
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+                <Reference>Q86TC9</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24367055[PMID]</SourceOfValidation>
+          <Gene id="22798">
+            <Name lang="en">mitochondrially encoded 16S rRNA</Name>
+            <Symbol>MT-RNR2</Symbol>
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+              <Synonym lang="en">16S</Synonym>
+              <Synonym lang="en">HN</Synonym>
+              <Synonym lang="en">formyl-humanin</Synonym>
+              <Synonym lang="en">humanin</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+              <ExternalReference id="89583">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210082</Reference>
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+              <ExternalReference id="90155">
+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8IVG9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IVG9</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301725[PMID]_15114369[PMID]</SourceOfValidation>
+          <Gene id="16493">
+            <Name lang="en">myosin binding protein C3</Name>
+            <Symbol>MYBPC3</Symbol>
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+              <Synonym lang="en">MYBP-C</Synonym>
+              <Synonym lang="en">cMyBP-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15487">
+            <Name lang="en">aldehyde dehydrogenase 3 family member A2</Name>
+            <Symbol>ALDH3A2</Symbol>
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+              <Synonym lang="en">FALDH</Synonym>
+              <Synonym lang="en">fatty aldehyde dehydrogenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57399">
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+                <Reference>ENSG00000072210</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <OrphaCode>3320</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3320</ExpertLink>
+      <Name lang="en">Thrombocytopenia-absent radius syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22366785[PMID]</SourceOfValidation>
+          <Gene id="21071">
+            <Name lang="en">RNA binding motif protein 8A</Name>
+            <Symbol>RBM8A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BOV-1A</Synonym>
+              <Synonym lang="en">BOV-1B</Synonym>
+              <Synonym lang="en">BOV-1C</Synonym>
+              <Synonym lang="en">RBM8B</Synonym>
+              <Synonym lang="en">Y14</Synonym>
+              <Synonym lang="en">ZNRP</Synonym>
+              <Synonym lang="en">binder of OVCA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95181">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000265241</Reference>
+              </ExternalReference>
+              <ExternalReference id="61534">
+                <Source>Genatlas</Source>
+                <Reference>RBM8A</Reference>
+              </ExternalReference>
+              <ExternalReference id="61532">
+                <Source>HGNC</Source>
+                <Reference>9905</Reference>
+              </ExternalReference>
+              <ExternalReference id="61533">
+                <Source>OMIM</Source>
+                <Reference>605313</Reference>
+              </ExternalReference>
+              <ExternalReference id="83326">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5S9</Reference>
+              </ExternalReference>
+              <ExternalReference id="61535">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5S9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="14547">
+                <GeneLocus>1q21.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="603">
+      <OrphaCode>887</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=887</ExpertLink>
+      <Name lang="en">VACTERL/VATER association</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19006232[PMID]</SourceOfValidation>
+          <Gene id="16212">
+            <Name lang="en">homeobox D13</Name>
+            <Symbol>HOXD13</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">synpolydactyly</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143880">
+                <Source>Reactome</Source>
+                <Reference>P35453</Reference>
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+              <ExternalReference id="57402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128714</Reference>
+              </ExternalReference>
+              <ExternalReference id="30247">
+                <Source>Genatlas</Source>
+                <Reference>HOXD13</Reference>
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+              <ExternalReference id="30249">
+                <Source>HGNC</Source>
+                <Reference>5136</Reference>
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+              <ExternalReference id="30248">
+                <Source>OMIM</Source>
+                <Reference>142989</Reference>
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+              <ExternalReference id="33276">
+                <Source>SwissProt</Source>
+                <Reference>P35453</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="605">
+      <OrphaCode>909</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=909</ExpertLink>
+      <Name lang="en">Cerebrotendinous xanthomatosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301583[PMID]</SourceOfValidation>
+          <Gene id="15840">
+            <Name lang="en">cytochrome P450 family 27 subfamily A member 1</Name>
+            <Symbol>CYP27A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CP27</Synonym>
+              <Synonym lang="en">CTX</Synonym>
+              <Synonym lang="en">cerebrotendinous xanthomatosis</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193627">
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+              <ExternalReference id="57403">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135929</Reference>
+              </ExternalReference>
+              <ExternalReference id="28442">
+                <Source>Genatlas</Source>
+                <Reference>CYP27A1</Reference>
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+              <ExternalReference id="28440">
+                <Source>HGNC</Source>
+                <Reference>2605</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606530</Reference>
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+              <ExternalReference id="57404">
+                <Source>Reactome</Source>
+                <Reference>Q02318</Reference>
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+              <ExternalReference id="32851">
+                <Source>SwissProt</Source>
+                <Reference>Q02318</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Weaver syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27868325_28229514[PMID]</SourceOfValidation>
+          <Gene id="25357">
+            <Name lang="en">embryonic ectoderm development</Name>
+            <Symbol>EED</Symbol>
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+              <Synonym lang="en">WAIT-1</Synonym>
+              <Synonym lang="en">WD protein associating with integrin cytoplasmic tails 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190745">
+                <Source>IUPHAR</Source>
+                <Reference>2487</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3188</Reference>
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+              <ExternalReference id="142440">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074266</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605984</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75530</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="16577">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165671</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">enhancer of zeste 2 polycomb repressive complex 2 subunit</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106462</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q15022</Reference>
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+                <Reference>18270</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal dominant non-syndromic intellectual disability</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000075043</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">erb-b2 receptor tyrosine kinase 4</Name>
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+              <Synonym lang="en">HER4</Synonym>
+              <Synonym lang="en">human epidermal growth factor receptor 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q15303</Reference>
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+              <ExternalReference id="82387">
+                <Source>SwissProt</Source>
+                <Reference>Q15303</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30879638[PMID]</SourceOfValidation>
+          <Gene id="28200">
+            <Name lang="en">BR serine/threonine kinase 2</Name>
+            <Symbol>BRSK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PEN11B</Synonym>
+              <Synonym lang="en">serine/threonine kinase 29</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>11405</Reference>
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+              <ExternalReference id="170975">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174672</Reference>
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+              <ExternalReference id="189353">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWQ3</Reference>
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+              <ExternalReference id="170977">
+                <Source>Reactome</Source>
+                <Reference>Q8IWQ3</Reference>
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+              <ExternalReference id="170978">
+                <Source>IUPHAR</Source>
+                <Reference>1947</Reference>
+              </ExternalReference>
+              <ExternalReference id="170979">
+                <Source>OMIM</Source>
+                <Reference>609236</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31155615[PMID]</SourceOfValidation>
+          <Gene id="29242">
+            <Name lang="en">mediator complex subunit 12L</Name>
+            <Symbol>MED12L</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA1635</Synonym>
+              <Synonym lang="en">TNRC11L</Synonym>
+              <Synonym lang="en">TRALP</Synonym>
+              <Synonym lang="en">TRALPUSH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
+                <Reference>16050</Reference>
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+              <ExternalReference id="184084">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144893</Reference>
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+              <ExternalReference id="184085">
+                <Source>SwissProt</Source>
+                <Reference>Q86YW9</Reference>
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+              <ExternalReference id="184086">
+                <Source>Reactome</Source>
+                <Reference>Q86YW9</Reference>
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+              <ExternalReference id="184087">
+                <Source>OMIM</Source>
+                <Reference>611318</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="55303">
+                <GeneLocus>3q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34006619[PMID]</SourceOfValidation>
+          <Gene id="23260">
+            <Name lang="en">solute carrier family 6 member 1</Name>
+            <Symbol>SLC6A1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GABA transporter 1</Synonym>
+              <Synonym lang="en">GABATHG</Synonym>
+              <Synonym lang="en">GABATR</Synonym>
+              <Synonym lang="en">GAT1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95821">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157103</Reference>
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+              <ExternalReference id="95818">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A1</Reference>
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+              <ExternalReference id="95816">
+                <Source>HGNC</Source>
+                <Reference>11042</Reference>
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+              <ExternalReference id="95822">
+                <Source>IUPHAR</Source>
+                <Reference>929</Reference>
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+              <ExternalReference id="95817">
+                <Source>OMIM</Source>
+                <Reference>137165</Reference>
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+              <ExternalReference id="95820">
+                <Source>Reactome</Source>
+                <Reference>P30531</Reference>
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+              <ExternalReference id="95819">
+                <Source>SwissProt</Source>
+                <Reference>P30531</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32546566[PMID]</SourceOfValidation>
+          <Gene id="29799">
+            <Name lang="en">SET domain containing 1B, histone lysine methyltransferase</Name>
+            <Symbol>SETD1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1076</Synonym>
+              <Synonym lang="en">KMT2G</Synonym>
+              <Synonym lang="en">Set1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="188016">
+                <Source>HGNC</Source>
+                <Reference>29187</Reference>
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+              <ExternalReference id="188017">
+                <Source>OMIM</Source>
+                <Reference>611055</Reference>
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+              <ExternalReference id="188020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139718</Reference>
+              </ExternalReference>
+              <ExternalReference id="188021">
+                <Source>IUPHAR</Source>
+                <Reference>2701</Reference>
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+              <ExternalReference id="188018">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPS6</Reference>
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+              <ExternalReference id="188019">
+                <Source>Reactome</Source>
+                <Reference>Q9UPS6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="57007">
+                <GeneLocus>12q24.31</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
+          <Gene id="21870">
+            <Name lang="en">clathrin heavy chain</Name>
+            <Symbol>CLTC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hc</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83669">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141367</Reference>
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+              <ExternalReference id="77115">
+                <Source>Genatlas</Source>
+                <Reference>CLTC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2092</Reference>
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+              <ExternalReference id="77114">
+                <Source>OMIM</Source>
+                <Reference>118955</Reference>
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+              <ExternalReference id="83668">
+                <Source>Reactome</Source>
+                <Reference>Q00610</Reference>
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+              <ExternalReference id="77116">
+                <Source>SwissProt</Source>
+                <Reference>Q00610</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12381">
+                <GeneLocus>17q23.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34707297[PMID]</SourceOfValidation>
+          <Gene id="28565">
+            <Name lang="en">intersectin 1</Name>
+            <Symbol>ITSN1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">MGC134948</Synonym>
+              <Synonym lang="en">MGC134949</Synonym>
+              <Synonym lang="en">SH3 domain protein-1A</Synonym>
+              <Synonym lang="en">SH3P17</Synonym>
+              <Synonym lang="en">Src homology 3 domain-containing protein</Synonym>
+              <Synonym lang="en">human intersectin-SH3 domain-containing protein SH3P17</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="178468">
+                <Source>HGNC</Source>
+                <Reference>6183</Reference>
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+              <ExternalReference id="178469">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205726</Reference>
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+              <ExternalReference id="178470">
+                <Source>SwissProt</Source>
+                <Reference>Q15811</Reference>
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+              <ExternalReference id="178471">
+                <Source>Reactome</Source>
+                <Reference>Q15811</Reference>
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+              <ExternalReference id="178472">
+                <Source>OMIM</Source>
+                <Reference>602442</Reference>
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+              <Locus id="53369">
+                <GeneLocus>21q22.11</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34092786[PMID]</SourceOfValidation>
+          <Gene id="22910">
+            <Name lang="en">prickle planar cell polarity protein 2</Name>
+            <Symbol>PRICKLE2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp686D143</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="91634">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163637</Reference>
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+              <ExternalReference id="90455">
+                <Source>Genatlas</Source>
+                <Reference>PRICKLE2</Reference>
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+              <ExternalReference id="90453">
+                <Source>HGNC</Source>
+                <Reference>20340</Reference>
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+              <ExternalReference id="90454">
+                <Source>OMIM</Source>
+                <Reference>608501</Reference>
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+              <ExternalReference id="90456">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3G6</Reference>
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+              <Locus id="25949">
+                <GeneLocus>3p14.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26340335[PMID]</SourceOfValidation>
+          <Gene id="23807">
+            <Name lang="en">chromosome alignment maintaining phosphoprotein 1</Name>
+            <Symbol>CHAMP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAMP</Synonym>
+              <Synonym lang="en">CHAMP</Synonym>
+              <Synonym lang="en">chromosome alignment-maintaining phosphoprotein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="103476">
+                <Source>HGNC</Source>
+                <Reference>20311</Reference>
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+              <ExternalReference id="103477">
+                <Source>OMIM</Source>
+                <Reference>616327</Reference>
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+              <ExternalReference id="103478">
+                <Source>Genatlas</Source>
+                <Reference>CHAMP1</Reference>
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+              <ExternalReference id="103479">
+                <Source>SwissProt</Source>
+                <Reference>Q96JM3</Reference>
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+              <ExternalReference id="103480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198824</Reference>
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+              <ExternalReference id="143315">
+                <Source>Reactome</Source>
+                <Reference>Q96JM3</Reference>
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+                <GeneLocus>13q34</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26153216[PMID]_27003583[PMID]</SourceOfValidation>
+          <Gene id="24600">
+            <Name lang="en">HIVEP zinc finger 2</Name>
+            <Symbol>HIVEP2</Symbol>
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+              <Synonym lang="en">HIV-EP2</Synonym>
+              <Synonym lang="en">MBP-2</Synonym>
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+              <Synonym lang="en">Schnurri-2</Synonym>
+              <Synonym lang="en">ZAS2</Synonym>
+              <Synonym lang="en">ZNF40B</Synonym>
+              <Synonym lang="en">c-myc intron binding protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="131417">
+                <Source>HGNC</Source>
+                <Reference>4921</Reference>
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+              <ExternalReference id="142981">
+                <Source>Genatlas</Source>
+                <Reference>HIVEP2</Reference>
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+              <ExternalReference id="133476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010818</Reference>
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+              <ExternalReference id="132875">
+                <Source>SwissProt</Source>
+                <Reference>P31629</Reference>
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+              <ExternalReference id="132152">
+                <Source>OMIM</Source>
+                <Reference>143054</Reference>
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+              <Locus id="37679">
+                <GeneLocus>6q24.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24307393[PMID]</SourceOfValidation>
+          <Gene id="24643">
+            <Name lang="en">lysine demethylase 5B</Name>
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+              <Synonym lang="en">CT31</Synonym>
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+              <Synonym lang="en">cancer/testis antigen 31</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 98</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>605393</Reference>
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+              <ExternalReference id="133403">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117139</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UGL1</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2681</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UGL1</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KDM5B</Reference>
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+                <GeneLocus>1q32.1</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21990140[PMID]</SourceOfValidation>
+          <Gene id="24732">
+            <Name lang="en">myelin transcription factor 1 like</Name>
+            <Symbol>MYT1L</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA1106</Synonym>
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+              <Synonym lang="en">neural zinc finger transcription factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>613084</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7623</Reference>
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+              <ExternalReference id="133503">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186487</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UL68</Reference>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29688601[PMID]</SourceOfValidation>
+          <Gene id="25729">
+            <Name lang="en">SET nuclear proto-oncogene</Name>
+            <Symbol>SET</Symbol>
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+              <Synonym lang="en">HLA-DR-associated protein II</Synonym>
+              <Synonym lang="en">IGAAD</Synonym>
+              <Synonym lang="en">IPP2A2</Synonym>
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+              <Synonym lang="en">TAF-I</Synonym>
+              <Synonym lang="en">TAF-IBETA</Synonym>
+              <Synonym lang="en">Template-Activating Factor-I</Synonym>
+              <Synonym lang="en">Template-Activating Factor-I, chromatin remodelling factor</Synonym>
+              <Synonym lang="en">chromatin remodelling factor</Synonym>
+              <Synonym lang="en">inhibitor of granzyme A-activated DNase</Synonym>
+              <Synonym lang="en">protein phosphatase type 2A inhibitor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34346499[PMID]</SourceOfValidation>
+          <Gene id="31531">
+            <Name lang="en">ADP ribosylation factor 3</Name>
+            <Symbol>ARF3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33704440[PMID]</SourceOfValidation>
+          <Gene id="30711">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 I</Name>
+            <Symbol>CACNA1I</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">RAB11A, member RAS oncogene family</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+          <SourceOfValidation>28942967[PMID]</SourceOfValidation>
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+              <Synonym lang="en">protein phosphatase 2B, catalytic subunit, alpha isoform</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NFP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="183631">
+                <Source>Reactome</Source>
+                <Reference>Q8NFP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="183632">
+                <Source>OMIM</Source>
+                <Reference>604889</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="55103">
+                <GeneLocus>13q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28288114[PMID]</SourceOfValidation>
+          <Gene id="25512">
+            <Name lang="en">capicua transcriptional repressor</Name>
+            <Symbol>CIC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0306</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144762">
+                <Source>HGNC</Source>
+                <Reference>14214</Reference>
+              </ExternalReference>
+              <ExternalReference id="144763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079432</Reference>
+              </ExternalReference>
+              <ExternalReference id="144764">
+                <Source>SwissProt</Source>
+                <Reference>Q96RK0</Reference>
+              </ExternalReference>
+              <ExternalReference id="144765">
+                <Source>OMIM</Source>
+                <Reference>612082</Reference>
+              </ExternalReference>
+              <ExternalReference id="144766">
+                <Source>Genatlas</Source>
+                <Reference>CIC</Reference>
+              </ExternalReference>
+              <ExternalReference id="144767">
+                <Source>Reactome</Source>
+                <Reference>Q96RK0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40417">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28585349[PMID]</SourceOfValidation>
+          <Gene id="25556">
+            <Name lang="en">casein kinase 2 beta</Name>
+            <Symbol>CSNK2B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Ckb1</Synonym>
+              <Synonym lang="en">Ckb2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="145749">
+                <Source>HGNC</Source>
+                <Reference>2460</Reference>
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+              <ExternalReference id="145750">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204435</Reference>
+              </ExternalReference>
+              <ExternalReference id="145751">
+                <Source>SwissProt</Source>
+                <Reference>P67870</Reference>
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+              <ExternalReference id="145752">
+                <Source>OMIM</Source>
+                <Reference>115441</Reference>
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+              <ExternalReference id="145753">
+                <Source>Genatlas</Source>
+                <Reference>CSNK2B</Reference>
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+              <ExternalReference id="145754">
+                <Source>Reactome</Source>
+                <Reference>P67870</Reference>
+              </ExternalReference>
+              <ExternalReference id="147462">
+                <Source>IUPHAR</Source>
+                <Reference>1551</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="42253">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23033978[PMID]_28394464[PMID]</SourceOfValidation>
+          <Gene id="25628">
+            <Name lang="en">ASH1 like histone lysine methyltransferase</Name>
+            <Symbol>ASH1L</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ASH1</Synonym>
+              <Synonym lang="en">ASH1L1</Synonym>
+              <Synonym lang="en">KMT2H</Synonym>
+              <Synonym lang="en">huASH1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="146387">
+                <Source>HGNC</Source>
+                <Reference>19088</Reference>
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+              <ExternalReference id="146388">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116539</Reference>
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+              <ExternalReference id="146389">
+                <Source>SwissProt</Source>
+                <Reference>Q9NR48</Reference>
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+              <ExternalReference id="146390">
+                <Source>OMIM</Source>
+                <Reference>607999</Reference>
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+              <ExternalReference id="146391">
+                <Source>Genatlas</Source>
+                <Reference>ASH1L</Reference>
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+              <ExternalReference id="146392">
+                <Source>Reactome</Source>
+                <Reference>Q9NR48</Reference>
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+              <ExternalReference id="190714">
+                <Source>IUPHAR</Source>
+                <Reference>2648</Reference>
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+              <Locus id="60837">
+                <GeneLocus>1q22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30014507[PMID]</SourceOfValidation>
+          <Gene id="24446">
+            <Name lang="en">cut like homeobox 1</Name>
+            <Symbol>CUX1</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">CASP</Synonym>
+              <Synonym lang="en">CDP</Synonym>
+              <Synonym lang="en">CDP/Cut</Synonym>
+              <Synonym lang="en">CDP/Cux</Synonym>
+              <Synonym lang="en">CDP1</Synonym>
+              <Synonym lang="en">CUT</Synonym>
+              <Synonym lang="en">CUX</Synonym>
+              <Synonym lang="en">CUX1 gene Alternatively Spliced Product</Synonym>
+              <Synonym lang="en">Clox</Synonym>
+              <Synonym lang="en">Cux/CDP</Synonym>
+              <Synonym lang="en">GOLIM6</Synonym>
+              <Synonym lang="en">golgi integral membrane protein 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144098">
+                <Source>Genatlas</Source>
+                <Reference>CUX1</Reference>
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+              <ExternalReference id="131263">
+                <Source>HGNC</Source>
+                <Reference>2557</Reference>
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+              <ExternalReference id="132006">
+                <Source>OMIM</Source>
+                <Reference>116896</Reference>
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+              <ExternalReference id="134642">
+                <Source>SwissProt</Source>
+                <Reference>P39880</Reference>
+              </ExternalReference>
+              <ExternalReference id="134643">
+                <Source>Reactome</Source>
+                <Reference>P39880</Reference>
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+              <ExternalReference id="133389">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000257923</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39647">
+                <GeneLocus>7q22.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22670824[PMID]</SourceOfValidation>
+          <Gene id="17229">
+            <Name lang="en">transcription factor 4</Name>
+            <Symbol>TCF4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">E2-2</Synonym>
+              <Synonym lang="en">ITF2</Synonym>
+              <Synonym lang="en">SEF2-1B</Synonym>
+              <Synonym lang="en">SL3-3 enhancer factor 2</Synonym>
+              <Synonym lang="en">bHLHb19</Synonym>
+              <Synonym lang="en">class B basic helix-loop-helix protein 19</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196628</Reference>
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+              <ExternalReference id="36407">
+                <Source>Genatlas</Source>
+                <Reference>TCF4</Reference>
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+              <ExternalReference id="36409">
+                <Source>HGNC</Source>
+                <Reference>11634</Reference>
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+              <ExternalReference id="36408">
+                <Source>OMIM</Source>
+                <Reference>602272</Reference>
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+              <ExternalReference id="58168">
+                <Source>Reactome</Source>
+                <Reference>P15884</Reference>
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+              <ExternalReference id="36410">
+                <Source>SwissProt</Source>
+                <Reference>P15884</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>18q21.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23161826[PMID]</SourceOfValidation>
+          <Gene id="18361">
+            <Name lang="en">synaptic Ras GTPase activating protein 1</Name>
+            <Symbol>SYNGAP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1938</Synonym>
+              <Synonym lang="en">RASA5</Synonym>
+              <Synonym lang="en">SYNGAP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197283</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11497</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97278">
+                <Source>Reactome</Source>
+                <Reference>Q96PV0</Reference>
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+                <Source>SwissProt</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19012874[PMID]</SourceOfValidation>
+          <Gene id="18419">
+            <Name lang="en">kirre like nephrin family adhesion molecule 3</Name>
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+              <Synonym lang="en">KIAA1867</Synonym>
+              <Synonym lang="en">KIRRE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60252">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149571</Reference>
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+              <ExternalReference id="41984">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>23204</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8IZU9</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18060736[PMID]</SourceOfValidation>
+          <Gene id="18927">
+            <Name lang="en">dedicator of cytokinesis 8</Name>
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+              <Synonym lang="en">FLJ00026</Synonym>
+              <Synonym lang="en">FLJ00152</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60217">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107099</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21376300[PMID]</SourceOfValidation>
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+            <Name lang="en">kinesin family member 1A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130294</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>888</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21376300[PMID]</SourceOfValidation>
+          <Gene id="20558">
+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 1</Name>
+            <Symbol>GRIN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GluN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>22368300[PMID]</SourceOfValidation>
+          <Gene id="20586">
+            <Name lang="en">dynein cytoplasmic 1 heavy chain 1</Name>
+            <Symbol>DYNC1H1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">DHC1</Synonym>
+              <Synonym lang="en">Dnchc1</Synonym>
+              <Synonym lang="en">HL-3</Synonym>
+              <Synonym lang="en">p22</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21376300[PMID]</SourceOfValidation>
+          <Gene id="20831">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit gamma 2</Name>
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+            <SynonymList count="4">
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+              <Synonym lang="en">MGC138504</Synonym>
+              <Synonym lang="en">Stargazin</Synonym>
+              <Synonym lang="en">stargazin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000166862</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="20832">
+            <Name lang="en">erythrocyte membrane protein band 4.1 like 1</Name>
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+              <Synonym lang="en">KIAA0338</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">DEAF1 transcription factor</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000177030</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">eukaryotic translation elongation factor 1 alpha 2</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">CaM-kinase II alpha chain</Synonym>
+              <Synonym lang="en">CaMK-II alpha subunit</Synonym>
+              <Synonym lang="en">CaMKIINalpha</Synonym>
+              <Synonym lang="en">CaMKIIa</Synonym>
+              <Synonym lang="en">KIAA0968</Synonym>
+              <Synonym lang="en">calcium/calmodulin-dependent protein kinase II alpha-B subunit</Synonym>
+              <Synonym lang="en">calcium/calmodulin-dependent protein kinase type II alpha chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070808</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">calcium/calmodulin dependent protein kinase II beta</Name>
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+              <Synonym lang="en">CaM kinase II beta subunit</Synonym>
+              <Synonym lang="en">CaM-kinase II beta chain</Synonym>
+              <Synonym lang="en">CaMKIIß</Synonym>
+              <Synonym lang="en">calcium/calmodulin-dependent protein kinase type II beta chain</Synonym>
+              <Synonym lang="en">proline rich calmodulin-dependent protein kinase</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">X-linked myopathy with postural muscle atrophy</Name>
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+              <Synonym lang="en">LIM protein SLIMMER</Synonym>
+              <Synonym lang="en">MGC111107</Synonym>
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+              <Synonym lang="en">MYLK5</Synonym>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18024">
+      <OrphaCode>178396</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178396</ExpertLink>
+      <Name lang="en">Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19483159[PMID]</SourceOfValidation>
+          <Gene id="15271">
+            <Name lang="en">serpin family A member 1</Name>
+            <Symbol>SERPINA1</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">A1A</Synonym>
+              <Synonym lang="en">A1AT</Synonym>
+              <Synonym lang="en">AAT</Synonym>
+              <Synonym lang="en">PI1</Synonym>
+              <Synonym lang="en">alpha-1 antitrypsin</Synonym>
+              <Synonym lang="en">alpha-1 proteinase inhibitor</Synonym>
+              <Synonym lang="en">alpha-1-antitrypsin</Synonym>
+              <Synonym lang="en">alpha1AT</Synonym>
+              <Synonym lang="en">anti-elastase</Synonym>
+              <Synonym lang="en">protease inhibitor 1</Synonym>
+              <Synonym lang="en">protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56950">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197249</Reference>
+              </ExternalReference>
+              <ExternalReference id="25714">
+                <Source>Genatlas</Source>
+                <Reference>SERPINA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25716">
+                <Source>HGNC</Source>
+                <Reference>8941</Reference>
+              </ExternalReference>
+              <ExternalReference id="25715">
+                <Source>OMIM</Source>
+                <Reference>107400</Reference>
+              </ExternalReference>
+              <ExternalReference id="56951">
+                <Source>Reactome</Source>
+                <Reference>P01009</Reference>
+              </ExternalReference>
+              <ExternalReference id="33829">
+                <Source>SwissProt</Source>
+                <Reference>P01009</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23171">
+                <GeneLocus>14q32.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18025">
+      <OrphaCode>178400</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178400</ExpertLink>
+      <Name lang="en">Distal myopathy with anterior tibial onset</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19493611[PMID]</SourceOfValidation>
+          <Gene id="15903">
+            <Name lang="en">dysferlin</Name>
+            <Symbol>DYSF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FER1L1</Synonym>
+              <Synonym lang="en">fer-1-like family member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58892">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135636</Reference>
+              </ExternalReference>
+              <ExternalReference id="28731">
+                <Source>Genatlas</Source>
+                <Reference>DYSF</Reference>
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+              <ExternalReference id="28733">
+                <Source>HGNC</Source>
+                <Reference>3097</Reference>
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+              <ExternalReference id="28732">
+                <Source>OMIM</Source>
+                <Reference>603009</Reference>
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+              <ExternalReference id="97205">
+                <Source>Reactome</Source>
+                <Reference>O75923</Reference>
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+              <ExternalReference id="32916">
+                <Source>SwissProt</Source>
+                <Reference>O75923</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2p13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18023">
+      <OrphaCode>178389</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178389</ExpertLink>
+      <Name lang="en">Osteopetrosis-hypogammaglobulinemia syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18606301[PMID]</SourceOfValidation>
+          <Gene id="15633">
+            <Name lang="en">TNF receptor superfamily member 11a</Name>
+            <Symbol>TNFRSF11A</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CD265</Synonym>
+              <Synonym lang="en">FEO</Synonym>
+              <Synonym lang="en">ODFR</Synonym>
+              <Synonym lang="en">RANK</Synonym>
+              <Synonym lang="en">TRANCE receptor</Synonym>
+              <Synonym lang="en">TRANCE-R</Synonym>
+              <Synonym lang="en">familial expansile osteolysis</Synonym>
+              <Synonym lang="en">osteoclast differentiation factor receptor</Synonym>
+              <Synonym lang="en">receptor activator of nuclear factor kappa B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193639">
+                <Source>IUPHAR</Source>
+                <Reference>1881</Reference>
+              </ExternalReference>
+              <ExternalReference id="58280">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141655</Reference>
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+              <ExternalReference id="27465">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF11A</Reference>
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+              <ExternalReference id="27463">
+                <Source>HGNC</Source>
+                <Reference>11908</Reference>
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+              <ExternalReference id="27462">
+                <Source>OMIM</Source>
+                <Reference>603499</Reference>
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+              <ExternalReference id="97188">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6Q6</Reference>
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+              <ExternalReference id="32605">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6Q6</Reference>
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+                <GeneLocus>18q21.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">sarcoglycan alpha</Name>
+            <Symbol>SGCA</Symbol>
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+              <Synonym lang="en">50kD DAG</Synonym>
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+              <Synonym lang="en">DMDA2</Synonym>
+              <Synonym lang="en">LGMD2D</Synonym>
+              <Synonym lang="en">SCARMD1</Synonym>
+              <Synonym lang="en">adhalin</Synonym>
+              <Synonym lang="en">limb girdle muscular dystrophy 2D</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57622">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108823</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SGCA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10805</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600119</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16586</Reference>
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+      <Name lang="en">Syndromic microphthalmia type 5</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15846561[PMID]_20396904[PMID]</SourceOfValidation>
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+            <Name lang="en">orthodenticle homeobox 2</Name>
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+            <GeneType id="25993">
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+              <ExternalReference id="58338">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165588</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>OTX2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8522</Reference>
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+                <Reference>600037</Reference>
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+      <Name lang="en">Glycogen storage disease due to muscle phosphorylase kinase deficiency</Name>
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+          <Gene id="15085">
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+                <Source>Reactome</Source>
+                <Reference>P46020</Reference>
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+              <ExternalReference id="32776">
+                <Source>SwissProt</Source>
+                <Reference>P46020</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067177</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8925</Reference>
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+          <Gene id="22085">
+            <Name lang="en">phosphorylase kinase catalytic subunit gamma 1</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q16816</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164776</Reference>
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+      <Name lang="en">Fructose-1,6-bisphosphatase deficiency</Name>
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+                <Source>Reactome</Source>
+                <Reference>P09467</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09467</Reference>
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+      <Name lang="en">Aromatase excess syndrome</Name>
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+          <SourceOfValidation>21470988[PMID]_22319526[PMID]_24064691[PMID]</SourceOfValidation>
+          <Gene id="15837">
+            <Name lang="en">cytochrome P450 family 19 subfamily A member 1</Name>
+            <Symbol>CYP19A1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ARO</Synonym>
+              <Synonym lang="en">ARO1</Synonym>
+              <Synonym lang="en">CPV1</Synonym>
+              <Synonym lang="en">CYAR</Synonym>
+              <Synonym lang="en">P-450AROM</Synonym>
+              <Synonym lang="en">aromatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="28425">
+                <Source>OMIM</Source>
+                <Reference>107910</Reference>
+              </ExternalReference>
+              <ExternalReference id="58868">
+                <Source>Reactome</Source>
+                <Reference>P11511</Reference>
+              </ExternalReference>
+              <ExternalReference id="32848">
+                <Source>SwissProt</Source>
+                <Reference>P11511</Reference>
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+              <ExternalReference id="58867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137869</Reference>
+              </ExternalReference>
+              <ExternalReference id="28424">
+                <Source>Genatlas</Source>
+                <Reference>CYP19A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28426">
+                <Source>HGNC</Source>
+                <Reference>2594</Reference>
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+              <ExternalReference id="82878">
+                <Source>IUPHAR</Source>
+                <Reference>1362</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24799">
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18019">
+      <OrphaCode>178355</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178355</ExpertLink>
+      <Name lang="en">Smith-McCort dysplasia</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15464420[PMID]_12491225[PMID]</SourceOfValidation>
+          <Gene id="15902">
+            <Name lang="en">dymeclin</Name>
+            <Symbol>DYM</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DMC</Synonym>
+              <Synonym lang="en">FLJ20071</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57314">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141627</Reference>
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+              <ExternalReference id="28729">
+                <Source>Genatlas</Source>
+                <Reference>DYM</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21317</Reference>
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+              <ExternalReference id="28726">
+                <Source>OMIM</Source>
+                <Reference>607461</Reference>
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+              <ExternalReference id="32915">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTS9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22652534[PMID]</SourceOfValidation>
+          <Gene id="21435">
+            <Name lang="en">RAB33B, member RAS oncogene family</Name>
+            <Symbol>RAB33B</Symbol>
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+              <Synonym lang="en">DKFZP434G099</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172007</Reference>
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+              <ExternalReference id="72181">
+                <Source>Genatlas</Source>
+                <Reference>RAB33B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16075</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605950</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H082</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H082</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">UV-sensitive syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15486090[PMID]</SourceOfValidation>
+          <Gene id="15991">
+            <Name lang="en">ERCC excision repair 6, chromatin remodeling factor</Name>
+            <Symbol>ERCC6</Symbol>
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+              <Synonym lang="en">ARMD5</Synonym>
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+              <Synonym lang="en">Cockayne syndrome B protein</Synonym>
+              <Synonym lang="en">RAD26</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58073">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000225830</Reference>
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+              <ExternalReference id="29169">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q03468</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19329487[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CSA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q13216</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22466610[PMID]_22466611[PMID]_22466612[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>12661011[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17656252[PMID]</SourceOfValidation>
+          <Gene id="21870">
+            <Name lang="en">clathrin heavy chain</Name>
+            <Symbol>CLTC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hc</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83669">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141367</Reference>
+              </ExternalReference>
+              <ExternalReference id="77115">
+                <Source>Genatlas</Source>
+                <Reference>CLTC</Reference>
+              </ExternalReference>
+              <ExternalReference id="77113">
+                <Source>HGNC</Source>
+                <Reference>2092</Reference>
+              </ExternalReference>
+              <ExternalReference id="77114">
+                <Source>OMIM</Source>
+                <Reference>118955</Reference>
+              </ExternalReference>
+              <ExternalReference id="83668">
+                <Source>Reactome</Source>
+                <Reference>Q00610</Reference>
+              </ExternalReference>
+              <ExternalReference id="77116">
+                <Source>SwissProt</Source>
+                <Reference>Q00610</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12381">
+                <GeneLocus>17q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>13679433[PMID]_12112524[PMID]</SourceOfValidation>
+          <Gene id="22224">
+            <Name lang="en">cysteinyl-tRNA synthetase 1</Name>
+            <Symbol>CARS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'cysteine tRNA ligase 1, cytoplasmic'</Synonym>
+              <Synonym lang="en">CARS1</Synonym>
+              <Synonym lang="en">Cysteine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83898">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110619</Reference>
+              </ExternalReference>
+              <ExternalReference id="80146">
+                <Source>Genatlas</Source>
+                <Reference>CARS</Reference>
+              </ExternalReference>
+              <ExternalReference id="80144">
+                <Source>HGNC</Source>
+                <Reference>1493</Reference>
+              </ExternalReference>
+              <ExternalReference id="80145">
+                <Source>OMIM</Source>
+                <Reference>123859</Reference>
+              </ExternalReference>
+              <ExternalReference id="83897">
+                <Source>Reactome</Source>
+                <Reference>P49589</Reference>
+              </ExternalReference>
+              <ExternalReference id="80147">
+                <Source>SwissProt</Source>
+                <Reference>P49589</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25169">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10934142[PMID]</SourceOfValidation>
+          <Gene id="22225">
+            <Name lang="en">tropomyosin 4</Name>
+            <Symbol>TPM4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83900">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167460</Reference>
+              </ExternalReference>
+              <ExternalReference id="80151">
+                <Source>Genatlas</Source>
+                <Reference>TPM4</Reference>
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+              <ExternalReference id="80149">
+                <Source>HGNC</Source>
+                <Reference>12013</Reference>
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+              <ExternalReference id="80150">
+                <Source>OMIM</Source>
+                <Reference>600317</Reference>
+              </ExternalReference>
+              <ExternalReference id="83899">
+                <Source>Reactome</Source>
+                <Reference>P67936</Reference>
+              </ExternalReference>
+              <ExternalReference id="80152">
+                <Source>SwissProt</Source>
+                <Reference>P67936</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23639">
+                <GeneLocus>19p13.12-p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="703">
+      <OrphaCode>117</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=117</ExpertLink>
+      <Name lang="en">Behçet disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="15">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20622878[PMID]_26015771[PMID]</SourceOfValidation>
+          <Gene id="16253">
+            <Name lang="en">interleukin 10</Name>
+            <Symbol>IL10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CSIF</Synonym>
+              <Synonym lang="en">IL-10</Synonym>
+              <Synonym lang="en">IL10A</Synonym>
+              <Synonym lang="en">T-cell growth inhibitory factor</Synonym>
+              <Synonym lang="en">TGIF</Synonym>
+              <Synonym lang="en">cytokine synthesis inhibitory factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135053">
+                <Source>Reactome</Source>
+                <Reference>P22301</Reference>
+              </ExternalReference>
+              <ExternalReference id="56687">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136634</Reference>
+              </ExternalReference>
+              <ExternalReference id="37491">
+                <Source>Genatlas</Source>
+                <Reference>IL10</Reference>
+              </ExternalReference>
+              <ExternalReference id="30440">
+                <Source>HGNC</Source>
+                <Reference>5962</Reference>
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+              <ExternalReference id="30439">
+                <Source>OMIM</Source>
+                <Reference>124092</Reference>
+              </ExternalReference>
+              <ExternalReference id="33318">
+                <Source>SwissProt</Source>
+                <Reference>P22301</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35937">
+                <GeneLocus>1q32.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20622878[PMID]</SourceOfValidation>
+          <Gene id="16200">
+            <Name lang="en">major histocompatibility complex, class I, B</Name>
+            <Symbol>HLA-B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234745</Reference>
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+              <ExternalReference id="30186">
+                <Source>Genatlas</Source>
+                <Reference>HLA-B</Reference>
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+              <ExternalReference id="30188">
+                <Source>HGNC</Source>
+                <Reference>4932</Reference>
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+              <ExternalReference id="30187">
+                <Source>OMIM</Source>
+                <Reference>142830</Reference>
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+              <ExternalReference id="135296">
+                <Source>SwissProt</Source>
+                <Reference>P01889</Reference>
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+              <ExternalReference id="135297">
+                <Source>Reactome</Source>
+                <Reference>P30486</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="58523">
+                <GeneLocus>6p21.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26136352[PMID]</SourceOfValidation>
+          <Gene id="16029">
+            <Name lang="en">Fas cell surface death receptor</Name>
+            <Symbol>FAS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">APO-1</Synonym>
+              <Synonym lang="en">CD95</Synonym>
+              <Synonym lang="en">TNF receptor superfamily member 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193600">
+                <Source>IUPHAR</Source>
+                <Reference>1875</Reference>
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+              <ExternalReference id="58618">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000026103</Reference>
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+              <ExternalReference id="29349">
+                <Source>Genatlas</Source>
+                <Reference>FAS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11920</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134637</Reference>
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+              <ExternalReference id="58619">
+                <Source>Reactome</Source>
+                <Reference>P25445</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P25445</Reference>
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+                <GeneLocus>10q23.31</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21918955[PMID]_22455605[PMID]</SourceOfValidation>
+          <Gene id="20669">
+            <Name lang="en">UBA domain containing 2</Name>
+            <Symbol>UBAC2</Symbol>
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+              <Synonym lang="en">FLJ30548</Synonym>
+              <Synonym lang="en">RP11-178C10.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="57626">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134882</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UBAC2</Reference>
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+              <ExternalReference id="54902">
+                <Source>HGNC</Source>
+                <Reference>20486</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NBM4</Reference>
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+            <LocusList count="1">
+              <Locus id="11693">
+                <GeneLocus>13q32.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23633568[PMID]</SourceOfValidation>
+          <Gene id="16256">
+            <Name lang="en">interleukin 23 receptor</Name>
+            <Symbol>IL23R</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IL-23R</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="100303">
+                <Source>Reactome</Source>
+                <Reference>Q5VWK5</Reference>
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+              <ExternalReference id="56688">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162594</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IL23R</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19100</Reference>
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+              <ExternalReference id="30452">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q5VWK5</Reference>
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+                <Source>IUPHAR</Source>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23633568[PMID]</SourceOfValidation>
+          <Gene id="16389">
+            <Name lang="en">MEFV innate immuity regulator, pyrin</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57820">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103313</Reference>
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+              <ExternalReference id="31082">
+                <Source>Genatlas</Source>
+                <Reference>MEFV</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O15553</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15553</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14765</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">complement C4A (Rodgers blood group)</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60186">
+                <Source>Reactome</Source>
+                <Reference>P0C0L4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0C0L4</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25799145[PMID]</SourceOfValidation>
+          <Gene id="19315">
+            <Name lang="en">interleukin 12A</Name>
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+              <Synonym lang="en">IL-12, subunit p35</Synonym>
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+              <Synonym lang="en">NF cell stimulatory factor chain 1</Synonym>
+              <Synonym lang="en">NFSK</Synonym>
+              <Synonym lang="en">cytotoxic lymphocyte maturation factor 1, p35</Synonym>
+              <Synonym lang="en">interleukin 12, p35</Synonym>
+              <Synonym lang="en">interleukin-12 alpha chain</Synonym>
+              <Synonym lang="en">natural killer cell stimulatory factor 1, 35 kD subunit</Synonym>
+              <Synonym lang="en">p35</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168811</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>161560</Reference>
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+              <ExternalReference id="98084">
+                <Source>Reactome</Source>
+                <Reference>P29459</Reference>
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+              <ExternalReference id="47727">
+                <Source>SwissProt</Source>
+                <Reference>P29459</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17779">
+                <GeneLocus>3q25.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23633568[PMID]</SourceOfValidation>
+          <Gene id="22161">
+            <Name lang="en">toll like receptor 4</Name>
+            <Symbol>TLR4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARMD10</Synonym>
+              <Synonym lang="en">CD284</Synonym>
+              <Synonym lang="en">TLR-4</Synonym>
+              <Synonym lang="en">hToll</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>1754</Reference>
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+              <ExternalReference id="83850">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136869</Reference>
+              </ExternalReference>
+              <ExternalReference id="79682">
+                <Source>Genatlas</Source>
+                <Reference>TLR4</Reference>
+              </ExternalReference>
+              <ExternalReference id="79680">
+                <Source>HGNC</Source>
+                <Reference>11850</Reference>
+              </ExternalReference>
+              <ExternalReference id="79681">
+                <Source>OMIM</Source>
+                <Reference>603030</Reference>
+              </ExternalReference>
+              <ExternalReference id="83849">
+                <Source>Reactome</Source>
+                <Reference>O00206</Reference>
+              </ExternalReference>
+              <ExternalReference id="79683">
+                <Source>SwissProt</Source>
+                <Reference>O00206</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60453">
+                <GeneLocus>9q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26097239[PMID]</SourceOfValidation>
+          <Gene id="23607">
+            <Name lang="en">C-C motif chemokine receptor 1</Name>
+            <Symbol>CCR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD191</Synonym>
+              <Synonym lang="en">CKR-1</Synonym>
+              <Synonym lang="en">MIP1aR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>58</Reference>
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+              <ExternalReference id="98612">
+                <Source>OMIM</Source>
+                <Reference>601159</Reference>
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+              <ExternalReference id="98615">
+                <Source>Reactome</Source>
+                <Reference>P32246</Reference>
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+              <ExternalReference id="98614">
+                <Source>SwissProt</Source>
+                <Reference>P32246</Reference>
+              </ExternalReference>
+              <ExternalReference id="98616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163823</Reference>
+              </ExternalReference>
+              <ExternalReference id="98613">
+                <Source>Genatlas</Source>
+                <Reference>CCR1</Reference>
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+              <ExternalReference id="98611">
+                <Source>HGNC</Source>
+                <Reference>1602</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26097239[PMID]</SourceOfValidation>
+          <Gene id="23608">
+            <Name lang="en">killer cell lectin like receptor C4</Name>
+            <Symbol>KLRC4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NKG2-F</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="98623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183542</Reference>
+              </ExternalReference>
+              <ExternalReference id="98621">
+                <Source>Genatlas</Source>
+                <Reference>KLRC4</Reference>
+              </ExternalReference>
+              <ExternalReference id="98619">
+                <Source>HGNC</Source>
+                <Reference>6377</Reference>
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+              <ExternalReference id="98620">
+                <Source>OMIM</Source>
+                <Reference>602893</Reference>
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+              <ExternalReference id="98622">
+                <Source>SwissProt</Source>
+                <Reference>O43908</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26097239[PMID]</SourceOfValidation>
+          <Gene id="23609">
+            <Name lang="en">IL12A antisense RNA 1</Name>
+            <Symbol>IL12A-AS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ILAS1-AS1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="98626">
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+                <Reference>ENSG00000244040</Reference>
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+                <Source>HGNC</Source>
+                <Reference>49094</Reference>
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+            <LocusList count="1">
+              <Locus id="18365">
+                <GeneLocus>3q25.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26097239[PMID]</SourceOfValidation>
+          <Gene id="23610">
+            <Name lang="en">endoplasmic reticulum aminopeptidase 1</Name>
+            <Symbol>ERAP1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">A-LAP</Synonym>
+              <Synonym lang="en">ARTS-1</Synonym>
+              <Synonym lang="en">ERAAP1</Synonym>
+              <Synonym lang="en">KIAA0525</Synonym>
+              <Synonym lang="en">PILS-AP</Synonym>
+              <Synonym lang="en">adipocyte-derived leucine aminopeptidase</Synonym>
+              <Synonym lang="en">aminopeptidase regulator of TNFR1 shedding</Synonym>
+              <Synonym lang="en">puromycin-insensitive leucyl-specific aminopeptidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="98633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164307</Reference>
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+              <ExternalReference id="98630">
+                <Source>Genatlas</Source>
+                <Reference>ERAP1</Reference>
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+              <ExternalReference id="98628">
+                <Source>HGNC</Source>
+                <Reference>18173</Reference>
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+              <ExternalReference id="98634">
+                <Source>IUPHAR</Source>
+                <Reference>1566</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606832</Reference>
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+              <ExternalReference id="98632">
+                <Source>Reactome</Source>
+                <Reference>Q9NZ08</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZ08</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33393726[PMID]</SourceOfValidation>
+          <Gene id="16242">
+            <Name lang="en">interferon gamma receptor 1</Name>
+            <Symbol>IFNGR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD119</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193598">
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+              <ExternalReference id="58904">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000027697</Reference>
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+              <ExternalReference id="30389">
+                <Source>Genatlas</Source>
+                <Reference>IFNGR1</Reference>
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+              <ExternalReference id="30387">
+                <Source>HGNC</Source>
+                <Reference>5439</Reference>
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+              <ExternalReference id="30386">
+                <Source>OMIM</Source>
+                <Reference>107470</Reference>
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+              <ExternalReference id="58905">
+                <Source>Reactome</Source>
+                <Reference>P15260</Reference>
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+              <ExternalReference id="33306">
+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Perry syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16942">
+            <Name lang="en">dynactin subunit 1</Name>
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+              <Synonym lang="en">p150 glued homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56793">
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+                <Reference>ENSG00000204843</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DCTN1</Reference>
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+              <ExternalReference id="35817">
+                <Source>HGNC</Source>
+                <Reference>2711</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="56794">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Brain calcification, Rajab type</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">phenylalanyl-tRNA synthetase subunit beta</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116120</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NSD9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NSD9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Bleeding disorder in hemophilia A carriers</Name>
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+            <Name lang="en">coagulation factor VIII</Name>
+            <Symbol>F8</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000101981</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">small nucleolar RNA, C/D box 115 cluster</Name>
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+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="37643">
+                <Source>Genatlas</Source>
+                <Reference>SNORD115@</Reference>
+              </ExternalReference>
+              <ExternalReference id="37644">
+                <Source>HGNC</Source>
+                <Reference>32780</Reference>
+              </ExternalReference>
+              <ExternalReference id="81547">
+                <Source>OMIM</Source>
+                <Reference>609837</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10177">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="15534">
+            <Name lang="en">small nuclear ribonucleoprotein polypeptide N</Name>
+            <Symbol>SNRPN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">HCERN3</Synonym>
+              <Synonym lang="en">RT-LI</Synonym>
+              <Synonym lang="en">SM protein N</Synonym>
+              <Synonym lang="en">SM-D</Synonym>
+              <Synonym lang="en">SMN</Synonym>
+              <Synonym lang="en">SNRNP-N</Synonym>
+              <Synonym lang="en">SNURF-SNRPN</Synonym>
+              <Synonym lang="en">small nuclear ribonucleoprotein N</Synonym>
+              <Synonym lang="en">tissue-specific splicing protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126327">
+                <Source>Reactome</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+              <ExternalReference id="56860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128739</Reference>
+              </ExternalReference>
+              <ExternalReference id="36352">
+                <Source>Genatlas</Source>
+                <Reference>SNRPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="26990">
+                <Source>HGNC</Source>
+                <Reference>11164</Reference>
+              </ExternalReference>
+              <ExternalReference id="26989">
+                <Source>OMIM</Source>
+                <Reference>182279</Reference>
+              </ExternalReference>
+              <ExternalReference id="32505">
+                <Source>SwissProt</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26639">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16421">
+            <Name lang="en">MAGE family member L2</Name>
+            <Symbol>MAGEL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">nM15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143846">
+                <Source>Reactome</Source>
+                <Reference>Q9UJ55</Reference>
+              </ExternalReference>
+              <ExternalReference id="56857">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254585</Reference>
+              </ExternalReference>
+              <ExternalReference id="37216">
+                <Source>Genatlas</Source>
+                <Reference>MAGEL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31228">
+                <Source>HGNC</Source>
+                <Reference>6814</Reference>
+              </ExternalReference>
+              <ExternalReference id="31227">
+                <Source>OMIM</Source>
+                <Reference>605283</Reference>
+              </ExternalReference>
+              <ExternalReference id="33485">
+                <Source>SwissProt</Source>
+                <Reference>Q9UJ55</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39157">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16522">
+            <Name lang="en">necdin, MAGE family member</Name>
+            <Symbol>NDN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HsT16328</Synonym>
+              <Synonym lang="en">PWCR</Synonym>
+              <Synonym lang="en">Prader-Willi syndrome chromosome region</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135055">
+                <Source>Reactome</Source>
+                <Reference>Q99608</Reference>
+              </ExternalReference>
+              <ExternalReference id="56858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182636</Reference>
+              </ExternalReference>
+              <ExternalReference id="37540">
+                <Source>Genatlas</Source>
+                <Reference>NDN</Reference>
+              </ExternalReference>
+              <ExternalReference id="31693">
+                <Source>HGNC</Source>
+                <Reference>7675</Reference>
+              </ExternalReference>
+              <ExternalReference id="31692">
+                <Source>OMIM</Source>
+                <Reference>602117</Reference>
+              </ExternalReference>
+              <ExternalReference id="33587">
+                <Source>SwissProt</Source>
+                <Reference>Q99608</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35941">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16584">
+            <Name lang="en">OCA2 melanosomal transmembrane protein</Name>
+            <Symbol>OCA2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BEY</Synonym>
+              <Synonym lang="en">BEY1</Synonym>
+              <Synonym lang="en">BEY2</Synonym>
+              <Synonym lang="en">EYCL</Synonym>
+              <Synonym lang="en">P-protein</Synonym>
+              <Synonym lang="en">melanocyte-specific transporter protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126365">
+                <Source>Reactome</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+              <ExternalReference id="56859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104044</Reference>
+              </ExternalReference>
+              <ExternalReference id="31985">
+                <Source>Genatlas</Source>
+                <Reference>OCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31987">
+                <Source>HGNC</Source>
+                <Reference>8101</Reference>
+              </ExternalReference>
+              <ExternalReference id="51620">
+                <Source>OMIM</Source>
+                <Reference>611409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33649">
+                <Source>SwissProt</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26715">
+                <GeneLocus>15q12-q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]_20588305[PMID]_22694955[PMID]</SourceOfValidation>
+          <Gene id="17270">
+            <Name lang="en">small nucleolar RNA, C/D box 116 cluster</Name>
+            <Symbol>SNORD116@</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HBII-85</Synonym>
+              <Synonym lang="en">PET1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="40631">
+                <Source>Genatlas</Source>
+                <Reference>SNORD116@</Reference>
+              </ExternalReference>
+              <ExternalReference id="40632">
+                <Source>HGNC</Source>
+                <Reference>32781</Reference>
+              </ExternalReference>
+              <ExternalReference id="81548">
+                <Source>OMIM</Source>
+                <Reference>605436</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9953">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="649">
+      <OrphaCode>423</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=423</ExpertLink>
+      <Name lang="en">Malignant hyperthermia of anesthesia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9175745[PMID]_9199552[PMID]_20301325[PMID]</SourceOfValidation>
+          <Gene id="15394">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 S</Name>
+            <Symbol>CACNA1S</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Cav1.1</Synonym>
+              <Synonym lang="en">hypoPP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56988">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081248</Reference>
+              </ExternalReference>
+              <ExternalReference id="26313">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1S</Reference>
+              </ExternalReference>
+              <ExternalReference id="26311">
+                <Source>HGNC</Source>
+                <Reference>1397</Reference>
+              </ExternalReference>
+              <ExternalReference id="82802">
+                <Source>IUPHAR</Source>
+                <Reference>528</Reference>
+              </ExternalReference>
+              <ExternalReference id="26310">
+                <Source>OMIM</Source>
+                <Reference>114208</Reference>
+              </ExternalReference>
+              <ExternalReference id="56989">
+                <Source>Reactome</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
+              <ExternalReference id="32362">
+                <Source>SwissProt</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26371">
+                <GeneLocus>1q32.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301325[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
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+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
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+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15855">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17993">
+      <OrphaCode>177904</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=177904</ExpertLink>
+      <Name lang="en">Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]_22495932[PMID]_28296064[PMID]</SourceOfValidation>
+          <Gene id="17415">
+            <Name lang="en">small nucleolar RNA, C/D box 115 cluster</Name>
+            <Symbol>SNORD115@</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBII-52</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="37643">
+                <Source>Genatlas</Source>
+                <Reference>SNORD115@</Reference>
+              </ExternalReference>
+              <ExternalReference id="37644">
+                <Source>HGNC</Source>
+                <Reference>32780</Reference>
+              </ExternalReference>
+              <ExternalReference id="81547">
+                <Source>OMIM</Source>
+                <Reference>609837</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10177">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="15534">
+            <Name lang="en">small nuclear ribonucleoprotein polypeptide N</Name>
+            <Symbol>SNRPN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">HCERN3</Synonym>
+              <Synonym lang="en">RT-LI</Synonym>
+              <Synonym lang="en">SM protein N</Synonym>
+              <Synonym lang="en">SM-D</Synonym>
+              <Synonym lang="en">SMN</Synonym>
+              <Synonym lang="en">SNRNP-N</Synonym>
+              <Synonym lang="en">SNURF-SNRPN</Synonym>
+              <Synonym lang="en">small nuclear ribonucleoprotein N</Synonym>
+              <Synonym lang="en">tissue-specific splicing protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126327">
+                <Source>Reactome</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+              <ExternalReference id="56860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128739</Reference>
+              </ExternalReference>
+              <ExternalReference id="36352">
+                <Source>Genatlas</Source>
+                <Reference>SNRPN</Reference>
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+              <ExternalReference id="26990">
+                <Source>HGNC</Source>
+                <Reference>11164</Reference>
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+              <ExternalReference id="26989">
+                <Source>OMIM</Source>
+                <Reference>182279</Reference>
+              </ExternalReference>
+              <ExternalReference id="32505">
+                <Source>SwissProt</Source>
+                <Reference>P63162</Reference>
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+            <LocusList count="1">
+              <Locus id="26639">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16421">
+            <Name lang="en">MAGE family member L2</Name>
+            <Symbol>MAGEL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">nM15</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143846">
+                <Source>Reactome</Source>
+                <Reference>Q9UJ55</Reference>
+              </ExternalReference>
+              <ExternalReference id="56857">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254585</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MAGEL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6814</Reference>
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+              <ExternalReference id="31227">
+                <Source>OMIM</Source>
+                <Reference>605283</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UJ55</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16522">
+            <Name lang="en">necdin, MAGE family member</Name>
+            <Symbol>NDN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HsT16328</Synonym>
+              <Synonym lang="en">PWCR</Synonym>
+              <Synonym lang="en">Prader-Willi syndrome chromosome region</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="135055">
+                <Source>Reactome</Source>
+                <Reference>Q99608</Reference>
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+              <ExternalReference id="56858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182636</Reference>
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+              <ExternalReference id="37540">
+                <Source>Genatlas</Source>
+                <Reference>NDN</Reference>
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+              <ExternalReference id="31693">
+                <Source>HGNC</Source>
+                <Reference>7675</Reference>
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+              <ExternalReference id="31692">
+                <Source>OMIM</Source>
+                <Reference>602117</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99608</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16584">
+            <Name lang="en">OCA2 melanosomal transmembrane protein</Name>
+            <Symbol>OCA2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BEY</Synonym>
+              <Synonym lang="en">BEY1</Synonym>
+              <Synonym lang="en">BEY2</Synonym>
+              <Synonym lang="en">EYCL</Synonym>
+              <Synonym lang="en">P-protein</Synonym>
+              <Synonym lang="en">melanocyte-specific transporter protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126365">
+                <Source>Reactome</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+              <ExternalReference id="56859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104044</Reference>
+              </ExternalReference>
+              <ExternalReference id="31985">
+                <Source>Genatlas</Source>
+                <Reference>OCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31987">
+                <Source>HGNC</Source>
+                <Reference>8101</Reference>
+              </ExternalReference>
+              <ExternalReference id="51620">
+                <Source>OMIM</Source>
+                <Reference>611409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33649">
+                <Source>SwissProt</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26715">
+                <GeneLocus>15q12-q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]_20588305[PMID]_22694955[PMID]</SourceOfValidation>
+          <Gene id="17270">
+            <Name lang="en">small nucleolar RNA, C/D box 116 cluster</Name>
+            <Symbol>SNORD116@</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HBII-85</Synonym>
+              <Synonym lang="en">PET1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="40631">
+                <Source>Genatlas</Source>
+                <Reference>SNORD116@</Reference>
+              </ExternalReference>
+              <ExternalReference id="40632">
+                <Source>HGNC</Source>
+                <Reference>32781</Reference>
+              </ExternalReference>
+              <ExternalReference id="81548">
+                <Source>OMIM</Source>
+                <Reference>605436</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9953">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17994">
+      <OrphaCode>177907</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=177907</ExpertLink>
+      <Name lang="en">Prader-Willi syndrome due to translocation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11159938[PMID]_12154412[PMID]_8845846[PMID]</SourceOfValidation>
+          <Gene id="15534">
+            <Name lang="en">small nuclear ribonucleoprotein polypeptide N</Name>
+            <Symbol>SNRPN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">HCERN3</Synonym>
+              <Synonym lang="en">RT-LI</Synonym>
+              <Synonym lang="en">SM protein N</Synonym>
+              <Synonym lang="en">SM-D</Synonym>
+              <Synonym lang="en">SMN</Synonym>
+              <Synonym lang="en">SNRNP-N</Synonym>
+              <Synonym lang="en">SNURF-SNRPN</Synonym>
+              <Synonym lang="en">small nuclear ribonucleoprotein N</Synonym>
+              <Synonym lang="en">tissue-specific splicing protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126327">
+                <Source>Reactome</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+              <ExternalReference id="56860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128739</Reference>
+              </ExternalReference>
+              <ExternalReference id="36352">
+                <Source>Genatlas</Source>
+                <Reference>SNRPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="26990">
+                <Source>HGNC</Source>
+                <Reference>11164</Reference>
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+              <ExternalReference id="26989">
+                <Source>OMIM</Source>
+                <Reference>182279</Reference>
+              </ExternalReference>
+              <ExternalReference id="32505">
+                <Source>SwissProt</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26639">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17995">
+      <OrphaCode>177910</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=177910</ExpertLink>
+      <Name lang="en">Prader-Willi syndrome due to imprinting mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22495932[PMID]_20301505[PMID]_28296064[PMID]</SourceOfValidation>
+          <Gene id="17415">
+            <Name lang="en">small nucleolar RNA, C/D box 115 cluster</Name>
+            <Symbol>SNORD115@</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBII-52</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="37643">
+                <Source>Genatlas</Source>
+                <Reference>SNORD115@</Reference>
+              </ExternalReference>
+              <ExternalReference id="37644">
+                <Source>HGNC</Source>
+                <Reference>32780</Reference>
+              </ExternalReference>
+              <ExternalReference id="81547">
+                <Source>OMIM</Source>
+                <Reference>609837</Reference>
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+            <LocusList count="1">
+              <Locus id="10177">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9634532[PMID]</SourceOfValidation>
+          <Gene id="15534">
+            <Name lang="en">small nuclear ribonucleoprotein polypeptide N</Name>
+            <Symbol>SNRPN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">HCERN3</Synonym>
+              <Synonym lang="en">RT-LI</Synonym>
+              <Synonym lang="en">SM protein N</Synonym>
+              <Synonym lang="en">SM-D</Synonym>
+              <Synonym lang="en">SMN</Synonym>
+              <Synonym lang="en">SNRNP-N</Synonym>
+              <Synonym lang="en">SNURF-SNRPN</Synonym>
+              <Synonym lang="en">small nuclear ribonucleoprotein N</Synonym>
+              <Synonym lang="en">tissue-specific splicing protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126327">
+                <Source>Reactome</Source>
+                <Reference>P63162</Reference>
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+              <ExternalReference id="56860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128739</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SNRPN</Reference>
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+              <ExternalReference id="26990">
+                <Source>HGNC</Source>
+                <Reference>11164</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182279</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P63162</Reference>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16421">
+            <Name lang="en">MAGE family member L2</Name>
+            <Symbol>MAGEL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">nM15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143846">
+                <Source>Reactome</Source>
+                <Reference>Q9UJ55</Reference>
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+              <ExternalReference id="56857">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254585</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MAGEL2</Reference>
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+              <ExternalReference id="31228">
+                <Source>HGNC</Source>
+                <Reference>6814</Reference>
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+              <ExternalReference id="31227">
+                <Source>OMIM</Source>
+                <Reference>605283</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UJ55</Reference>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24039599[PMID]</SourceOfValidation>
+          <Gene id="16522">
+            <Name lang="en">necdin, MAGE family member</Name>
+            <Symbol>NDN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HsT16328</Synonym>
+              <Synonym lang="en">PWCR</Synonym>
+              <Synonym lang="en">Prader-Willi syndrome chromosome region</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="135055">
+                <Source>Reactome</Source>
+                <Reference>Q99608</Reference>
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+              <ExternalReference id="56858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182636</Reference>
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+              <ExternalReference id="37540">
+                <Source>Genatlas</Source>
+                <Reference>NDN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7675</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602117</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99608</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22495932[PMID]</SourceOfValidation>
+          <Gene id="17270">
+            <Name lang="en">small nucleolar RNA, C/D box 116 cluster</Name>
+            <Symbol>SNORD116@</Symbol>
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+              <Synonym lang="en">PET1</Synonym>
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+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="3">
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+                <Reference>SNORD116@</Reference>
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+                <Source>HGNC</Source>
+                <Reference>32781</Reference>
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+              <ExternalReference id="81548">
+                <Source>OMIM</Source>
+                <Reference>605436</Reference>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Hirschsprung disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="14">
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+            <Name lang="en">ATPase copper transporting alpha</Name>
+            <Symbol>ATP7A</Symbol>
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+              <Synonym lang="en">copper pump 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193549">
+                <Source>IUPHAR</Source>
+                <Reference>852</Reference>
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+              <ExternalReference id="57097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165240</Reference>
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+              <ExternalReference id="25999">
+                <Source>Genatlas</Source>
+                <Reference>ATP7A</Reference>
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+              <ExternalReference id="25997">
+                <Source>HGNC</Source>
+                <Reference>869</Reference>
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+              <ExternalReference id="25996">
+                <Source>OMIM</Source>
+                <Reference>300011</Reference>
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+              <ExternalReference id="57098">
+                <Source>Reactome</Source>
+                <Reference>Q04656</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q04656</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15058">
+            <Name lang="en">ATP binding cassette subfamily D member 1</Name>
+            <Symbol>ABCD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ALDP</Synonym>
+              <Synonym lang="en">AMN</Synonym>
+              <Synonym lang="en">adrenoleukodystrophy</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>788</Reference>
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+              <ExternalReference id="60070">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101986</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ABCD1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P33897</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P33897</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="26625">
+            <Name lang="en">erb-b2 receptor tyrosine kinase 2</Name>
+            <Symbol>ERBB2</Symbol>
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+              <Synonym lang="en">HER-2</Synonym>
+              <Synonym lang="en">HER2</Synonym>
+              <Synonym lang="en">NEU</Synonym>
+              <Synonym lang="en">human epidermal growth factor receptor 2</Synonym>
+              <Synonym lang="en">neuro/glioblastoma derived oncogene homolog</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="200652">
+                <Source>SwissProt</Source>
+                <Reference>P04626</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164870</Reference>
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+              <ExternalReference id="156680">
+                <Source>IUPHAR</Source>
+                <Reference>2019</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141736</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>3430</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">human epidermal growth factor receptor 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>190151</Reference>
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+              <ExternalReference id="60057">
+                <Source>Reactome</Source>
+                <Reference>P21860</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065361</Reference>
+              </ExternalReference>
+              <ExternalReference id="38182">
+                <Source>Genatlas</Source>
+                <Reference>ERBB3</Reference>
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+              <ExternalReference id="38185">
+                <Source>HGNC</Source>
+                <Reference>3431</Reference>
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+            <LocusList count="1">
+              <Locus id="22049">
+                <GeneLocus>12q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32413283[PMID]</SourceOfValidation>
+          <Gene id="23908">
+            <Name lang="en">smoothened, frizzled class receptor</Name>
+            <Symbol>SMO</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FZD11</Synonym>
+              <Synonym lang="en">frizzled family member 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="103982">
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+                <Reference>11119</Reference>
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+              <ExternalReference id="103983">
+                <Source>OMIM</Source>
+                <Reference>601500</Reference>
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+              <ExternalReference id="103984">
+                <Source>Genatlas</Source>
+                <Reference>SMO</Reference>
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+              <ExternalReference id="103985">
+                <Source>SwissProt</Source>
+                <Reference>Q99835</Reference>
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+              <ExternalReference id="103986">
+                <Source>Reactome</Source>
+                <Reference>Q99835</Reference>
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+              <ExternalReference id="103987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128602</Reference>
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+              <ExternalReference id="103988">
+                <Source>IUPHAR</Source>
+                <Reference>239</Reference>
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+            <LocusList count="1">
+              <Locus id="20333">
+                <GeneLocus>7q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31609069[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
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+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
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+              <ExternalReference id="25386">
+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
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+              <ExternalReference id="82759">
+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
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+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
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+                <GeneLocus>10q11.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301612[PMID]</SourceOfValidation>
+          <Gene id="15905">
+            <Name lang="en">endothelin converting enzyme 1</Name>
+            <Symbol>ECE1</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57509">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117298</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ECE1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3146</Reference>
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+              <ExternalReference id="82887">
+                <Source>IUPHAR</Source>
+                <Reference>1615</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600423</Reference>
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+              <ExternalReference id="32918">
+                <Source>SwissProt</Source>
+                <Reference>P42892</Reference>
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+              <ExternalReference id="135051">
+                <Source>Reactome</Source>
+                <Reference>P42892</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301612[PMID]</SourceOfValidation>
+          <Gene id="15911">
+            <Name lang="en">endothelin 3</Name>
+            <Symbol>EDN3</Symbol>
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+              <Synonym lang="en">ET3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57507">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124205</Reference>
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+              <ExternalReference id="37000">
+                <Source>Genatlas</Source>
+                <Reference>EDN3</Reference>
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+              <ExternalReference id="28770">
+                <Source>HGNC</Source>
+                <Reference>3178</Reference>
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+                <Source>OMIM</Source>
+                <Reference>131242</Reference>
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+              <ExternalReference id="57508">
+                <Source>Reactome</Source>
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+              <ExternalReference id="32924">
+                <Source>SwissProt</Source>
+                <Reference>P14138</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301612[PMID]</SourceOfValidation>
+          <Gene id="15912">
+            <Name lang="en">endothelin receptor type B</Name>
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+              <Synonym lang="en">ETB</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P24530</Reference>
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+              <ExternalReference id="32925">
+                <Source>SwissProt</Source>
+                <Reference>P24530</Reference>
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+              <ExternalReference id="57511">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136160</Reference>
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+                <Reference>3180</Reference>
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+                <Reference>220</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301612[PMID]</SourceOfValidation>
+          <Gene id="16116">
+            <Name lang="en">glial cell derived neurotrophic factor</Name>
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+              <Synonym lang="en">ATF2</Synonym>
+              <Synonym lang="en">HFB1-GDNF</Synonym>
+              <Synonym lang="en">astrocyte-derived trophic factor</Synonym>
+              <Synonym lang="en">glial cell line derived neurotrophic factor</Synonym>
+              <Synonym lang="en">glial derived neurotrophic factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168621</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000171119</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153993</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33151932[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P36956</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Åland Islands eye disease</Name>
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+            <Name lang="en">calcium voltage-gated channel subunit alpha1 F</Name>
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+              <Synonym lang="en">CSNB2A</Synonym>
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+              <Synonym lang="en">Cav1.4</Synonym>
+              <Synonym lang="en">JM8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>531</Reference>
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+      <Name lang="en">NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+            <Name lang="en">glucose-6-phosphate dehydrogenase</Name>
+            <Symbol>G6PD</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">G6PD1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57610">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160211</Reference>
+              </ExternalReference>
+              <ExternalReference id="29641">
+                <Source>Genatlas</Source>
+                <Reference>G6PD</Reference>
+              </ExternalReference>
+              <ExternalReference id="29643">
+                <Source>HGNC</Source>
+                <Reference>4057</Reference>
+              </ExternalReference>
+              <ExternalReference id="29642">
+                <Source>OMIM</Source>
+                <Reference>305900</Reference>
+              </ExternalReference>
+              <ExternalReference id="57611">
+                <Source>Reactome</Source>
+                <Reference>P11413</Reference>
+              </ExternalReference>
+              <ExternalReference id="33102">
+                <Source>SwissProt</Source>
+                <Reference>P11413</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8617">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="671">
+      <OrphaCode>760</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=760</ExpertLink>
+      <Name lang="en">Purine nucleoside phosphorylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11453975[PMID]</SourceOfValidation>
+          <Gene id="16560">
+            <Name lang="en">purine nucleoside phosphorylase</Name>
+            <Symbol>PNP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PUNP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198805</Reference>
+              </ExternalReference>
+              <ExternalReference id="31869">
+                <Source>Genatlas</Source>
+                <Reference>NP</Reference>
+              </ExternalReference>
+              <ExternalReference id="31871">
+                <Source>HGNC</Source>
+                <Reference>7892</Reference>
+              </ExternalReference>
+              <ExternalReference id="31870">
+                <Source>OMIM</Source>
+                <Reference>164050</Reference>
+              </ExternalReference>
+              <ExternalReference id="57613">
+                <Source>Reactome</Source>
+                <Reference>P00491</Reference>
+              </ExternalReference>
+              <ExternalReference id="33625">
+                <Source>SwissProt</Source>
+                <Reference>P00491</Reference>
+              </ExternalReference>
+              <ExternalReference id="190381">
+                <Source>IUPHAR</Source>
+                <Reference>2841</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60171">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="664">
+      <OrphaCode>270</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=270</ExpertLink>
+      <Name lang="en">Oculopharyngeal muscular dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301305[PMID]</SourceOfValidation>
+          <Gene id="16602">
+            <Name lang="en">poly(A) binding protein nuclear 1</Name>
+            <Symbol>PABPN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PAB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57594">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100836</Reference>
+              </ExternalReference>
+              <ExternalReference id="32071">
+                <Source>Genatlas</Source>
+                <Reference>PABPN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="32073">
+                <Source>HGNC</Source>
+                <Reference>8565</Reference>
+              </ExternalReference>
+              <ExternalReference id="32072">
+                <Source>OMIM</Source>
+                <Reference>602279</Reference>
+              </ExternalReference>
+              <ExternalReference id="57595">
+                <Source>Reactome</Source>
+                <Reference>Q86U42</Reference>
+              </ExternalReference>
+              <ExternalReference id="33667">
+                <Source>SwissProt</Source>
+                <Reference>Q86U42</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9567">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="665">
+      <OrphaCode>244</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=244</ExpertLink>
+      <Name lang="en">Primary ciliary dyskinesia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="47">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25927852[PMID]</SourceOfValidation>
+          <Gene id="22981">
+            <Name lang="en">dynein axonemal heavy chain 1</Name>
+            <Symbol>DNAH1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DNAHC1</Synonym>
+              <Synonym lang="en">HDHC7</Synonym>
+              <Synonym lang="en">HL-11</Synonym>
+              <Synonym lang="en">HL11</Synonym>
+              <Synonym lang="en">XLHSRF-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91969">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114841</Reference>
+              </ExternalReference>
+              <ExternalReference id="91829">
+                <Source>Genatlas</Source>
+                <Reference>DNAH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="91827">
+                <Source>HGNC</Source>
+                <Reference>2940</Reference>
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+              <ExternalReference id="91828">
+                <Source>OMIM</Source>
+                <Reference>603332</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9P2D7</Reference>
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+                <GeneLocus>3p21.1</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31820119[PMID]</SourceOfValidation>
+          <Gene id="28929">
+            <Name lang="en">tetratricopeptide repeat domain 12</Name>
+            <Symbol>TTC12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ13859</Synonym>
+              <Synonym lang="en">FLJ20535</Synonym>
+              <Synonym lang="en">TPARM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="180410">
+                <Source>HGNC</Source>
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+              <ExternalReference id="180411">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149292</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H892</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610732</Reference>
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+                <GeneLocus>11q23.2</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31959991[PMID]</SourceOfValidation>
+          <Gene id="28937">
+            <Name lang="en">NIMA related kinase 10</Name>
+            <Symbol>NEK10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ32685</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163491</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6ZWH5</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2115</Reference>
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+                <Reference>618726</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28041644[PMID]</SourceOfValidation>
+          <Gene id="25099">
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+            <Symbol>DNAAF6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DNAAF6</Synonym>
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+              <Synonym lang="en">NYSAR97</Synonym>
+              <Synonym lang="en">TWISTER</Synonym>
+              <Synonym lang="en">dynein axonemal assembly factor 6</Synonym>
+              <Synonym lang="en">sarcoma antigen NY-SAR-97</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143412">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQM4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080572</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <SourceOfValidation>31636325[PMID]</SourceOfValidation>
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+            <Name lang="en">cilia and flagella associated protein 221</Name>
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+              <Synonym lang="en">PCDP1</Synonym>
+              <Synonym lang="en">flagellar associated protein 221 homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">primary ciliary dyskinesia 1 homolog (mouse)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163075</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q4G0U5</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31545650[PMID]</SourceOfValidation>
+          <Gene id="28481">
+            <Name lang="en">sperm flagellar 2</Name>
+            <Symbol>SPEF2</Symbol>
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+              <Synonym lang="en">FLJ23577</Synonym>
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+              <Synonym lang="en">cancer/testis antigen 122</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152582</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member B13</Name>
+            <Symbol>DNAJB13</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RSPH16A</Synonym>
+              <Synonym lang="en">TSARG6</Synonym>
+              <Synonym lang="en">radial spoke 16 homolog A (Chlamydomonas)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P59910</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187726</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27486780[PMID]</SourceOfValidation>
+          <Gene id="24008">
+            <Name lang="en">outer dynein arm docking complex subunit 4</Name>
+            <Symbol>ODAD4</Symbol>
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+              <Synonym lang="en">DKFZP434H0115</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96NG3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204815</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TTC25</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96NG3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25048963[PMID]</SourceOfValidation>
+          <Gene id="24693">
+            <Name lang="en">multiciliate differentiation and DNA synthesis associated cell cycle protein</Name>
+            <Symbol>MCIDAS</Symbol>
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+              <Synonym lang="en">MCI</Synonym>
+              <Synonym lang="en">multicilin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>40050</Reference>
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+                <Source>Reactome</Source>
+                <Reference>D6RGH6</Reference>
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+                <Reference>MCIDAS</Reference>
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+                <Reference>614086</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234602</Reference>
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+                <Source>SwissProt</Source>
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+            <LocusList count="1">
+              <Locus id="37851">
+                <GeneLocus>5q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30649222[PMID]</SourceOfValidation>
+          <Gene id="28067">
+            <Name lang="en">growth arrest specific 2 like 2</Name>
+            <Symbol>GAS2L2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GAR17</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="163067">
+                <Source>HGNC</Source>
+                <Reference>24846</Reference>
+              </ExternalReference>
+              <ExternalReference id="163068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000270765</Reference>
+              </ExternalReference>
+              <ExternalReference id="163069">
+                <Source>SwissProt</Source>
+                <Reference>Q8NHY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="163070">
+                <Source>Reactome</Source>
+                <Reference>Q8NHY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="163071">
+                <Source>OMIM</Source>
+                <Reference>611398</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51555">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16586">
+            <Name lang="en">OFD1 centriole and centriolar satellite protein</Name>
+            <Symbol>OFD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">71-7A</Synonym>
+              <Synonym lang="en">JBTS10</Synonym>
+              <Synonym lang="en">Joubert syndrome type 10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000046651</Reference>
+              </ExternalReference>
+              <ExternalReference id="31995">
+                <Source>Genatlas</Source>
+                <Reference>OFD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31997">
+                <Source>HGNC</Source>
+                <Reference>2567</Reference>
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+              <ExternalReference id="31996">
+                <Source>OMIM</Source>
+                <Reference>300170</Reference>
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+              <ExternalReference id="57604">
+                <Source>Reactome</Source>
+                <Reference>O75665</Reference>
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+              <ExternalReference id="33651">
+                <Source>SwissProt</Source>
+                <Reference>O75665</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22095">
+                <GeneLocus>Xp22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="15879">
+            <Name lang="en">dynein axonemal heavy chain 11</Name>
+            <Symbol>DNAH11</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CILD7</Synonym>
+              <Synonym lang="en">DNAHBL</Synonym>
+              <Synonym lang="en">DNAHC11</Synonym>
+              <Synonym lang="en">DNHBL</Synonym>
+              <Synonym lang="en">DPL11</Synonym>
+              <Synonym lang="en">Dnahc11</Synonym>
+              <Synonym lang="en">dynein, ciliary, heavy chain 11</Synonym>
+              <Synonym lang="en">dynein, heavy chain beta-like</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57598">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105877</Reference>
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+              <ExternalReference id="37430">
+                <Source>Genatlas</Source>
+                <Reference>DNAH11</Reference>
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+              <ExternalReference id="28620">
+                <Source>HGNC</Source>
+                <Reference>2942</Reference>
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+              <ExternalReference id="28619">
+                <Source>OMIM</Source>
+                <Reference>603339</Reference>
+              </ExternalReference>
+              <ExternalReference id="32890">
+                <Source>SwissProt</Source>
+                <Reference>Q96DT5</Reference>
+              </ExternalReference>
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+                <GeneLocus>7p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="15880">
+            <Name lang="en">dynein axonemal heavy chain 5</Name>
+            <Symbol>DNAH5</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CILD3</Synonym>
+              <Synonym lang="en">Dnahc5</Synonym>
+              <Synonym lang="en">HL1</Synonym>
+              <Synonym lang="en">KTGNR</Synonym>
+              <Synonym lang="en">PCD</Synonym>
+              <Synonym lang="en">dynein heavy chain 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57599">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000039139</Reference>
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+              <ExternalReference id="28626">
+                <Source>Genatlas</Source>
+                <Reference>DNAH5</Reference>
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+              <ExternalReference id="28624">
+                <Source>HGNC</Source>
+                <Reference>2950</Reference>
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+              <ExternalReference id="28623">
+                <Source>OMIM</Source>
+                <Reference>603335</Reference>
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+              <ExternalReference id="32891">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE73</Reference>
+              </ExternalReference>
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+                <GeneLocus>5p15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="15881">
+            <Name lang="en">dynein axonemal intermediate chain 1</Name>
+            <Symbol>DNAI1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CILD1</Synonym>
+              <Synonym lang="en">DIC1</Synonym>
+              <Synonym lang="en">PCD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="28629">
+                <Source>OMIM</Source>
+                <Reference>604366</Reference>
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+              <ExternalReference id="32892">
+                <Source>SwissProt</Source>
+                <Reference>Q9UI46</Reference>
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+              <ExternalReference id="57600">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122735</Reference>
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+              <ExternalReference id="28628">
+                <Source>Genatlas</Source>
+                <Reference>DNAI1</Reference>
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+              <ExternalReference id="37697">
+                <Source>HGNC</Source>
+                <Reference>2954</Reference>
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+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="16782">
+            <Name lang="en">NME/NM23 family member 8</Name>
+            <Symbol>NME8</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CILD6</Synonym>
+              <Synonym lang="en">DNAI8</Synonym>
+              <Synonym lang="en">NM23-H8</Synonym>
+              <Synonym lang="en">SPTRX2</Synonym>
+              <Synonym lang="en">Sperm-specific thioredoxin 2</Synonym>
+              <Synonym lang="en">sperm-specific thioredoxin 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57607">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000086288</Reference>
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+              <ExternalReference id="99986">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>16473</Reference>
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+              <ExternalReference id="34910">
+                <Source>OMIM</Source>
+                <Reference>607421</Reference>
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+              <ExternalReference id="34909">
+                <Source>SwissProt</Source>
+                <Reference>Q8N427</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="17880">
+            <Name lang="en">dynein axonemal intermediate chain 2</Name>
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+              <Synonym lang="en">CILD9</Synonym>
+              <Synonym lang="en">DIC2</Synonym>
+              <Synonym lang="en">dynein intermediate chain 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171595</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>18744</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605483</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9GZS0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="17897">
+            <Name lang="en">dynein axonemal assembly factor 2</Name>
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+              <Synonym lang="en">FLJ10563</Synonym>
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+              <Synonym lang="en">PF13</Synonym>
+              <Synonym lang="en">kintoun</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165506</Reference>
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+                <Reference>20188</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NVR5</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172426</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21057</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612648</Reference>
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+              <ExternalReference id="40686">
+                <Source>SwissProt</Source>
+                <Reference>Q9H1X1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
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+            <Name lang="en">radial spoke head component 4A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111834</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">ODA7</Synonym>
+              <Synonym lang="en">outer row dynein assembly 7 homolog (Chlamydomonas)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>30539</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="19500">
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="19501">
+            <Name lang="en">coiled-coil domain containing 40</Name>
+            <Symbol>CCDC40</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CFAP172</Synonym>
+              <Synonym lang="en">CILD15</Synonym>
+              <Synonym lang="en">FAP172</Synonym>
+              <Synonym lang="en">FLJ20753</Synonym>
+              <Synonym lang="en">FLJ32021</Synonym>
+              <Synonym lang="en">KIAA1640</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141519</Reference>
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+              <ExternalReference id="49872">
+                <Source>Genatlas</Source>
+                <Reference>CCDC40</Reference>
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+              <ExternalReference id="49873">
+                <Source>HGNC</Source>
+                <Reference>26090</Reference>
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+              <ExternalReference id="50809">
+                <Source>OMIM</Source>
+                <Reference>613799</Reference>
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+              <ExternalReference id="49874">
+                <Source>SwissProt</Source>
+                <Reference>Q4G0X9</Reference>
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+              <ExternalReference id="143961">
+                <Source>Reactome</Source>
+                <Reference>Q4G0X9</Reference>
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+            <LocusList count="1">
+              <Locus id="39391">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301301[PMID]</SourceOfValidation>
+          <Gene id="20163">
+            <Name lang="en">dynein axonemal light chain 1</Name>
+            <Symbol>DNAL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">1700010H15RiK</Synonym>
+              <Synonym lang="en">CILD16</Synonym>
+              <Synonym lang="en">MGC12435</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57609">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119661</Reference>
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+              <ExternalReference id="51785">
+                <Source>Genatlas</Source>
+                <Reference>DNAL1</Reference>
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+              <ExternalReference id="51783">
+                <Source>HGNC</Source>
+                <Reference>23247</Reference>
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+              <ExternalReference id="51784">
+                <Source>OMIM</Source>
+                <Reference>610062</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q4LDG9</Reference>
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+            <LocusList count="1">
+              <Locus id="11461">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22387996[PMID]_20301301[PMID]</SourceOfValidation>
+          <Gene id="21070">
+            <Name lang="en">dynein axonemal assembly factor 3</Name>
+            <Symbol>DNAAF3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ36139</Synonym>
+              <Synonym lang="en">FLJ40069</Synonym>
+              <Synonym lang="en">PCD</Synonym>
+              <Synonym lang="en">PF22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167646</Reference>
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+              <ExternalReference id="100004">
+                <Source>Genatlas</Source>
+                <Reference>DNAAF3</Reference>
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+              <ExternalReference id="61527">
+                <Source>HGNC</Source>
+                <Reference>30492</Reference>
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+              <ExternalReference id="61528">
+                <Source>OMIM</Source>
+                <Reference>614566</Reference>
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+              <ExternalReference id="61529">
+                <Source>SwissProt</Source>
+                <Reference>Q8N9W5</Reference>
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+            <LocusList count="1">
+              <Locus id="18957">
+                <GeneLocus>19q13.42</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22581229[PMID]_20301301[PMID]</SourceOfValidation>
+          <Gene id="21172">
+            <Name lang="en">coiled-coil domain containing 103</Name>
+            <Symbol>CCDC103</Symbol>
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+              <Synonym lang="en">CILD17</Synonym>
+              <Synonym lang="en">FLJ13094</Synonym>
+              <Synonym lang="en">FLJ34211</Synonym>
+              <Synonym lang="en">PR46b</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>Q8IW40</Reference>
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+              <ExternalReference id="83400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167131</Reference>
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+              <ExternalReference id="69701">
+                <Source>Genatlas</Source>
+                <Reference>CCDC103</Reference>
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+              <ExternalReference id="69699">
+                <Source>HGNC</Source>
+                <Reference>32700</Reference>
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+              <ExternalReference id="69700">
+                <Source>OMIM</Source>
+                <Reference>614677</Reference>
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+              <ExternalReference id="69702">
+                <Source>SwissProt</Source>
+                <Reference>Q8IW40</Reference>
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+            <LocusList count="1">
+              <Locus id="37853">
+                <GeneLocus>17q21.31</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23040496[PMID]_20301301[PMID]</SourceOfValidation>
+          <Gene id="21559">
+            <Name lang="en">dynein axonemal assembly factor 5</Name>
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+              <Synonym lang="en">CILD18</Synonym>
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+              <Synonym lang="en">FLJ25564</Synonym>
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+              <Synonym lang="en">FLJ39381</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83533">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164818</Reference>
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+              <ExternalReference id="74181">
+                <Source>Genatlas</Source>
+                <Reference>HEATR2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26013</Reference>
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+              <ExternalReference id="74180">
+                <Source>OMIM</Source>
+                <Reference>614864</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86Y56</Reference>
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+                <GeneLocus>7p22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23022101[PMID]_20301301[PMID]</SourceOfValidation>
+          <Gene id="21567">
+            <Name lang="en">HYDIN axonemal central pair apparatus protein</Name>
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+              <Synonym lang="en">'protein phosphatase 1, regulatory subunit 31'</Synonym>
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+              <Synonym lang="en">DKFZp434D0513</Synonym>
+              <Synonym lang="en">KIAA1864</Synonym>
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+              <Synonym lang="en">Protein phosphatase 1, regulatory subunit 31</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157423</Reference>
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+              <ExternalReference id="74561">
+                <Source>Genatlas</Source>
+                <Reference>HYDIN</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>610812</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q4G0P3</Reference>
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+                <GeneLocus>16q22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23122589[PMID]_20301301[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CILD19</Synonym>
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+              <Synonym lang="en">Leucine rich testes protein</Synonym>
+              <Synonym lang="en">TSLRP</Synonym>
+              <Synonym lang="en">leucine rich testes protein</Synonym>
+              <Synonym lang="en">seahorse</Synonym>
+              <Synonym lang="en">tilB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q86X45</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129295</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23261303[PMID]_23261302[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105479</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96M63</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23354437[PMID]</SourceOfValidation>
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+            <Name lang="en">dynein regulatory complex subunit 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157856</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">radial spoke head component 1</Name>
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+              <Synonym lang="en">RSPH10A</Synonym>
+              <Synonym lang="en">meichroacidin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000160188</Reference>
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+                <Source>SwissProt</Source>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23891471[PMID]_23891469[PMID]</SourceOfValidation>
+          <Gene id="22259">
+            <Name lang="en">zinc finger MYND-type containing 10</Name>
+            <Symbol>ZMYND10</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BLU</Synonym>
+              <Synonym lang="en">CILD22</Synonym>
+              <Synonym lang="en">DNAAF7</Synonym>
+              <Synonym lang="en">dynein axonemal assembly factor 7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004838</Reference>
+              </ExternalReference>
+              <ExternalReference id="80843">
+                <Source>Genatlas</Source>
+                <Reference>ZMYND10</Reference>
+              </ExternalReference>
+              <ExternalReference id="80841">
+                <Source>HGNC</Source>
+                <Reference>19412</Reference>
+              </ExternalReference>
+              <ExternalReference id="80842">
+                <Source>OMIM</Source>
+                <Reference>607070</Reference>
+              </ExternalReference>
+              <ExternalReference id="80844">
+                <Source>SwissProt</Source>
+                <Reference>O75800</Reference>
+              </ExternalReference>
+              <ExternalReference id="143834">
+                <Source>Reactome</Source>
+                <Reference>O75800</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39131">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24094744[PMID]</SourceOfValidation>
+          <Gene id="22416">
+            <Name lang="en">cilia and flagella associated protein 298</Name>
+            <Symbol>CFAP298</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CILD26</Synonym>
+              <Synonym lang="en">FBB18</Synonym>
+              <Synonym lang="en">FLJ20467</Synonym>
+              <Synonym lang="en">Kur</Synonym>
+              <Synonym lang="en">kurly homolog (zebrafish)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159079</Reference>
+              </ExternalReference>
+              <ExternalReference id="82093">
+                <Source>Genatlas</Source>
+                <Reference>C21orf59</Reference>
+              </ExternalReference>
+              <ExternalReference id="82091">
+                <Source>HGNC</Source>
+                <Reference>1301</Reference>
+              </ExternalReference>
+              <ExternalReference id="82092">
+                <Source>OMIM</Source>
+                <Reference>615494</Reference>
+              </ExternalReference>
+              <ExternalReference id="82094">
+                <Source>SwissProt</Source>
+                <Reference>P57076</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14109">
+                <GeneLocus>21q22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24094744[PMID]</SourceOfValidation>
+          <Gene id="22417">
+            <Name lang="en">coiled-coil domain containing 65</Name>
+            <Symbol>CCDC65</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CFAP250</Synonym>
+              <Synonym lang="en">CILD27</Synonym>
+              <Synonym lang="en">DRC2</Synonym>
+              <Synonym lang="en">FAP250</Synonym>
+              <Synonym lang="en">FLJ35732</Synonym>
+              <Synonym lang="en">NYD-SP28</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84040">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139537</Reference>
+              </ExternalReference>
+              <ExternalReference id="82098">
+                <Source>Genatlas</Source>
+                <Reference>CCDC65</Reference>
+              </ExternalReference>
+              <ExternalReference id="82096">
+                <Source>HGNC</Source>
+                <Reference>29937</Reference>
+              </ExternalReference>
+              <ExternalReference id="82097">
+                <Source>OMIM</Source>
+                <Reference>611088</Reference>
+              </ExternalReference>
+              <ExternalReference id="82099">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXS2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12857">
+                <GeneLocus>12q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24055112[PMID]</SourceOfValidation>
+          <Gene id="22418">
+            <Name lang="en">sperm associated antigen 1</Name>
+            <Symbol>SPAG1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CILD28</Synonym>
+              <Synonym lang="en">CT140</Synonym>
+              <Synonym lang="en">DNAAF13</Synonym>
+              <Synonym lang="en">FLJ32920</Synonym>
+              <Synonym lang="en">HSD-3.8</Synonym>
+              <Synonym lang="en">SP75</Synonym>
+              <Synonym lang="en">TPIS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84041">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104450</Reference>
+              </ExternalReference>
+              <ExternalReference id="82103">
+                <Source>Genatlas</Source>
+                <Reference>SPAG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="82101">
+                <Source>HGNC</Source>
+                <Reference>11212</Reference>
+              </ExternalReference>
+              <ExternalReference id="82102">
+                <Source>OMIM</Source>
+                <Reference>603395</Reference>
+              </ExternalReference>
+              <ExternalReference id="82104">
+                <Source>SwissProt</Source>
+                <Reference>Q07617</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20759">
+                <GeneLocus>8q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24747639[PMID]_24824133[PMID]</SourceOfValidation>
+          <Gene id="22906">
+            <Name lang="en">cyclin O</Name>
+            <Symbol>CCNO</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ22422</Synonym>
+              <Synonym lang="en">UDG2</Synonym>
+              <Synonym lang="en">UNG2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152669</Reference>
+              </ExternalReference>
+              <ExternalReference id="90431">
+                <Source>Genatlas</Source>
+                <Reference>CCNO</Reference>
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+              <ExternalReference id="90429">
+                <Source>HGNC</Source>
+                <Reference>18576</Reference>
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+              <ExternalReference id="90430">
+                <Source>OMIM</Source>
+                <Reference>607752</Reference>
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+              <ExternalReference id="91626">
+                <Source>Reactome</Source>
+                <Reference>P22674</Reference>
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+              <ExternalReference id="90432">
+                <Source>SwissProt</Source>
+                <Reference>P22674</Reference>
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+            <LocusList count="1">
+              <Locus id="13221">
+                <GeneLocus>5q11.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25192045[PMID]</SourceOfValidation>
+          <Gene id="23009">
+            <Name lang="en">outer dynein arm docking complex subunit 3</Name>
+            <Symbol>ODAD3</Symbol>
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+              <Synonym lang="en">MGC20983</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="94659">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198003</Reference>
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+              <ExternalReference id="94974">
+                <Source>Genatlas</Source>
+                <Reference>CCDC151</Reference>
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+              <ExternalReference id="94657">
+                <Source>HGNC</Source>
+                <Reference>28303</Reference>
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+              <ExternalReference id="94656">
+                <Source>OMIM</Source>
+                <Reference>615956</Reference>
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+              <ExternalReference id="94658">
+                <Source>SwissProt</Source>
+                <Reference>A5D8V7</Reference>
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+              <ExternalReference id="143806">
+                <Source>Reactome</Source>
+                <Reference>A5D8V7</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19p13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26073779[PMID]</SourceOfValidation>
+          <Gene id="23300">
+            <Name lang="en">radial spoke head 3</Name>
+            <Symbol>RSPH3</Symbol>
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+              <Synonym lang="en">dJ111C20.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143052">
+                <Source>Reactome</Source>
+                <Reference>Q86UC2</Reference>
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+              <ExternalReference id="96081">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130363</Reference>
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+              <ExternalReference id="96079">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="96077">
+                <Source>HGNC</Source>
+                <Reference>21054</Reference>
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+              <ExternalReference id="96078">
+                <Source>OMIM</Source>
+                <Reference>615876</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UC2</Reference>
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+                <GeneLocus>6q25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26387594[PMID]</SourceOfValidation>
+          <Gene id="23429">
+            <Name lang="en">growth arrest specific 8</Name>
+            <Symbol>GAS8</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141013</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="96854">
+                <Source>HGNC</Source>
+                <Reference>4166</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605178</Reference>
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+              <ExternalReference id="96858">
+                <Source>Reactome</Source>
+                <Reference>O95995</Reference>
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+              <ExternalReference id="96857">
+                <Source>SwissProt</Source>
+                <Reference>O95995</Reference>
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+              <Locus id="16405">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15226">
+            <Name lang="en">retinitis pigmentosa GTPase regulator</Name>
+            <Symbol>RPGR</Symbol>
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+              <Synonym lang="en">CORDX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143942">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156313</Reference>
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+              <ExternalReference id="25503">
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+                <Reference>RPGR</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="33784">
+                <Source>SwissProt</Source>
+                <Reference>Q92834</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28543983[PMID]</SourceOfValidation>
+          <Gene id="25559">
+            <Name lang="en">serine/threonine kinase 36</Name>
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+            <SynonymList count="3">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="145772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163482</Reference>
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+              <ExternalReference id="145773">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRP7</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="145776">
+                <Source>Reactome</Source>
+                <Reference>Q9NRP7</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="27070">
+            <Name lang="en">forkhead box J1</Name>
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+                <Source>Reactome</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30471717[PMID]_30471718[PMID]</SourceOfValidation>
+          <Gene id="28024">
+            <Name lang="en">dynein axonemal heavy chain 9</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007174</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NYC9</Reference>
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+                <Reference>603330</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30388400[PMID]</SourceOfValidation>
+          <Gene id="27774">
+            <Name lang="en">leucine rich repeat containing 56</Name>
+            <Symbol>LRRC56</Symbol>
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+              <Synonym lang="en">FLJ00101</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="161535">
+                <Source>HGNC</Source>
+                <Reference>25430</Reference>
+              </ExternalReference>
+              <ExternalReference id="161536">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161328</Reference>
+              </ExternalReference>
+              <ExternalReference id="161537">
+                <Source>SwissProt</Source>
+                <Reference>Q8IYG6</Reference>
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+              <ExternalReference id="161538">
+                <Source>OMIM</Source>
+                <Reference>618227</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50245">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29727692[PMID]_29727693[PMID]</SourceOfValidation>
+          <Gene id="27134">
+            <Name lang="en">cilia and flagella associated protein 300</Name>
+            <Symbol>CFAP300</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FBB5</Synonym>
+              <Synonym lang="en">MGC13040</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="158423">
+                <Source>HGNC</Source>
+                <Reference>28188</Reference>
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+              <ExternalReference id="158424">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137691</Reference>
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+              <ExternalReference id="158425">
+                <Source>SwissProt</Source>
+                <Reference>Q9BRQ4</Reference>
+              </ExternalReference>
+              <ExternalReference id="158426">
+                <Source>Genatlas</Source>
+                <Reference>CFAP300</Reference>
+              </ExternalReference>
+              <ExternalReference id="191545">
+                <Source>OMIM</Source>
+                <Reference>618058</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="62499">
+                <GeneLocus>11q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18010">
+      <OrphaCode>178307</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178307</ExpertLink>
+      <Name lang="en">Reticulate acropigmentation of Kitamura</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23666529[PMID]</SourceOfValidation>
+          <Gene id="22244">
+            <Name lang="en">ADAM metallopeptidase domain 10</Name>
+            <Symbol>ADAM10</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD156C</Synonym>
+              <Synonym lang="en">CD156c</Synonym>
+              <Synonym lang="en">HsT18717</Synonym>
+              <Synonym lang="en">MADM</Synonym>
+              <Synonym lang="en">kuz</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83926">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137845</Reference>
+              </ExternalReference>
+              <ExternalReference id="80580">
+                <Source>Genatlas</Source>
+                <Reference>ADAM10</Reference>
+              </ExternalReference>
+              <ExternalReference id="80578">
+                <Source>HGNC</Source>
+                <Reference>188</Reference>
+              </ExternalReference>
+              <ExternalReference id="83927">
+                <Source>IUPHAR</Source>
+                <Reference>1658</Reference>
+              </ExternalReference>
+              <ExternalReference id="80579">
+                <Source>OMIM</Source>
+                <Reference>602192</Reference>
+              </ExternalReference>
+              <ExternalReference id="83925">
+                <Source>Reactome</Source>
+                <Reference>O14672</Reference>
+              </ExternalReference>
+              <ExternalReference id="80581">
+                <Source>SwissProt</Source>
+                <Reference>O14672</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>15q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+        </DisorderGeneAssociation>
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+    <Disorder id="660">
+      <OrphaCode>805</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=805</ExpertLink>
+      <Name lang="en">Tuberous sclerosis complex</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12192641[PMID]</SourceOfValidation>
+          <Gene id="16241">
+            <Name lang="en">interferon gamma</Name>
+            <Symbol>IFNG</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111537</Reference>
+              </ExternalReference>
+              <ExternalReference id="37488">
+                <Source>Genatlas</Source>
+                <Reference>IFNG</Reference>
+              </ExternalReference>
+              <ExternalReference id="30383">
+                <Source>HGNC</Source>
+                <Reference>5438</Reference>
+              </ExternalReference>
+              <ExternalReference id="30382">
+                <Source>OMIM</Source>
+                <Reference>147570</Reference>
+              </ExternalReference>
+              <ExternalReference id="58916">
+                <Source>Reactome</Source>
+                <Reference>P01579</Reference>
+              </ExternalReference>
+              <ExternalReference id="33305">
+                <Source>SwissProt</Source>
+                <Reference>P01579</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>12q15</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301399[PMID]</SourceOfValidation>
+          <Gene id="15668">
+            <Name lang="en">TSC complex subunit 1</Name>
+            <Symbol>TSC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0243</Synonym>
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">hamartin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165699</Reference>
+              </ExternalReference>
+              <ExternalReference id="27627">
+                <Source>Genatlas</Source>
+                <Reference>TSC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27629">
+                <Source>HGNC</Source>
+                <Reference>12362</Reference>
+              </ExternalReference>
+              <ExternalReference id="27628">
+                <Source>OMIM</Source>
+                <Reference>605284</Reference>
+              </ExternalReference>
+              <ExternalReference id="57591">
+                <Source>Reactome</Source>
+                <Reference>Q92574</Reference>
+              </ExternalReference>
+              <ExternalReference id="32640">
+                <Source>SwissProt</Source>
+                <Reference>Q92574</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>9q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301399[PMID]</SourceOfValidation>
+          <Gene id="15669">
+            <Name lang="en">TSC complex subunit 2</Name>
+            <Symbol>TSC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">PPP1R160</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 160</Synonym>
+              <Synonym lang="en">tuberin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27632">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57593">
+                <Source>Reactome</Source>
+                <Reference>P49815</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49815</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103197</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TSC2</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>12363</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="18007">
+      <OrphaCode>178145</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=178145</ExpertLink>
+      <Name lang="en">Moderate multiminicore disease with hand involvement</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301467[PMID]_12112081[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
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+                <Reference>747</Reference>
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+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
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+                <Reference>P21817</Reference>
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+      <Name lang="en">Retinitis pigmentosa</Name>
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+          <Gene id="25905">
+            <Name lang="en">S-phase cyclin A associated protein in the ER</Name>
+            <Symbol>SCAPER</Symbol>
+            <SynonymList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>13081</Reference>
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+              <ExternalReference id="150507">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140386</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BY12</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611611</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SCAPER</Reference>
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+          <SourceOfValidation>29978320[PMID]</SourceOfValidation>
+          <Gene id="25535">
+            <Name lang="en">intraflagellar transport 88</Name>
+            <Symbol>IFT88</Symbol>
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+              <Synonym lang="en">D13S1056E</Synonym>
+              <Synonym lang="en">MGC26259</Synonym>
+              <Synonym lang="en">Tg737</Synonym>
+              <Synonym lang="en">hTg737</Synonym>
+              <Synonym lang="en">polaris homolog</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>20606</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000032742</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13099</Reference>
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+                <Reference>600595</Reference>
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+          <SourceOfValidation>27889058[PMID]</SourceOfValidation>
+          <Gene id="25295">
+            <Name lang="en">receptor accessory protein 6</Name>
+            <Symbol>REEP6</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP1L1</Synonym>
+              <Synonym lang="en">FLJ25383</Synonym>
+              <Synonym lang="en">Yip2f</Synonym>
+              <Synonym lang="en">deleted in polyposis 1-like 1</Synonym>
+              <Synonym lang="en">polyposis locus protein 1-like 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="141054">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115255</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>REEP6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96HR9</Reference>
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+                <Reference>R-HSA-8939719</Reference>
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+          <SourceOfValidation>28132693[PMID]</SourceOfValidation>
+          <Gene id="25321">
+            <Name lang="en">Rho/Rac guanine nucleotide exchange factor 18</Name>
+            <Symbol>ARHGEF18</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA0521</Synonym>
+              <Synonym lang="en">MGC15913</Synonym>
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+              <Synonym lang="en">Rho-specific guanine nucleotide exchange factor p114</Synonym>
+              <Synonym lang="en">p114RhoGEF</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>17090</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104880</Reference>
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+                <Reference>Q6ZSZ5</Reference>
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+                <Source>OMIM</Source>
+                <Reference>616432</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ARHGEF18</Reference>
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+                <Reference>R-HSA-195104</Reference>
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+                <GeneLocus>19p13.2</GeneLocus>
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+          <SourceOfValidation>33910932[PMID]</SourceOfValidation>
+          <Gene id="15352">
+            <Name lang="en">Bardet-Biedl syndrome 1</Name>
+            <Symbol>BBS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ23590</Synonym>
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+                <Source>OMIM</Source>
+                <Reference>180380</Reference>
+              </ExternalReference>
+              <ExternalReference id="57576">
+                <Source>Reactome</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="33769">
+                <Source>SwissProt</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="193555">
+                <Source>IUPHAR</Source>
+                <Reference>2963</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66519">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15213">
+            <Name lang="en">retinaldehyde binding protein 1</Name>
+            <Symbol>RLBP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRALBP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57568">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140522</Reference>
+              </ExternalReference>
+              <ExternalReference id="25445">
+                <Source>Genatlas</Source>
+                <Reference>RLBP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25443">
+                <Source>HGNC</Source>
+                <Reference>10024</Reference>
+              </ExternalReference>
+              <ExternalReference id="25442">
+                <Source>OMIM</Source>
+                <Reference>180090</Reference>
+              </ExternalReference>
+              <ExternalReference id="82761">
+                <Source>Reactome</Source>
+                <Reference>P12271</Reference>
+              </ExternalReference>
+              <ExternalReference id="33771">
+                <Source>SwissProt</Source>
+                <Reference>P12271</Reference>
+              </ExternalReference>
+              <ExternalReference id="193557">
+                <Source>IUPHAR</Source>
+                <Reference>2545</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66523">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15220">
+            <Name lang="en">retinal outer segment membrane protein 1</Name>
+            <Symbol>ROM1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ROM</Synonym>
+              <Synonym lang="en">TSPAN23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="25474">
+                <Source>OMIM</Source>
+                <Reference>180721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33778">
+                <Source>SwissProt</Source>
+                <Reference>Q03395</Reference>
+              </ExternalReference>
+              <ExternalReference id="57566">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149489</Reference>
+              </ExternalReference>
+              <ExternalReference id="37336">
+                <Source>Genatlas</Source>
+                <Reference>ROM1</Reference>
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+              <ExternalReference id="25475">
+                <Source>HGNC</Source>
+                <Reference>10254</Reference>
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+            <LocusList count="1">
+              <Locus id="69355">
+                <GeneLocus>11q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15222">
+            <Name lang="en">RP1 axonemal microtubule associated</Name>
+            <Symbol>RP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DCDC4A</Synonym>
+              <Synonym lang="en">ORP1</Synonym>
+              <Synonym lang="en">doublecortin domain containing 4A</Synonym>
+              <Synonym lang="en">oxygen-regulated protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57569">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104237</Reference>
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+              <ExternalReference id="25483">
+                <Source>Genatlas</Source>
+                <Reference>RP1</Reference>
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+              <ExternalReference id="25485">
+                <Source>HGNC</Source>
+                <Reference>10263</Reference>
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+              <ExternalReference id="25484">
+                <Source>OMIM</Source>
+                <Reference>603937</Reference>
+              </ExternalReference>
+              <ExternalReference id="33780">
+                <Source>SwissProt</Source>
+                <Reference>P56715</Reference>
+              </ExternalReference>
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+                <GeneLocus>8q11.23-q12.1</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15223">
+            <Name lang="en">RP2 activator of ARL3 GTPase</Name>
+            <Symbol>RP2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NM23-H10</Synonym>
+              <Synonym lang="en">NME10</Synonym>
+              <Synonym lang="en">TBCCD2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57570">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25491">
+                <Source>Genatlas</Source>
+                <Reference>RP2</Reference>
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+              <ExternalReference id="25489">
+                <Source>HGNC</Source>
+                <Reference>10274</Reference>
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+              <ExternalReference id="40657">
+                <Source>OMIM</Source>
+                <Reference>300757</Reference>
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+              <ExternalReference id="97163">
+                <Source>Reactome</Source>
+                <Reference>O75695</Reference>
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+              <ExternalReference id="33781">
+                <Source>SwissProt</Source>
+                <Reference>O75695</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>Xp11.3</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15224">
+            <Name lang="en">RP9 pre-mRNA splicing factor</Name>
+            <Symbol>RP9</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PAP-1</Synonym>
+              <Synonym lang="en">Pim-1 kinase associated protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57571">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164610</Reference>
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+              <ExternalReference id="25493">
+                <Source>Genatlas</Source>
+                <Reference>RP9</Reference>
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+              <ExternalReference id="25495">
+                <Source>HGNC</Source>
+                <Reference>10288</Reference>
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+              <ExternalReference id="25494">
+                <Source>OMIM</Source>
+                <Reference>607331</Reference>
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+              <ExternalReference id="33782">
+                <Source>SwissProt</Source>
+                <Reference>Q8TA86</Reference>
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+              <ExternalReference id="143809">
+                <Source>Reactome</Source>
+                <Reference>Q8TA86</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15225">
+            <Name lang="en">retinoid isomerohydrolase RPE65</Name>
+            <Symbol>RPE65</Symbol>
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+              <Synonym lang="en">BCO3</Synonym>
+              <Synonym lang="en">LCA2</Synonym>
+              <Synonym lang="en">all-trans-retinyl-palmitate hydrolase</Synonym>
+              <Synonym lang="en">rd12</Synonym>
+              <Synonym lang="en">retinol isomerase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57567">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116745</Reference>
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+              <ExternalReference id="25501">
+                <Source>Genatlas</Source>
+                <Reference>RPE65</Reference>
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+              <ExternalReference id="25499">
+                <Source>HGNC</Source>
+                <Reference>10294</Reference>
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+              <ExternalReference id="25498">
+                <Source>OMIM</Source>
+                <Reference>180069</Reference>
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+              <ExternalReference id="82763">
+                <Source>Reactome</Source>
+                <Reference>Q16518</Reference>
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+              <ExternalReference id="33783">
+                <Source>SwissProt</Source>
+                <Reference>Q16518</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15226">
+            <Name lang="en">retinitis pigmentosa GTPase regulator</Name>
+            <Symbol>RPGR</Symbol>
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+              <Synonym lang="en">CORDX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143942">
+                <Source>Reactome</Source>
+                <Reference>Q92834</Reference>
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+              <ExternalReference id="57572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156313</Reference>
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+              <ExternalReference id="25503">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10295</Reference>
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+              <ExternalReference id="25504">
+                <Source>OMIM</Source>
+                <Reference>312610</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92834</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15240">
+            <Name lang="en">S-antigen visual arrestin</Name>
+            <Symbol>SAG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARRESTIN</Synonym>
+              <Synonym lang="en">RP47</Synonym>
+              <Synonym lang="en">arrestin 1</Synonym>
+              <Synonym lang="en">rod arrestin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57577">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130561</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10521</Reference>
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+                <Source>OMIM</Source>
+                <Reference>181031</Reference>
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+              <ExternalReference id="82768">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10523</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25541840[PMID]</SourceOfValidation>
+          <Gene id="15354">
+            <Name lang="en">Bardet-Biedl syndrome 2</Name>
+            <Symbol>BBS2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>967</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606151</Reference>
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+              <ExternalReference id="97174">
+                <Source>Reactome</Source>
+                <Reference>Q9BXC9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BXC9</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15368">
+            <Name lang="en">bestrophin 1</Name>
+            <Symbol>BEST1</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">Best disease</Synonym>
+              <Synonym lang="en">RP50</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>O76090</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O76090</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15389">
+            <Name lang="en">carbonic anhydrase 4</Name>
+            <Symbol>CA4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>2599</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114760</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15434">
+            <Name lang="en">ceramide kinase like</Name>
+            <Symbol>CERKL</Symbol>
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+                <Source>HGNC</Source>
+                <Reference>21699</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608381</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15671">
+            <Name lang="en">tetratricopeptide repeat domain 8</Name>
+            <Symbol>TTC8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BBS8</Synonym>
+              <Synonym lang="en">RP51</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57583">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165533</Reference>
+              </ExternalReference>
+              <ExternalReference id="27645">
+                <Source>Genatlas</Source>
+                <Reference>TTC8</Reference>
+              </ExternalReference>
+              <ExternalReference id="27643">
+                <Source>HGNC</Source>
+                <Reference>20087</Reference>
+              </ExternalReference>
+              <ExternalReference id="27642">
+                <Source>OMIM</Source>
+                <Reference>608132</Reference>
+              </ExternalReference>
+              <ExternalReference id="97193">
+                <Source>Reactome</Source>
+                <Reference>Q8TAM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32643">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAM2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16633">
+                <GeneLocus>14q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15675">
+            <Name lang="en">TUB like protein 1</Name>
+            <Symbol>TULP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LCA15</Synonym>
+              <Synonym lang="en">TUBL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143956">
+                <Source>Reactome</Source>
+                <Reference>O00294</Reference>
+              </ExternalReference>
+              <ExternalReference id="57585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112041</Reference>
+              </ExternalReference>
+              <ExternalReference id="27665">
+                <Source>Genatlas</Source>
+                <Reference>TULP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27663">
+                <Source>HGNC</Source>
+                <Reference>12423</Reference>
+              </ExternalReference>
+              <ExternalReference id="27662">
+                <Source>OMIM</Source>
+                <Reference>602280</Reference>
+              </ExternalReference>
+              <ExternalReference id="32647">
+                <Source>SwissProt</Source>
+                <Reference>O00294</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39381">
+                <GeneLocus>6p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15702">
+            <Name lang="en">usherin</Name>
+            <Symbol>USH2A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RP39</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="27790">
+                <Source>HGNC</Source>
+                <Reference>12601</Reference>
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+              <ExternalReference id="27789">
+                <Source>OMIM</Source>
+                <Reference>608400</Reference>
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+              <ExternalReference id="32674">
+                <Source>SwissProt</Source>
+                <Reference>O75445</Reference>
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+              <ExternalReference id="57586">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000042781</Reference>
+              </ExternalReference>
+              <ExternalReference id="27788">
+                <Source>Genatlas</Source>
+                <Reference>USH2A</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7891">
+                <GeneLocus>1q41</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15755">
+            <Name lang="en">clarin 1</Name>
+            <Symbol>CLRN1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57527">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163646</Reference>
+              </ExternalReference>
+              <ExternalReference id="36498">
+                <Source>Genatlas</Source>
+                <Reference>CLRN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28032">
+                <Source>HGNC</Source>
+                <Reference>12605</Reference>
+              </ExternalReference>
+              <ExternalReference id="28031">
+                <Source>OMIM</Source>
+                <Reference>606397</Reference>
+              </ExternalReference>
+              <ExternalReference id="32727">
+                <Source>SwissProt</Source>
+                <Reference>P58418</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>3q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15757">
+            <Name lang="en">cyclic nucleotide gated channel subunit alpha 1</Name>
+            <Symbol>CNGA1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CNG1</Synonym>
+              <Synonym lang="en">RCNC1</Synonym>
+              <Synonym lang="en">RCNCa</Synonym>
+              <Synonym lang="en">RP49</Synonym>
+              <Synonym lang="en">cGMP-gated cation channel alpha-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198515</Reference>
+              </ExternalReference>
+              <ExternalReference id="28040">
+                <Source>Genatlas</Source>
+                <Reference>CNGA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28042">
+                <Source>HGNC</Source>
+                <Reference>2148</Reference>
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+              <ExternalReference id="82858">
+                <Source>IUPHAR</Source>
+                <Reference>394</Reference>
+              </ExternalReference>
+              <ExternalReference id="28041">
+                <Source>OMIM</Source>
+                <Reference>123825</Reference>
+              </ExternalReference>
+              <ExternalReference id="82857">
+                <Source>Reactome</Source>
+                <Reference>P29973</Reference>
+              </ExternalReference>
+              <ExternalReference id="32729">
+                <Source>SwissProt</Source>
+                <Reference>P29973</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7991">
+                <GeneLocus>4p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15798">
+            <Name lang="en">crumbs cell polarity complex component 1</Name>
+            <Symbol>CRB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LCA8</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134376</Reference>
+              </ExternalReference>
+              <ExternalReference id="28240">
+                <Source>Genatlas</Source>
+                <Reference>CRB1</Reference>
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+              <ExternalReference id="28242">
+                <Source>HGNC</Source>
+                <Reference>2343</Reference>
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+              <ExternalReference id="28241">
+                <Source>OMIM</Source>
+                <Reference>604210</Reference>
+              </ExternalReference>
+              <ExternalReference id="32770">
+                <Source>SwissProt</Source>
+                <Reference>P82279</Reference>
+              </ExternalReference>
+              <ExternalReference id="143962">
+                <Source>Reactome</Source>
+                <Reference>P82279</Reference>
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+                <GeneLocus>1q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15803">
+            <Name lang="en">cone-rod homeobox</Name>
+            <Symbol>CRX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CRD</Synonym>
+              <Synonym lang="en">LCA7</Synonym>
+              <Synonym lang="en">OTX3</Synonym>
+              <Synonym lang="en">orthodenticle homeobox 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143923">
+                <Source>Reactome</Source>
+                <Reference>O43186</Reference>
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+              <ExternalReference id="57528">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105392</Reference>
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+              <ExternalReference id="28264">
+                <Source>Genatlas</Source>
+                <Reference>CRX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2383</Reference>
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+              <ExternalReference id="28265">
+                <Source>OMIM</Source>
+                <Reference>602225</Reference>
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+              <ExternalReference id="32814">
+                <Source>SwissProt</Source>
+                <Reference>O43186</Reference>
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+                <GeneLocus>19q13.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="15949">
+            <Name lang="en">ADP ribosylation factor like GTPase 6</Name>
+            <Symbol>ARL6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RP55</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57518">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113966</Reference>
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+              <ExternalReference id="28947">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>13210</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608845</Reference>
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+              <ExternalReference id="97211">
+                <Source>Reactome</Source>
+                <Reference>Q9H0F7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H0F7</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="16075">
+            <Name lang="en">fascin actin-bundling protein 2, retinal</Name>
+            <Symbol>FSCN2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RFSN</Synonym>
+              <Synonym lang="en">RP30</Synonym>
+              <Synonym lang="en">retinal fascin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57536">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186765</Reference>
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+              <ExternalReference id="29587">
+                <Source>Genatlas</Source>
+                <Reference>FSCN2</Reference>
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+              <ExternalReference id="29585">
+                <Source>HGNC</Source>
+                <Reference>3960</Reference>
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+              <ExternalReference id="29584">
+                <Source>OMIM</Source>
+                <Reference>607643</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14926</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25859010[PMID]</SourceOfValidation>
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+            <Name lang="en">heparan-alpha-glucosaminide N-acetyltransferase</Name>
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+              <Synonym lang="en">FLJ32731</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33215">
+                <Source>SwissProt</Source>
+                <Reference>Q68CP4</Reference>
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+              <ExternalReference id="59330">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165102</Reference>
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+                <Reference>HGSNAT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26527</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97227">
+                <Source>Reactome</Source>
+                <Reference>Q68CP4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="16259">
+            <Name lang="en">inosine monophosphate dehydrogenase 1</Name>
+            <Symbol>IMPDH1</Symbol>
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+              <Synonym lang="en">LCA11</Synonym>
+              <Synonym lang="en">sWSS2608</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106348</Reference>
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+              <ExternalReference id="30468">
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+                <Source>HGNC</Source>
+                <Reference>6052</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2624</Reference>
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+                <Source>OMIM</Source>
+                <Reference>146690</Reference>
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+              <ExternalReference id="57539">
+                <Source>Reactome</Source>
+                <Reference>P20839</Reference>
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+              <ExternalReference id="33324">
+                <Source>SwissProt</Source>
+                <Reference>P20839</Reference>
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+                <GeneLocus>7q32.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="16391">
+            <Name lang="en">MER proto-oncogene, tyrosine kinase</Name>
+            <Symbol>MERTK</Symbol>
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+              <Synonym lang="en">Tyro12</Synonym>
+              <Synonym lang="en">c-Eyk</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153208</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7027</Reference>
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+              <ExternalReference id="82992">
+                <Source>IUPHAR</Source>
+                <Reference>1837</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604705</Reference>
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+              <ExternalReference id="57522">
+                <Source>Reactome</Source>
+                <Reference>Q12866</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16571">
+            <Name lang="en">nuclear receptor subfamily 2 group E member 3</Name>
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+              <Synonym lang="en">rd7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000278570</Reference>
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+              <ExternalReference id="31926">
+                <Source>Genatlas</Source>
+                <Reference>NR2E3</Reference>
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+              <ExternalReference id="31924">
+                <Source>HGNC</Source>
+                <Reference>7974</Reference>
+              </ExternalReference>
+              <ExternalReference id="83013">
+                <Source>IUPHAR</Source>
+                <Reference>616</Reference>
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+              <ExternalReference id="31923">
+                <Source>OMIM</Source>
+                <Reference>604485</Reference>
+              </ExternalReference>
+              <ExternalReference id="57549">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5X4</Reference>
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+              <ExternalReference id="33636">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5X4</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="16575">
+            <Name lang="en">neural retina leucine zipper</Name>
+            <Symbol>NRL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">D14S46E</Synonym>
+              <Synonym lang="en">NRL-MAF</Synonym>
+              <Synonym lang="en">RP27</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57546">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129535</Reference>
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+              <ExternalReference id="31946">
+                <Source>Genatlas</Source>
+                <Reference>NRL</Reference>
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+              <ExternalReference id="31944">
+                <Source>HGNC</Source>
+                <Reference>8002</Reference>
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+                <Source>OMIM</Source>
+                <Reference>162080</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P54845</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>14q11.2-q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22619378[PMID]</SourceOfValidation>
+          <Gene id="16586">
+            <Name lang="en">OFD1 centriole and centriolar satellite protein</Name>
+            <Symbol>OFD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">71-7A</Synonym>
+              <Synonym lang="en">JBTS10</Synonym>
+              <Synonym lang="en">Joubert syndrome type 10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000046651</Reference>
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+              <ExternalReference id="31995">
+                <Source>Genatlas</Source>
+                <Reference>OFD1</Reference>
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+              <ExternalReference id="31997">
+                <Source>HGNC</Source>
+                <Reference>2567</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300170</Reference>
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+              <ExternalReference id="57604">
+                <Source>Reactome</Source>
+                <Reference>O75665</Reference>
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+              <ExternalReference id="33651">
+                <Source>SwissProt</Source>
+                <Reference>O75665</Reference>
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+                <GeneLocus>Xp22.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="16627">
+            <Name lang="en">phosphodiesterase 6A</Name>
+            <Symbol>PDE6A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RP43</Synonym>
+              <Synonym lang="en">Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha</Synonym>
+              <Synonym lang="en">retinitis pigmentosa type 43</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190392">
+                <Source>IUPHAR</Source>
+                <Reference>1312</Reference>
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+              <ExternalReference id="57557">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132915</Reference>
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+              <ExternalReference id="32189">
+                <Source>Genatlas</Source>
+                <Reference>PDE6A</Reference>
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+              <ExternalReference id="32191">
+                <Source>HGNC</Source>
+                <Reference>8785</Reference>
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+              <ExternalReference id="32190">
+                <Source>OMIM</Source>
+                <Reference>180071</Reference>
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+              <ExternalReference id="57558">
+                <Source>Reactome</Source>
+                <Reference>P16499</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16499</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
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+            <Name lang="en">phosphodiesterase 6B</Name>
+            <Symbol>PDE6B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CSNB3</Synonym>
+              <Synonym lang="en">CSNBAD2</Synonym>
+              <Synonym lang="en">RP40</Synonym>
+              <Synonym lang="en">congenital stationary night blindness 3, autosomal dominant</Synonym>
+              <Synonym lang="en">rd1</Synonym>
+              <Synonym lang="en">rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133256</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PDE6B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8786</Reference>
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+                <Source>OMIM</Source>
+                <Reference>180072</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P35913</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35913</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="17199">
+            <Name lang="en">semaphorin 4A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196189</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>607292</Reference>
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+              <ExternalReference id="57579">
+                <Source>Reactome</Source>
+                <Reference>Q9H3S1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3S1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
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+              <Synonym lang="en">cyclic nucleotide-gated cation channel beta-1</Synonym>
+              <Synonym lang="en">glutamic acid-rich protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000042317</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>20423</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="18431">
+            <Name lang="en">guanylate cyclase activator 1B</Name>
+            <Symbol>GUCA1B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GCAP2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="18464">
+            <Name lang="en">kelch like family member 7</Name>
+            <Symbol>KLHL7</Symbol>
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+              <Synonym lang="en">SBBI26</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122550</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IXQ5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="18963">
+            <Name lang="en">small nuclear ribonucleoprotein U5 subunit 200</Name>
+            <Symbol>SNRNP200</Symbol>
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+              <Synonym lang="en">BRR2</Synonym>
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+              <Synonym lang="en">U5-200KD</Synonym>
+              <Synonym lang="en">bad response to refrigeration 2 homolog (S. cerevisiae)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144028</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>30859</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]</SourceOfValidation>
+          <Gene id="19227">
+            <Name lang="en">photoreceptor cilium actin regulator</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179270</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C2orf71</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="53225">
+                <Source>SwissProt</Source>
+                <Reference>P20794</Reference>
+              </ExternalReference>
+              <ExternalReference id="143957">
+                <Source>Reactome</Source>
+                <Reference>P20794</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39383">
+                <GeneLocus>6p24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301590[PMID]_19074801[PMID]</SourceOfValidation>
+          <Gene id="20695">
+            <Name lang="en">retinol binding protein 3</Name>
+            <Symbol>RBP3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">D10S64</Synonym>
+              <Synonym lang="en">D10S65</Synonym>
+              <Synonym lang="en">D10S66</Synonym>
+              <Synonym lang="en">RP66</Synonym>
+              <Synonym lang="en">interstitial retinol-binding protein 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95179">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000265203</Reference>
+              </ExternalReference>
+              <ExternalReference id="55485">
+                <Source>Genatlas</Source>
+                <Reference>RBP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="55483">
+                <Source>HGNC</Source>
+                <Reference>9921</Reference>
+              </ExternalReference>
+              <ExternalReference id="55484">
+                <Source>OMIM</Source>
+                <Reference>180290</Reference>
+              </ExternalReference>
+              <ExternalReference id="83232">
+                <Source>Reactome</Source>
+                <Reference>P10745</Reference>
+              </ExternalReference>
+              <ExternalReference id="82570">
+                <Source>SwissProt</Source>
+                <Reference>P10745</Reference>
+              </ExternalReference>
+              <ExternalReference id="190544">
+                <Source>IUPHAR</Source>
+                <Reference>2548</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60497">
+                <GeneLocus>10q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22177090[PMID]_20301590[PMID]</SourceOfValidation>
+          <Gene id="20696">
+            <Name lang="en">cilia and flagella associated protein 418</Name>
+            <Symbol>CFAP418</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">BBS21</Synonym>
+              <Synonym lang="en">Bardet-Biedl syndrome 21</Synonym>
+              <Synonym lang="en">CORD16</Synonym>
+              <Synonym lang="en">FAP418</Synonym>
+              <Synonym lang="en">FLJ30600</Synonym>
+              <Synonym lang="en">MOT25</Synonym>
+              <Synonym lang="en">RP64</Synonym>
+              <Synonym lang="en">cone-rod dystrophy 16</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57526">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156172</Reference>
+              </ExternalReference>
+              <ExternalReference id="55490">
+                <Source>Genatlas</Source>
+                <Reference>C8orf37</Reference>
+              </ExternalReference>
+              <ExternalReference id="55488">
+                <Source>HGNC</Source>
+                <Reference>27232</Reference>
+              </ExternalReference>
+              <ExternalReference id="55489">
+                <Source>OMIM</Source>
+                <Reference>614477</Reference>
+              </ExternalReference>
+              <ExternalReference id="55491">
+                <Source>SwissProt</Source>
+                <Reference>Q96NL8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14099">
+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26216056[PMID]</SourceOfValidation>
+          <Gene id="21155">
+            <Name lang="en">intraflagellar transport 140</Name>
+            <Symbol>IFT140</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0590</Synonym>
+              <Synonym lang="en">gs114</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83376">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187535</Reference>
+              </ExternalReference>
+              <ExternalReference id="69514">
+                <Source>Genatlas</Source>
+                <Reference>IFT140</Reference>
+              </ExternalReference>
+              <ExternalReference id="69512">
+                <Source>HGNC</Source>
+                <Reference>29077</Reference>
+              </ExternalReference>
+              <ExternalReference id="69513">
+                <Source>OMIM</Source>
+                <Reference>614620</Reference>
+              </ExternalReference>
+              <ExternalReference id="97325">
+                <Source>Reactome</Source>
+                <Reference>Q96RY7</Reference>
+              </ExternalReference>
+              <ExternalReference id="69515">
+                <Source>SwissProt</Source>
+                <Reference>Q96RY7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16897">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25882705[PMID]</SourceOfValidation>
+          <Gene id="22228">
+            <Name lang="en">zinc finger protein 408</Name>
+            <Symbol>ZNF408</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ12827</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175213</Reference>
+              </ExternalReference>
+              <ExternalReference id="80211">
+                <Source>Genatlas</Source>
+                <Reference>ZNF408</Reference>
+              </ExternalReference>
+              <ExternalReference id="80210">
+                <Source>HGNC</Source>
+                <Reference>20041</Reference>
+              </ExternalReference>
+              <ExternalReference id="96054">
+                <Source>OMIM</Source>
+                <Reference>616454</Reference>
+              </ExternalReference>
+              <ExternalReference id="80212">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9D4</Reference>
+              </ExternalReference>
+              <ExternalReference id="143857">
+                <Source>Reactome</Source>
+                <Reference>Q9H9D4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39179">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23849777[PMID]</SourceOfValidation>
+          <Gene id="22276">
+            <Name lang="en">ADP ribosylation factor like GTPase 2 binding protein</Name>
+            <Symbol>ARL2BP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BART</Synonym>
+              <Synonym lang="en">BART1</Synonym>
+              <Synonym lang="en">binder of Arl2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83974">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102931</Reference>
+              </ExternalReference>
+              <ExternalReference id="81415">
+                <Source>Genatlas</Source>
+                <Reference>ARL2BP</Reference>
+              </ExternalReference>
+              <ExternalReference id="81413">
+                <Source>HGNC</Source>
+                <Reference>17146</Reference>
+              </ExternalReference>
+              <ExternalReference id="81414">
+                <Source>OMIM</Source>
+                <Reference>615407</Reference>
+              </ExternalReference>
+              <ExternalReference id="97352">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2Y0</Reference>
+              </ExternalReference>
+              <ExternalReference id="81416">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2Y0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16951">
+                <GeneLocus>16q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24043777[PMID]</SourceOfValidation>
+          <Gene id="22421">
+            <Name lang="en">NIMA related kinase 2</Name>
+            <Symbol>NEK2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HsPK 21</Synonym>
+              <Synonym lang="en">NEK2A</Synonym>
+              <Synonym lang="en">NLK1</Synonym>
+              <Synonym lang="en">PPP1R111</Synonym>
+              <Synonym lang="en">RP67</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 111</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="84047">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117650</Reference>
+              </ExternalReference>
+              <ExternalReference id="82236">
+                <Source>Genatlas</Source>
+                <Reference>NEK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="82235">
+                <Source>HGNC</Source>
+                <Reference>7745</Reference>
+              </ExternalReference>
+              <ExternalReference id="84048">
+                <Source>IUPHAR</Source>
+                <Reference>2117</Reference>
+              </ExternalReference>
+              <ExternalReference id="82237">
+                <Source>OMIM</Source>
+                <Reference>604043</Reference>
+              </ExternalReference>
+              <ExternalReference id="84046">
+                <Source>Reactome</Source>
+                <Reference>P51955</Reference>
+              </ExternalReference>
+              <ExternalReference id="82238">
+                <Source>SwissProt</Source>
+                <Reference>P51955</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12865">
+                <GeneLocus>1q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25168386[PMID]</SourceOfValidation>
+          <Gene id="22531">
+            <Name lang="en">intraflagellar transport 172</Name>
+            <Symbol>IFT172</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BBS20</Synonym>
+              <Synonym lang="en">NPHP17</Synonym>
+              <Synonym lang="en">SLB</Synonym>
+              <Synonym lang="en">osm-1</Synonym>
+              <Synonym lang="en">wim</Synonym>
+              <Synonym lang="en">wimple homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82524">
+                <Source>OMIM</Source>
+                <Reference>607386</Reference>
+              </ExternalReference>
+              <ExternalReference id="97356">
+                <Source>Reactome</Source>
+                <Reference>Q9UG01</Reference>
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+              <ExternalReference id="82526">
+                <Source>SwissProt</Source>
+                <Reference>Q9UG01</Reference>
+              </ExternalReference>
+              <ExternalReference id="84083">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138002</Reference>
+              </ExternalReference>
+              <ExternalReference id="82525">
+                <Source>Genatlas</Source>
+                <Reference>IFT172</Reference>
+              </ExternalReference>
+              <ExternalReference id="82523">
+                <Source>HGNC</Source>
+                <Reference>30391</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16959">
+                <GeneLocus>2p23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24375934[PMID]</SourceOfValidation>
+          <Gene id="22799">
+            <Name lang="en">TUB bipartite transcription factor</Name>
+            <Symbol>TUB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">rd5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="89584">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166402</Reference>
+              </ExternalReference>
+              <ExternalReference id="88188">
+                <Source>Genatlas</Source>
+                <Reference>TUB</Reference>
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+              <ExternalReference id="88186">
+                <Source>HGNC</Source>
+                <Reference>12406</Reference>
+              </ExternalReference>
+              <ExternalReference id="88187">
+                <Source>OMIM</Source>
+                <Reference>601197</Reference>
+              </ExternalReference>
+              <ExternalReference id="88189">
+                <Source>SwissProt</Source>
+                <Reference>P50607</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23469">
+                <GeneLocus>11p15.4</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24680887[PMID]</SourceOfValidation>
+          <Gene id="22812">
+            <Name lang="en">kizuna centrosomal protein</Name>
+            <Symbol>KIZ</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HT013</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143910">
+                <Source>Reactome</Source>
+                <Reference>Q2M2Z5</Reference>
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+              <ExternalReference id="89603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088970</Reference>
+              </ExternalReference>
+              <ExternalReference id="89548">
+                <Source>Genatlas</Source>
+                <Reference>KIZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="89546">
+                <Source>HGNC</Source>
+                <Reference>15865</Reference>
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+              <ExternalReference id="89547">
+                <Source>OMIM</Source>
+                <Reference>615757</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q2M2Z5</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>20p11.23</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24670872[PMID]</SourceOfValidation>
+          <Gene id="22816">
+            <Name lang="en">solute carrier family 7 member 14</Name>
+            <Symbol>SLC7A14</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1613</Synonym>
+              <Synonym lang="en">PPP1R142</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 142</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190586">
+                <Source>IUPHAR</Source>
+                <Reference>895</Reference>
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+              <ExternalReference id="91551">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000013293</Reference>
+              </ExternalReference>
+              <ExternalReference id="89613">
+                <Source>Genatlas</Source>
+                <Reference>SLC7A14</Reference>
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+              <ExternalReference id="89611">
+                <Source>HGNC</Source>
+                <Reference>29326</Reference>
+              </ExternalReference>
+              <ExternalReference id="89612">
+                <Source>OMIM</Source>
+                <Reference>615720</Reference>
+              </ExternalReference>
+              <ExternalReference id="89614">
+                <Source>SwissProt</Source>
+                <Reference>Q8TBB6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60581">
+                <GeneLocus>3q26.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24419317[PMID]</SourceOfValidation>
+          <Gene id="22891">
+            <Name lang="en">pre-mRNA processing factor 4</Name>
+            <Symbol>PRPF4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">HPRP4</Synonym>
+              <Synonym lang="en">HPRP4P</Synonym>
+              <Synonym lang="en">PRP4</Synonym>
+              <Synonym lang="en">PRP4/STK/WD splicing factor</Synonym>
+              <Synonym lang="en">Prp4p</Synonym>
+              <Synonym lang="en">SNRNP60</Synonym>
+              <Synonym lang="en">U4/U6 small nuclear ribonucleoprotein Prp4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91607">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136875</Reference>
+              </ExternalReference>
+              <ExternalReference id="90325">
+                <Source>Genatlas</Source>
+                <Reference>PRPF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="90323">
+                <Source>HGNC</Source>
+                <Reference>17349</Reference>
+              </ExternalReference>
+              <ExternalReference id="90324">
+                <Source>OMIM</Source>
+                <Reference>607795</Reference>
+              </ExternalReference>
+              <ExternalReference id="91606">
+                <Source>Reactome</Source>
+                <Reference>O43172</Reference>
+              </ExternalReference>
+              <ExternalReference id="90326">
+                <Source>SwissProt</Source>
+                <Reference>O43172</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20765">
+                <GeneLocus>9q32</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31833436[PMID]</SourceOfValidation>
+          <Gene id="19678">
+            <Name lang="en">RP1 like 1</Name>
+            <Symbol>RP1L1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DCDC4B</Synonym>
+              <Synonym lang="en">doublecortin domain containing 4B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183638</Reference>
+              </ExternalReference>
+              <ExternalReference id="50357">
+                <Source>Genatlas</Source>
+                <Reference>RP1L1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15946</Reference>
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+              <ExternalReference id="50360">
+                <Source>OMIM</Source>
+                <Reference>608581</Reference>
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+              <ExternalReference id="50359">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWN7</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29726989[PMID]</SourceOfValidation>
+          <Gene id="27307">
+            <Name lang="en">aryl hydrocarbon receptor</Name>
+            <Symbol>AHR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">bHLHe76</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>2951</Reference>
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+              <ExternalReference id="159144">
+                <Source>HGNC</Source>
+                <Reference>348</Reference>
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+              <ExternalReference id="159145">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106546</Reference>
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+              <ExternalReference id="159146">
+                <Source>SwissProt</Source>
+                <Reference>P35869</Reference>
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+              <ExternalReference id="159147">
+                <Source>OMIM</Source>
+                <Reference>600253</Reference>
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+              <ExternalReference id="159148">
+                <Source>Genatlas</Source>
+                <Reference>AHR</Reference>
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+              <ExternalReference id="159149">
+                <Source>Reactome</Source>
+                <Reference>P35869</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32817297[PMID]</SourceOfValidation>
+          <Gene id="22559">
+            <Name lang="en">interphotoreceptor matrix proteoglycan 1</Name>
+            <Symbol>IMPG1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GP147</Synonym>
+              <Synonym lang="en">IPM150</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="84565">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112706</Reference>
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+              <ExternalReference id="84152">
+                <Source>Genatlas</Source>
+                <Reference>IMPG1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6055</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602870</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q17R60</Reference>
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+                <GeneLocus>6q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28412069[PMID]</SourceOfValidation>
+          <Gene id="27396">
+            <Name lang="en">isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha</Name>
+            <Symbol>IDH3A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">H-IDH alpha</Synonym>
+              <Synonym lang="en">NAD(H)-specific isocitrate dehydrogenase alpha subunit</Synonym>
+              <Synonym lang="en">NAD+-specific ICDH</Synonym>
+              <Synonym lang="en">isocitrate dehydrogenase (NAD+) alpha chain</Synonym>
+              <Synonym lang="en">isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial</Synonym>
+              <Synonym lang="en">isocitric dehydrogenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="159584">
+                <Source>HGNC</Source>
+                <Reference>5384</Reference>
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+              <ExternalReference id="159585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166411</Reference>
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+              <ExternalReference id="159586">
+                <Source>SwissProt</Source>
+                <Reference>P50213</Reference>
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+              <ExternalReference id="159587">
+                <Source>OMIM</Source>
+                <Reference>601149</Reference>
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+              <ExternalReference id="159588">
+                <Source>Genatlas</Source>
+                <Reference>IDH3A</Reference>
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+              <ExternalReference id="159589">
+                <Source>Reactome</Source>
+                <Reference>P50213</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30208423[PMID]</SourceOfValidation>
+          <Gene id="24463">
+            <Name lang="en">DEAH-box helicase 38</Name>
+            <Symbol>DHX38</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0224</Synonym>
+              <Synonym lang="en">PRP16</Synonym>
+              <Synonym lang="en">PRPF16</Synonym>
+              <Synonym lang="en">hPrp16</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>OMIM</Source>
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+              <ExternalReference id="133465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140829</Reference>
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+              <ExternalReference id="142828">
+                <Source>Genatlas</Source>
+                <Reference>DHX38</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17211</Reference>
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+              <ExternalReference id="134256">
+                <Source>Reactome</Source>
+                <Reference>Q92620</Reference>
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+                <Reference>Q92620</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26964041[PMID]</SourceOfValidation>
+          <Gene id="26088">
+            <Name lang="en">ADP ribosylation factor like GTPase 3</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">ARFL3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="151529">
+                <Source>SwissProt</Source>
+                <Reference>P36405</Reference>
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+              <ExternalReference id="151530">
+                <Source>OMIM</Source>
+                <Reference>604695</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ARL3</Reference>
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+              <ExternalReference id="151532">
+                <Source>Reactome</Source>
+                <Reference>P36405</Reference>
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+                <Source>HGNC</Source>
+                <Reference>694</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138175</Reference>
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+                <GeneLocus>10q24.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26908613[PMID]</SourceOfValidation>
+          <Gene id="15121">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)</Name>
+            <Symbol>POMGNT1</Symbol>
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+              <Synonym lang="en">FLJ20277</Synonym>
+              <Synonym lang="en">LGMD2O</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100284">
+                <Source>Reactome</Source>
+                <Reference>Q8WZA1</Reference>
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+              <ExternalReference id="58895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085998</Reference>
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+              <ExternalReference id="25010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>606822</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WZA1</Reference>
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+            <Name lang="en">calcium voltage-gated channel subunit alpha1 A</Name>
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+              <Synonym lang="en">Cav2.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141837</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ATPase Na+/K+ transporting subunit alpha 2</Name>
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+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-2</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000018625</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATP1A2</Reference>
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+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="18733">
+            <Name lang="en">solute carrier family 1 member 3</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>P00558</Reference>
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+              <ExternalReference id="33754">
+                <Source>SwissProt</Source>
+                <Reference>P00558</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22579">
+                <GeneLocus>Xq21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="738">
+      <OrphaCode>57</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=57</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to aldolase A deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15491">
+            <Name lang="en">aldolase, fructose-bisphosphate A</Name>
+            <Symbol>ALDOA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57651">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149925</Reference>
+              </ExternalReference>
+              <ExternalReference id="26787">
+                <Source>Genatlas</Source>
+                <Reference>ALDOA</Reference>
+              </ExternalReference>
+              <ExternalReference id="26785">
+                <Source>HGNC</Source>
+                <Reference>414</Reference>
+              </ExternalReference>
+              <ExternalReference id="26784">
+                <Source>OMIM</Source>
+                <Reference>103850</Reference>
+              </ExternalReference>
+              <ExternalReference id="57652">
+                <Source>Reactome</Source>
+                <Reference>P04075</Reference>
+              </ExternalReference>
+              <ExternalReference id="32462">
+                <Source>SwissProt</Source>
+                <Reference>P04075</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7507">
+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="742">
+      <OrphaCode>2334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2334</ExpertLink>
+      <Name lang="en">Autosomal dominant keratitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7668281[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
+              </ExternalReference>
+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
+              </ExternalReference>
+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="763">
+      <OrphaCode>46</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=46</ExpertLink>
+      <Name lang="en">Adenylosuccinate lyase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18524658[PMID]</SourceOfValidation>
+          <Gene id="15468">
+            <Name lang="en">adenylosuccinate lyase</Name>
+            <Symbol>ADSL</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26671">
+                <Source>HGNC</Source>
+                <Reference>291</Reference>
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+              <ExternalReference id="26670">
+                <Source>OMIM</Source>
+                <Reference>608222</Reference>
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+              <ExternalReference id="57669">
+                <Source>Reactome</Source>
+                <Reference>P30566</Reference>
+              </ExternalReference>
+              <ExternalReference id="32439">
+                <Source>SwissProt</Source>
+                <Reference>P30566</Reference>
+              </ExternalReference>
+              <ExternalReference id="57668">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000239900</Reference>
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+              <ExternalReference id="26669">
+                <Source>Genatlas</Source>
+                <Reference>ADSL</Reference>
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+            <LocusList count="1">
+              <Locus id="7461">
+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="766">
+      <OrphaCode>3166</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3166</ExpertLink>
+      <Name lang="en">Sialuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301343[PMID]</SourceOfValidation>
+          <Gene id="16150">
+            <Name lang="en">glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase</Name>
+            <Symbol>GNE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Uae1</Synonym>
+              <Synonym lang="en">bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57670">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159921</Reference>
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+              <ExternalReference id="29950">
+                <Source>Genatlas</Source>
+                <Reference>GNE</Reference>
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+              <ExternalReference id="29952">
+                <Source>HGNC</Source>
+                <Reference>23657</Reference>
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+              <ExternalReference id="29951">
+                <Source>OMIM</Source>
+                <Reference>603824</Reference>
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+              <ExternalReference id="87978">
+                <Source>Reactome</Source>
+                <Reference>Q9Y223</Reference>
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+              <ExternalReference id="33169">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y223</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="765">
+      <OrphaCode>2882</OrphaCode>
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+      <Name lang="en">Sitosterolemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11138003[PMID]_23556150[PMID]</SourceOfValidation>
+          <Gene id="15059">
+            <Name lang="en">ATP binding cassette subfamily G member 5</Name>
+            <Symbol>ABCG5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">STSL</Synonym>
+              <Synonym lang="en">sterolin 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>794</Reference>
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+              <ExternalReference id="24708">
+                <Source>Genatlas</Source>
+                <Reference>ABCG5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13886</Reference>
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+              <ExternalReference id="24705">
+                <Source>OMIM</Source>
+                <Reference>605459</Reference>
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+              <ExternalReference id="57082">
+                <Source>Reactome</Source>
+                <Reference>Q9H222</Reference>
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+              <ExternalReference id="32336">
+                <Source>SwissProt</Source>
+                <Reference>Q9H222</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138075</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11099417[PMID]_23556150[PMID]</SourceOfValidation>
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+            <Symbol>ABCG8</Symbol>
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+              <Synonym lang="en">gallbladder disease 4</Synonym>
+              <Synonym lang="en">sterolin 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>795</Reference>
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+              <ExternalReference id="57083">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143921</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H221</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H221</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Granulomatosis with polyangiitis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>P20036</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231389</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">proteinase 3</Name>
+            <Symbol>PRTN3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACPA</Synonym>
+              <Synonym lang="en">AGP7</Synonym>
+              <Synonym lang="en">C-ANCA</Synonym>
+              <Synonym lang="en">MBT</Synonym>
+              <Synonym lang="en">P29</Synonym>
+              <Synonym lang="en">PR-3</Synonym>
+              <Synonym lang="en">Wegener granulomatosis autoantigen</Synonym>
+              <Synonym lang="en">myeloblastin</Synonym>
+              <Synonym lang="en">serine proteinase, neutrophil</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196415</Reference>
+              </ExternalReference>
+              <ExternalReference id="37323">
+                <Source>Genatlas</Source>
+                <Reference>PRTN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25181">
+                <Source>HGNC</Source>
+                <Reference>9495</Reference>
+              </ExternalReference>
+              <ExternalReference id="82751">
+                <Source>IUPHAR</Source>
+                <Reference>2401</Reference>
+              </ExternalReference>
+              <ExternalReference id="25180">
+                <Source>OMIM</Source>
+                <Reference>177020</Reference>
+              </ExternalReference>
+              <ExternalReference id="97159">
+                <Source>Reactome</Source>
+                <Reference>P24158</Reference>
+              </ExternalReference>
+              <ExternalReference id="33268">
+                <Source>SwissProt</Source>
+                <Reference>P24158</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16565">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17928">
+      <OrphaCode>171695</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171695</ExpertLink>
+      <Name lang="en">Parkinsonian-pyramidal syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23526723[PMID]</SourceOfValidation>
+          <Gene id="15532">
+            <Name lang="en">synuclein alpha</Name>
+            <Symbol>SNCA</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">&amp;#945;-synuclein</Synonym>
+              <Synonym lang="en">NACP</Synonym>
+              <Synonym lang="en">PD1</Synonym>
+              <Synonym lang="en">a-synuclein</Synonym>
+              <Synonym lang="en">alpha-synuclein</Synonym>
+              <Synonym lang="en">non A4 component of amyloid precursor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145335</Reference>
+              </ExternalReference>
+              <ExternalReference id="26980">
+                <Source>Genatlas</Source>
+                <Reference>SNCA</Reference>
+              </ExternalReference>
+              <ExternalReference id="26982">
+                <Source>HGNC</Source>
+                <Reference>11138</Reference>
+              </ExternalReference>
+              <ExternalReference id="26981">
+                <Source>OMIM</Source>
+                <Reference>163890</Reference>
+              </ExternalReference>
+              <ExternalReference id="57855">
+                <Source>Reactome</Source>
+                <Reference>P37840</Reference>
+              </ExternalReference>
+              <ExternalReference id="32503">
+                <Source>SwissProt</Source>
+                <Reference>P37840</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25651">
+                <GeneLocus>4q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19038853[PMID]</SourceOfValidation>
+          <Gene id="18162">
+            <Name lang="en">F-box protein 7</Name>
+            <Symbol>FBXO7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FBX7</Synonym>
+              <Synonym lang="en">Fbx</Synonym>
+              <Synonym lang="en">PARK15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126380">
+                <Source>Reactome</Source>
+                <Reference>Q9Y3I1</Reference>
+              </ExternalReference>
+              <ExternalReference id="60230">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100225</Reference>
+              </ExternalReference>
+              <ExternalReference id="41323">
+                <Source>Genatlas</Source>
+                <Reference>FBXO7</Reference>
+              </ExternalReference>
+              <ExternalReference id="41324">
+                <Source>HGNC</Source>
+                <Reference>13586</Reference>
+              </ExternalReference>
+              <ExternalReference id="41325">
+                <Source>OMIM</Source>
+                <Reference>605648</Reference>
+              </ExternalReference>
+              <ExternalReference id="41326">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3I1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26745">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="713">
+      <OrphaCode>134</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=134</ExpertLink>
+      <Name lang="en">Beta-ketothiolase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23430882[PMID]</SourceOfValidation>
+          <Gene id="15069">
+            <Name lang="en">acetyl-CoA acetyltransferase 1</Name>
+            <Symbol>ACAT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">THIL</Synonym>
+              <Synonym lang="en">acetoacetyl Coenzyme A thiolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075239</Reference>
+              </ExternalReference>
+              <ExternalReference id="24755">
+                <Source>Genatlas</Source>
+                <Reference>ACAT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24753">
+                <Source>HGNC</Source>
+                <Reference>93</Reference>
+              </ExternalReference>
+              <ExternalReference id="82729">
+                <Source>IUPHAR</Source>
+                <Reference>2435</Reference>
+              </ExternalReference>
+              <ExternalReference id="24752">
+                <Source>OMIM</Source>
+                <Reference>607809</Reference>
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+              <ExternalReference id="57640">
+                <Source>Reactome</Source>
+                <Reference>P24752</Reference>
+              </ExternalReference>
+              <ExternalReference id="32346">
+                <Source>SwissProt</Source>
+                <Reference>P24752</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6713">
+                <GeneLocus>11q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17929">
+      <OrphaCode>171700</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171700</ExpertLink>
+      <Name lang="en">Diffuse panbronchiolitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18348">
+            <Name lang="en">mucin like 3</Name>
+            <Symbol>MUCL3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C6orf37</Synonym>
+              <Synonym lang="en">PBLT</Synonym>
+              <Synonym lang="en">bCX105N19.6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="82642">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168631</Reference>
+              </ExternalReference>
+              <ExternalReference id="41662">
+                <Source>Genatlas</Source>
+                <Reference>DPCR1</Reference>
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+              <ExternalReference id="41663">
+                <Source>HGNC</Source>
+                <Reference>21666</Reference>
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+              <ExternalReference id="82590">
+                <Source>OMIM</Source>
+                <Reference>613928</Reference>
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+              <ExternalReference id="41665">
+                <Source>SwissProt</Source>
+                <Reference>Q3MIW9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21301">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20158">
+            <Name lang="en">mucin 5B, oligomeric mucus/gel-forming</Name>
+            <Symbol>MUC5B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MG1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117983</Reference>
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+              <ExternalReference id="51748">
+                <Source>Genatlas</Source>
+                <Reference>MUC5B</Reference>
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+              <ExternalReference id="51746">
+                <Source>HGNC</Source>
+                <Reference>7516</Reference>
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+              <ExternalReference id="51747">
+                <Source>OMIM</Source>
+                <Reference>600770</Reference>
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+              <ExternalReference id="58757">
+                <Source>Reactome</Source>
+                <Reference>Q9HC84</Reference>
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+              <ExternalReference id="51749">
+                <Source>SwissProt</Source>
+                <Reference>Q9HC84</Reference>
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+              <Locus id="11453">
+                <GeneLocus>11p15.5</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="17930">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171703</ExpertLink>
+      <Name lang="en">Microcephaly-polymicrogyria-corpus callosum agenesis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21739582[PMID]</SourceOfValidation>
+          <Gene id="15868">
+            <Name lang="en">DISC1 scaffold protein</Name>
+            <Symbol>DISC1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143901">
+                <Source>Reactome</Source>
+                <Reference>Q9NRI5</Reference>
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+              <ExternalReference id="32879">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRI5</Reference>
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+              <ExternalReference id="56995">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162946</Reference>
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+              <ExternalReference id="37425">
+                <Source>Genatlas</Source>
+                <Reference>DISC1</Reference>
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+                <Reference>2888</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="18163">
+            <Name lang="en">eomesodermin</Name>
+            <Symbol>EOMES</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">T-box brain2</Synonym>
+              <Synonym lang="en">TBR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163508</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3372</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604615</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95936</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>171706</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171706</ExpertLink>
+      <Name lang="en">Short stature-delayed bone age due to thyroid hormone metabolism deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16228000[PMID]_19602558[PMID]</SourceOfValidation>
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+            <Name lang="en">SECIS binding protein 2</Name>
+            <Symbol>SECISBP2</Symbol>
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+              <Synonym lang="en">SBP2</Synonym>
+              <Synonym lang="en">Sec insertion sequence-binding protein 2</Synonym>
+              <Synonym lang="en">Selenocysteine insertion sequence-binding protein 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96T21</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187742</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SECISBP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30972</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Male infertility due to globozoospermia</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="25778">
+            <Name lang="en">golgi associated PDZ and coiled-coil motif containing</Name>
+            <Symbol>GOPC</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">FIG</Synonym>
+              <Synonym lang="en">GOPC1</Synonym>
+              <Synonym lang="en">PIST</Synonym>
+              <Synonym lang="en">dJ94G16.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>17643</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000047932</Reference>
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+              <ExternalReference id="147257">
+                <Source>SwissProt</Source>
+                <Reference>Q9HD26</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606845</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GOPC</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HD26</Reference>
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+              <Locus id="42071">
+                <GeneLocus>6q22.1</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17847006[PMID]_22571172[PMID]</SourceOfValidation>
+          <Gene id="18165">
+            <Name lang="en">spermatogenesis associated 16</Name>
+            <Symbol>SPATA16</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NYD-SP12</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60234">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144962</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SPATA16</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29935</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609856</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BXB7</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397063[PMID]_22571172[PMID]</SourceOfValidation>
+          <Gene id="20139">
+            <Name lang="en">dpy-19 like 2</Name>
+            <Symbol>DPY19L2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ32949</Synonym>
+              <Synonym lang="en">SPATA34</Synonym>
+              <Synonym lang="en">spermatogenesis associated 34</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000177990</Reference>
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+              <ExternalReference id="51450">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20562896[PMID]_22571172[PMID]</SourceOfValidation>
+          <Gene id="23375">
+            <Name lang="en">protein interacting with PRKCA 1</Name>
+            <Symbol>PICK1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100151</Reference>
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+                <Reference>PICK1</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>Q9NRD5</Reference>
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+                <Reference>Q9NRD5</Reference>
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+      <Name lang="en">White sponge nevus</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">keratin 4</Name>
+            <Symbol>KRT4</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">K4</Synonym>
+              <Synonym lang="en">cytokeratin 4</Synonym>
+              <Synonym lang="en">keratin, type II cytoskeletal 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170477</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6441</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7493031[PMID]_10561721[PMID]_11379896[PMID]_14600690[PMID]</SourceOfValidation>
+          <Gene id="18168">
+            <Name lang="en">keratin 13</Name>
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+              <Synonym lang="en">CK13</Synonym>
+              <Synonym lang="en">K13</Synonym>
+              <Synonym lang="en">MGC161462</Synonym>
+              <Synonym lang="en">MGC3781</Synonym>
+              <Synonym lang="en">cytokeratin 13</Synonym>
+              <Synonym lang="en">keratin, type I cytoskeletal 13</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171401</Reference>
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+              <ExternalReference id="41353">
+                <Source>Genatlas</Source>
+                <Reference>KRT13</Reference>
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+      <Name lang="en">Lissencephaly due to TUBA1A mutation</Name>
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+            <Name lang="en">tubulin alpha 1a</Name>
+            <Symbol>TUBA1A</Symbol>
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+              <Synonym lang="en">FLJ25113</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60228">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167552</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>28220527[PMID]</SourceOfValidation>
+          <Gene id="21896">
+            <Name lang="en">myopalladin</Name>
+            <Symbol>MYPN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'sarcomeric protein myopalladin, 145 kDa'</Synonym>
+              <Synonym lang="en">MYOP</Synonym>
+              <Synonym lang="en">Sarcomeric protein myopalladin, 145 kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138347</Reference>
+              </ExternalReference>
+              <ExternalReference id="77808">
+                <Source>Genatlas</Source>
+                <Reference>MYPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="77806">
+                <Source>HGNC</Source>
+                <Reference>23246</Reference>
+              </ExternalReference>
+              <ExternalReference id="77807">
+                <Source>OMIM</Source>
+                <Reference>608517</Reference>
+              </ExternalReference>
+              <ExternalReference id="77809">
+                <Source>SwissProt</Source>
+                <Reference>Q86TC9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24339">
+                <GeneLocus>10q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301465[PMID]_17846275[PMID]</SourceOfValidation>
+          <Gene id="15648">
+            <Name lang="en">tropomyosin 2</Name>
+            <Symbol>TPM2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DA1</Synonym>
+              <Synonym lang="en">NEM4</Synonym>
+              <Synonym lang="en">nemaline myopathy type 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57253">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198467</Reference>
+              </ExternalReference>
+              <ExternalReference id="27538">
+                <Source>Genatlas</Source>
+                <Reference>TPM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27536">
+                <Source>HGNC</Source>
+                <Reference>12011</Reference>
+              </ExternalReference>
+              <ExternalReference id="27535">
+                <Source>OMIM</Source>
+                <Reference>190990</Reference>
+              </ExternalReference>
+              <ExternalReference id="57254">
+                <Source>Reactome</Source>
+                <Reference>P07951</Reference>
+              </ExternalReference>
+              <ExternalReference id="32620">
+                <Source>SwissProt</Source>
+                <Reference>P07951</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21347">
+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20554445[PMID]</SourceOfValidation>
+          <Gene id="15649">
+            <Name lang="en">tropomyosin 3</Name>
+            <Symbol>TPM3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27541">
+                <Source>OMIM</Source>
+                <Reference>191030</Reference>
+              </ExternalReference>
+              <ExternalReference id="57341">
+                <Source>Reactome</Source>
+                <Reference>P06753</Reference>
+              </ExternalReference>
+              <ExternalReference id="32621">
+                <Source>SwissProt</Source>
+                <Reference>P06753</Reference>
+              </ExternalReference>
+              <ExternalReference id="57340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143549</Reference>
+              </ExternalReference>
+              <ExternalReference id="27540">
+                <Source>Genatlas</Source>
+                <Reference>TPM3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27542">
+                <Source>HGNC</Source>
+                <Reference>12012</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23841">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="732">
+      <OrphaCode>2512</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2512</ExpertLink>
+      <Name lang="en">Autosomal recessive primary microcephaly</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="25">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27453578[PMID]</SourceOfValidation>
+          <Gene id="24009">
+            <Name lang="en">citron rho-interacting serine/threonine kinase</Name>
+            <Symbol>CIT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CITK</Synonym>
+              <Synonym lang="en">CRIK</Synonym>
+              <Synonym lang="en">KIAA0949</Synonym>
+              <Synonym lang="en">STK21</Synonym>
+              <Synonym lang="en">serine/threonine kinase 21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="125245">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122966</Reference>
+              </ExternalReference>
+              <ExternalReference id="125246">
+                <Source>IUPHAR</Source>
+                <Reference>1509</Reference>
+              </ExternalReference>
+              <ExternalReference id="125240">
+                <Source>HGNC</Source>
+                <Reference>1985</Reference>
+              </ExternalReference>
+              <ExternalReference id="125241">
+                <Source>OMIM</Source>
+                <Reference>605629</Reference>
+              </ExternalReference>
+              <ExternalReference id="125242">
+                <Source>Genatlas</Source>
+                <Reference>CIT</Reference>
+              </ExternalReference>
+              <ExternalReference id="125243">
+                <Source>SwissProt</Source>
+                <Reference>O14578</Reference>
+              </ExternalReference>
+              <ExternalReference id="125244">
+                <Source>Reactome</Source>
+                <Reference>O14578</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20479">
+                <GeneLocus>12q24.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27737959[PMID]</SourceOfValidation>
+          <Gene id="27084">
+            <Name lang="en">non-SMC condensin II complex subunit D3</Name>
+            <Symbol>NCAPD3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CAP-D3</Synonym>
+              <Synonym lang="en">FLJ42888</Synonym>
+              <Synonym lang="en">KIAA0056</Synonym>
+              <Synonym lang="en">hCAP-D3</Synonym>
+              <Synonym lang="en">hHCP-6</Synonym>
+              <Synonym lang="en">hcp-6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="158294">
+                <Source>HGNC</Source>
+                <Reference>28952</Reference>
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+              <ExternalReference id="200835">
+                <Source>SwissProt</Source>
+                <Reference>P42695</Reference>
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+              <ExternalReference id="162684">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151503</Reference>
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+              <ExternalReference id="191467">
+                <Source>OMIM</Source>
+                <Reference>609276</Reference>
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+            <LocusList count="1">
+              <Locus id="80645">
+                <GeneLocus>11q25</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29036432[PMID]</SourceOfValidation>
+          <Gene id="26343">
+            <Name lang="en">COPI coat complex subunit beta 2</Name>
+            <Symbol>COPB2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">beta'-COP</Synonym>
+              <Synonym lang="en">betaprime-COP</Synonym>
+              <Synonym lang="en">coatomer protein complex subunit beta prime</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="152973">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184432</Reference>
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+              <ExternalReference id="152974">
+                <Source>SwissProt</Source>
+                <Reference>P35606</Reference>
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+              <ExternalReference id="152975">
+                <Source>OMIM</Source>
+                <Reference>606990</Reference>
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+              <ExternalReference id="152976">
+                <Source>Genatlas</Source>
+                <Reference>COPB2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P35606</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>35298461[PMID]</SourceOfValidation>
+          <Gene id="30200">
+            <Name lang="en">trafficking protein particle complex subunit 10</Name>
+            <Symbol>TRAPPC10</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EHOC-1</Synonym>
+              <Synonym lang="en">TRAPP 130 kDa subunit</Synonym>
+              <Synonym lang="en">TRS130</Synonym>
+              <Synonym lang="en">trafficking protein particle complex subunit 130</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>602103</Reference>
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+              <ExternalReference id="201368">
+                <Source>SwissProt</Source>
+                <Reference>P48553</Reference>
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+              <ExternalReference id="192831">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160218</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34059554[PMID]</SourceOfValidation>
+          <Gene id="31529">
+            <Name lang="en">minichromosome maintenance complex component 7</Name>
+            <Symbol>MCM7</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166508</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31564433[PMID]</SourceOfValidation>
+          <Gene id="29254">
+            <Name lang="en">methyltransferase 5, N6-adenosine</Name>
+            <Symbol>METTL5</Symbol>
+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138382</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NRN9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>30715179[PMID]</SourceOfValidation>
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+            <Name lang="en">trafficking protein particle complex subunit 14</Name>
+            <Symbol>TRAPPC14</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ10925</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8WVR3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28892560[PMID]</SourceOfValidation>
+          <Gene id="23506">
+            <Name lang="en">kinesin family member 14</Name>
+            <Symbol>KIF14</Symbol>
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+              <Synonym lang="en">KIAA0042</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28257693[PMID]</SourceOfValidation>
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+              <Synonym lang="en">TAFII18</Synonym>
+              <Synonym lang="en">Transcription initiation factor TFIID subunit 13</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q15543</Reference>
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+                <Reference>TAF13</Reference>
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+                <Source>Reactome</Source>
+                <Reference>R-HSA-65557</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27860360[PMID]</SourceOfValidation>
+          <Gene id="25358">
+            <Name lang="en">pyrroline-5-carboxylate reductase 2</Name>
+            <Symbol>PYCR2</Symbol>
+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143811</Reference>
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+                <Source>OMIM</Source>
+                <Reference>616406</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96C36</Reference>
+              </ExternalReference>
+              <ExternalReference id="142451">
+                <Source>Genatlas</Source>
+                <Reference>PYCR2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>R-HSA-6783954</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15423">
+            <Name lang="en">CDK5 regulatory subunit associated protein 2</Name>
+            <Symbol>CDK5RAP2</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">CEP215</Synonym>
+              <Synonym lang="en">FLJ10867</Synonym>
+              <Synonym lang="en">centrosomin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136861</Reference>
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+              <ExternalReference id="26448">
+                <Source>Genatlas</Source>
+                <Reference>CDK5RAP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18672</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608201</Reference>
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+              <ExternalReference id="57643">
+                <Source>Reactome</Source>
+                <Reference>Q96SN8</Reference>
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+                <Reference>Q96SN8</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
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+            <Name lang="en">centromere protein J</Name>
+            <Symbol>CENPJ</Symbol>
+            <SynonymList count="11">
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+              <Synonym lang="en">CPAP</Synonym>
+              <Synonym lang="en">LAG-3-associated protein</Synonym>
+              <Synonym lang="en">LAP</Synonym>
+              <Synonym lang="en">LIP1</Synonym>
+              <Synonym lang="en">SASS4</Synonym>
+              <Synonym lang="en">SCKL4</Synonym>
+              <Synonym lang="en">Sas-4</Synonym>
+              <Synonym lang="en">Seckel syndrome 4</Synonym>
+              <Synonym lang="en">Spindle assembly abnormal 4</Synonym>
+              <Synonym lang="en">centrosomal P4.1-associated protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000151849</Reference>
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+                <Reference>CENPJ</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17272</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609279</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HC77</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="15959">
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+              <Synonym lang="en">Calmbp1</Synonym>
+              <Synonym lang="en">FLJ10517</Synonym>
+              <Synonym lang="en">FLJ10549</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8IZT6</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605481</Reference>
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+                <Reference>Q8IZT6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066279</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+            <Name lang="en">microcephalin 1</Name>
+            <Symbol>MCPH1</Symbol>
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+              <Synonym lang="en">BRCT-repeat inhibitor of TERT expression 1</Synonym>
+              <Synonym lang="en">BRIT1</Synonym>
+              <Synonym lang="en">FLJ12847</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147316</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8NEM0</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000123473</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">blinkin, bub-linking kinetochore protein</Synonym>
+              <Synonym lang="en">cancer/testis antigen 29</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q00534</Reference>
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+              <ExternalReference id="84510">
+                <Source>SwissProt</Source>
+                <Reference>Q00534</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22513">
+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24951542[PMID]</SourceOfValidation>
+          <Gene id="23095">
+            <Name lang="en">SAS-6 centriolar assembly protein</Name>
+            <Symbol>SASS6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp761A078</Synonym>
+              <Synonym lang="en">FLJ22097</Synonym>
+              <Synonym lang="en">SAS-6</Synonym>
+              <Synonym lang="en">SAS6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95069">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156876</Reference>
+              </ExternalReference>
+              <ExternalReference id="95067">
+                <Source>Genatlas</Source>
+                <Reference>SASS6</Reference>
+              </ExternalReference>
+              <ExternalReference id="95065">
+                <Source>HGNC</Source>
+                <Reference>25403</Reference>
+              </ExternalReference>
+              <ExternalReference id="95066">
+                <Source>OMIM</Source>
+                <Reference>609321</Reference>
+              </ExternalReference>
+              <ExternalReference id="95068">
+                <Source>SwissProt</Source>
+                <Reference>Q6UVJ0</Reference>
+              </ExternalReference>
+              <ExternalReference id="143182">
+                <Source>Reactome</Source>
+                <Reference>Q6UVJ0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26005865[PMID]_26005868[PMID]</SourceOfValidation>
+          <Gene id="23296">
+            <Name lang="en">major facilitator superfamily domain containing 2A</Name>
+            <Symbol>MFSD2A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ14490</Synonym>
+              <Synonym lang="en">SLC59A1</Synonym>
+              <Synonym lang="en">sodium-dependent LPC symporter 1</Synonym>
+              <Synonym lang="en">sodium-dependent lysophosphatidylcholine symporter 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96072">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168389</Reference>
+              </ExternalReference>
+              <ExternalReference id="96070">
+                <Source>Genatlas</Source>
+                <Reference>MFSD2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="96069">
+                <Source>HGNC</Source>
+                <Reference>25897</Reference>
+              </ExternalReference>
+              <ExternalReference id="96068">
+                <Source>OMIM</Source>
+                <Reference>614397</Reference>
+              </ExternalReference>
+              <ExternalReference id="190614">
+                <Source>IUPHAR</Source>
+                <Reference>3041</Reference>
+              </ExternalReference>
+              <ExternalReference id="126446">
+                <Source>Reactome</Source>
+                <Reference>Q8NA29</Reference>
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+              <ExternalReference id="96071">
+                <Source>SwissProt</Source>
+                <Reference>Q8NA29</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60637">
+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25259927[PMID]</SourceOfValidation>
+          <Gene id="23518">
+            <Name lang="en">ankyrin repeat and LEM domain containing 2</Name>
+            <Symbol>ANKLE2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LEM domain containing 7</Synonym>
+              <Synonym lang="en">LEMD7</Synonym>
+              <Synonym lang="en">Lem4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176915</Reference>
+              </ExternalReference>
+              <ExternalReference id="97785">
+                <Source>Genatlas</Source>
+                <Reference>ANKLE2</Reference>
+              </ExternalReference>
+              <ExternalReference id="97783">
+                <Source>HGNC</Source>
+                <Reference>29101</Reference>
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+              <ExternalReference id="97784">
+                <Source>OMIM</Source>
+                <Reference>616062</Reference>
+              </ExternalReference>
+              <ExternalReference id="97787">
+                <Source>Reactome</Source>
+                <Reference>Q86XL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="97786">
+                <Source>SwissProt</Source>
+                <Reference>Q86XL3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17347">
+                <GeneLocus>12q24.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17948">
+      <OrphaCode>171876</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171876</ExpertLink>
+      <Name lang="en">Generalized pseudohypoaldosteronism type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19571553[PMID]_23416952[PMID]_23762408[PMID]</SourceOfValidation>
+          <Gene id="15256">
+            <Name lang="en">sodium channel epithelial 1 subunit alpha</Name>
+            <Symbol>SCNN1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ENaCalpha</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="37338">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25646">
+                <Source>HGNC</Source>
+                <Reference>10599</Reference>
+              </ExternalReference>
+              <ExternalReference id="87961">
+                <Source>IUPHAR</Source>
+                <Reference>738</Reference>
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+              <ExternalReference id="25645">
+                <Source>OMIM</Source>
+                <Reference>600228</Reference>
+              </ExternalReference>
+              <ExternalReference id="82774">
+                <Source>Reactome</Source>
+                <Reference>P37088</Reference>
+              </ExternalReference>
+              <ExternalReference id="33814">
+                <Source>SwissProt</Source>
+                <Reference>P37088</Reference>
+              </ExternalReference>
+              <ExternalReference id="60246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111319</Reference>
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+            <LocusList count="1">
+              <Locus id="7073">
+                <GeneLocus>12p13</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19571553[PMID]_23426840[PMID]</SourceOfValidation>
+          <Gene id="15257">
+            <Name lang="en">sodium channel epithelial 1 subunit beta</Name>
+            <Symbol>SCNN1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ENaCbeta</Synonym>
+              <Synonym lang="en">Liddle syndrome</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57837">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168447</Reference>
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+              <ExternalReference id="25652">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1B</Reference>
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+              <ExternalReference id="25650">
+                <Source>HGNC</Source>
+                <Reference>10600</Reference>
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+              <ExternalReference id="87962">
+                <Source>IUPHAR</Source>
+                <Reference>739</Reference>
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+              <ExternalReference id="25649">
+                <Source>OMIM</Source>
+                <Reference>600760</Reference>
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+              <ExternalReference id="82775">
+                <Source>Reactome</Source>
+                <Reference>P51168</Reference>
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+              <ExternalReference id="33815">
+                <Source>SwissProt</Source>
+                <Reference>P51168</Reference>
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+            <LocusList count="1">
+              <Locus id="7075">
+                <GeneLocus>16p12.2-p12.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11231969[PMID]_19571553[PMID]</SourceOfValidation>
+          <Gene id="15258">
+            <Name lang="en">sodium channel epithelial 1 subunit gamma</Name>
+            <Symbol>SCNN1G</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ENaCgamma</Synonym>
+              <Synonym lang="en">SCNEG</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit gamma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166828</Reference>
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+              <ExternalReference id="36263">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10602</Reference>
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+              <ExternalReference id="87963">
+                <Source>IUPHAR</Source>
+                <Reference>741</Reference>
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+              <ExternalReference id="25654">
+                <Source>OMIM</Source>
+                <Reference>600761</Reference>
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+              <ExternalReference id="82776">
+                <Source>Reactome</Source>
+                <Reference>P51170</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51170</Reference>
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+      <Name lang="en">Sarcoidosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15735647[PMID]</SourceOfValidation>
+          <Gene id="20798">
+            <Name lang="en">butyrophilin like 2</Name>
+            <Symbol>BTNL2</Symbol>
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+              <Synonym lang="en">BTL-II</Synonym>
+              <Synonym lang="en">BTN7</Synonym>
+              <Synonym lang="en">HSBLMHC1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135065">
+                <Source>Reactome</Source>
+                <Reference>Q9UIR0</Reference>
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+              <ExternalReference id="60756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204290</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BTNL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1142</Reference>
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+              <ExternalReference id="60753">
+                <Source>OMIM</Source>
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+              <ExternalReference id="60755">
+                <Source>SwissProt</Source>
+                <Reference>Q9UIR0</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22991420[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">6q16 microdeletion syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24038875[PMID]</SourceOfValidation>
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+            <Name lang="en">SIM bHLH transcription factor 1</Name>
+            <Symbol>SIM1</Symbol>
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+              <Synonym lang="en">bHLHe14</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112246</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SIM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10882</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603128</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P81133</Reference>
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+      <Name lang="en">MEDNIK syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">adaptor related protein complex 1 subunit beta 1</Name>
+            <Symbol>AP1B1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AP105A</Synonym>
+              <Synonym lang="en">BAM22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100280</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q10567</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q10567</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19057675[PMID]</SourceOfValidation>
+          <Gene id="18005">
+            <Name lang="en">adaptor related protein complex 1 subunit sigma 1</Name>
+            <Symbol>AP1S1</Symbol>
+            <SynonymList count="11">
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+              <Synonym lang="en">AP19</Synonym>
+              <Synonym lang="en">HA1 19 kDa subunit</Synonym>
+              <Synonym lang="en">SIGMA1A</Synonym>
+              <Synonym lang="en">WUGSC:H_DJ0747G18.2</Synonym>
+              <Synonym lang="en">clathrin assembly protein complex 1 sigma-1A small chain</Synonym>
+              <Synonym lang="en">clathrin coat assembly protein AP19</Synonym>
+              <Synonym lang="en">clathrin-associated/assembly/adaptor protein, small 1 (19kD)</Synonym>
+              <Synonym lang="en">golgi adaptor HA1/AP1 adaptin sigma-1A subunit</Synonym>
+              <Synonym lang="en">sigma1A subunit of AP-1 clathrin adaptor complex</Synonym>
+              <Synonym lang="en">sigma1A-adaptin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106367</Reference>
+              </ExternalReference>
+              <ExternalReference id="40693">
+                <Source>Genatlas</Source>
+                <Reference>AP1S1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40694">
+                <Source>HGNC</Source>
+                <Reference>559</Reference>
+              </ExternalReference>
+              <ExternalReference id="40695">
+                <Source>OMIM</Source>
+                <Reference>603531</Reference>
+              </ExternalReference>
+              <ExternalReference id="60243">
+                <Source>Reactome</Source>
+                <Reference>P61966</Reference>
+              </ExternalReference>
+              <ExternalReference id="40696">
+                <Source>SwissProt</Source>
+                <Reference>P61966</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10565">
+                <GeneLocus>7q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17940">
+      <OrphaCode>171848</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=171848</ExpertLink>
+      <Name lang="en">Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20797687[PMID]</SourceOfValidation>
+          <Gene id="19330">
+            <Name lang="en">abhydrolase domain containing 12, lysophospholipase</Name>
+            <Symbol>ABHD12</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ABHD12A</Synonym>
+              <Synonym lang="en">BEM46L2</Synonym>
+              <Synonym lang="en">DKFZP434P106</Synonym>
+              <Synonym lang="en">dJ965G21.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190486">
+                <Source>IUPHAR</Source>
+                <Reference>3070</Reference>
+              </ExternalReference>
+              <ExternalReference id="60241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100997</Reference>
+              </ExternalReference>
+              <ExternalReference id="47794">
+                <Source>Genatlas</Source>
+                <Reference>ABHD12</Reference>
+              </ExternalReference>
+              <ExternalReference id="47795">
+                <Source>HGNC</Source>
+                <Reference>15868</Reference>
+              </ExternalReference>
+              <ExternalReference id="48346">
+                <Source>OMIM</Source>
+                <Reference>613599</Reference>
+              </ExternalReference>
+              <ExternalReference id="97297">
+                <Source>Reactome</Source>
+                <Reference>Q8N2K0</Reference>
+              </ExternalReference>
+              <ExternalReference id="47796">
+                <Source>SwissProt</Source>
+                <Reference>Q8N2K0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60381">
+                <GeneLocus>20p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="820">
+      <OrphaCode>3303</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3303</ExpertLink>
+      <Name lang="en">Tetralogy of Fallot</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="13">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34113005[PMID]</SourceOfValidation>
+          <Gene id="19140">
+            <Name lang="en">kinase insert domain receptor</Name>
+            <Symbol>KDR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CD309</Synonym>
+              <Synonym lang="en">FLK1</Synonym>
+              <Synonym lang="en">VEGFR</Synonym>
+              <Synonym lang="en">VEGFR2</Synonym>
+              <Synonym lang="en">fetal liver kinase 1</Synonym>
+              <Synonym lang="en">vascular endothelial growth factor receptor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59652">
+                <Source>Reactome</Source>
+                <Reference>P35968</Reference>
+              </ExternalReference>
+              <ExternalReference id="45571">
+                <Source>SwissProt</Source>
+                <Reference>P35968</Reference>
+              </ExternalReference>
+              <ExternalReference id="59651">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128052</Reference>
+              </ExternalReference>
+              <ExternalReference id="45569">
+                <Source>Genatlas</Source>
+                <Reference>KDR</Reference>
+              </ExternalReference>
+              <ExternalReference id="45568">
+                <Source>HGNC</Source>
+                <Reference>6307</Reference>
+              </ExternalReference>
+              <ExternalReference id="83176">
+                <Source>IUPHAR</Source>
+                <Reference>1813</Reference>
+              </ExternalReference>
+              <ExternalReference id="45570">
+                <Source>OMIM</Source>
+                <Reference>191306</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24425">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24702427[PMID]_14517948[PMID]</SourceOfValidation>
+          <Gene id="15741">
+            <Name lang="en">zinc finger protein, FOG family member 2</Name>
+            <Symbol>ZFPM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FOG2</Synonym>
+              <Synonym lang="en">ZC2HC11B</Synonym>
+              <Synonym lang="en">ZNF89B</Synonym>
+              <Synonym lang="en">hFOG-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57348">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169946</Reference>
+              </ExternalReference>
+              <ExternalReference id="37406">
+                <Source>Genatlas</Source>
+                <Reference>ZFPM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27968">
+                <Source>HGNC</Source>
+                <Reference>16700</Reference>
+              </ExternalReference>
+              <ExternalReference id="27967">
+                <Source>OMIM</Source>
+                <Reference>603693</Reference>
+              </ExternalReference>
+              <ExternalReference id="57349">
+                <Source>Reactome</Source>
+                <Reference>Q8WW38</Reference>
+              </ExternalReference>
+              <ExternalReference id="32713">
+                <Source>SwissProt</Source>
+                <Reference>Q8WW38</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7961">
+                <GeneLocus>8q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24000169[PMID]</SourceOfValidation>
+          <Gene id="16104">
+            <Name lang="en">GATA binding protein 4</Name>
+            <Symbol>GATA4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136574</Reference>
+              </ExternalReference>
+              <ExternalReference id="29724">
+                <Source>Genatlas</Source>
+                <Reference>GATA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="29726">
+                <Source>HGNC</Source>
+                <Reference>4173</Reference>
+              </ExternalReference>
+              <ExternalReference id="29725">
+                <Source>OMIM</Source>
+                <Reference>600576</Reference>
+              </ExternalReference>
+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+              <ExternalReference id="33119">
+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25853">
+                <GeneLocus>8p23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21893051[PMID]</SourceOfValidation>
+          <Gene id="16278">
+            <Name lang="en">jagged canonical Notch ligand 1</Name>
+            <Symbol>JAG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AHD</Synonym>
+              <Synonym lang="en">AWS</Synonym>
+              <Synonym lang="en">CD339</Synonym>
+              <Synonym lang="en">HJ1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101384</Reference>
+              </ExternalReference>
+              <ExternalReference id="30554">
+                <Source>Genatlas</Source>
+                <Reference>JAG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30556">
+                <Source>HGNC</Source>
+                <Reference>6188</Reference>
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+              <ExternalReference id="30555">
+                <Source>OMIM</Source>
+                <Reference>601920</Reference>
+              </ExternalReference>
+              <ExternalReference id="57707">
+                <Source>Reactome</Source>
+                <Reference>P78504</Reference>
+              </ExternalReference>
+              <ExternalReference id="33343">
+                <Source>SwissProt</Source>
+                <Reference>P78504</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20923">
+                <GeneLocus>20p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29045289[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
+              </ExternalReference>
+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+              <ExternalReference id="31819">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31821">
+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
+              </ExternalReference>
+              <ExternalReference id="31820">
+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
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+              <Locus id="16731">
+                <GeneLocus>5q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23289003[PMID]</SourceOfValidation>
+          <Gene id="21188">
+            <Name lang="en">GATA binding protein 5</Name>
+            <Symbol>GATA5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GATAS</Synonym>
+              <Synonym lang="en">bB379O24.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="69832">
+                <Source>HGNC</Source>
+                <Reference>15802</Reference>
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+              <ExternalReference id="69833">
+                <Source>OMIM</Source>
+                <Reference>611496</Reference>
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+              <ExternalReference id="83425">
+                <Source>Reactome</Source>
+                <Reference>Q9BWX5</Reference>
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+              <ExternalReference id="69835">
+                <Source>SwissProt</Source>
+                <Reference>Q9BWX5</Reference>
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+              <ExternalReference id="83426">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130700</Reference>
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+              <ExternalReference id="69834">
+                <Source>Genatlas</Source>
+                <Reference>GATA5</Reference>
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+            <LocusList count="1">
+              <Locus id="12025">
+                <GeneLocus>20q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22713807[PMID]</SourceOfValidation>
+          <Gene id="16800">
+            <Name lang="en">gap junction protein alpha 5</Name>
+            <Symbol>GJA5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CX40</Synonym>
+              <Synonym lang="en">connexin 40</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190409">
+                <Source>IUPHAR</Source>
+                <Reference>726</Reference>
+              </ExternalReference>
+              <ExternalReference id="95171">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000265107</Reference>
+              </ExternalReference>
+              <ExternalReference id="35001">
+                <Source>Genatlas</Source>
+                <Reference>GJA5</Reference>
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+              <ExternalReference id="34998">
+                <Source>HGNC</Source>
+                <Reference>4279</Reference>
+              </ExternalReference>
+              <ExternalReference id="35000">
+                <Source>OMIM</Source>
+                <Reference>121013</Reference>
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+              <ExternalReference id="57894">
+                <Source>Reactome</Source>
+                <Reference>P36382</Reference>
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+              <ExternalReference id="34999">
+                <Source>SwissProt</Source>
+                <Reference>P36382</Reference>
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+              <Locus id="60227">
+                <GeneLocus>1q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25195019[PMID]</SourceOfValidation>
+          <Gene id="17359">
+            <Name lang="en">NK2 homeobox 6</Name>
+            <Symbol>NKX2-6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CSX2</Synonym>
+              <Synonym lang="en">NKX4-2</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="37018">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>32940</Reference>
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+              <ExternalReference id="37591">
+                <Source>OMIM</Source>
+                <Reference>611770</Reference>
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+              <ExternalReference id="37021">
+                <Source>SwissProt</Source>
+                <Reference>A6NCS4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180053</Reference>
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+            <LocusList count="1">
+              <Locus id="10085">
+                <GeneLocus>8p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17681">
+            <Name lang="en">growth differentiation factor 1</Name>
+            <Symbol>GDF1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="38903">
+                <Source>SwissProt</Source>
+                <Reference>P27539</Reference>
+              </ExternalReference>
+              <ExternalReference id="57704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130283</Reference>
+              </ExternalReference>
+              <ExternalReference id="38900">
+                <Source>Genatlas</Source>
+                <Reference>GDF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="38901">
+                <Source>HGNC</Source>
+                <Reference>4214</Reference>
+              </ExternalReference>
+              <ExternalReference id="38902">
+                <Source>OMIM</Source>
+                <Reference>602880</Reference>
+              </ExternalReference>
+              <ExternalReference id="57705">
+                <Source>Reactome</Source>
+                <Reference>P27539</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10349">
+                <GeneLocus>19p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19344">
+            <Name lang="en">Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2</Name>
+            <Symbol>CITED2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MRG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57703">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164442</Reference>
+              </ExternalReference>
+              <ExternalReference id="48149">
+                <Source>Genatlas</Source>
+                <Reference>CITED2</Reference>
+              </ExternalReference>
+              <ExternalReference id="48150">
+                <Source>HGNC</Source>
+                <Reference>1987</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>602937</Reference>
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+              <ExternalReference id="98085">
+                <Source>Reactome</Source>
+                <Reference>Q99967</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99967</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20581743[PMID]</SourceOfValidation>
+          <Gene id="20796">
+            <Name lang="en">GATA binding protein 6</Name>
+            <Symbol>GATA6</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141448</Reference>
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+              <ExternalReference id="60725">
+                <Source>Genatlas</Source>
+                <Reference>GATA6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4174</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601656</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92908</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92908</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30232381[PMID]</SourceOfValidation>
+          <Gene id="16061">
+            <Name lang="en">fms related receptor tyrosine kinase 4</Name>
+            <Symbol>FLT4</Symbol>
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+              <Synonym lang="en">Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4</Synonym>
+              <Synonym lang="en">PCL</Synonym>
+              <Synonym lang="en">VEGF receptor-3</Synonym>
+              <Synonym lang="en">VEGFR-3</Synonym>
+              <Synonym lang="en">VEGFR3</Synonym>
+              <Synonym lang="en">primary congenital lymphedema</Synonym>
+              <Synonym lang="en">vascular endothelial growth factor receptor 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59411">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000037280</Reference>
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+              <ExternalReference id="29519">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>1814</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136352</Reference>
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+              <ExternalReference id="59412">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35916</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20937753[PMID]</SourceOfValidation>
+          <Gene id="15584">
+            <Name lang="en">T-box transcription factor 1</Name>
+            <Symbol>TBX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CATCH22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184058</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11592</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43435</Reference>
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+                <GeneLocus>22q11.21</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="18421">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=200418</ExpertLink>
+      <Name lang="en">Immunodeficiency with factor I anomaly</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="15438">
+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
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+              <Synonym lang="en">C3b-INA</Synonym>
+              <Synonym lang="en">C3b-inactivator</Synonym>
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+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59694">
+                <Source>Reactome</Source>
+                <Reference>P05156</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P05156</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+            <GeneType id="25993">
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14697</Reference>
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+              <ExternalReference id="104010">
+                <Source>Reactome</Source>
+                <Reference>Q14697</Reference>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31395617[PMID]</SourceOfValidation>
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+              <Synonym lang="en">dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9H6U8</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>OMIM</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34890546[PMID]</SourceOfValidation>
+          <Gene id="21155">
+            <Name lang="en">intraflagellar transport 140</Name>
+            <Symbol>IFT140</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0590</Synonym>
+              <Synonym lang="en">gs114</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83376">
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+                <Reference>ENSG00000187535</Reference>
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+              <ExternalReference id="69514">
+                <Source>Genatlas</Source>
+                <Reference>IFT140</Reference>
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+              <ExternalReference id="69512">
+                <Source>HGNC</Source>
+                <Reference>29077</Reference>
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+              <ExternalReference id="69513">
+                <Source>OMIM</Source>
+                <Reference>614620</Reference>
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+              <ExternalReference id="97325">
+                <Source>Reactome</Source>
+                <Reference>Q96RY7</Reference>
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+              <ExternalReference id="69515">
+                <Source>SwissProt</Source>
+                <Reference>Q96RY7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18422">
+      <OrphaCode>200421</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=200421</ExpertLink>
+      <Name lang="en">Immunodeficiency with factor H anomaly</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
+            <Symbol>CFH</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ARMD4</Synonym>
+              <Synonym lang="en">ARMS1</Synonym>
+              <Synonym lang="en">FHL1</Synonym>
+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58480">
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+                <Reference>ENSG00000000971</Reference>
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+              <ExternalReference id="26516">
+                <Source>Genatlas</Source>
+                <Reference>CFH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4883</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134370</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08603</Reference>
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+              <ExternalReference id="32406">
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+                <Reference>P08603</Reference>
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+      <Name lang="en">Autosomal dominant severe congenital neutropenia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">T cell immune regulator 1, ATPase H+ transporting V0 subunit a3</Name>
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+              <Synonym lang="en">ATP6N1C</Synonym>
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+              <Synonym lang="en">OC116</Synonym>
+              <Synonym lang="en">T-cell immune response cDNA 7</Synonym>
+              <Synonym lang="en">TIRC7</Synonym>
+              <Synonym lang="en">V-ATPase subunit a3</Synonym>
+              <Synonym lang="en">a3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110719</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11647</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13488</Reference>
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+                <Reference>Q13488</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>825</Reference>
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+          <Gene id="15969">
+            <Name lang="en">elastase, neutrophil expressed</Name>
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+              <Synonym lang="en">HLE</Synonym>
+              <Synonym lang="en">HNE</Synonym>
+              <Synonym lang="en">NE</Synonym>
+              <Synonym lang="en">PMN Elastase</Synonym>
+              <Synonym lang="en">PMN-E</Synonym>
+              <Synonym lang="en">leukocyte elastase</Synonym>
+              <Synonym lang="en">medullasin</Synonym>
+              <Synonym lang="en">neutrophil elastase</Synonym>
+              <Synonym lang="en">polymorphonuclear leukocyte elastase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
+                <Reference>P43694</Reference>
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+              <ExternalReference id="33119">
+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21110066[PMID]_21165553[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33614">
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+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
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+                <Reference>2488</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25380965[PMID]</SourceOfValidation>
+          <Gene id="17359">
+            <Name lang="en">NK2 homeobox 6</Name>
+            <Symbol>NKX2-6</Symbol>
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+              <Synonym lang="en">NKX4-2</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>NKX2-6</Reference>
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+              <ExternalReference id="37019">
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+                <Reference>32940</Reference>
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+                <Reference>611770</Reference>
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+              <ExternalReference id="37021">
+                <Source>SwissProt</Source>
+                <Reference>A6NCS4</Reference>
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+              <ExternalReference id="58371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180053</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="829">
+      <OrphaCode>330</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=330</ExpertLink>
+      <Name lang="en">Congenital factor XII deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20386432[PMID]_22043782[PMID]</SourceOfValidation>
+          <Gene id="16010">
+            <Name lang="en">coagulation factor XII</Name>
+            <Symbol>F12</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57717">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131187</Reference>
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+              <ExternalReference id="29257">
+                <Source>Genatlas</Source>
+                <Reference>F12</Reference>
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+                <Reference>3530</Reference>
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+              <ExternalReference id="82908">
+                <Source>IUPHAR</Source>
+                <Reference>2361</Reference>
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+                <Reference>610619</Reference>
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+              <ExternalReference id="57718">
+                <Source>Reactome</Source>
+                <Reference>P00748</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00748</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18405">
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+      <Name lang="en">Muscular dystrophy, Selcen type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19085932[PMID]</SourceOfValidation>
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+            <Name lang="en">BAG cochaperone 3</Name>
+            <Symbol>BAG3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BAG family molecular chaperone regulator 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57448">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151929</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BAG3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>939</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O95817</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95817</Reference>
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+    <Disorder id="18404">
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+      <Name lang="en">Pancreatic insufficiency-anemia-hyperostosis syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="18452">
+            <Name lang="en">cytochrome c oxidase subunit 4I2</Name>
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+              <Synonym lang="en">COX4B</Synonym>
+              <Synonym lang="en">COXIV-2</Synonym>
+              <Synonym lang="en">cytochrome c oxidase subunit IV-like 2</Synonym>
+              <Synonym lang="en">dJ857M17.2</Synonym>
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+                <Reference>ENSG00000131055</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COX4I2</Reference>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+          <Gene id="15054">
+            <Name lang="en">ATP binding cassette subfamily C member 2</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Thiamine-responsive encephalopathy</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">THTR2</Synonym>
+              <Synonym lang="en">thiamine transporter 2</Synonym>
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+                <Reference>Q9BZV2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135917</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Takayasu arteritis</Name>
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+            <Name lang="en">major histocompatibility complex, class I, B</Name>
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+                <Reference>ENSG00000234745</Reference>
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+                <Reference>HLA-B</Reference>
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+                <Reference>P01889</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P30486</Reference>
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+              <Synonym lang="en">cytotoxic lymphocyte maturation factor 2, p40</Synonym>
+              <Synonym lang="en">interleukin 12, p40</Synonym>
+              <Synonym lang="en">interleukin-12 beta chain</Synonym>
+              <Synonym lang="en">natural killer cell stimulatory factor, 40 kD subunit</Synonym>
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+                <Reference>161561</Reference>
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+                <Reference>P29460</Reference>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>23830516[PMID]_23830507[PMID]</SourceOfValidation>
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+            <Symbol>MLX</Symbol>
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+              <Synonym lang="en">MXD7</Synonym>
+              <Synonym lang="en">bHLHd13</Synonym>
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+                <Source>Reactome</Source>
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+            <LocusList count="1">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>199343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=199343</ExpertLink>
+      <Name lang="en">EAST syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 10</Name>
+            <Symbol>KCNJ10</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">Kir4.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59618">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177807</Reference>
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+              <ExternalReference id="41808">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ10</Reference>
+              </ExternalReference>
+              <ExternalReference id="41809">
+                <Source>HGNC</Source>
+                <Reference>6256</Reference>
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+                <Source>IUPHAR</Source>
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+                <Reference>602208</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P78508</Reference>
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+      <Name lang="en">Isolated autosomal dominant hypomagnesemia, Glaudemans type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium voltage-gated channel subfamily A member 1</Name>
+            <Symbol>KCNA1</Symbol>
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+              <Synonym lang="en">Kv1.1</Synonym>
+              <Synonym lang="en">MBK1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111262</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>6218</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Endocrine-cerebro-osteodysplasia syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ciliogenesis associated kinase 1</Name>
+            <Symbol>CILK1</Symbol>
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+              <Synonym lang="en">KIAA0936</Synonym>
+              <Synonym lang="en">LCK2</Synonym>
+              <Synonym lang="en">MAK-related kinase</Synonym>
+              <Synonym lang="en">MGC46090</Synonym>
+              <Synonym lang="en">MRK</Synonym>
+              <Synonym lang="en">serine/threonine-protein kinase ICK</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143002">
+                <Source>Reactome</Source>
+                <Reference>Q9UPZ9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPZ9</Reference>
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+              <ExternalReference id="60290">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112144</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ICK</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15105">
+            <Name lang="en">phospholipase A2 group VI</Name>
+            <Symbol>PLA2G6</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">NBIA2</Synonym>
+              <Synonym lang="en">Neurodegeneration with brain iron accumulation 2</Synonym>
+              <Synonym lang="en">PARK14</Synonym>
+              <Synonym lang="en">PNPLA9</Synonym>
+              <Synonym lang="en">iPLA2</Synonym>
+              <Synonym lang="en">iPLA2beta</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193558">
+                <Source>IUPHAR</Source>
+                <Reference>1431</Reference>
+              </ExternalReference>
+              <ExternalReference id="24932">
+                <Source>Genatlas</Source>
+                <Reference>PLA2G6</Reference>
+              </ExternalReference>
+              <ExternalReference id="24930">
+                <Source>HGNC</Source>
+                <Reference>9039</Reference>
+              </ExternalReference>
+              <ExternalReference id="24929">
+                <Source>OMIM</Source>
+                <Reference>603604</Reference>
+              </ExternalReference>
+              <ExternalReference id="82740">
+                <Source>Reactome</Source>
+                <Reference>O60733</Reference>
+              </ExternalReference>
+              <ExternalReference id="32796">
+                <Source>SwissProt</Source>
+                <Reference>O60733</Reference>
+              </ExternalReference>
+              <ExternalReference id="59001">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184381</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66525">
+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="809">
+      <OrphaCode>356</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=356</ExpertLink>
+      <Name lang="en">Gerstmann-Straussler-Scheinker syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301407[PMID]</SourceOfValidation>
+          <Gene id="15142">
+            <Name lang="en">prion protein</Name>
+            <Symbol>PRNP</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AltPrP</Synonym>
+              <Synonym lang="en">CD230</Synonym>
+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171867</Reference>
+              </ExternalReference>
+              <ExternalReference id="25113">
+                <Source>Genatlas</Source>
+                <Reference>PRNP</Reference>
+              </ExternalReference>
+              <ExternalReference id="25111">
+                <Source>HGNC</Source>
+                <Reference>9449</Reference>
+              </ExternalReference>
+              <ExternalReference id="25110">
+                <Source>OMIM</Source>
+                <Reference>176640</Reference>
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+              <ExternalReference id="57624">
+                <Source>Reactome</Source>
+                <Reference>P04156</Reference>
+              </ExternalReference>
+              <ExternalReference id="33253">
+                <Source>SwissProt</Source>
+                <Reference>P04156</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6853">
+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="810">
+      <OrphaCode>466</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466</ExpertLink>
+      <Name lang="en">Fatal familial insomnia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301407[PMID]</SourceOfValidation>
+          <Gene id="15142">
+            <Name lang="en">prion protein</Name>
+            <Symbol>PRNP</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AltPrP</Synonym>
+              <Synonym lang="en">CD230</Synonym>
+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171867</Reference>
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+              <ExternalReference id="25113">
+                <Source>Genatlas</Source>
+                <Reference>PRNP</Reference>
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+              <ExternalReference id="25111">
+                <Source>HGNC</Source>
+                <Reference>9449</Reference>
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+              <ExternalReference id="25110">
+                <Source>OMIM</Source>
+                <Reference>176640</Reference>
+              </ExternalReference>
+              <ExternalReference id="57624">
+                <Source>Reactome</Source>
+                <Reference>P04156</Reference>
+              </ExternalReference>
+              <ExternalReference id="33253">
+                <Source>SwissProt</Source>
+                <Reference>P04156</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="789">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3452</ExpertLink>
+      <Name lang="en">Whipple disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29537367[PMID]</SourceOfValidation>
+          <Gene id="24629">
+            <Name lang="en">interferon regulatory factor 4</Name>
+            <Symbol>IRF4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LSIRF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="131446">
+                <Source>HGNC</Source>
+                <Reference>6119</Reference>
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+              <ExternalReference id="134360">
+                <Source>Reactome</Source>
+                <Reference>Q15306</Reference>
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+              <ExternalReference id="132904">
+                <Source>SwissProt</Source>
+                <Reference>Q15306</Reference>
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+              <ExternalReference id="133435">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137265</Reference>
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+              <ExternalReference id="142820">
+                <Source>Genatlas</Source>
+                <Reference>IRF4</Reference>
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+              <ExternalReference id="132178">
+                <Source>OMIM</Source>
+                <Reference>601900</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>199285</OrphaCode>
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+      <Name lang="en">Hereditary hypercarotenemia and vitamin A deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="18487">
+            <Name lang="en">beta-carotene oxygenase 1</Name>
+            <Symbol>BCO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BCMO</Synonym>
+              <Synonym lang="en">FLJ10730</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135697</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BCMO1</Reference>
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+              <ExternalReference id="42502">
+                <Source>HGNC</Source>
+                <Reference>13815</Reference>
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+              <ExternalReference id="42503">
+                <Source>OMIM</Source>
+                <Reference>605748</Reference>
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+              <ExternalReference id="60283">
+                <Source>Reactome</Source>
+                <Reference>Q9HAY6</Reference>
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+              <ExternalReference id="42504">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAY6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">GTP cyclohydrolase I deficiency</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16109">
+            <Name lang="en">GTP cyclohydrolase 1</Name>
+            <Symbol>GCH1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DYT5a</Synonym>
+              <Synonym lang="en">GTP cyclohydrolase I</Synonym>
+              <Synonym lang="en">GTPCH1</Synonym>
+              <Synonym lang="en">dopa-responsive dystonia</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57683">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131979</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GCH1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4193</Reference>
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+                <Reference>600225</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P30793</Reference>
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+      <Name lang="en">Immune thrombocytopenia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="25278">
+            <Name lang="en">Fc gamma receptor IIc (gene/pseudogene)</Name>
+            <Symbol>FCGR2C</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD32C</Synonym>
+              <Synonym lang="en">Fc gamma receptor IIc</Synonym>
+              <Synonym lang="en">hFcRII-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>15626</Reference>
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+              <ExternalReference id="142869">
+                <Source>SwissProt</Source>
+                <Reference>P31995</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244682</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612169</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FCGR2C</Reference>
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+            <Name lang="en">Not yet assessed</Name>
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+            <Name lang="en">cholinergic receptor nicotinic alpha 7 subunit</Name>
+            <Symbol>CHRNA7</Symbol>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 7 (neuronal)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>CHRNA7</Reference>
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+                <Reference>1960</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>468</Reference>
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+                <Reference>118511</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P36544</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">glycoprotein Ib platelet subunit alpha</Name>
+            <Symbol>GP1BA</Symbol>
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+              <Synonym lang="en">CD42b</Synonym>
+              <Synonym lang="en">GPIbalpha</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185245</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GP1BA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4439</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606672</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P07359</Reference>
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+            <Name lang="en">glycoprotein Ib platelet subunit beta</Name>
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+              <Synonym lang="en">GPIbbeta</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib beta chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000203618</Reference>
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+                <Reference>4440</Reference>
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+                <Reference>P13224</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22886561[PMID]</SourceOfValidation>
+          <Gene id="16159">
+            <Name lang="en">glycoprotein IX platelet</Name>
+            <Symbol>GP9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD42a</Synonym>
+              <Synonym lang="en">GPIX</Synonym>
+              <Synonym lang="en">platelet glycoprotein IX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000169704</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Reference>173515</Reference>
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+                <Reference>P14770</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Congenital atransferrinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15600">
+            <Name lang="en">transferrin</Name>
+            <Symbol>TF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PRO1557</Synonym>
+              <Synonym lang="en">PRO2086</Synonym>
+              <Synonym lang="en">serotransferrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57687">
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+                <Reference>ENSG00000091513</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11740</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190000</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02787</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02787</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18394">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=199302</ExpertLink>
+      <Name lang="en">Isolated cleft lip</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">tumor protein p63</Name>
+            <Symbol>TP63</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TP63</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9H3D4</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17438386[PMID]</SourceOfValidation>
+          <Gene id="16269">
+            <Name lang="en">interferon regulatory factor 6</Name>
+            <Symbol>IRF6</Symbol>
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+              <Synonym lang="en">VWS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>35147171[PMID]</SourceOfValidation>
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+            <Name lang="en">platelet derived growth factor receptor alpha</Name>
+            <Symbol>PDGFRA</Symbol>
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+                <Reference>ENSG00000134853</Reference>
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+          <SourceOfValidation>12807959[PMID]</SourceOfValidation>
+          <Gene id="16468">
+            <Name lang="en">msh homeobox 1</Name>
+            <Symbol>MSX1</Symbol>
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+              <Synonym lang="en">OFC5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163132</Reference>
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+            <Name lang="en">discs large MAGUK scaffold protein 1</Name>
+            <Symbol>DLG1</Symbol>
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+              <Synonym lang="en">SAP97</Synonym>
+              <Synonym lang="en">dJ1061C18.1.1</Synonym>
+              <Synonym lang="en">discs large homolog 1</Synonym>
+              <Synonym lang="en">hdlg</Synonym>
+              <Synonym lang="en">presynaptic protein SAP97</Synonym>
+              <Synonym lang="en">synapse-associated protein 97</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+    <Disorder id="775">
+      <OrphaCode>976</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=976</ExpertLink>
+      <Name lang="en">Adenine phosphoribosyltransferase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22934314[PMID]_22700886[PMID]</SourceOfValidation>
+          <Gene id="15943">
+            <Name lang="en">adenine phosphoribosyltransferase</Name>
+            <Symbol>APRT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57678">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198931</Reference>
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+              <ExternalReference id="28917">
+                <Source>Genatlas</Source>
+                <Reference>APRT</Reference>
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+              <ExternalReference id="28915">
+                <Source>HGNC</Source>
+                <Reference>626</Reference>
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+              <ExternalReference id="28914">
+                <Source>OMIM</Source>
+                <Reference>102600</Reference>
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+              <ExternalReference id="57679">
+                <Source>Reactome</Source>
+                <Reference>P07741</Reference>
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+              <ExternalReference id="32954">
+                <Source>SwissProt</Source>
+                <Reference>P07741</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Sarcosinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22825317[PMID]</SourceOfValidation>
+          <Gene id="15245">
+            <Name lang="en">sarcosine dehydrogenase</Name>
+            <Symbol>SARDH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SDH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100291">
+                <Source>Reactome</Source>
+                <Reference>Q9UL12</Reference>
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+              <ExternalReference id="25593">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="25595">
+                <Source>HGNC</Source>
+                <Reference>10536</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604455</Reference>
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+              <ExternalReference id="33803">
+                <Source>SwissProt</Source>
+                <Reference>Q9UL12</Reference>
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+              <ExternalReference id="57675">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123453</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=415</ExpertLink>
+      <Name lang="en">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22649802[PMID]</SourceOfValidation>
+          <Gene id="15310">
+            <Name lang="en">solute carrier family 25 member 15</Name>
+            <Symbol>SLC25A15</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">D13S327</Synonym>
+              <Synonym lang="en">ORC1</Synonym>
+              <Synonym lang="en">ornithine carrier 1</Synonym>
+              <Synonym lang="en">ornithine transporter 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+              <ExternalReference id="57671">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102743</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC25A15</Reference>
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+              <ExternalReference id="25907">
+                <Source>HGNC</Source>
+                <Reference>10985</Reference>
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+              <ExternalReference id="25906">
+                <Source>OMIM</Source>
+                <Reference>603861</Reference>
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+              <ExternalReference id="57672">
+                <Source>Reactome</Source>
+                <Reference>Q9Y619</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y619</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">6-pyruvoyl-tetrahydropterin synthase deficiency</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="15172">
+            <Name lang="en">6-pyruvoyltetrahydropterin synthase</Name>
+            <Symbol>PTS</Symbol>
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+              <Synonym lang="en">PTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150787</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57674">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q03393</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Primary sclerosing cholangitis</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">semaphorin 4D</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187764</Reference>
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+                <Source>OMIM</Source>
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+                <Source>IUPHAR</Source>
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+          <SourceOfValidation>22821403[PMID]</SourceOfValidation>
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+                <Reference>ENSG00000178623</Reference>
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+                <Reference>4492</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>102</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HC97</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">serpin family A member 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Familial isolated hypoparathyroidism due to impaired PTH secretion</Name>
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+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2212001[PMID]_10523031[PMID]_22722080[PMID]</SourceOfValidation>
+          <Gene id="15168">
+            <Name lang="en">parathyroid hormone</Name>
+            <Symbol>PTH</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">PTH1</Synonym>
+              <Synonym lang="en">parathormone</Synonym>
+              <Synonym lang="en">parathyrin</Synonym>
+              <Synonym lang="en">parathyroid hormone 1</Synonym>
+              <Synonym lang="en">prepro-PTH</Synonym>
+              <Synonym lang="en">preproparathyroid hormone</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60279">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152266</Reference>
+              </ExternalReference>
+              <ExternalReference id="25234">
+                <Source>Genatlas</Source>
+                <Reference>PTH</Reference>
+              </ExternalReference>
+              <ExternalReference id="25232">
+                <Source>HGNC</Source>
+                <Reference>9606</Reference>
+              </ExternalReference>
+              <ExternalReference id="25231">
+                <Source>OMIM</Source>
+                <Reference>168450</Reference>
+              </ExternalReference>
+              <ExternalReference id="60280">
+                <Source>Reactome</Source>
+                <Reference>P01270</Reference>
+              </ExternalReference>
+              <ExternalReference id="33692">
+                <Source>SwissProt</Source>
+                <Reference>P01270</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18533">
+                <GeneLocus>11p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28323927[PMID]</SourceOfValidation>
+          <Gene id="15481">
+            <Name lang="en">autoimmune regulator</Name>
+            <Symbol>AIRE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">APS1</Synonym>
+              <Synonym lang="en">PGA1</Synonym>
+              <Synonym lang="en">autoimmune polyendocrinopathy candidiasis ectodermal dystrophy</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160224</Reference>
+              </ExternalReference>
+              <ExternalReference id="26737">
+                <Source>Genatlas</Source>
+                <Reference>AIRE</Reference>
+              </ExternalReference>
+              <ExternalReference id="26735">
+                <Source>HGNC</Source>
+                <Reference>360</Reference>
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+              <ExternalReference id="26734">
+                <Source>OMIM</Source>
+                <Reference>607358</Reference>
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+              <ExternalReference id="32452">
+                <Source>SwissProt</Source>
+                <Reference>O43918</Reference>
+              </ExternalReference>
+              <ExternalReference id="143379">
+                <Source>Reactome</Source>
+                <Reference>O43918</Reference>
+              </ExternalReference>
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+                <GeneLocus>21q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="776">
+      <OrphaCode>17</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=17</ExpertLink>
+      <Name lang="en">Fatal infantile lactic acidosis with methylmalonic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19526370[PMID]_21639866[PMID]</SourceOfValidation>
+          <Gene id="17223">
+            <Name lang="en">succinate-CoA ligase GDP/ADP-forming subunit alpha</Name>
+            <Symbol>SUCLG1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57680">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163541</Reference>
+              </ExternalReference>
+              <ExternalReference id="36385">
+                <Source>Genatlas</Source>
+                <Reference>SUCLG1</Reference>
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+              <ExternalReference id="36384">
+                <Source>HGNC</Source>
+                <Reference>11449</Reference>
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+              <ExternalReference id="36386">
+                <Source>OMIM</Source>
+                <Reference>611224</Reference>
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+              <ExternalReference id="57681">
+                <Source>Reactome</Source>
+                <Reference>P53597</Reference>
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+              <ExternalReference id="37603">
+                <Source>SwissProt</Source>
+                <Reference>P53597</Reference>
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+                <GeneLocus>2p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>189439</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=189439</ExpertLink>
+      <Name lang="en">Primary pigmented nodular adrenocortical disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26042218[PMID]</SourceOfValidation>
+          <Gene id="22913">
+            <Name lang="en">protein kinase cAMP-activated catalytic subunit alpha</Name>
+            <Symbol>PRKACA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKACa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072062</Reference>
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+              <ExternalReference id="90480">
+                <Source>Genatlas</Source>
+                <Reference>PRKACA</Reference>
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+              <ExternalReference id="90478">
+                <Source>HGNC</Source>
+                <Reference>9380</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1476</Reference>
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+              <ExternalReference id="90479">
+                <Source>OMIM</Source>
+                <Reference>601639</Reference>
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+              <ExternalReference id="91638">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P17612</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24805858[PMID]</SourceOfValidation>
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+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit alpha</Name>
+            <Symbol>PRKAR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNC1</Synonym>
+              <Synonym lang="en">Carney complex type 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108946</Reference>
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+                <Reference>1472</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Symbol>PDE11A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Symbol>PDE8B</Symbol>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">aldehyde dehydrogenase 7 family member A1</Name>
+            <Symbol>ALDH7A1</Symbol>
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+              <Synonym lang="en">26g turgor protein homolog</Synonym>
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+              <Synonym lang="en">alpha-AASA dehydrogenase</Synonym>
+              <Synonym lang="en">alpha-aminoadipic semialdehyde dehydrogenase</Synonym>
+              <Synonym lang="en">antiquitin 1</Synonym>
+              <Synonym lang="en">delta1-piperideine-6-carboxylate dehydrogenease</Synonym>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111700</Reference>
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+              <ExternalReference id="61078">
+                <Source>Genatlas</Source>
+                <Reference>SLCO1B3</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="885">
+      <OrphaCode>2382</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2382</ExpertLink>
+      <Name lang="en">Lennox-Gastaut syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29630738[PMID]</SourceOfValidation>
+          <Gene id="24447">
+            <Name lang="en">cut like homeobox 2</Name>
+            <Symbol>CUX2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDP2</Synonym>
+              <Synonym lang="en">KIAA0293</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="144072">
+                <Source>Genatlas</Source>
+                <Reference>CUX2</Reference>
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+              <ExternalReference id="132722">
+                <Source>SwissProt</Source>
+                <Reference>O14529</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610648</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111249</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17347258[PMID]_20301494[PMID]_19782004[PMID]</SourceOfValidation>
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+            <Name lang="en">sodium voltage-gated channel alpha subunit 1</Name>
+            <Symbol>SCN1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEFSP2</Synonym>
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">NAC1</Synonym>
+              <Synonym lang="en">Nav1.1</Synonym>
+              <Synonym lang="en">SMEI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144285</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>10585</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>578</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P35498</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16249883[PMID]</SourceOfValidation>
+          <Gene id="19563">
+            <Name lang="en">mitogen-activated protein kinase 10</Name>
+            <Symbol>MAPK10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">JNK3</Synonym>
+              <Synonym lang="en">p493F12</Synonym>
+              <Synonym lang="en">p54bSAPK</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000109339</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MAPK10</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6872</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1498</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23708187[PMID]</SourceOfValidation>
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+              <Synonym lang="en">DKFZp547I1315</Synonym>
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+              <Synonym lang="en">DKFZp781D1727</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173575</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">dynamin 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">glutamate metabotropic receptor 7</Name>
+            <Symbol>GRM7</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="200316">
+                <Source>HGNC</Source>
+                <Reference>4599</Reference>
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+              <ExternalReference id="200930">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196277</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604101</Reference>
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+              <ExternalReference id="200932">
+                <Source>IUPHAR</Source>
+                <Reference>295</Reference>
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+              <ExternalReference id="200933">
+                <Source>SwissProt</Source>
+                <Reference>Q14831</Reference>
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+                <GeneLocus>3p26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23550958[PMID]_23935176[PMID]</SourceOfValidation>
+          <Gene id="15252">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">HBSCII</Synonym>
+              <Synonym lang="en">Nav1.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136531</Reference>
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+              <ExternalReference id="36262">
+                <Source>Genatlas</Source>
+                <Reference>SCN2A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10588</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182390</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q99250</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22196487[PMID]_22787626[PMID]</SourceOfValidation>
+          <Gene id="15424">
+            <Name lang="en">cyclin dependent kinase like 5</Name>
+            <Symbol>CDKL5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CFAP247</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008086</Reference>
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+              <ExternalReference id="36382">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22196487[PMID]_20506206[PMID]_22787626[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
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+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
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+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24278995[PMID]_22709267[PMID]</SourceOfValidation>
+          <Gene id="17592">
+            <Name lang="en">calcium/calmodulin dependent serine protein kinase</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147044</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O14936</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20118933[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">glioblastoma expressed ring finger protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="162837">
+                <Source>HGNC</Source>
+                <Reference>15579</Reference>
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+              <ExternalReference id="162838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171206</Reference>
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+              <ExternalReference id="162839">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZR9</Reference>
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+              <ExternalReference id="162840">
+                <Source>Reactome</Source>
+                <Reference>Q9BZR9</Reference>
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+              <ExternalReference id="162841">
+                <Source>OMIM</Source>
+                <Reference>606125</Reference>
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+            <LocusList count="1">
+              <Locus id="51437">
+                <GeneLocus>10q24.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28334793[PMID]</SourceOfValidation>
+          <Gene id="25443">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class P</Name>
+            <Symbol>PIGP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DCRC</Synonym>
+              <Synonym lang="en">DSRC</Synonym>
+              <Synonym lang="en">phosphatidylinositol-n-acetylglucosaminyltranferase subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>3046</Reference>
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+              <ExternalReference id="144352">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185808</Reference>
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+              <ExternalReference id="144353">
+                <Source>SwissProt</Source>
+                <Reference>P57054</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605938</Reference>
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+              <ExternalReference id="144355">
+                <Source>Genatlas</Source>
+                <Reference>PIGP</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P57054</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="891">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1942</ExpertLink>
+      <Name lang="en">Myoclonic-astatic epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21555602[PMID]_31170314[PMID]</SourceOfValidation>
+          <Gene id="17205">
+            <Name lang="en">solute carrier family 2 member 1</Name>
+            <Symbol>SLC2A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DYT18</Synonym>
+              <Synonym lang="en">DYT9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190430">
+                <Source>IUPHAR</Source>
+                <Reference>875</Reference>
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+              <ExternalReference id="57773">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117394</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC2A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11005</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138140</Reference>
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+              <ExternalReference id="57774">
+                <Source>Reactome</Source>
+                <Reference>P11166</Reference>
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+                <Reference>P11166</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32469098[PMID]</SourceOfValidation>
+          <Gene id="18361">
+            <Name lang="en">synaptic Ras GTPase activating protein 1</Name>
+            <Symbol>SYNGAP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1938</Synonym>
+              <Synonym lang="en">RASA5</Synonym>
+              <Synonym lang="en">SYNGAP</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197283</Reference>
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+              <ExternalReference id="41759">
+                <Source>Genatlas</Source>
+                <Reference>SYNGAP1</Reference>
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+                <Reference>11497</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PV0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32469098[PMID]</SourceOfValidation>
+          <Gene id="16303">
+            <Name lang="en">neurite extension and migration factor</Name>
+            <Symbol>NEXMIF</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIDLIA</Synonym>
+              <Synonym lang="en">MRX98</Synonym>
+              <Synonym lang="en">XLMR-related protein, neurite extension</Synonym>
+              <Synonym lang="en">XPN</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000050030</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21396429[PMID]</SourceOfValidation>
+          <Gene id="15250">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 1</Name>
+            <Symbol>SCN1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEFSP2</Synonym>
+              <Synonym lang="en">HBSCI</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144285</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>578</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">chromodomain helicase DNA binding protein 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1917</Reference>
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+            <Name lang="en">solute carrier family 6 member 1</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">clathrin assembly protein complex 2 medium chain</Synonym>
+              <Synonym lang="en">clathrin coat adaptor protein AP50</Synonym>
+              <Synonym lang="en">clathrin-associated/assembly/adaptor protein, medium 1</Synonym>
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+              <Synonym lang="en">plasma membrane adaptor AP-2 50kDA protein</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Infantile spasms syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
+          <Gene id="22282">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 2</Name>
+            <Symbol>NTRK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BDNF/NT-3 growth factors receptor</Synonym>
+              <Synonym lang="en">TRKB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="81429">
+                <Source>Genatlas</Source>
+                <Reference>NTRK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="81427">
+                <Source>HGNC</Source>
+                <Reference>8032</Reference>
+              </ExternalReference>
+              <ExternalReference id="83979">
+                <Source>IUPHAR</Source>
+                <Reference>1818</Reference>
+              </ExternalReference>
+              <ExternalReference id="81428">
+                <Source>OMIM</Source>
+                <Reference>600456</Reference>
+              </ExternalReference>
+              <ExternalReference id="83977">
+                <Source>Reactome</Source>
+                <Reference>Q16620</Reference>
+              </ExternalReference>
+              <ExternalReference id="81430">
+                <Source>SwissProt</Source>
+                <Reference>Q16620</Reference>
+              </ExternalReference>
+              <ExternalReference id="83978">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148053</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25115">
+                <GeneLocus>9q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27030146[PMID]</SourceOfValidation>
+          <Gene id="22015">
+            <Name lang="en">WD repeat domain 45</Name>
+            <Symbol>WDR45</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JM5</Synonym>
+              <Synonym lang="en">NBIA5</Synonym>
+              <Synonym lang="en">WIPI4</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="78540">
+                <Source>Genatlas</Source>
+                <Reference>WDR45</Reference>
+              </ExternalReference>
+              <ExternalReference id="78538">
+                <Source>HGNC</Source>
+                <Reference>28912</Reference>
+              </ExternalReference>
+              <ExternalReference id="78539">
+                <Source>OMIM</Source>
+                <Reference>300526</Reference>
+              </ExternalReference>
+              <ExternalReference id="97344">
+                <Source>Reactome</Source>
+                <Reference>Q9Y484</Reference>
+              </ExternalReference>
+              <ExternalReference id="78541">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y484</Reference>
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+              <ExternalReference id="83756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196998</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16935">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23935176[PMID]</SourceOfValidation>
+          <Gene id="15252">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">HBSCII</Synonym>
+              <Synonym lang="en">Nav1.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136531</Reference>
+              </ExternalReference>
+              <ExternalReference id="36262">
+                <Source>Genatlas</Source>
+                <Reference>SCN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25627">
+                <Source>HGNC</Source>
+                <Reference>10588</Reference>
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+              <ExternalReference id="82770">
+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
+              </ExternalReference>
+              <ExternalReference id="25626">
+                <Source>OMIM</Source>
+                <Reference>182390</Reference>
+              </ExternalReference>
+              <ExternalReference id="57765">
+                <Source>Reactome</Source>
+                <Reference>Q99250</Reference>
+              </ExternalReference>
+              <ExternalReference id="33810">
+                <Source>SwissProt</Source>
+                <Reference>Q99250</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7065">
+                <GeneLocus>2q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18564362[PMID]_22196487[PMID]_22787626[PMID]</SourceOfValidation>
+          <Gene id="15424">
+            <Name lang="en">cyclin dependent kinase like 5</Name>
+            <Symbol>CDKL5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CFAP247</Synonym>
+              <Synonym lang="en">EIEE2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="143928">
+                <Source>Reactome</Source>
+                <Reference>O76039</Reference>
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+              <ExternalReference id="32392">
+                <Source>SwissProt</Source>
+                <Reference>O76039</Reference>
+              </ExternalReference>
+              <ExternalReference id="57775">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008086</Reference>
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+              <ExternalReference id="36382">
+                <Source>Genatlas</Source>
+                <Reference>CDKL5</Reference>
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+              <ExternalReference id="26451">
+                <Source>HGNC</Source>
+                <Reference>11411</Reference>
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+              <ExternalReference id="82806">
+                <Source>IUPHAR</Source>
+                <Reference>1986</Reference>
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+              <ExternalReference id="26450">
+                <Source>OMIM</Source>
+                <Reference>300203</Reference>
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+                <GeneLocus>Xp22.13</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20506206[PMID]_22787626[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
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+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="32966">
+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
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+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
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+              <ExternalReference id="28975">
+                <Source>Genatlas</Source>
+                <Reference>ARX</Reference>
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+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
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+              <ExternalReference id="28972">
+                <Source>OMIM</Source>
+                <Reference>300382</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp21.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24357517[PMID]</SourceOfValidation>
+          <Gene id="19197">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class A</Name>
+            <Symbol>PIGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPI3</Synonym>
+              <Synonym lang="en">paroxysmal nocturnal hemoglobinuria</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165195</Reference>
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+              <ExternalReference id="46177">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8957</Reference>
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+              <ExternalReference id="46180">
+                <Source>OMIM</Source>
+                <Reference>311770</Reference>
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+              <ExternalReference id="56711">
+                <Source>Reactome</Source>
+                <Reference>P37287</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P37287</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22196487[PMID]_18065176[PMID]</SourceOfValidation>
+          <Gene id="19240">
+            <Name lang="en">spectrin alpha, non-erythrocytic 1</Name>
+            <Symbol>SPTAN1</Symbol>
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+              <Synonym lang="en">alpha-fodrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57767">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197694</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57768">
+                <Source>Reactome</Source>
+                <Reference>Q13813</Reference>
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+              <ExternalReference id="46765">
+                <Source>SwissProt</Source>
+                <Reference>Q13813</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20833646[PMID]_22196487[PMID]</SourceOfValidation>
+          <Gene id="19817">
+            <Name lang="en">phospholipase C beta 1</Name>
+            <Symbol>PLCB1</Symbol>
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+              <Synonym lang="en">KIAA0581</Synonym>
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+              <Synonym lang="en">phosphoinositide phospholipase C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57771">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182621</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57772">
+                <Source>Reactome</Source>
+                <Reference>Q9NQ66</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q11203</Reference>
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+        <DisorderGeneAssociation>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30256902[PMID]</SourceOfValidation>
+          <Gene id="27777">
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9C0D0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26486472[PMID]</SourceOfValidation>
+          <Gene id="23945">
+            <Name lang="en">GTP binding elongation factor GUF1</Name>
+            <Symbol>GUF1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ13220</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="104206">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151806</Reference>
+              </ExternalReference>
+              <ExternalReference id="104202">
+                <Source>HGNC</Source>
+                <Reference>25799</Reference>
+              </ExternalReference>
+              <ExternalReference id="104203">
+                <Source>OMIM</Source>
+                <Reference>617064</Reference>
+              </ExternalReference>
+              <ExternalReference id="104204">
+                <Source>Genatlas</Source>
+                <Reference>GUF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="104205">
+                <Source>SwissProt</Source>
+                <Reference>Q8N442</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24223">
+                <GeneLocus>4p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29394991[PMID]</SourceOfValidation>
+          <Gene id="26928">
+            <Name lang="en">canopy FGF signaling regulator 3</Name>
+            <Symbol>CNPY3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CAG4A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="157505">
+                <Source>HGNC</Source>
+                <Reference>11968</Reference>
+              </ExternalReference>
+              <ExternalReference id="157506">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137161</Reference>
+              </ExternalReference>
+              <ExternalReference id="157507">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT09</Reference>
+              </ExternalReference>
+              <ExternalReference id="157508">
+                <Source>OMIM</Source>
+                <Reference>610774</Reference>
+              </ExternalReference>
+              <ExternalReference id="157509">
+                <Source>Genatlas</Source>
+                <Reference>CNPY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="157510">
+                <Source>Reactome</Source>
+                <Reference>Q9BT09</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="47787">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="870">
+      <OrphaCode>267</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=267</ExpertLink>
+      <Name lang="en">Calpain-3-related limb-girdle muscular dystrophy R1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15398">
+            <Name lang="en">calpain 3</Name>
+            <Symbol>CAPN3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CANP3</Synonym>
+              <Synonym lang="en">nCL-1</Synonym>
+              <Synonym lang="en">p94</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092529</Reference>
+              </ExternalReference>
+              <ExternalReference id="26330">
+                <Source>Genatlas</Source>
+                <Reference>CAPN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="26328">
+                <Source>HGNC</Source>
+                <Reference>1480</Reference>
+              </ExternalReference>
+              <ExternalReference id="26327">
+                <Source>OMIM</Source>
+                <Reference>114240</Reference>
+              </ExternalReference>
+              <ExternalReference id="32366">
+                <Source>SwissProt</Source>
+                <Reference>P20807</Reference>
+              </ExternalReference>
+              <ExternalReference id="100293">
+                <Source>Reactome</Source>
+                <Reference>P20807</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19161">
+                <GeneLocus>15q15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="874">
+      <OrphaCode>186</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=186</ExpertLink>
+      <Name lang="en">Primary biliary cholangitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16255">
+            <Name lang="en">interleukin 12 receptor subunit beta 1</Name>
+            <Symbol>IL12RB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD212</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100302">
+                <Source>Reactome</Source>
+                <Reference>P42701</Reference>
+              </ExternalReference>
+              <ExternalReference id="57745">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096996</Reference>
+              </ExternalReference>
+              <ExternalReference id="37177">
+                <Source>Genatlas</Source>
+                <Reference>IL12RB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30449">
+                <Source>HGNC</Source>
+                <Reference>5971</Reference>
+              </ExternalReference>
+              <ExternalReference id="30448">
+                <Source>OMIM</Source>
+                <Reference>601604</Reference>
+              </ExternalReference>
+              <ExternalReference id="33320">
+                <Source>SwissProt</Source>
+                <Reference>P42701</Reference>
+              </ExternalReference>
+              <ExternalReference id="193597">
+                <Source>IUPHAR</Source>
+                <Reference>1715</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66603">
+                <GeneLocus>19p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19314">
+            <Name lang="en">Spi-B transcription factor</Name>
+            <Symbol>SPIB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SPI-B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="82673">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269404</Reference>
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+              <ExternalReference id="47719">
+                <Source>Genatlas</Source>
+                <Reference>SPIB</Reference>
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+              <ExternalReference id="47720">
+                <Source>HGNC</Source>
+                <Reference>11242</Reference>
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+              <ExternalReference id="47721">
+                <Source>OMIM</Source>
+                <Reference>606802</Reference>
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+              <ExternalReference id="47722">
+                <Source>SwissProt</Source>
+                <Reference>Q01892</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="18689">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19315">
+            <Name lang="en">interleukin 12A</Name>
+            <Symbol>IL12A</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">CLMF</Synonym>
+              <Synonym lang="en">IL-12, subunit p35</Synonym>
+              <Synonym lang="en">IL-12A</Synonym>
+              <Synonym lang="en">IL35 subunit</Synonym>
+              <Synonym lang="en">NF cell stimulatory factor chain 1</Synonym>
+              <Synonym lang="en">NFSK</Synonym>
+              <Synonym lang="en">cytotoxic lymphocyte maturation factor 1, p35</Synonym>
+              <Synonym lang="en">interleukin 12, p35</Synonym>
+              <Synonym lang="en">interleukin-12 alpha chain</Synonym>
+              <Synonym lang="en">natural killer cell stimulatory factor 1, 35 kD subunit</Synonym>
+              <Synonym lang="en">p35</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57746">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168811</Reference>
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+              <ExternalReference id="47724">
+                <Source>Genatlas</Source>
+                <Reference>IL12A</Reference>
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+              <ExternalReference id="47725">
+                <Source>HGNC</Source>
+                <Reference>5969</Reference>
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+                <Source>OMIM</Source>
+                <Reference>161560</Reference>
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+              <ExternalReference id="98084">
+                <Source>Reactome</Source>
+                <Reference>P29459</Reference>
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+              <ExternalReference id="47727">
+                <Source>SwissProt</Source>
+                <Reference>P29459</Reference>
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+                <GeneLocus>3q25.33</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19316">
+            <Name lang="en">interferon regulatory factor 5</Name>
+            <Symbol>IRF5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IRF-5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57743">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128604</Reference>
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+              <ExternalReference id="47729">
+                <Source>Genatlas</Source>
+                <Reference>IRF5</Reference>
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+              <ExternalReference id="47730">
+                <Source>HGNC</Source>
+                <Reference>6120</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607218</Reference>
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+              <ExternalReference id="57744">
+                <Source>Reactome</Source>
+                <Reference>Q13568</Reference>
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+              <ExternalReference id="47731">
+                <Source>SwissProt</Source>
+                <Reference>Q13568</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19317">
+            <Name lang="en">transportin 3</Name>
+            <Symbol>TNPO3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">IPO12</Synonym>
+              <Synonym lang="en">MTR10A</Synonym>
+              <Synonym lang="en">TRN-SR</Synonym>
+              <Synonym lang="en">TRN-SR2</Synonym>
+              <Synonym lang="en">importin 12</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57749">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064419</Reference>
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+              <ExternalReference id="47734">
+                <Source>Genatlas</Source>
+                <Reference>TNPO3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17103</Reference>
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+              <ExternalReference id="47736">
+                <Source>OMIM</Source>
+                <Reference>610032</Reference>
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+              <ExternalReference id="47737">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5L0</Reference>
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+                <GeneLocus>7q32.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19318">
+            <Name lang="en">membrane metalloendopeptidase like 1</Name>
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+            <SynonymList count="6">
+              <Synonym lang="en">NEPII</Synonym>
+              <Synonym lang="en">NL1</Synonym>
+              <Synonym lang="en">NL2</Synonym>
+              <Synonym lang="en">SEP</Synonym>
+              <Synonym lang="en">neprilysin 2</Synonym>
+              <Synonym lang="en">neprilysin-II</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="190481">
+                <Source>OMIM</Source>
+                <Reference>618104</Reference>
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+              <ExternalReference id="57747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142606</Reference>
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+              <ExternalReference id="47739">
+                <Source>Genatlas</Source>
+                <Reference>MMEL1</Reference>
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+              <ExternalReference id="47740">
+                <Source>HGNC</Source>
+                <Reference>14668</Reference>
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+              <ExternalReference id="47741">
+                <Source>SwissProt</Source>
+                <Reference>Q495T6</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23000144[PMID]</SourceOfValidation>
+          <Gene id="21577">
+            <Name lang="en">POU class 2 homeobox associating factor 1</Name>
+            <Symbol>POU2AF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BOB1</Synonym>
+              <Synonym lang="en">OBF1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110777</Reference>
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+              <ExternalReference id="74759">
+                <Source>Genatlas</Source>
+                <Reference>POU2AF1</Reference>
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+              <ExternalReference id="74757">
+                <Source>HGNC</Source>
+                <Reference>9211</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601206</Reference>
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+              <ExternalReference id="74760">
+                <Source>SwissProt</Source>
+                <Reference>Q16633</Reference>
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+              <ExternalReference id="143805">
+                <Source>Reactome</Source>
+                <Reference>Q16633</Reference>
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+              <Locus id="39073">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23000144[PMID]</SourceOfValidation>
+          <Gene id="21576">
+            <Name lang="en">TNF superfamily member 15</Name>
+            <Symbol>TNFSF15</Symbol>
+            <SynonymList count="12">
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+              <Synonym lang="en">MGC129935</Synonym>
+              <Synonym lang="en">TL1</Synonym>
+              <Synonym lang="en">TL1A</Synonym>
+              <Synonym lang="en">TNF ligand-related molecule 1</Synonym>
+              <Synonym lang="en">TNF superfamily ligand TL1A</Synonym>
+              <Synonym lang="en">VEGI</Synonym>
+              <Synonym lang="en">VEGI192A</Synonym>
+              <Synonym lang="en">Vascular endothelial cell growth inhibitor</Synonym>
+              <Synonym lang="en">Vascular endothelial growth inhibitor-192A</Synonym>
+              <Synonym lang="en">vascular endothelial cell growth inhibitor</Synonym>
+              <Synonym lang="en">vascular endothelial growth inhibitor-192A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83546">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181634</Reference>
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+              <ExternalReference id="74754">
+                <Source>Genatlas</Source>
+                <Reference>TNFSF15</Reference>
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+              <ExternalReference id="74752">
+                <Source>HGNC</Source>
+                <Reference>11931</Reference>
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+              <ExternalReference id="74753">
+                <Source>OMIM</Source>
+                <Reference>604052</Reference>
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+              <ExternalReference id="97334">
+                <Source>Reactome</Source>
+                <Reference>O95150</Reference>
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+              <ExternalReference id="74755">
+                <Source>SwissProt</Source>
+                <Reference>O95150</Reference>
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+              <Locus id="16915">
+                <GeneLocus>9q32</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="875">
+      <OrphaCode>1136</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1136</ExpertLink>
+      <Name lang="en">Arnold-Chiari malformation type II</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
+              <Synonym lang="en">Fy</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
+              </ExternalReference>
+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
+              </ExternalReference>
+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
+              </ExternalReference>
+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
+              </ExternalReference>
+              <ExternalReference id="54862">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16875">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="876">
+      <OrphaCode>397</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397</ExpertLink>
+      <Name lang="en">Giant cell arteritis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23946333[PMID]</SourceOfValidation>
+          <Gene id="21583">
+            <Name lang="en">protein tyrosine phosphatase non-receptor type 22</Name>
+            <Symbol>PTPN22</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Lyp</Synonym>
+              <Synonym lang="en">Lyp1</Synonym>
+              <Synonym lang="en">Lyp2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83548">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134242</Reference>
+              </ExternalReference>
+              <ExternalReference id="74769">
+                <Source>Genatlas</Source>
+                <Reference>PTPN22</Reference>
+              </ExternalReference>
+              <ExternalReference id="74767">
+                <Source>HGNC</Source>
+                <Reference>9652</Reference>
+              </ExternalReference>
+              <ExternalReference id="74768">
+                <Source>OMIM</Source>
+                <Reference>600716</Reference>
+              </ExternalReference>
+              <ExternalReference id="74770">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2R2</Reference>
+              </ExternalReference>
+              <ExternalReference id="190510">
+                <Source>IUPHAR</Source>
+                <Reference>3084</Reference>
+              </ExternalReference>
+              <ExternalReference id="126413">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2R2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26223536[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
+              </ExternalReference>
+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
+              </ExternalReference>
+              <ExternalReference id="30195">
+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
+              </ExternalReference>
+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
+              </ExternalReference>
+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58635">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33734973[PMID]</SourceOfValidation>
+          <Gene id="16200">
+            <Name lang="en">major histocompatibility complex, class I, B</Name>
+            <Symbol>HLA-B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234745</Reference>
+              </ExternalReference>
+              <ExternalReference id="30186">
+                <Source>Genatlas</Source>
+                <Reference>HLA-B</Reference>
+              </ExternalReference>
+              <ExternalReference id="30188">
+                <Source>HGNC</Source>
+                <Reference>4932</Reference>
+              </ExternalReference>
+              <ExternalReference id="30187">
+                <Source>OMIM</Source>
+                <Reference>142830</Reference>
+              </ExternalReference>
+              <ExternalReference id="135296">
+                <Source>SwissProt</Source>
+                <Reference>P01889</Reference>
+              </ExternalReference>
+              <ExternalReference id="135297">
+                <Source>Reactome</Source>
+                <Reference>P30486</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58523">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28041642[PMID]</SourceOfValidation>
+          <Gene id="29907">
+            <Name lang="en">prolyl 4-hydroxylase subunit alpha 2</Name>
+            <Symbol>P4HA2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">4-PH alpha 2</Synonym>
+              <Synonym lang="en">C-P4Halpha(II)</Synonym>
+              <Synonym lang="en">collagen prolyl 4-hydroxylase alpha(II)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="193444">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072682</Reference>
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+              <ExternalReference id="189486">
+                <Source>HGNC</Source>
+                <Reference>8547</Reference>
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+              <ExternalReference id="193445">
+                <Source>OMIM</Source>
+                <Reference>600608</Reference>
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+              <ExternalReference id="201565">
+                <Source>SwissProt</Source>
+                <Reference>O15460</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="82105">
+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="878">
+      <OrphaCode>2398</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2398</ExpertLink>
+      <Name lang="en">Multiple symmetric lipomatosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26085578[PMID]</SourceOfValidation>
+          <Gene id="16394">
+            <Name lang="en">mitofusin 2</Name>
+            <Symbol>MFN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2A2</Synonym>
+              <Synonym lang="en">CPRP1</Synonym>
+              <Synonym lang="en">KIAA0214</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116688</Reference>
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+              <ExternalReference id="31106">
+                <Source>Genatlas</Source>
+                <Reference>MFN2</Reference>
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+              <ExternalReference id="31104">
+                <Source>HGNC</Source>
+                <Reference>16877</Reference>
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+              <ExternalReference id="31103">
+                <Source>OMIM</Source>
+                <Reference>608507</Reference>
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+              <ExternalReference id="59548">
+                <Source>Reactome</Source>
+                <Reference>O95140</Reference>
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+              <ExternalReference id="33458">
+                <Source>SwissProt</Source>
+                <Reference>O95140</Reference>
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+              <ExternalReference id="190394">
+                <Source>IUPHAR</Source>
+                <Reference>3131</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Budd-Chiari syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <Gene id="16014">
+            <Name lang="en">coagulation factor V</Name>
+            <Symbol>F5</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198734</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>F5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3542</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2606</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612309</Reference>
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+              <ExternalReference id="57733">
+                <Source>Reactome</Source>
+                <Reference>P12259</Reference>
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+              <ExternalReference id="33028">
+                <Source>SwissProt</Source>
+                <Reference>P12259</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26557140[PMID]</SourceOfValidation>
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+            <Name lang="en">Janus kinase 2</Name>
+            <Symbol>JAK2</Symbol>
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+              <Synonym lang="en">JTK10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096968</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2048</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O60674</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60674</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28483676[PMID]</SourceOfValidation>
+          <Gene id="22642">
+            <Name lang="en">calreticulin</Name>
+            <Symbol>CALR</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CRT</Synonym>
+              <Synonym lang="en">FLJ26680</Synonym>
+              <Synonym lang="en">RO</Synonym>
+              <Synonym lang="en">SSA</Synonym>
+              <Synonym lang="en">Sicca syndrome antigen A (autoantigen Ro; calreticulin)</Synonym>
+              <Synonym lang="en">autoantigen Ro</Synonym>
+              <Synonym lang="en">cC1qR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179218</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1455</Reference>
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+              <ExternalReference id="85451">
+                <Source>OMIM</Source>
+                <Reference>109091</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27797</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Nephroblastoma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
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+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P51587</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BRCA2</Reference>
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+                <Reference>1101</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12085187[PMID]_25366870[PMID]</SourceOfValidation>
+          <Gene id="16160">
+            <Name lang="en">glypican 3</Name>
+            <Symbol>GPC3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DGSX</Synonym>
+              <Synonym lang="en">OCI-5</Synonym>
+              <Synonym lang="en">SGB</Synonym>
+              <Synonym lang="en">SGBS</Synonym>
+              <Synonym lang="en">SGBS1</Synonym>
+              <Synonym lang="en">glypican proteoglycan 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147257</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4451</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300037</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51654</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51654</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29912901[PMID]</SourceOfValidation>
+          <Gene id="27308">
+            <Name lang="en">tripartite motif containing 28</Name>
+            <Symbol>TRIM28</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KAP1</Synonym>
+              <Synonym lang="en">PPP1R157</Synonym>
+              <Synonym lang="en">RNF96</Synonym>
+              <Synonym lang="en">TF1B</Synonym>
+              <Synonym lang="en">TIF1B</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 157</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="159151">
+                <Source>HGNC</Source>
+                <Reference>16384</Reference>
+              </ExternalReference>
+              <ExternalReference id="159152">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130726</Reference>
+              </ExternalReference>
+              <ExternalReference id="159153">
+                <Source>SwissProt</Source>
+                <Reference>Q13263</Reference>
+              </ExternalReference>
+              <ExternalReference id="159154">
+                <Source>OMIM</Source>
+                <Reference>601742</Reference>
+              </ExternalReference>
+              <ExternalReference id="159155">
+                <Source>Genatlas</Source>
+                <Reference>TRIM28</Reference>
+              </ExternalReference>
+              <ExternalReference id="159156">
+                <Source>Reactome</Source>
+                <Reference>Q13263</Reference>
+              </ExternalReference>
+              <ExternalReference id="162722">
+                <Source>IUPHAR</Source>
+                <Reference>2253</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66865">
+                <GeneLocus>19q13.43</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29912901[PMID]</SourceOfValidation>
+          <Gene id="27308">
+            <Name lang="en">tripartite motif containing 28</Name>
+            <Symbol>TRIM28</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KAP1</Synonym>
+              <Synonym lang="en">PPP1R157</Synonym>
+              <Synonym lang="en">RNF96</Synonym>
+              <Synonym lang="en">TF1B</Synonym>
+              <Synonym lang="en">TIF1B</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 157</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="159151">
+                <Source>HGNC</Source>
+                <Reference>16384</Reference>
+              </ExternalReference>
+              <ExternalReference id="159152">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130726</Reference>
+              </ExternalReference>
+              <ExternalReference id="159153">
+                <Source>SwissProt</Source>
+                <Reference>Q13263</Reference>
+              </ExternalReference>
+              <ExternalReference id="159154">
+                <Source>OMIM</Source>
+                <Reference>601742</Reference>
+              </ExternalReference>
+              <ExternalReference id="159155">
+                <Source>Genatlas</Source>
+                <Reference>TRIM28</Reference>
+              </ExternalReference>
+              <ExternalReference id="159156">
+                <Source>Reactome</Source>
+                <Reference>Q13263</Reference>
+              </ExternalReference>
+              <ExternalReference id="162722">
+                <Source>IUPHAR</Source>
+                <Reference>2253</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66865">
+                <GeneLocus>19q13.43</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26551668[PMID]</SourceOfValidation>
+          <Gene id="23626">
+            <Name lang="en">RE1 silencing transcription factor</Name>
+            <Symbol>REST</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NRSF</Synonym>
+              <Synonym lang="en">XBR</Synonym>
+              <Synonym lang="en">neuron-restrictive silencer factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084093</Reference>
+              </ExternalReference>
+              <ExternalReference id="98690">
+                <Source>Genatlas</Source>
+                <Reference>REST</Reference>
+              </ExternalReference>
+              <ExternalReference id="98688">
+                <Source>HGNC</Source>
+                <Reference>9966</Reference>
+              </ExternalReference>
+              <ExternalReference id="98689">
+                <Source>OMIM</Source>
+                <Reference>600571</Reference>
+              </ExternalReference>
+              <ExternalReference id="98692">
+                <Source>Reactome</Source>
+                <Reference>Q13127</Reference>
+              </ExternalReference>
+              <ExternalReference id="98691">
+                <Source>SwissProt</Source>
+                <Reference>Q13127</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18407">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28553959[PMID]</SourceOfValidation>
+          <Gene id="25483">
+            <Name lang="en">thyroid hormone receptor interactor 13</Name>
+            <Symbol>TRIP13</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">16E1BP</Synonym>
+              <Synonym lang="en">thyroid receptor interacting protein 13</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144573">
+                <Source>HGNC</Source>
+                <Reference>12307</Reference>
+              </ExternalReference>
+              <ExternalReference id="144574">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000071539</Reference>
+              </ExternalReference>
+              <ExternalReference id="144575">
+                <Source>SwissProt</Source>
+                <Reference>Q15645</Reference>
+              </ExternalReference>
+              <ExternalReference id="144576">
+                <Source>OMIM</Source>
+                <Reference>604507</Reference>
+              </ExternalReference>
+              <ExternalReference id="144577">
+                <Source>Genatlas</Source>
+                <Reference>TRIP13</Reference>
+              </ExternalReference>
+              <ExternalReference id="144578">
+                <Source>Reactome</Source>
+                <Reference>Q15645</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40269">
+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15128">
+            <Name lang="en">POU class 6 homeobox 2</Name>
+            <Symbol>POU6F2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RPF-1</Synonym>
+              <Synonym lang="en">Retina-derived POU-domain factor-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143013">
+                <Source>Reactome</Source>
+                <Reference>P78424</Reference>
+              </ExternalReference>
+              <ExternalReference id="58382">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106536</Reference>
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+              <ExternalReference id="37318">
+                <Source>Genatlas</Source>
+                <Reference>POU6F2</Reference>
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+              <ExternalReference id="25045">
+                <Source>HGNC</Source>
+                <Reference>21694</Reference>
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+              <ExternalReference id="25044">
+                <Source>OMIM</Source>
+                <Reference>609062</Reference>
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+              <ExternalReference id="33239">
+                <Source>SwissProt</Source>
+                <Reference>P78424</Reference>
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+            </ExternalReferenceList>
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+                <GeneLocus>7p14.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15731">
+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
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+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
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+              <ExternalReference id="27922">
+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
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+              <ExternalReference id="27921">
+                <Source>OMIM</Source>
+                <Reference>607102</Reference>
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+              <ExternalReference id="32703">
+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
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+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
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+            </ExternalReferenceList>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15731">
+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
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+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
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+              <ExternalReference id="27922">
+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
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+              <ExternalReference id="27921">
+                <Source>OMIM</Source>
+                <Reference>607102</Reference>
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+              <ExternalReference id="32703">
+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
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+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
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+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
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+              <ExternalReference id="37118">
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+                <Reference>H19</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="20826">
+            <Name lang="en">DIS3 like 3'-5' exoribonuclease 2</Name>
+            <Symbol>DIS3L2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ36974</Synonym>
+              <Synonym lang="en">MGC42174</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83286">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144535</Reference>
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+              <ExternalReference id="61127">
+                <Source>Genatlas</Source>
+                <Reference>DIS3L2</Reference>
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+              <ExternalReference id="61126">
+                <Source>HGNC</Source>
+                <Reference>28648</Reference>
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+              <ExternalReference id="61128">
+                <Source>OMIM</Source>
+                <Reference>614184</Reference>
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+              <ExternalReference id="61129">
+                <Source>SwissProt</Source>
+                <Reference>Q8IYB7</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q37.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Myeloperoxidase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16461">
+            <Name lang="en">myeloperoxidase</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005381</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7218</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P05164</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P05164</Reference>
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+      <Name lang="en">Tuberculosis</Name>
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+            <Name lang="en">solute carrier family 11 member 1</Name>
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+                <Reference>ENSG00000018280</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10907</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P49279</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2897</ExpertLink>
+      <Name lang="en">Pityriasis rubra pilaris</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>CARD14</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Transient familial neonatal hyperbilirubinemia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">UDP glucuronosyltransferase family 1 member A1</Name>
+            <Symbol>UGT1A1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">SRY-box transcription factor 10</Name>
+            <Symbol>SOX10</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DOM</Synonym>
+              <Synonym lang="en">WS2E</Synonym>
+              <Synonym lang="en">WS4</Synonym>
+              <Synonym lang="en">dominant megacolon, mouse, human homolog of</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100146</Reference>
+              </ExternalReference>
+              <ExternalReference id="27008">
+                <Source>Genatlas</Source>
+                <Reference>SOX10</Reference>
+              </ExternalReference>
+              <ExternalReference id="27010">
+                <Source>HGNC</Source>
+                <Reference>11190</Reference>
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+              <ExternalReference id="27009">
+                <Source>OMIM</Source>
+                <Reference>602229</Reference>
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+              <ExternalReference id="32509">
+                <Source>SwissProt</Source>
+                <Reference>P56693</Reference>
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+              <ExternalReference id="143985">
+                <Source>Reactome</Source>
+                <Reference>P56693</Reference>
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+            <LocusList count="1">
+              <Locus id="39441">
+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19764030[PMID]</SourceOfValidation>
+          <Gene id="15911">
+            <Name lang="en">endothelin 3</Name>
+            <Symbol>EDN3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ET3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57507">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124205</Reference>
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+              <ExternalReference id="37000">
+                <Source>Genatlas</Source>
+                <Reference>EDN3</Reference>
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+              <ExternalReference id="28770">
+                <Source>HGNC</Source>
+                <Reference>3178</Reference>
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+              <ExternalReference id="28769">
+                <Source>OMIM</Source>
+                <Reference>131242</Reference>
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+              <ExternalReference id="57508">
+                <Source>Reactome</Source>
+                <Reference>P14138</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P14138</Reference>
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+              <Locus id="22285">
+                <GeneLocus>20q13.32</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15912">
+            <Name lang="en">endothelin receptor type B</Name>
+            <Symbol>EDNRB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ETB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P24530</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P24530</Reference>
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+              <ExternalReference id="57511">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136160</Reference>
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+              <ExternalReference id="28776">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>220</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30612693[PMID]</SourceOfValidation>
+          <Gene id="16402">
+            <Name lang="en">melanocyte inducing transcription factor</Name>
+            <Symbol>MITF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MI</Synonym>
+              <Synonym lang="en">bHLHe32</Synonym>
+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187098</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MITF</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O75030</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75030</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>808</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=808</ExpertLink>
+      <Name lang="en">Seckel syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+          <SourceOfValidation>34170319[PMID]</SourceOfValidation>
+          <Gene id="27665">
+            <Name lang="en">nucleoporin 85</Name>
+            <Symbol>NUP85</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ12549</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>170285</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125450</Reference>
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+              <ExternalReference id="161070">
+                <Source>SwissProt</Source>
+                <Reference>Q9BW27</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>12640452[PMID]</SourceOfValidation>
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+            <Name lang="en">ATR serine/threonine kinase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175054</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">LIP1</Synonym>
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+              <Synonym lang="en">Spindle assembly abnormal 4</Synonym>
+              <Synonym lang="en">centrosomal P4.1-associated protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">kendrin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>TRAIP</Reference>
+              </ExternalReference>
+              <ExternalReference id="98583">
+                <Source>HGNC</Source>
+                <Reference>30764</Reference>
+              </ExternalReference>
+              <ExternalReference id="98584">
+                <Source>OMIM</Source>
+                <Reference>605958</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25344692[PMID]_25320347[PMID]</SourceOfValidation>
+          <Gene id="23133">
+            <Name lang="en">polo like kinase 4</Name>
+            <Symbol>PLK4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Sak</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95250">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142731</Reference>
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+              <ExternalReference id="95248">
+                <Source>Genatlas</Source>
+                <Reference>PLK4</Reference>
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+              <ExternalReference id="95246">
+                <Source>HGNC</Source>
+                <Reference>11397</Reference>
+              </ExternalReference>
+              <ExternalReference id="95251">
+                <Source>IUPHAR</Source>
+                <Reference>2171</Reference>
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+              <ExternalReference id="95247">
+                <Source>OMIM</Source>
+                <Reference>605031</Reference>
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+              <ExternalReference id="97005">
+                <Source>Reactome</Source>
+                <Reference>O00444</Reference>
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+              <ExternalReference id="95249">
+                <Source>SwissProt</Source>
+                <Reference>O00444</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24748105[PMID]</SourceOfValidation>
+          <Gene id="23091">
+            <Name lang="en">centromere protein E</Name>
+            <Symbol>CENPE</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">PPP1R61</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 61</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138778</Reference>
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+              <ExternalReference id="95037">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1856</Reference>
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+              <ExternalReference id="95036">
+                <Source>OMIM</Source>
+                <Reference>117143</Reference>
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+              <ExternalReference id="97014">
+                <Source>Reactome</Source>
+                <Reference>Q02224</Reference>
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+              <ExternalReference id="95038">
+                <Source>SwissProt</Source>
+                <Reference>Q02224</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="946">
+      <OrphaCode>3027</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3027</ExpertLink>
+      <Name lang="en">Caudal regression syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]</SourceOfValidation>
+          <Gene id="16812">
+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173218</Reference>
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+              <ExternalReference id="35060">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
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+              <ExternalReference id="35061">
+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
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+              <ExternalReference id="35059">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
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+              <ExternalReference id="143855">
+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
+              <Synonym lang="en">Fy</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
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+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
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+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
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+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+              <ExternalReference id="54862">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+                <GeneLocus>19q13.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="937">
+      <OrphaCode>676</OrphaCode>
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+      <Name lang="en">Hereditary chronic pancreatitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="7">
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+          <SourceOfValidation>26166472[PMID]</SourceOfValidation>
+          <Gene id="15401">
+            <Name lang="en">calcium sensing receptor</Name>
+            <Symbol>CASR</Symbol>
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+              <Synonym lang="en">FHH</Synonym>
+              <Synonym lang="en">GPRC2A</Synonym>
+              <Synonym lang="en">NSHPT</Synonym>
+              <Synonym lang="en">severe neonatal hyperparathyroidism</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57351">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036828</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>601199</Reference>
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+              <ExternalReference id="57352">
+                <Source>Reactome</Source>
+                <Reference>P41180</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23864476[PMID]_22379635[PMID]</SourceOfValidation>
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+            <Name lang="en">serine protease 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">CF transmembrane conductance regulator</Name>
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+              <Synonym lang="en">ATP-binding cassette sub-family C, member 7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">serine peptidase inhibitor Kazal type 1</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">chymotrypsin C</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="936">
+      <OrphaCode>643</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=643</ExpertLink>
+      <Name lang="en">Giant axonal neuropathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301315[PMID]</SourceOfValidation>
+          <Gene id="16099">
+            <Name lang="en">gigaxonin</Name>
+            <Symbol>GAN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAN1</Synonym>
+              <Synonym lang="en">GIG</Synonym>
+              <Synonym lang="en">KLHL16</Synonym>
+              <Synonym lang="en">kelch-like family member 16</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57861">
+                <Source>Reactome</Source>
+                <Reference>Q9H2C0</Reference>
+              </ExternalReference>
+              <ExternalReference id="33114">
+                <Source>SwissProt</Source>
+                <Reference>Q9H2C0</Reference>
+              </ExternalReference>
+              <ExternalReference id="91546">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000261609</Reference>
+              </ExternalReference>
+              <ExternalReference id="29703">
+                <Source>Genatlas</Source>
+                <Reference>GAN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29701">
+                <Source>HGNC</Source>
+                <Reference>4137</Reference>
+              </ExternalReference>
+              <ExternalReference id="29700">
+                <Source>OMIM</Source>
+                <Reference>605379</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21913">
+                <GeneLocus>16q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="938">
+      <OrphaCode>634</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=634</ExpertLink>
+      <Name lang="en">Netherton syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10835624[PMID]</SourceOfValidation>
+          <Gene id="15550">
+            <Name lang="en">serine peptidase inhibitor Kazal type 5</Name>
+            <Symbol>SPINK5</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">DKFZp686K19184</Synonym>
+              <Synonym lang="en">FLJ21544</Synonym>
+              <Synonym lang="en">FLJ97536</Synonym>
+              <Synonym lang="en">FLJ97596</Synonym>
+              <Synonym lang="en">FLJ99794</Synonym>
+              <Synonym lang="en">LEKTI</Synonym>
+              <Synonym lang="en">LETKI</Synonym>
+              <Synonym lang="en">NETS</Synonym>
+              <Synonym lang="en">NS</Synonym>
+              <Synonym lang="en">VAKTI</Synonym>
+              <Synonym lang="en">lymphoepithelial Kazal-type-related inhibitor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126328">
+                <Source>Reactome</Source>
+                <Reference>Q9NQ38</Reference>
+              </ExternalReference>
+              <ExternalReference id="57868">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133710</Reference>
+              </ExternalReference>
+              <ExternalReference id="36582">
+                <Source>Genatlas</Source>
+                <Reference>SPINK5</Reference>
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+              <ExternalReference id="27068">
+                <Source>HGNC</Source>
+                <Reference>15464</Reference>
+              </ExternalReference>
+              <ExternalReference id="27067">
+                <Source>OMIM</Source>
+                <Reference>605010</Reference>
+              </ExternalReference>
+              <ExternalReference id="32521">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQ38</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26641">
+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="933">
+      <OrphaCode>140</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=140</ExpertLink>
+      <Name lang="en">Campomelic dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22051515[PMID]_20301724[PMID]</SourceOfValidation>
+          <Gene id="15541">
+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125398</Reference>
+              </ExternalReference>
+              <ExternalReference id="27026">
+                <Source>Genatlas</Source>
+                <Reference>SOX9</Reference>
+              </ExternalReference>
+              <ExternalReference id="27024">
+                <Source>HGNC</Source>
+                <Reference>11204</Reference>
+              </ExternalReference>
+              <ExternalReference id="27023">
+                <Source>OMIM</Source>
+                <Reference>608160</Reference>
+              </ExternalReference>
+              <ExternalReference id="97182">
+                <Source>Reactome</Source>
+                <Reference>P48436</Reference>
+              </ExternalReference>
+              <ExternalReference id="32512">
+                <Source>SwissProt</Source>
+                <Reference>P48436</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16611">
+                <GeneLocus>17q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="932">
+      <OrphaCode>2828</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2828</ExpertLink>
+      <Name lang="en">Young-onset Parkinson disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="11">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23804577[PMID]_23804563[PMID]</SourceOfValidation>
+          <Gene id="22665">
+            <Name lang="en">synaptojanin 1</Name>
+            <Symbol>SYNJ1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">INPP5G</Synonym>
+              <Synonym lang="en">PARK20</Synonym>
+              <Synonym lang="en">inositol polyphosphate-5-phosphatase G</Synonym>
+              <Synonym lang="en">phosphoinositide 5-phosphatase</Synonym>
+              <Synonym lang="en">synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190611">
+                <Source>IUPHAR</Source>
+                <Reference>1461</Reference>
+              </ExternalReference>
+              <ExternalReference id="88017">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159082</Reference>
+              </ExternalReference>
+              <ExternalReference id="87677">
+                <Source>Genatlas</Source>
+                <Reference>SYNJ1</Reference>
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+              <ExternalReference id="87675">
+                <Source>HGNC</Source>
+                <Reference>11503</Reference>
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+              <ExternalReference id="87676">
+                <Source>OMIM</Source>
+                <Reference>604297</Reference>
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+              <ExternalReference id="88016">
+                <Source>Reactome</Source>
+                <Reference>O43426</Reference>
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+              <ExternalReference id="87679">
+                <Source>SwissProt</Source>
+                <Reference>O43426</Reference>
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+            <LocusList count="1">
+              <Locus id="60631">
+                <GeneLocus>21q22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]</SourceOfValidation>
+          <Gene id="15532">
+            <Name lang="en">synuclein alpha</Name>
+            <Symbol>SNCA</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">&amp;#945;-synuclein</Synonym>
+              <Synonym lang="en">NACP</Synonym>
+              <Synonym lang="en">PD1</Synonym>
+              <Synonym lang="en">a-synuclein</Synonym>
+              <Synonym lang="en">alpha-synuclein</Synonym>
+              <Synonym lang="en">non A4 component of amyloid precursor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145335</Reference>
+              </ExternalReference>
+              <ExternalReference id="26980">
+                <Source>Genatlas</Source>
+                <Reference>SNCA</Reference>
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+              <ExternalReference id="26982">
+                <Source>HGNC</Source>
+                <Reference>11138</Reference>
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+              <ExternalReference id="26981">
+                <Source>OMIM</Source>
+                <Reference>163890</Reference>
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+              <ExternalReference id="57855">
+                <Source>Reactome</Source>
+                <Reference>P37840</Reference>
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+              <ExternalReference id="32503">
+                <Source>SwissProt</Source>
+                <Reference>P37840</Reference>
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+                <GeneLocus>4q22.1</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22166458[PMID]</SourceOfValidation>
+          <Gene id="15094">
+            <Name lang="en">PTEN induced kinase 1</Name>
+            <Symbol>PINK1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRPK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57850">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158828</Reference>
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+              <ExternalReference id="24879">
+                <Source>Genatlas</Source>
+                <Reference>PINK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14581</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2161</Reference>
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+              <ExternalReference id="24876">
+                <Source>OMIM</Source>
+                <Reference>608309</Reference>
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+              <ExternalReference id="97155">
+                <Source>Reactome</Source>
+                <Reference>Q9BXM7</Reference>
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+              <ExternalReference id="32785">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXM7</Reference>
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+              <Locus id="16557">
+                <GeneLocus>1p36.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15682">
+            <Name lang="en">ubiquitin C-terminal hydrolase L1</Name>
+            <Symbol>UCHL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PGP9.5</Synonym>
+              <Synonym lang="en">Uch-L1</Synonym>
+              <Synonym lang="en">ubiquitin thiolesterase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126334">
+                <Source>Reactome</Source>
+                <Reference>P09936</Reference>
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+              <ExternalReference id="57856">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154277</Reference>
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+              <ExternalReference id="27697">
+                <Source>Genatlas</Source>
+                <Reference>UCHL1</Reference>
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+              <ExternalReference id="27699">
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+                <Reference>12513</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2426</Reference>
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+                <Source>OMIM</Source>
+                <Reference>191342</Reference>
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+              <ExternalReference id="32654">
+                <Source>SwissProt</Source>
+                <Reference>P09936</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21701785[PMID]</SourceOfValidation>
+          <Gene id="16235">
+            <Name lang="en">HtrA serine peptidase 2</Name>
+            <Symbol>HTRA2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">OMI</Synonym>
+              <Synonym lang="en">PARK13</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142908">
+                <Source>Reactome</Source>
+                <Reference>O43464</Reference>
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+              <ExternalReference id="57844">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115317</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>14348</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606441</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43464</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26864383[PMID]</SourceOfValidation>
+          <Gene id="25063">
+            <Name lang="en">podocalyxin like</Name>
+            <Symbol>PODXL</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Gp200</Synonym>
+              <Synonym lang="en">PC</Synonym>
+              <Synonym lang="en">PCLP</Synonym>
+              <Synonym lang="en">PDX</Synonym>
+              <Synonym lang="en">PODXL1</Synonym>
+              <Synonym lang="en">gp135</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O00592</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O00592</Reference>
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+              <ExternalReference id="134692">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128567</Reference>
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+                <GeneLocus>7q32.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22166458[PMID]</SourceOfValidation>
+          <Gene id="16415">
+            <Name lang="en">leucine rich repeat kinase 2</Name>
+            <Symbol>LRRK2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DKFZp434H2111</Synonym>
+              <Synonym lang="en">FLJ45829</Synonym>
+              <Synonym lang="en">RIPK7</Synonym>
+              <Synonym lang="en">ROCO2</Synonym>
+              <Synonym lang="en">dardarin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100308">
+                <Source>Reactome</Source>
+                <Reference>Q5S007</Reference>
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+              <ExternalReference id="57845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188906</Reference>
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+              <ExternalReference id="31204">
+                <Source>Genatlas</Source>
+                <Reference>LRRK2</Reference>
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+              <ExternalReference id="31202">
+                <Source>HGNC</Source>
+                <Reference>18618</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2059</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609007</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5S007</Reference>
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+              <Locus id="19191">
+                <GeneLocus>12q12</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22166458[PMID]</SourceOfValidation>
+          <Gene id="16608">
+            <Name lang="en">parkin RBR E3 ubiquitin protein ligase</Name>
+            <Symbol>PRKN</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AR-JP</Synonym>
+              <Synonym lang="en">E3 ubiquitin ligase</Synonym>
+              <Synonym lang="en">PARK2</Synonym>
+              <Synonym lang="en">PDJ</Synonym>
+              <Synonym lang="en">parkin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185345</Reference>
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+              <ExternalReference id="32103">
+                <Source>Genatlas</Source>
+                <Reference>PARK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32101">
+                <Source>HGNC</Source>
+                <Reference>8607</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602544</Reference>
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+              <ExternalReference id="57853">
+                <Source>Reactome</Source>
+                <Reference>O60260</Reference>
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+              <ExternalReference id="33673">
+                <Source>SwissProt</Source>
+                <Reference>O60260</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6q26</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22166458[PMID]</SourceOfValidation>
+          <Gene id="16609">
+            <Name lang="en">Parkinsonism associated deglycase</Name>
+            <Symbol>PARK7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DJ-1</Synonym>
+              <Synonym lang="en">DJ1</Synonym>
+              <Synonym lang="en">GATD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57851">
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+                <Reference>ENSG00000116288</Reference>
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+              <ExternalReference id="32105">
+                <Source>Genatlas</Source>
+                <Reference>PARK7</Reference>
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+              <ExternalReference id="32107">
+                <Source>HGNC</Source>
+                <Reference>16369</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602533</Reference>
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+              <ExternalReference id="33674">
+                <Source>SwissProt</Source>
+                <Reference>Q99497</Reference>
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+              <ExternalReference id="143991">
+                <Source>Reactome</Source>
+                <Reference>Q99497</Reference>
+              </ExternalReference>
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+                <GeneLocus>1p36.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26942284[PMID]</SourceOfValidation>
+          <Gene id="23672">
+            <Name lang="en">vacuolar protein sorting 13 homolog C</Name>
+            <Symbol>VPS13C</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ10381</Synonym>
+              <Synonym lang="en">FLJ20136</Synonym>
+              <Synonym lang="en">KIAA1421</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129003</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VPS13C</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23594</Reference>
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+              <ExternalReference id="100252">
+                <Source>OMIM</Source>
+                <Reference>608879</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q709C8</Reference>
+              </ExternalReference>
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+                <GeneLocus>15q22.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26528954[PMID]</SourceOfValidation>
+          <Gene id="22171">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C6</Name>
+            <Symbol>DNAJC6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0473</Synonym>
+              <Synonym lang="en">PARK19</Synonym>
+              <Synonym lang="en">auxilin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83862">
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+                <Reference>ENSG00000116675</Reference>
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+              <ExternalReference id="82571">
+                <Source>Genatlas</Source>
+                <Reference>DNAJC6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15469</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608375</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75061</Reference>
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+              <ExternalReference id="79784">
+                <Source>SwissProt</Source>
+                <Reference>O75061</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+      <OrphaCode>642</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=642</ExpertLink>
+      <Name lang="en">Hereditary sensory and autonomic neuropathy type 4</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301726[PMID]</SourceOfValidation>
+          <Gene id="16581">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 1</Name>
+            <Symbol>NTRK1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MTC</Synonym>
+              <Synonym lang="en">TRK</Synonym>
+              <Synonym lang="en">TRKA</Synonym>
+              <Synonym lang="en">high affinity nerve growth factor receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198400</Reference>
+              </ExternalReference>
+              <ExternalReference id="31973">
+                <Source>Genatlas</Source>
+                <Reference>NTRK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31971">
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+                <Reference>8031</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1817</Reference>
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+                <Source>OMIM</Source>
+                <Reference>191315</Reference>
+              </ExternalReference>
+              <ExternalReference id="57859">
+                <Source>Reactome</Source>
+                <Reference>P04629</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>627</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=627</ExpertLink>
+      <Name lang="en">Nance-Horan syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20332100[PMID]</SourceOfValidation>
+          <Gene id="16546">
+            <Name lang="en">NHS actin remodeling regulator</Name>
+            <Symbol>NHS</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Reference>ENSG00000188158</Reference>
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+                <Reference>NHS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7820</Reference>
+              </ExternalReference>
+              <ExternalReference id="31804">
+                <Source>OMIM</Source>
+                <Reference>300457</Reference>
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+              <ExternalReference id="33611">
+                <Source>SwissProt</Source>
+                <Reference>Q6T4R5</Reference>
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+                <GeneLocus>Xp22.2-p22.13</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="930">
+      <OrphaCode>638</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=638</ExpertLink>
+      <Name lang="en">Neurofibromatosis-Noonan syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24311457[PMID]</SourceOfValidation>
+          <Gene id="16378">
+            <Name lang="en">mitogen-activated protein kinase kinase 2</Name>
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+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000126934</Reference>
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+                <Reference>6842</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22847776[PMID]</SourceOfValidation>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000196712</Reference>
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+                <Reference>NF1</Reference>
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+                <Reference>7765</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P21359</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=326</ExpertLink>
+      <Name lang="en">Congenital factor V deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation/>
+          <Gene id="16014">
+            <Name lang="en">coagulation factor V</Name>
+            <Symbol>F5</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198734</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2606</Reference>
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+                <Reference>612309</Reference>
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+                <Reference>P12259</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=526</ExpertLink>
+      <Name lang="en">Liddle syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15257">
+            <Name lang="en">sodium channel epithelial 1 subunit beta</Name>
+            <Symbol>SCNN1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ENaCbeta</Synonym>
+              <Synonym lang="en">Liddle syndrome</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit beta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>10600</Reference>
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+                <Reference>739</Reference>
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+                <Reference>600760</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51168</Reference>
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+            <Name lang="en">sodium channel epithelial 1 subunit gamma</Name>
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+              <Synonym lang="en">SCNEG</Synonym>
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+              <Locus id="24863">
+                <GeneLocus>16p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28710092[PMID]</SourceOfValidation>
+          <Gene id="15256">
+            <Name lang="en">sodium channel epithelial 1 subunit alpha</Name>
+            <Symbol>SCNN1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ENaCalpha</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="37338">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25646">
+                <Source>HGNC</Source>
+                <Reference>10599</Reference>
+              </ExternalReference>
+              <ExternalReference id="87961">
+                <Source>IUPHAR</Source>
+                <Reference>738</Reference>
+              </ExternalReference>
+              <ExternalReference id="25645">
+                <Source>OMIM</Source>
+                <Reference>600228</Reference>
+              </ExternalReference>
+              <ExternalReference id="82774">
+                <Source>Reactome</Source>
+                <Reference>P37088</Reference>
+              </ExternalReference>
+              <ExternalReference id="33814">
+                <Source>SwissProt</Source>
+                <Reference>P37088</Reference>
+              </ExternalReference>
+              <ExternalReference id="60246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111319</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7073">
+                <GeneLocus>12p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="923">
+      <OrphaCode>215</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=215</ExpertLink>
+      <Name lang="en">Congenital stationary night blindness</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="15">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9888392[PMID]</SourceOfValidation>
+          <Gene id="15211">
+            <Name lang="en">rhodopsin</Name>
+            <Symbol>RHO</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CSNBAD1</Synonym>
+              <Synonym lang="en">OPN2</Synonym>
+              <Synonym lang="en">opsin 2, rod pigment</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57575">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163914</Reference>
+              </ExternalReference>
+              <ExternalReference id="25435">
+                <Source>Genatlas</Source>
+                <Reference>RHO</Reference>
+              </ExternalReference>
+              <ExternalReference id="25433">
+                <Source>HGNC</Source>
+                <Reference>10012</Reference>
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+              <ExternalReference id="25432">
+                <Source>OMIM</Source>
+                <Reference>180380</Reference>
+              </ExternalReference>
+              <ExternalReference id="57576">
+                <Source>Reactome</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="33769">
+                <Source>SwissProt</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="193555">
+                <Source>IUPHAR</Source>
+                <Reference>2963</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>3q22.1</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19578023[PMID]</SourceOfValidation>
+          <Gene id="15240">
+            <Name lang="en">S-antigen visual arrestin</Name>
+            <Symbol>SAG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARRESTIN</Synonym>
+              <Synonym lang="en">RP47</Synonym>
+              <Synonym lang="en">arrestin 1</Synonym>
+              <Synonym lang="en">rod arrestin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57577">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130561</Reference>
+              </ExternalReference>
+              <ExternalReference id="25569">
+                <Source>Genatlas</Source>
+                <Reference>SAG</Reference>
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+              <ExternalReference id="25571">
+                <Source>HGNC</Source>
+                <Reference>10521</Reference>
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+              <ExternalReference id="25570">
+                <Source>OMIM</Source>
+                <Reference>181031</Reference>
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+              <ExternalReference id="82768">
+                <Source>Reactome</Source>
+                <Reference>P10523</Reference>
+              </ExternalReference>
+              <ExternalReference id="33798">
+                <Source>SwissProt</Source>
+                <Reference>P10523</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q37.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16960802[PMID]</SourceOfValidation>
+          <Gene id="15390">
+            <Name lang="en">calcium binding protein 4</Name>
+            <Symbol>CABP4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CSNB2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57823">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175544</Reference>
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+              <ExternalReference id="26293">
+                <Source>Genatlas</Source>
+                <Reference>CABP4</Reference>
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+              <ExternalReference id="26291">
+                <Source>HGNC</Source>
+                <Reference>1386</Reference>
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+              <ExternalReference id="26290">
+                <Source>OMIM</Source>
+                <Reference>608965</Reference>
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+              <ExternalReference id="33947">
+                <Source>SwissProt</Source>
+                <Reference>P57796</Reference>
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+              <Locus id="7325">
+                <GeneLocus>11q13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301423[PMID]</SourceOfValidation>
+          <Gene id="15393">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 F</Name>
+            <Symbol>CACNA1F</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CORDX3</Synonym>
+              <Synonym lang="en">CSNB2A</Synonym>
+              <Synonym lang="en">CSNBX2</Synonym>
+              <Synonym lang="en">Cav1.4</Synonym>
+              <Synonym lang="en">JM8</Synonym>
+              <Synonym lang="en">JMC8</Synonym>
+              <Synonym lang="en">OA2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="26305">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1F</Reference>
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+              <ExternalReference id="26307">
+                <Source>HGNC</Source>
+                <Reference>1393</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>531</Reference>
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+              <ExternalReference id="26306">
+                <Source>OMIM</Source>
+                <Reference>300110</Reference>
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+              <ExternalReference id="98050">
+                <Source>Reactome</Source>
+                <Reference>O60840</Reference>
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+              <ExternalReference id="32361">
+                <Source>SwissProt</Source>
+                <Reference>O60840</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102001</Reference>
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+                <GeneLocus>Xp11.23</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8673138[PMID]_22190596[PMID]</SourceOfValidation>
+          <Gene id="16148">
+            <Name lang="en">G protein subunit alpha transducin 1</Name>
+            <Symbol>GNAT1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CSNBAD3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57830">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114349</Reference>
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+              <ExternalReference id="29940">
+                <Source>Genatlas</Source>
+                <Reference>GNAT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4393</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139330</Reference>
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+              <ExternalReference id="57831">
+                <Source>Reactome</Source>
+                <Reference>P11488</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11488</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17405131[PMID]</SourceOfValidation>
+          <Gene id="16169">
+            <Name lang="en">glutamate metabotropic receptor 6</Name>
+            <Symbol>GRM6</Symbol>
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+              <Synonym lang="en">CSNB1B</Synonym>
+              <Synonym lang="en">GPRC1F</Synonym>
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+              <Synonym lang="en">mGlu6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57828">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113262</Reference>
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+              <ExternalReference id="30043">
+                <Source>Genatlas</Source>
+                <Reference>GRM6</Reference>
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+                <Reference>294</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57829">
+                <Source>Reactome</Source>
+                <Reference>O15303</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>20301423[PMID]</SourceOfValidation>
+          <Gene id="16582">
+            <Name lang="en">nyctalopin</Name>
+            <Symbol>NYX</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="31976">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9GZU5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188937</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">phosphodiesterase 6B</Name>
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+              <Synonym lang="en">congenital stationary night blindness 3, autosomal dominant</Synonym>
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+              <Synonym lang="en">rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133256</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">calcium voltage-gated channel auxiliary subunit alpha2delta 4</Name>
+            <Symbol>CACNA2D4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>20202</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19896109[PMID]_19896113[PMID]</SourceOfValidation>
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+            <Name lang="en">transient receptor potential cation channel subfamily M member 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134160</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>493</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83166">
+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20850105[PMID]</SourceOfValidation>
+          <Gene id="19484">
+            <Name lang="en">solute carrier family 24 member 1</Name>
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+              <Synonym lang="en">HsT17412</Synonym>
+              <Synonym lang="en">KIAA0702</Synonym>
+              <Synonym lang="en">NCKX</Synonym>
+              <Synonym lang="en">NCKX1</Synonym>
+              <Synonym lang="en">RODX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57833">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074621</Reference>
+              </ExternalReference>
+              <ExternalReference id="49317">
+                <Source>Genatlas</Source>
+                <Reference>SLC24A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="49318">
+                <Source>HGNC</Source>
+                <Reference>10975</Reference>
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+              <ExternalReference id="49319">
+                <Source>OMIM</Source>
+                <Reference>603617</Reference>
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+              <ExternalReference id="57834">
+                <Source>Reactome</Source>
+                <Reference>O60721</Reference>
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+              <ExternalReference id="49320">
+                <Source>SwissProt</Source>
+                <Reference>O60721</Reference>
+              </ExternalReference>
+              <ExternalReference id="190435">
+                <Source>IUPHAR</Source>
+                <Reference>1045</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60279">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22325361[PMID]_22325362[PMID]</SourceOfValidation>
+          <Gene id="20814">
+            <Name lang="en">G protein-coupled receptor 179</Name>
+            <Symbol>GPR179</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CSNB1E</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95180">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277399</Reference>
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+              <ExternalReference id="61042">
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+                <Reference>GPR179</Reference>
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+                <Source>HGNC</Source>
+                <Reference>31371</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>211</Reference>
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+                <Reference>614515</Reference>
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+              <ExternalReference id="61043">
+                <Source>SwissProt</Source>
+                <Reference>Q6PRD1</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23246293[PMID]</SourceOfValidation>
+          <Gene id="21744">
+            <Name lang="en">leucine rich repeat, Ig-like and transmembrane domains 3</Name>
+            <Symbol>LRIT3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">'fibronectin type III, immunoglobulin and leucine rich repeat domains 4'</Synonym>
+              <Synonym lang="en">CSNB1F</Synonym>
+              <Synonym lang="en">FIGLER4</Synonym>
+              <Synonym lang="en">FLJ44691</Synonym>
+              <Synonym lang="en">Fibronectin type III, immunoglobulin and leucine rich repeat domains 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183423</Reference>
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+              <ExternalReference id="84661">
+                <Source>Genatlas</Source>
+                <Reference>LRIT3</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>615004</Reference>
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+              <ExternalReference id="76257">
+                <Source>SwissProt</Source>
+                <Reference>Q3SXY7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4q25</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16168">
+            <Name lang="en">G protein-coupled receptor kinase 1</Name>
+            <Symbol>GRK1</Symbol>
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+              <Synonym lang="en">GPRK1</Synonym>
+              <Synonym lang="en">RK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>GRK1</Reference>
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+              <ExternalReference id="30037">
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+                <Source>IUPHAR</Source>
+                <Reference>1465</Reference>
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+                <Source>OMIM</Source>
+                <Reference>180381</Reference>
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+              <ExternalReference id="82940">
+                <Source>Reactome</Source>
+                <Reference>Q15835</Reference>
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+              <ExternalReference id="33187">
+                <Source>SwissProt</Source>
+                <Reference>Q15835</Reference>
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+              <ExternalReference id="59260">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185974</Reference>
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+                <GeneLocus>13q34</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27063057[PMID]</SourceOfValidation>
+          <Gene id="25858">
+            <Name lang="en">G protein subunit beta 3</Name>
+            <Symbol>GNB3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3</Synonym>
+              <Synonym lang="en">transducin beta chain 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="147735">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111664</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16520</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139130</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GNB3</Reference>
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+              <ExternalReference id="147739">
+                <Source>Reactome</Source>
+                <Reference>P16520</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Familial Mediterranean fever</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="16389">
+            <Name lang="en">MEFV innate immuity regulator, pyrin</Name>
+            <Symbol>MEFV</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FMF</Synonym>
+              <Synonym lang="en">TRIM20</Synonym>
+              <Synonym lang="en">marenostrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>O15553</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15553</Reference>
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+      <Name lang="en">Choroideremia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">CHM Rab escort protein</Name>
+            <Symbol>CHM</Symbol>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188419</Reference>
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+                <Reference>P15538</Reference>
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+              <ExternalReference id="57812">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160882</Reference>
+              </ExternalReference>
+              <ExternalReference id="28412">
+                <Source>Genatlas</Source>
+                <Reference>CYP11B1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28410">
+                <Source>HGNC</Source>
+                <Reference>2591</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21879">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24817817[PMID]_20634641[PMID]</SourceOfValidation>
+          <Gene id="15835">
+            <Name lang="en">cytochrome P450 family 11 subfamily B member 2</Name>
+            <Symbol>CYP11B2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ALDOS</Synonym>
+              <Synonym lang="en">CPN2</Synonym>
+              <Synonym lang="en">CYP11BL</Synonym>
+              <Synonym lang="en">P-450C18</Synonym>
+              <Synonym lang="en">P450aldo</Synonym>
+              <Synonym lang="en">steroid 11-beta-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193637">
+                <Source>IUPHAR</Source>
+                <Reference>1360</Reference>
+              </ExternalReference>
+              <ExternalReference id="57814">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179142</Reference>
+              </ExternalReference>
+              <ExternalReference id="28414">
+                <Source>Genatlas</Source>
+                <Reference>CYP11B2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28416">
+                <Source>HGNC</Source>
+                <Reference>2592</Reference>
+              </ExternalReference>
+              <ExternalReference id="28415">
+                <Source>OMIM</Source>
+                <Reference>124080</Reference>
+              </ExternalReference>
+              <ExternalReference id="57815">
+                <Source>Reactome</Source>
+                <Reference>P19099</Reference>
+              </ExternalReference>
+              <ExternalReference id="32846">
+                <Source>SwissProt</Source>
+                <Reference>P19099</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66683">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="905">
+      <OrphaCode>146</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=146</ExpertLink>
+      <Name lang="en">Differentiated thyroid carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="29">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25417114[PMID]</SourceOfValidation>
+          <Gene id="23130">
+            <Name lang="en">eukaryotic translation initiation factor 1A X-linked</Name>
+            <Symbol>EIF1AX</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">eIF-1A</Synonym>
+              <Synonym lang="en">eIF-4C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95214">
+                <Source>SwissProt</Source>
+                <Reference>P47813</Reference>
+              </ExternalReference>
+              <ExternalReference id="95215">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173674</Reference>
+              </ExternalReference>
+              <ExternalReference id="95213">
+                <Source>Genatlas</Source>
+                <Reference>EIF1AX</Reference>
+              </ExternalReference>
+              <ExternalReference id="95211">
+                <Source>HGNC</Source>
+                <Reference>3250</Reference>
+              </ExternalReference>
+              <ExternalReference id="95212">
+                <Source>OMIM</Source>
+                <Reference>300186</Reference>
+              </ExternalReference>
+              <ExternalReference id="97006">
+                <Source>Reactome</Source>
+                <Reference>P47813</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25747">
+                <GeneLocus>Xp22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10958784[PMID]_25069464[PMID]_25708358[PMID]_17891228[PMID]</SourceOfValidation>
+          <Gene id="15129">
+            <Name lang="en">peroxisome proliferator activated receptor gamma</Name>
+            <Symbol>PPARG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NR1C3</Synonym>
+              <Synonym lang="en">PPARG1</Synonym>
+              <Synonym lang="en">PPARG2</Synonym>
+              <Synonym lang="en">PPARgamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132170</Reference>
+              </ExternalReference>
+              <ExternalReference id="25051">
+                <Source>Genatlas</Source>
+                <Reference>PPARG</Reference>
+              </ExternalReference>
+              <ExternalReference id="25049">
+                <Source>HGNC</Source>
+                <Reference>9236</Reference>
+              </ExternalReference>
+              <ExternalReference id="82744">
+                <Source>IUPHAR</Source>
+                <Reference>595</Reference>
+              </ExternalReference>
+              <ExternalReference id="25048">
+                <Source>OMIM</Source>
+                <Reference>601487</Reference>
+              </ExternalReference>
+              <ExternalReference id="58728">
+                <Source>Reactome</Source>
+                <Reference>P37231</Reference>
+              </ExternalReference>
+              <ExternalReference id="33240">
+                <Source>SwissProt</Source>
+                <Reference>P37231</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21597">
+                <GeneLocus>3p25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25407564[PMID]_17891228[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
+              </ExternalReference>
+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
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+              <ExternalReference id="25386">
+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
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+              <ExternalReference id="82759">
+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
+              </ExternalReference>
+              <ExternalReference id="25385">
+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
+              </ExternalReference>
+              <ExternalReference id="33724">
+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24113">
+                <GeneLocus>10q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12670889[PMID]_17891228[PMID]_25702102[PMID]_25489262[PMID]_25468810[PMID]_25069464[PMID]</SourceOfValidation>
+          <Gene id="15376">
+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>BRAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRAF1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56979">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157764</Reference>
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+              <ExternalReference id="26223">
+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
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+              <ExternalReference id="26221">
+                <Source>HGNC</Source>
+                <Reference>1097</Reference>
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+              <ExternalReference id="82791">
+                <Source>IUPHAR</Source>
+                <Reference>1943</Reference>
+              </ExternalReference>
+              <ExternalReference id="26220">
+                <Source>OMIM</Source>
+                <Reference>164757</Reference>
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+              <ExternalReference id="56980">
+                <Source>Reactome</Source>
+                <Reference>P15056</Reference>
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+              <ExternalReference id="33933">
+                <Source>SwissProt</Source>
+                <Reference>P15056</Reference>
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+            <LocusList count="1">
+              <Locus id="7299">
+                <GeneLocus>7q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25407564[PMID]</SourceOfValidation>
+          <Gene id="15406">
+            <Name lang="en">coiled-coil domain containing 6</Name>
+            <Symbol>CCDC6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">TPC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57790">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108091</Reference>
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+              <ExternalReference id="37354">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="26368">
+                <Source>HGNC</Source>
+                <Reference>18782</Reference>
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+              <ExternalReference id="26367">
+                <Source>OMIM</Source>
+                <Reference>601985</Reference>
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+              <ExternalReference id="32374">
+                <Source>SwissProt</Source>
+                <Reference>Q16204</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9172002[PMID]_9169129[PMID]</SourceOfValidation>
+          <Gene id="15604">
+            <Name lang="en">trafficking from ER to golgi regulator</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">FLJ36137</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57798">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114354</Reference>
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+              <ExternalReference id="37376">
+                <Source>Genatlas</Source>
+                <Reference>TFG</Reference>
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+              <ExternalReference id="27325">
+                <Source>HGNC</Source>
+                <Reference>11758</Reference>
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+              <ExternalReference id="27324">
+                <Source>OMIM</Source>
+                <Reference>602498</Reference>
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+              <ExternalReference id="97186">
+                <Source>Reactome</Source>
+                <Reference>Q92734</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9172002[PMID]_1532241[PMID]</SourceOfValidation>
+          <Gene id="15653">
+            <Name lang="en">translocated promoter region, nuclear basket protein</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57799">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000047410</Reference>
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+              <ExternalReference id="37384">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>12017</Reference>
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+                <Source>OMIM</Source>
+                <Reference>189940</Reference>
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+              <ExternalReference id="57800">
+                <Source>Reactome</Source>
+                <Reference>P12270</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P12270</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10439047[PMID]_17062879[PMID]</SourceOfValidation>
+          <Gene id="15659">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>2252</Reference>
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+              <ExternalReference id="27586">
+                <Source>OMIM</Source>
+                <Reference>603406</Reference>
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+              <ExternalReference id="82840">
+                <Source>Reactome</Source>
+                <Reference>O15164</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15164</Reference>
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+              <ExternalReference id="57801">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122779</Reference>
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+              <ExternalReference id="36452">
+                <Source>Genatlas</Source>
+                <Reference>TRIM24</Reference>
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+              <ExternalReference id="27587">
+                <Source>HGNC</Source>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12787916[PMID]_17062879[PMID]</SourceOfValidation>
+          <Gene id="15660">
+            <Name lang="en">tripartite motif containing 27</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143343">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57802">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204713</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9975</Reference>
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+              <ExternalReference id="27590">
+                <Source>OMIM</Source>
+                <Reference>602165</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P14373</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10439047[PMID]_17062879[PMID]</SourceOfValidation>
+          <Gene id="15662">
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+              <Synonym lang="en">transcriptional intermediary factor 1 gamma</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197323</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2254</Reference>
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+              <ExternalReference id="27599">
+                <Source>OMIM</Source>
+                <Reference>605769</Reference>
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+              <ExternalReference id="82842">
+                <Source>Reactome</Source>
+                <Reference>Q9UPN9</Reference>
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+              <ExternalReference id="32634">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPN9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23255">
+                <GeneLocus>1p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10337992[PMID]</SourceOfValidation>
+          <Gene id="15988">
+            <Name lang="en">ELKS/RAB6-interacting/CAST family member 1</Name>
+            <Symbol>ERC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CAST2</Synonym>
+              <Synonym lang="en">ELKS</Synonym>
+              <Synonym lang="en">KIAA1081</Synonym>
+              <Synonym lang="en">MGC12974</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57791">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082805</Reference>
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+              <ExternalReference id="37448">
+                <Source>Genatlas</Source>
+                <Reference>ERC1</Reference>
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+              <ExternalReference id="29133">
+                <Source>HGNC</Source>
+                <Reference>17072</Reference>
+              </ExternalReference>
+              <ExternalReference id="29132">
+                <Source>OMIM</Source>
+                <Reference>607127</Reference>
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+              <ExternalReference id="33000">
+                <Source>SwissProt</Source>
+                <Reference>Q8IUD2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>12p13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21730105[PMID]</SourceOfValidation>
+          <Gene id="16066">
+            <Name lang="en">forkhead box E1</Name>
+            <Symbol>FOXE1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFKH4</Synonym>
+              <Synonym lang="en">TTF-2</Synonym>
+              <Synonym lang="en">thyroid transcription factor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178919</Reference>
+              </ExternalReference>
+              <ExternalReference id="29543">
+                <Source>Genatlas</Source>
+                <Reference>FOXE1</Reference>
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+              <ExternalReference id="29545">
+                <Source>HGNC</Source>
+                <Reference>3806</Reference>
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+              <ExternalReference id="29544">
+                <Source>OMIM</Source>
+                <Reference>602617</Reference>
+              </ExternalReference>
+              <ExternalReference id="33081">
+                <Source>SwissProt</Source>
+                <Reference>O00358</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9443391[PMID]_17062879[PMID]</SourceOfValidation>
+          <Gene id="16156">
+            <Name lang="en">golgin A5</Name>
+            <Symbol>GOLGA5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GOLIM5</Synonym>
+              <Synonym lang="en">golgi integral membrane protein 5</Synonym>
+              <Synonym lang="en">golgin-84</Synonym>
+              <Synonym lang="en">ret-II</Synonym>
+              <Synonym lang="en">rfg5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100299">
+                <Source>Reactome</Source>
+                <Reference>Q8TBA6</Reference>
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+              <ExternalReference id="57793">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066455</Reference>
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+              <ExternalReference id="37472">
+                <Source>Genatlas</Source>
+                <Reference>GOLGA5</Reference>
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+              <ExternalReference id="29980">
+                <Source>HGNC</Source>
+                <Reference>4428</Reference>
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+              <ExternalReference id="29979">
+                <Source>OMIM</Source>
+                <Reference>606918</Reference>
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+              <ExternalReference id="33175">
+                <Source>SwissProt</Source>
+                <Reference>Q8TBA6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>14q32.12</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25132659[PMID]_25648502[PMID]_25109485[PMID]_17891228[PMID]</SourceOfValidation>
+          <Gene id="16221">
+            <Name lang="en">HRas proto-oncogene, GTPase</Name>
+            <Symbol>HRAS</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="30290">
+                <Source>HGNC</Source>
+                <Reference>5173</Reference>
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+              <ExternalReference id="30289">
+                <Source>OMIM</Source>
+                <Reference>190020</Reference>
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+              <ExternalReference id="57392">
+                <Source>Reactome</Source>
+                <Reference>P01112</Reference>
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+              <ExternalReference id="33285">
+                <Source>SwissProt</Source>
+                <Reference>P01112</Reference>
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+              <ExternalReference id="57391">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174775</Reference>
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+              <ExternalReference id="30288">
+                <Source>Genatlas</Source>
+                <Reference>HRAS</Reference>
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+              <ExternalReference id="193594">
+                <Source>IUPHAR</Source>
+                <Reference>2822</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23625203[PMID]_25132659[PMID]_25648502[PMID]_25109485[PMID]</SourceOfValidation>
+          <Gene id="16312">
+            <Name lang="en">KRAS proto-oncogene, GTPase</Name>
+            <Symbol>KRAS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K-Ras4B</Synonym>
+              <Synonym lang="en">KRAS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193582">
+                <Source>IUPHAR</Source>
+                <Reference>2824</Reference>
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+              <ExternalReference id="56977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133703</Reference>
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+              <ExternalReference id="30720">
+                <Source>Genatlas</Source>
+                <Reference>KRAS</Reference>
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+              <ExternalReference id="30718">
+                <Source>HGNC</Source>
+                <Reference>6407</Reference>
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+              <ExternalReference id="30717">
+                <Source>OMIM</Source>
+                <Reference>190070</Reference>
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+              <ExternalReference id="56978">
+                <Source>Reactome</Source>
+                <Reference>P01116</Reference>
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+              <ExternalReference id="33377">
+                <Source>SwissProt</Source>
+                <Reference>P01116</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>12p12.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9172002[PMID]_9169129[PMID]_19883730[PMID]</SourceOfValidation>
+          <Gene id="16581">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 1</Name>
+            <Symbol>NTRK1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MTC</Synonym>
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+              <Synonym lang="en">TRKA</Synonym>
+              <Synonym lang="en">high affinity nerve growth factor receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198400</Reference>
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+              <ExternalReference id="31973">
+                <Source>Genatlas</Source>
+                <Reference>NTRK1</Reference>
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+              <ExternalReference id="31971">
+                <Source>HGNC</Source>
+                <Reference>8031</Reference>
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+              <ExternalReference id="83016">
+                <Source>IUPHAR</Source>
+                <Reference>1817</Reference>
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+              <ExternalReference id="31970">
+                <Source>OMIM</Source>
+                <Reference>191315</Reference>
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+              <ExternalReference id="57859">
+                <Source>Reactome</Source>
+                <Reference>P04629</Reference>
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+              <ExternalReference id="33646">
+                <Source>SwissProt</Source>
+                <Reference>P04629</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q06710</Reference>
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+              <ExternalReference id="59763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125618</Reference>
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+              <ExternalReference id="32132">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8622</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="33679">
+                <Source>SwissProt</Source>
+                <Reference>Q06710</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">TEL</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213281</Reference>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24327398[PMID]</SourceOfValidation>
+          <Gene id="19504">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 3</Name>
+            <Symbol>NTRK3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRKC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58713">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140538</Reference>
+              </ExternalReference>
+              <ExternalReference id="49891">
+                <Source>Genatlas</Source>
+                <Reference>NTRK3</Reference>
+              </ExternalReference>
+              <ExternalReference id="49892">
+                <Source>HGNC</Source>
+                <Reference>8033</Reference>
+              </ExternalReference>
+              <ExternalReference id="83188">
+                <Source>IUPHAR</Source>
+                <Reference>1819</Reference>
+              </ExternalReference>
+              <ExternalReference id="49894">
+                <Source>OMIM</Source>
+                <Reference>191316</Reference>
+              </ExternalReference>
+              <ExternalReference id="49893">
+                <Source>SwissProt</Source>
+                <Reference>Q16288</Reference>
+              </ExternalReference>
+              <ExternalReference id="143959">
+                <Source>Reactome</Source>
+                <Reference>Q16288</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39387">
+                <GeneLocus>15q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8290261[PMID]_25407564[PMID]</SourceOfValidation>
+          <Gene id="21441">
+            <Name lang="en">nuclear receptor coactivator 4</Name>
+            <Symbol>NCOA4</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ARA70</Synonym>
+              <Synonym lang="en">DKFZp762E1112</Synonym>
+              <Synonym lang="en">ELE1</Synonym>
+              <Synonym lang="en">PTC3</Synonym>
+              <Synonym lang="en">RET-activating gene ELE1</Synonym>
+              <Synonym lang="en">RFG</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95182">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000266412</Reference>
+              </ExternalReference>
+              <ExternalReference id="72401">
+                <Source>Genatlas</Source>
+                <Reference>NCOA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="72357">
+                <Source>HGNC</Source>
+                <Reference>7671</Reference>
+              </ExternalReference>
+              <ExternalReference id="72358">
+                <Source>OMIM</Source>
+                <Reference>601984</Reference>
+              </ExternalReference>
+              <ExternalReference id="72360">
+                <Source>SwissProt</Source>
+                <Reference>Q13772</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20533">
+                <GeneLocus>10q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23894154[PMID]</SourceOfValidation>
+          <Gene id="21868">
+            <Name lang="en">disrupted in renal carcinoma 3</Name>
+            <Symbol>DIRC3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ14199</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83666">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231672</Reference>
+              </ExternalReference>
+              <ExternalReference id="77100">
+                <Source>Genatlas</Source>
+                <Reference>DIRC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="77098">
+                <Source>HGNC</Source>
+                <Reference>17805</Reference>
+              </ExternalReference>
+              <ExternalReference id="77099">
+                <Source>OMIM</Source>
+                <Reference>608262</Reference>
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+              <ExternalReference id="77101">
+                <Source>SwissProt</Source>
+                <Reference>C9JPN6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12377">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15841082[PMID]</SourceOfValidation>
+          <Gene id="22591">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A13</Name>
+            <Symbol>NDUFA13</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">B16.6</Synonym>
+              <Synonym lang="en">CDA016</Synonym>
+              <Synonym lang="en">CGI-39</Synonym>
+              <Synonym lang="en">GRIM-19</Synonym>
+              <Synonym lang="en">GRIM19</Synonym>
+              <Synonym lang="en">complex I B16.6 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="85381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186010</Reference>
+              </ExternalReference>
+              <ExternalReference id="84713">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA13</Reference>
+              </ExternalReference>
+              <ExternalReference id="84711">
+                <Source>HGNC</Source>
+                <Reference>17194</Reference>
+              </ExternalReference>
+              <ExternalReference id="84712">
+                <Source>OMIM</Source>
+                <Reference>609435</Reference>
+              </ExternalReference>
+              <ExternalReference id="85380">
+                <Source>Reactome</Source>
+                <Reference>Q9P0J0</Reference>
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+              <ExternalReference id="84714">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0J0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>19p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27875244[PMID]_27581851[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57327">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
+              </ExternalReference>
+              <ExternalReference id="34945">
+                <Source>Genatlas</Source>
+                <Reference>TERT</Reference>
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+              <ExternalReference id="34943">
+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
+              </ExternalReference>
+              <ExternalReference id="34944">
+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
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+              <ExternalReference id="57328">
+                <Source>Reactome</Source>
+                <Reference>O14746</Reference>
+              </ExternalReference>
+              <ExternalReference id="35095">
+                <Source>SwissProt</Source>
+                <Reference>O14746</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26941397[PMID]</SourceOfValidation>
+          <Gene id="23996">
+            <Name lang="en">GAS8 antisense RNA 1</Name>
+            <Symbol>GAS8-AS1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="124970">
+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>605179</Reference>
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+              <ExternalReference id="124972">
+                <Source>SwissProt</Source>
+                <Reference>O95177</Reference>
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+              <ExternalReference id="124973">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000221819</Reference>
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+              <ExternalReference id="126195">
+                <Source>Genatlas</Source>
+                <Reference>C16orf3</Reference>
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+                <GeneLocus>16q24.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26941397[PMID]</SourceOfValidation>
+          <Gene id="23997">
+            <Name lang="en">lysophosphatidic acid receptor 4</Name>
+            <Symbol>LPAR4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LPA4</Synonym>
+              <Synonym lang="en">P2RY9</Synonym>
+              <Synonym lang="en">P2Y5-LIKE</Synonym>
+              <Synonym lang="en">P2Y9</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>94</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300086</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GPR23</Reference>
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+              <ExternalReference id="124978">
+                <Source>SwissProt</Source>
+                <Reference>Q99677</Reference>
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+              <ExternalReference id="124979">
+                <Source>Reactome</Source>
+                <Reference>Q99677</Reference>
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+              <ExternalReference id="124980">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147145</Reference>
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+                <GeneLocus>Xq21.1</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1331</ExpertLink>
+      <Name lang="en">Familial prostate cancer</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="15">
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+          <Gene id="15419">
+            <Name lang="en">cadherin 1</Name>
+            <Symbol>CDH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD324</Synonym>
+              <Synonym lang="en">E-Cadherin</Synonym>
+              <Synonym lang="en">uvomorulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000039068</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CDH1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1748</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P12830</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>19997100[PMID]_18264097[PMID]_19383797[PMID]</SourceOfValidation>
+          <Gene id="19234">
+            <Name lang="en">microseminoprotein beta</Name>
+            <Symbol>MSMB</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">IGBF</Synonym>
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+              <Synonym lang="en">PSP57</Synonym>
+              <Synonym lang="en">PSP94</Synonym>
+              <Synonym lang="en">beta-microseminoprotein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+          <Gene id="21074">
+            <Name lang="en">RAD51 paralog D</Name>
+            <Symbol>RAD51D</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DNA repair protein RAD51 homolog 4</Synonym>
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+              <Synonym lang="en">recombination repair protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ATM serine/threonine kinase</Name>
+            <Symbol>ATM</Symbol>
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+              <Synonym lang="en">TELO1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149311</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1934</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="15556">
+            <Name lang="en">steroid 5 alpha-reductase 2</Name>
+            <Symbol>SRD5A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">3-oxo-5-alpha-steroid 4-dehydrogenase 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000277893</Reference>
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+                <Reference>SRD5A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11285</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607306</Reference>
+              </ExternalReference>
+              <ExternalReference id="57171">
+                <Source>Reactome</Source>
+                <Reference>P31213</Reference>
+              </ExternalReference>
+              <ExternalReference id="32527">
+                <Source>SwissProt</Source>
+                <Reference>P31213</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14423">
+                <GeneLocus>2p23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23141781[PMID]</SourceOfValidation>
+          <Gene id="15217">
+            <Name lang="en">ribonuclease L</Name>
+            <Symbol>RNASEL</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135828</Reference>
+              </ExternalReference>
+              <ExternalReference id="37335">
+                <Source>Genatlas</Source>
+                <Reference>RNASEL</Reference>
+              </ExternalReference>
+              <ExternalReference id="25462">
+                <Source>HGNC</Source>
+                <Reference>10050</Reference>
+              </ExternalReference>
+              <ExternalReference id="25461">
+                <Source>OMIM</Source>
+                <Reference>180435</Reference>
+              </ExternalReference>
+              <ExternalReference id="57789">
+                <Source>Reactome</Source>
+                <Reference>Q05823</Reference>
+              </ExternalReference>
+              <ExternalReference id="33775">
+                <Source>SwissProt</Source>
+                <Reference>Q05823</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21757">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22974436[PMID]_12237281[PMID]</SourceOfValidation>
+          <Gene id="15377">
+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 1</Synonym>
+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
+              </ExternalReference>
+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
+              </ExternalReference>
+              <ExternalReference id="26226">
+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
+              </ExternalReference>
+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
+              <ExternalReference id="33934">
+                <Source>SwissProt</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17700570[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33935">
+                <Source>SwissProt</Source>
+                <Reference>P51587</Reference>
+              </ExternalReference>
+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
+              </ExternalReference>
+              <ExternalReference id="26233">
+                <Source>Genatlas</Source>
+                <Reference>BRCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26231">
+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
+              </ExternalReference>
+              <ExternalReference id="26230">
+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
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+              <ExternalReference id="57416">
+                <Source>Reactome</Source>
+                <Reference>P51587</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15863">
+                <GeneLocus>13q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12533788[PMID]</SourceOfValidation>
+          <Gene id="15444">
+            <Name lang="en">checkpoint kinase 2</Name>
+            <Symbol>CHEK2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDS1</Synonym>
+              <Synonym lang="en">CHK2</Synonym>
+              <Synonym lang="en">HuCds1</Synonym>
+              <Synonym lang="en">PP1425</Synonym>
+              <Synonym lang="en">bA444G7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183765</Reference>
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+              <ExternalReference id="26546">
+                <Source>Genatlas</Source>
+                <Reference>CHEK2</Reference>
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+              <ExternalReference id="26548">
+                <Source>HGNC</Source>
+                <Reference>16627</Reference>
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+              <ExternalReference id="82809">
+                <Source>IUPHAR</Source>
+                <Reference>1988</Reference>
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+              <ExternalReference id="26547">
+                <Source>OMIM</Source>
+                <Reference>604373</Reference>
+              </ExternalReference>
+              <ExternalReference id="56953">
+                <Source>Reactome</Source>
+                <Reference>O96017</Reference>
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+              <ExternalReference id="32413">
+                <Source>SwissProt</Source>
+                <Reference>O96017</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23141781[PMID]</SourceOfValidation>
+          <Gene id="15970">
+            <Name lang="en">elaC ribonuclease Z 2</Name>
+            <Symbol>ELAC2</Symbol>
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+              <Synonym lang="en">FLJ10530</Synonym>
+              <Synonym lang="en">HPC2</Synonym>
+              <Synonym lang="en">tRNase Z (long form)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97214">
+                <Source>Reactome</Source>
+                <Reference>Q9BQ52</Reference>
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+              <ExternalReference id="32982">
+                <Source>SwissProt</Source>
+                <Reference>Q9BQ52</Reference>
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+              <ExternalReference id="57783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006744</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ELAC2</Reference>
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+              <ExternalReference id="29050">
+                <Source>HGNC</Source>
+                <Reference>14198</Reference>
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+              <ExternalReference id="29049">
+                <Source>OMIM</Source>
+                <Reference>605367</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16155194[PMID]</SourceOfValidation>
+          <Gene id="15984">
+            <Name lang="en">EPH receptor B2</Name>
+            <Symbol>EPHB2</Symbol>
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+              <Synonym lang="en">Hek5</Synonym>
+              <Synonym lang="en">Tyro5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57781">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133216</Reference>
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+              <ExternalReference id="37447">
+                <Source>Genatlas</Source>
+                <Reference>EPHB2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3393</Reference>
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+              <ExternalReference id="82900">
+                <Source>IUPHAR</Source>
+                <Reference>1831</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600997</Reference>
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+              <ExternalReference id="57782">
+                <Source>Reactome</Source>
+                <Reference>P29323</Reference>
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+              <ExternalReference id="32996">
+                <Source>SwissProt</Source>
+                <Reference>P29323</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22864661[PMID]_14973119[PMID]</SourceOfValidation>
+          <Gene id="16518">
+            <Name lang="en">nibrin</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7652</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18701471[PMID]</SourceOfValidation>
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+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">homeobox B13</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159184</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12244320[PMID]_23141781[PMID]</SourceOfValidation>
+          <Gene id="21078">
+            <Name lang="en">macrophage scavenger receptor 1</Name>
+            <Symbol>MSR1</Symbol>
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+              <Synonym lang="en">SCARA1</Synonym>
+              <Synonym lang="en">SR-A</Synonym>
+              <Synonym lang="en">SR-AI</Synonym>
+              <Synonym lang="en">SR-AII</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83337">
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+                <Reference>ENSG00000038945</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7376</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83336">
+                <Source>Reactome</Source>
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+      <Name lang="en">Alpha-thalassemia-X-linked intellectual disability syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301622[PMID]</SourceOfValidation>
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+            <Name lang="en">ATRX chromatin remodeler</Name>
+            <Symbol>ATRX</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085224</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>886</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300032</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P46100</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P46100</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2268</ExpertLink>
+      <Name lang="en">ICF syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>10588719[PMID]</SourceOfValidation>
+          <Gene id="15883">
+            <Name lang="en">DNA methyltransferase 3 beta</Name>
+            <Symbol>DNMT3B</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21906047[PMID]</SourceOfValidation>
+          <Gene id="20164">
+            <Name lang="en">zinc finger and BTB domain containing 24</Name>
+            <Symbol>ZBTB24</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26216346[PMID]</SourceOfValidation>
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+            <Symbol>CDCA7</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">helicase, lymphoid specific</Name>
+            <Symbol>HELLS</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119969</Reference>
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+                <Source>Genatlas</Source>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19668216[PMID]</SourceOfValidation>
+          <Gene id="18603">
+            <Name lang="en">inositol polyphosphate-5-phosphatase E</Name>
+            <Symbol>INPP5E</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CORS1</Synonym>
+              <Synonym lang="en">PPI5PIV</Synonym>
+              <Synonym lang="en">pharbin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57922">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148384</Reference>
+              </ExternalReference>
+              <ExternalReference id="42984">
+                <Source>Genatlas</Source>
+                <Reference>INPP5E</Reference>
+              </ExternalReference>
+              <ExternalReference id="42985">
+                <Source>HGNC</Source>
+                <Reference>21474</Reference>
+              </ExternalReference>
+              <ExternalReference id="46816">
+                <Source>OMIM</Source>
+                <Reference>613037</Reference>
+              </ExternalReference>
+              <ExternalReference id="83153">
+                <Source>Reactome</Source>
+                <Reference>Q9NRR6</Reference>
+              </ExternalReference>
+              <ExternalReference id="42986">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRR6</Reference>
+              </ExternalReference>
+              <ExternalReference id="190458">
+                <Source>IUPHAR</Source>
+                <Reference>1456</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60325">
+                <GeneLocus>9q34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21725307[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="20312">
+            <Name lang="en">tectonic family member 1</Name>
+            <Symbol>TCTN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ21127</Synonym>
+              <Synonym lang="en">JBTS13</Synonym>
+              <Synonym lang="en">TECT1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57923">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204852</Reference>
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+              <ExternalReference id="84659">
+                <Source>Genatlas</Source>
+                <Reference>TCTN1</Reference>
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+              <ExternalReference id="53206">
+                <Source>HGNC</Source>
+                <Reference>26113</Reference>
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+              <ExternalReference id="53207">
+                <Source>OMIM</Source>
+                <Reference>609863</Reference>
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+              <ExternalReference id="97313">
+                <Source>Reactome</Source>
+                <Reference>Q2MV58</Reference>
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+              <ExternalReference id="53208">
+                <Source>SwissProt</Source>
+                <Reference>Q2MV58</Reference>
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+            <LocusList count="1">
+              <Locus id="16873">
+                <GeneLocus>12q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24886560[PMID]</SourceOfValidation>
+          <Gene id="20293">
+            <Name lang="en">B9 domain containing 1</Name>
+            <Symbol>B9D1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">B9</Synonym>
+              <Synonym lang="en">EPPB9</Synonym>
+              <Synonym lang="en">MKS9</Synonym>
+              <Synonym lang="en">MKSR-1</Synonym>
+              <Synonym lang="en">endothelial precursor protein B9</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108641</Reference>
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+              <ExternalReference id="52286">
+                <Source>Genatlas</Source>
+                <Reference>B9D1</Reference>
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+              <ExternalReference id="52285">
+                <Source>HGNC</Source>
+                <Reference>24123</Reference>
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+              <ExternalReference id="53852">
+                <Source>OMIM</Source>
+                <Reference>614144</Reference>
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+              <ExternalReference id="97311">
+                <Source>Reactome</Source>
+                <Reference>Q9UPM9</Reference>
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+              <ExternalReference id="52287">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPM9</Reference>
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+                <GeneLocus>17p11.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22693042[PMID]_22152675[PMID]</SourceOfValidation>
+          <Gene id="20689">
+            <Name lang="en">transmembrane protein 237</Name>
+            <Symbol>TMEM237</Symbol>
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+              <Synonym lang="en">JBTS14</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155755</Reference>
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+              <ExternalReference id="55019">
+                <Source>Genatlas</Source>
+                <Reference>TMEM237</Reference>
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+              <ExternalReference id="55021">
+                <Source>HGNC</Source>
+                <Reference>14432</Reference>
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+              <ExternalReference id="55022">
+                <Source>OMIM</Source>
+                <Reference>614423</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96Q45</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22246503[PMID]</SourceOfValidation>
+          <Gene id="20825">
+            <Name lang="en">centrosomal protein 41</Name>
+            <Symbol>CEP41</Symbol>
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+              <Synonym lang="en">DKFZp762H1311</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83285">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106477</Reference>
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+              <ExternalReference id="61117">
+                <Source>Genatlas</Source>
+                <Reference>CEP41</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12370</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610523</Reference>
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+              <ExternalReference id="83284">
+                <Source>Reactome</Source>
+                <Reference>Q9BYV8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYV8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22425360[PMID]_22693042[PMID]</SourceOfValidation>
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+              <Synonym lang="en">FLJ13231</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83355">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197603</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>25801</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614571</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H799</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24360808[PMID]_24360803[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104218</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BVV6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26477546[PMID]</SourceOfValidation>
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+            <Name lang="en">centrosomal protein 104</Name>
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+              <Synonym lang="en">RP1-286D6.4</Synonym>
+              <Synonym lang="en">glycine, glutamate, thienylcyclohexylpiperidine binding protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="23605">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="15569">
+            <Name lang="en">SUFU negative regulator of hedgehog signaling</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107882</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28625504[PMID]</SourceOfValidation>
+          <Gene id="25514">
+            <Name lang="en">armadillo repeat containing 9</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135931</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z3E5</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="144783">
+                <Source>Genatlas</Source>
+                <Reference>ARMC9</Reference>
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+                <GeneLocus>2q37.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33131181[PMID]</SourceOfValidation>
+          <Gene id="30567">
+            <Name lang="en">chibby family member 1, beta catenin antagonist</Name>
+            <Symbol>CBY1</Symbol>
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+              <Synonym lang="en">Chibby</Synonym>
+              <Synonym lang="en">Chibby1</Synonym>
+              <Synonym lang="en">PIGEA-14</Synonym>
+              <Synonym lang="en">PIGEA14</Synonym>
+              <Synonym lang="en">chibby CTNNB1-mediated transcription inhibitor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
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+                <Reference>Q9Y3M2</Reference>
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+                <Reference>ENSG00000100211</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26830932[PMID]</SourceOfValidation>
+          <Gene id="16237">
+            <Name lang="en">HYLS1 centriolar and ciliogenesis associated</Name>
+            <Symbol>HYLS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ32915</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198331</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32453716[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33791682[PMID]</SourceOfValidation>
+          <Gene id="31559">
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+            <Symbol>TMEM218</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30269812[PMID]</SourceOfValidation>
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+            <Name lang="en">ADP ribosylation factor like GTPase 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26485283[PMID]</SourceOfValidation>
+          <Gene id="23431">
+            <Name lang="en">nucleoporin 107</Name>
+            <Symbol>NUP107</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NUP84</Synonym>
+              <Synonym lang="en">nuclear pore complex protein Nup107</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="96874">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111581</Reference>
+              </ExternalReference>
+              <ExternalReference id="96871">
+                <Source>Genatlas</Source>
+                <Reference>NUP107</Reference>
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+              <ExternalReference id="96869">
+                <Source>HGNC</Source>
+                <Reference>29914</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607617</Reference>
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+              <ExternalReference id="96873">
+                <Source>Reactome</Source>
+                <Reference>P57740</Reference>
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+              <ExternalReference id="96872">
+                <Source>SwissProt</Source>
+                <Reference>P57740</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>12q15</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30010909[PMID]</SourceOfValidation>
+          <Gene id="28734">
+            <Name lang="en">basonuclin 1</Name>
+            <Symbol>BNC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HsT19447</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1081</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169594</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01954</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34402903[PMID]</SourceOfValidation>
+          <Gene id="31453">
+            <Name lang="en">zinc finger SWIM-type containing 7</Name>
+            <Symbol>ZSWIM7</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214941</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q19AV6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30830215[PMID]</SourceOfValidation>
+          <Gene id="28619">
+            <Name lang="en">RNA polymerase III subunit H</Name>
+            <Symbol>POLR3H</Symbol>
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+              <Synonym lang="en">C25</Synonym>
+              <Synonym lang="en">KIAA1665</Synonym>
+              <Synonym lang="en">RPC8</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>30349</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100413</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y535</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y535</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27967308[PMID]</SourceOfValidation>
+          <Gene id="25448">
+            <Name lang="en">scaffold protein involved in DNA repair</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164808</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14159</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">CASIL</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>NOTCH3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UM47</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IZP9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173698</Reference>
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+              <Synonym lang="en">ATP-binding cassette sub-family C, member 7</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">caveolae associated protein 1</Name>
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+            <Name lang="en">caveolin 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
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+              <ExternalReference id="25637">
+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
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+              <ExternalReference id="82772">
+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
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+              <ExternalReference id="25636">
+                <Source>OMIM</Source>
+                <Reference>600163</Reference>
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+              <ExternalReference id="57473">
+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
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+              <ExternalReference id="33812">
+                <Source>SwissProt</Source>
+                <Reference>Q14524</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23275345[PMID]</SourceOfValidation>
+          <Gene id="18488">
+            <Name lang="en">natriuretic peptide A</Name>
+            <Symbol>NPPA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58829">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175206</Reference>
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+              <ExternalReference id="42524">
+                <Source>Genatlas</Source>
+                <Reference>NPPA</Reference>
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+              <ExternalReference id="42525">
+                <Source>HGNC</Source>
+                <Reference>7939</Reference>
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+              <ExternalReference id="42526">
+                <Source>OMIM</Source>
+                <Reference>108780</Reference>
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+              <ExternalReference id="58830">
+                <Source>Reactome</Source>
+                <Reference>P01160</Reference>
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+              <ExternalReference id="42527">
+                <Source>SwissProt</Source>
+                <Reference>P01160</Reference>
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+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="18198">
+      <OrphaCode>182050</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=182050</ExpertLink>
+      <Name lang="en">MYH9-related disease</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16503">
+            <Name lang="en">myosin heavy chain 9</Name>
+            <Symbol>MYH9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">EPSTS</Synonym>
+              <Synonym lang="en">FTNS</Synonym>
+              <Synonym lang="en">MHA</Synonym>
+              <Synonym lang="en">NMHC-II-A</Synonym>
+              <Synonym lang="en">NMMHCA</Synonym>
+              <Synonym lang="en">nonmuscle myosin heavy chain II-A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100345</Reference>
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+              <ExternalReference id="31604">
+                <Source>Genatlas</Source>
+                <Reference>MYH9</Reference>
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+              <ExternalReference id="31602">
+                <Source>HGNC</Source>
+                <Reference>7579</Reference>
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+              <ExternalReference id="31601">
+                <Source>OMIM</Source>
+                <Reference>160775</Reference>
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+              <ExternalReference id="57728">
+                <Source>Reactome</Source>
+                <Reference>P35579</Reference>
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+              <ExternalReference id="33568">
+                <Source>SwissProt</Source>
+                <Reference>P35579</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="971">
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+      <Name lang="en">Roberts syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301332[PMID]</SourceOfValidation>
+          <Gene id="15994">
+            <Name lang="en">establishment of sister chromatid cohesion N-acetyltransferase 2</Name>
+            <Symbol>ESCO2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EFO2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57887">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171320</Reference>
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+              <ExternalReference id="29182">
+                <Source>Genatlas</Source>
+                <Reference>ESCO2</Reference>
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+              <ExternalReference id="29180">
+                <Source>HGNC</Source>
+                <Reference>27230</Reference>
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+              <ExternalReference id="29179">
+                <Source>OMIM</Source>
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+              <ExternalReference id="82902">
+                <Source>Reactome</Source>
+                <Reference>Q56NI9</Reference>
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+              <ExternalReference id="33008">
+                <Source>SwissProt</Source>
+                <Reference>Q56NI9</Reference>
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+      <Name lang="en">Peters plus syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">beta 3-glucosyltransferase</Name>
+            <Symbol>B3GLCT</Symbol>
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+              <Synonym lang="en">B3Glc-T</Synonym>
+              <Synonym lang="en">beta-1,3-glucosyltransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20207</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q6Y288</Reference>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">KIAA0192</Synonym>
+              <Synonym lang="en">Kohtalo homolog</Synonym>
+              <Synonym lang="en">Kto</Synonym>
+              <Synonym lang="en">OKS</Synonym>
+              <Synonym lang="en">OPA1</Synonym>
+              <Synonym lang="en">TRAP230</Synonym>
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+                <Reference>ENSG00000184634</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">zinc finger DHHC-type palmitoyltransferase 9</Name>
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+                <Reference>18475</Reference>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">MRX82</Synonym>
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+              <Synonym lang="en">UPF3X</Synonym>
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+      <Name lang="en">NON RARE IN EUROPE: Wolff-Parkinson-White syndrome</Name>
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+              <Synonym lang="en">CMH6</Synonym>
+              <Synonym lang="en">H91620p</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">WRN RecQ like helicase</Name>
+            <Symbol>WRN</Symbol>
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+                <Source>Reactome</Source>
+                <Reference>Q14191</Reference>
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+                <Reference>Q14191</Reference>
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+                <Reference>ENSG00000165392</Reference>
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+                <Reference>WRN</Reference>
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+      <Name lang="en">Van der Woude syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16269">
+            <Name lang="en">interferon regulatory factor 6</Name>
+            <Symbol>IRF6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">OFC6</Synonym>
+              <Synonym lang="en">VWS1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117595</Reference>
+              </ExternalReference>
+              <ExternalReference id="30512">
+                <Source>Genatlas</Source>
+                <Reference>IRF6</Reference>
+              </ExternalReference>
+              <ExternalReference id="30510">
+                <Source>HGNC</Source>
+                <Reference>6121</Reference>
+              </ExternalReference>
+              <ExternalReference id="30509">
+                <Source>OMIM</Source>
+                <Reference>607199</Reference>
+              </ExternalReference>
+              <ExternalReference id="57139">
+                <Source>Reactome</Source>
+                <Reference>O14896</Reference>
+              </ExternalReference>
+              <ExternalReference id="33334">
+                <Source>SwissProt</Source>
+                <Reference>O14896</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23727">
+                <GeneLocus>1q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24360809[PMID]</SourceOfValidation>
+          <Gene id="22597">
+            <Name lang="en">grainyhead like transcription factor 3</Name>
+            <Symbol>GRHL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SOM</Synonym>
+              <Synonym lang="en">sister-of-mammalian grainyhead</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143939">
+                <Source>Reactome</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+              <ExternalReference id="85387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158055</Reference>
+              </ExternalReference>
+              <ExternalReference id="85232">
+                <Source>Genatlas</Source>
+                <Reference>GRHL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="85230">
+                <Source>HGNC</Source>
+                <Reference>25839</Reference>
+              </ExternalReference>
+              <ExternalReference id="85231">
+                <Source>OMIM</Source>
+                <Reference>608317</Reference>
+              </ExternalReference>
+              <ExternalReference id="85233">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39345">
+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="965">
+      <OrphaCode>871</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=871</ExpertLink>
+      <Name lang="en">Familial progressive cardiac conduction defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18464934[PMID]</SourceOfValidation>
+          <Gene id="15251">
+            <Name lang="en">sodium voltage-gated channel beta subunit 1</Name>
+            <Symbol>SCN1B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105711</Reference>
+              </ExternalReference>
+              <ExternalReference id="25624">
+                <Source>Genatlas</Source>
+                <Reference>SCN1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="25622">
+                <Source>HGNC</Source>
+                <Reference>10586</Reference>
+              </ExternalReference>
+              <ExternalReference id="25621">
+                <Source>OMIM</Source>
+                <Reference>600235</Reference>
+              </ExternalReference>
+              <ExternalReference id="58779">
+                <Source>Reactome</Source>
+                <Reference>Q07699</Reference>
+              </ExternalReference>
+              <ExternalReference id="33809">
+                <Source>SwissProt</Source>
+                <Reference>Q07699</Reference>
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+                <GeneLocus>19q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12598077[PMID]_19251209[PMID]_22717692[PMID]</SourceOfValidation>
+          <Gene id="15254">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 5</Name>
+            <Symbol>SCN5A</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">CDCD2</Synonym>
+              <Synonym lang="en">CMPD2</Synonym>
+              <Synonym lang="en">HB1</Synonym>
+              <Synonym lang="en">HB2</Synonym>
+              <Synonym lang="en">HBBD</Synonym>
+              <Synonym lang="en">HH1</Synonym>
+              <Synonym lang="en">ICCD</Synonym>
+              <Synonym lang="en">IVF</Synonym>
+              <Synonym lang="en">LQT3</Synonym>
+              <Synonym lang="en">Nav1.5</Synonym>
+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
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+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
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+              <ExternalReference id="25637">
+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
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+              <ExternalReference id="82772">
+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
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+              <ExternalReference id="25636">
+                <Source>OMIM</Source>
+                <Reference>600163</Reference>
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+              <ExternalReference id="57473">
+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
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+              <ExternalReference id="33812">
+                <Source>SwissProt</Source>
+                <Reference>Q14524</Reference>
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+                <GeneLocus>3p22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22179962[PMID]</SourceOfValidation>
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+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
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+                <GeneLocus>5q34</GeneLocus>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19726882[PMID]_20562447[PMID]</SourceOfValidation>
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+            <Name lang="en">transient receptor potential cation channel subfamily M member 4</Name>
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+              <Synonym lang="en">FLJ20041</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="43052">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD43</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130529</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17993</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>496</Reference>
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+    <Disorder id="1090">
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+      <Name lang="en">Monosomy 13q14</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">RB transcriptional corepressor 1</Name>
+            <Symbol>RB1</Symbol>
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+              <Synonym lang="en">prepro-retinoblastoma-associated protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 130</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139687</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>614041</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P06400</Reference>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2488</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">nuclear receptor binding SET domain protein 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>14234</Reference>
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+                <Reference>606681</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96L73</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96L73</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+              <Synonym lang="en">SHP-2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179295</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9644</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176876</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q06124</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q06124</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301557[PMID]</SourceOfValidation>
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+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301557[PMID]</SourceOfValidation>
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+            <Name lang="en">Raf-1 proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>RAF1</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">CRAF</Synonym>
+              <Synonym lang="en">Raf-1</Synonym>
+              <Synonym lang="en">c-Raf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>CHN1</Symbol>
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+              <Synonym lang="en">chimaerin 1</Synonym>
+              <Synonym lang="en">n-chimerin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57327">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
+              </ExternalReference>
+              <ExternalReference id="34945">
+                <Source>Genatlas</Source>
+                <Reference>TERT</Reference>
+              </ExternalReference>
+              <ExternalReference id="34943">
+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
+              </ExternalReference>
+              <ExternalReference id="34944">
+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
+              </ExternalReference>
+              <ExternalReference id="57328">
+                <Source>Reactome</Source>
+                <Reference>O14746</Reference>
+              </ExternalReference>
+              <ExternalReference id="35095">
+                <Source>SwissProt</Source>
+                <Reference>O14746</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28170043[PMID]</SourceOfValidation>
+          <Gene id="20738">
+            <Name lang="en">BRCA1 associated protein 1</Name>
+            <Symbol>BAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0272</Synonym>
+              <Synonym lang="en">UCHL2</Synonym>
+              <Synonym lang="en">hucep-6</Synonym>
+              <Synonym lang="en">ubiquitin carboxy-terminal hydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126405">
+                <Source>Reactome</Source>
+                <Reference>Q92560</Reference>
+              </ExternalReference>
+              <ExternalReference id="60620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163930</Reference>
+              </ExternalReference>
+              <ExternalReference id="55818">
+                <Source>Genatlas</Source>
+                <Reference>BAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="55816">
+                <Source>HGNC</Source>
+                <Reference>950</Reference>
+              </ExternalReference>
+              <ExternalReference id="83235">
+                <Source>IUPHAR</Source>
+                <Reference>2332</Reference>
+              </ExternalReference>
+              <ExternalReference id="55817">
+                <Source>OMIM</Source>
+                <Reference>603089</Reference>
+              </ExternalReference>
+              <ExternalReference id="55819">
+                <Source>SwissProt</Source>
+                <Reference>Q92560</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28170043[PMID]</SourceOfValidation>
+          <Gene id="20738">
+            <Name lang="en">BRCA1 associated protein 1</Name>
+            <Symbol>BAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0272</Synonym>
+              <Synonym lang="en">UCHL2</Synonym>
+              <Synonym lang="en">hucep-6</Synonym>
+              <Synonym lang="en">ubiquitin carboxy-terminal hydrolase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Source>Reactome</Source>
+                <Reference>Q92560</Reference>
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+              <ExternalReference id="60620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163930</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BAP1</Reference>
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+              <ExternalReference id="55816">
+                <Source>HGNC</Source>
+                <Reference>950</Reference>
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+              <ExternalReference id="83235">
+                <Source>IUPHAR</Source>
+                <Reference>2332</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603089</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92560</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23377182[PMID]</SourceOfValidation>
+          <Gene id="22035">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1</Name>
+            <Symbol>SMARCE1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BAF57</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073584</Reference>
+              </ExternalReference>
+              <ExternalReference id="78755">
+                <Source>Genatlas</Source>
+                <Reference>SMARCE1</Reference>
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+              <ExternalReference id="78753">
+                <Source>HGNC</Source>
+                <Reference>11109</Reference>
+              </ExternalReference>
+              <ExternalReference id="78754">
+                <Source>OMIM</Source>
+                <Reference>603111</Reference>
+              </ExternalReference>
+              <ExternalReference id="91601">
+                <Source>Reactome</Source>
+                <Reference>Q969G3</Reference>
+              </ExternalReference>
+              <ExternalReference id="78756">
+                <Source>SwissProt</Source>
+                <Reference>Q969G3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23334667[PMID]_23348505[PMID]</SourceOfValidation>
+          <Gene id="26770">
+            <Name lang="en">TNF receptor associated factor 7</Name>
+            <Symbol>TRAF7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586I021</Synonym>
+              <Synonym lang="en">MGC7807</Synonym>
+              <Synonym lang="en">RNF119</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="200731">
+                <Source>SwissProt</Source>
+                <Reference>Q6Q0C0</Reference>
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+              <ExternalReference id="156462">
+                <Source>HGNC</Source>
+                <Reference>20456</Reference>
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+              <ExternalReference id="156582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131653</Reference>
+              </ExternalReference>
+              <ExternalReference id="156841">
+                <Source>Genatlas</Source>
+                <Reference>TRAF7</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606692</Reference>
+              </ExternalReference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23334667[PMID]_23348505[PMID]</SourceOfValidation>
+          <Gene id="23908">
+            <Name lang="en">smoothened, frizzled class receptor</Name>
+            <Symbol>SMO</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FZD11</Synonym>
+              <Synonym lang="en">frizzled family member 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="103982">
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+                <Reference>11119</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601500</Reference>
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+                <Reference>SMO</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99835</Reference>
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+              <ExternalReference id="103986">
+                <Source>Reactome</Source>
+                <Reference>Q99835</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128602</Reference>
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+          </DisorderGeneAssociationType>
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+          </DisorderGeneAssociationStatus>
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+      <OrphaCode>569</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=569</ExpertLink>
+      <Name lang="en">Familial or sporadic hemiplegic migraine</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">sodium voltage-gated channel alpha subunit 1</Name>
+            <Symbol>SCN1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEFSP2</Synonym>
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">NAC1</Synonym>
+              <Synonym lang="en">Nav1.1</Synonym>
+              <Synonym lang="en">SMEI</Synonym>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144285</Reference>
+              </ExternalReference>
+              <ExternalReference id="36261">
+                <Source>Genatlas</Source>
+                <Reference>SCN1A</Reference>
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+                <Reference>10585</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>578</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>CACNA1A</Symbol>
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+              <Synonym lang="en">Cav2.1</Synonym>
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+                <Source>Reactome</Source>
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+            <SynonymList count="4">
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+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-2</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-2</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
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+                <Reference>ENSG00000167371</Reference>
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+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165288</Reference>
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+                <Reference>BRWD3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17342</Reference>
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+                <Reference>300553</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17632775[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
+              </ExternalReference>
+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
+              </ExternalReference>
+              <ExternalReference id="29504">
+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
+              </ExternalReference>
+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
+              </ExternalReference>
+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8559">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17704778[PMID]</SourceOfValidation>
+          <Gene id="17318">
+            <Name lang="en">UPF3B regulator of nonsense mediated mRNA decay</Name>
+            <Symbol>UPF3B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HUPF3B</Synonym>
+              <Synonym lang="en">MRX82</Synonym>
+              <Synonym lang="en">RENT3B</Synonym>
+              <Synonym lang="en">UPF3X</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57890">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125351</Reference>
+              </ExternalReference>
+              <ExternalReference id="36801">
+                <Source>Genatlas</Source>
+                <Reference>UPF3B</Reference>
+              </ExternalReference>
+              <ExternalReference id="36803">
+                <Source>HGNC</Source>
+                <Reference>20439</Reference>
+              </ExternalReference>
+              <ExternalReference id="36802">
+                <Source>OMIM</Source>
+                <Reference>300298</Reference>
+              </ExternalReference>
+              <ExternalReference id="57891">
+                <Source>Reactome</Source>
+                <Reference>Q9BZI7</Reference>
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+              <ExternalReference id="36804">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZI7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14327">
+                <GeneLocus>Xq24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19200522[PMID]</SourceOfValidation>
+          <Gene id="17592">
+            <Name lang="en">calcium/calmodulin dependent serine protein kinase</Name>
+            <Symbol>CASK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAGH39</Synonym>
+              <Synonym lang="en">FGS4</Synonym>
+              <Synonym lang="en">LIN2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57955">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147044</Reference>
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+              <ExternalReference id="38688">
+                <Source>Genatlas</Source>
+                <Reference>CASK</Reference>
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+              <ExternalReference id="38796">
+                <Source>HGNC</Source>
+                <Reference>1497</Reference>
+              </ExternalReference>
+              <ExternalReference id="83107">
+                <Source>IUPHAR</Source>
+                <Reference>1959</Reference>
+              </ExternalReference>
+              <ExternalReference id="38690">
+                <Source>OMIM</Source>
+                <Reference>300172</Reference>
+              </ExternalReference>
+              <ExternalReference id="82666">
+                <Source>Reactome</Source>
+                <Reference>O14936</Reference>
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+              <ExternalReference id="82612">
+                <Source>SwissProt</Source>
+                <Reference>O14936</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10309">
+                <GeneLocus>Xp11.4</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1043">
+      <OrphaCode>240</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=240</ExpertLink>
+      <Name lang="en">Léri-Weill dyschondrosteosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301394[PMID]</SourceOfValidation>
+          <Gene id="15291">
+            <Name lang="en">short stature homeobox</Name>
+            <Symbol>SHOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GCFX</Synonym>
+              <Synonym lang="en">PHOG</Synonym>
+              <Synonym lang="en">SHOXY</Synonym>
+              <Synonym lang="en">SS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="36285">
+                <Source>OMIM</Source>
+                <Reference>312865</Reference>
+              </ExternalReference>
+              <ExternalReference id="95202">
+                <Source>OMIM</Source>
+                <Reference>400020</Reference>
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+              <ExternalReference id="33849">
+                <Source>SwissProt</Source>
+                <Reference>O15266</Reference>
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+              <ExternalReference id="57939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185960</Reference>
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+              <ExternalReference id="25813">
+                <Source>Genatlas</Source>
+                <Reference>SHOX</Reference>
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+              <ExternalReference id="25815">
+                <Source>HGNC</Source>
+                <Reference>10853</Reference>
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+            <LocusList count="1">
+              <Locus id="69349">
+                <GeneLocus>Xp22.33 and Yp11.32</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1042">
+      <OrphaCode>2311</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2311</ExpertLink>
+      <Name lang="en">Autosomal recessive spondylocostal dysostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
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+          <SourceOfValidation>20301771[PMID]</SourceOfValidation>
+          <Gene id="15873">
+            <Name lang="en">delta like canonical Notch ligand 3</Name>
+            <Symbol>DLL3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SCDO1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="28594">
+                <Source>Genatlas</Source>
+                <Reference>DLL3</Reference>
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+              <ExternalReference id="28592">
+                <Source>HGNC</Source>
+                <Reference>2909</Reference>
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+              <ExternalReference id="28591">
+                <Source>OMIM</Source>
+                <Reference>602768</Reference>
+              </ExternalReference>
+              <ExternalReference id="32884">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYJ7</Reference>
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+              <ExternalReference id="57934">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090932</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301771[PMID]</SourceOfValidation>
+          <Gene id="16868">
+            <Name lang="en">mesoderm posterior bHLH transcription factor 2</Name>
+            <Symbol>MESP2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SCDO2</Synonym>
+              <Synonym lang="en">bHLHc6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57938">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188095</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>29659</Reference>
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+              <ExternalReference id="35298">
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+                <Reference>605195</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q0VG99</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301771[PMID]</SourceOfValidation>
+          <Gene id="17389">
+            <Name lang="en">LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase</Name>
+            <Symbol>LFNG</Symbol>
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+              <Synonym lang="en">SCDO3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57936">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106003</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LFNG</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6560</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301771[PMID]</SourceOfValidation>
+          <Gene id="17570">
+            <Name lang="en">hes family bHLH transcription factor 7</Name>
+            <Symbol>HES7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">bHLH factor Hes7</Synonym>
+              <Synonym lang="en">bHLHb37</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143053">
+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179111</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>15977</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYE0</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ripply transcriptional repressor 2</Name>
+            <Symbol>RIPPLY2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96281">
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+                <Reference>ENSG00000203877</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>609891</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 12 member 3</Name>
+            <Symbol>SLC12A3</Symbol>
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+              <Synonym lang="en">NCCT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070915</Reference>
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+                <Reference>970</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20931281[PMID]_19265611[PMID]_18667063[PMID]</SourceOfValidation>
+          <Gene id="15461">
+            <Name lang="en">chloride voltage-gated channel Kb</Name>
+            <Symbol>CLCNKB</Symbol>
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+              <Synonym lang="en">hClC-Kb</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>701</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184908</Reference>
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+                <Reference>CLCNKB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2027</Reference>
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+                <Reference>602023</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51801</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51801</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>242</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=242</ExpertLink>
+      <Name lang="en">46,XY complete gonadal dysgenesis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31337883[PMID]</SourceOfValidation>
+          <Gene id="29246">
+            <Name lang="en">DEAH-box helicase 37</Name>
+            <Symbol>DHX37</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Dhr1</Synonym>
+              <Synonym lang="en">KIAA1517</Synonym>
+              <Synonym lang="en">MGC2695</Synonym>
+              <Synonym lang="en">MGC4322</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="184099">
+                <Source>HGNC</Source>
+                <Reference>17210</Reference>
+              </ExternalReference>
+              <ExternalReference id="184100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150990</Reference>
+              </ExternalReference>
+              <ExternalReference id="184101">
+                <Source>SwissProt</Source>
+                <Reference>Q8IY37</Reference>
+              </ExternalReference>
+              <ExternalReference id="184102">
+                <Source>Reactome</Source>
+                <Reference>Q8IY37</Reference>
+              </ExternalReference>
+              <ExternalReference id="184103">
+                <Source>OMIM</Source>
+                <Reference>617362</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="55329">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25613702_21384108_21314844[PMID]</SourceOfValidation>
+          <Gene id="15731">
+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
+              </ExternalReference>
+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27922">
+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
+              </ExternalReference>
+              <ExternalReference id="27921">
+                <Source>OMIM</Source>
+                <Reference>607102</Reference>
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+              <ExternalReference id="32703">
+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
+              </ExternalReference>
+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="39273">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22051515[PMID]</SourceOfValidation>
+          <Gene id="15541">
+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125398</Reference>
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+              <ExternalReference id="27026">
+                <Source>Genatlas</Source>
+                <Reference>SOX9</Reference>
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+              <ExternalReference id="27024">
+                <Source>HGNC</Source>
+                <Reference>11204</Reference>
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+              <ExternalReference id="27023">
+                <Source>OMIM</Source>
+                <Reference>608160</Reference>
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+              <ExternalReference id="97182">
+                <Source>Reactome</Source>
+                <Reference>P48436</Reference>
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+              <ExternalReference id="32512">
+                <Source>SwissProt</Source>
+                <Reference>P48436</Reference>
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+                <GeneLocus>17q24.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301714[PMID]</SourceOfValidation>
+          <Gene id="15558">
+            <Name lang="en">sex determining region Y</Name>
+            <Symbol>SRY</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TDF</Synonym>
+              <Synonym lang="en">testis-determining factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184895</Reference>
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+              <ExternalReference id="27106">
+                <Source>Genatlas</Source>
+                <Reference>SRY</Reference>
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+              <ExternalReference id="27108">
+                <Source>HGNC</Source>
+                <Reference>11311</Reference>
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+                <Source>OMIM</Source>
+                <Reference>480000</Reference>
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+              <ExternalReference id="97183">
+                <Source>Reactome</Source>
+                <Reference>Q05066</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q05066</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301714[PMID]</SourceOfValidation>
+          <Gene id="15863">
+            <Name lang="en">desert hedgehog signaling molecule</Name>
+            <Symbol>DHH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HHG-3</Synonym>
+              <Synonym lang="en">MGC35145</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57316">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139549</Reference>
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+              <ExternalReference id="28547">
+                <Source>Genatlas</Source>
+                <Reference>DHH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2865</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57317">
+                <Source>Reactome</Source>
+                <Reference>O43323</Reference>
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+              <ExternalReference id="32874">
+                <Source>SwissProt</Source>
+                <Reference>O43323</Reference>
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+                <GeneLocus>12q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301714[PMID]</SourceOfValidation>
+          <Gene id="17744">
+            <Name lang="en">nuclear receptor subfamily 5 group A member 1</Name>
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+              <Synonym lang="en">AD4BP</Synonym>
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+              <Synonym lang="en">SF1</Synonym>
+              <Synonym lang="en">hSF-1</Synonym>
+              <Synonym lang="en">steroidogenic factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136931</Reference>
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+              <ExternalReference id="39474">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13285</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30879272[PMID]</SourceOfValidation>
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+            <Name lang="en">nuclear receptor subfamily 0 group B member 1</Name>
+            <Symbol>NR0B1</Symbol>
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+              <Synonym lang="en">AHCH</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>300473</Reference>
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+              <ExternalReference id="57945">
+                <Source>Reactome</Source>
+                <Reference>P51843</Reference>
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+              <ExternalReference id="33634">
+                <Source>SwissProt</Source>
+                <Reference>P51843</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">mitogen-activated protein kinase kinase kinase 1</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">doublesex and mab-3 related transcription factor 1</Name>
+            <Symbol>DMRT1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Fraser syndrome</Name>
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+            <Symbol>FRAS1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138759</Reference>
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+                <Reference>19185</Reference>
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+          <SourceOfValidation>18671281[PMID]</SourceOfValidation>
+          <Gene id="16072">
+            <Name lang="en">FRAS1 related extracellular matrix 2</Name>
+            <Symbol>FREM2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22510445[PMID]</SourceOfValidation>
+          <Gene id="21167">
+            <Name lang="en">glutamate receptor interacting protein 1</Name>
+            <Symbol>GRIP1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83395">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155974</Reference>
+              </ExternalReference>
+              <ExternalReference id="69623">
+                <Source>Genatlas</Source>
+                <Reference>GRIP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="69621">
+                <Source>HGNC</Source>
+                <Reference>18708</Reference>
+              </ExternalReference>
+              <ExternalReference id="69622">
+                <Source>OMIM</Source>
+                <Reference>604597</Reference>
+              </ExternalReference>
+              <ExternalReference id="83394">
+                <Source>Reactome</Source>
+                <Reference>Q9Y3R0</Reference>
+              </ExternalReference>
+              <ExternalReference id="69624">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3R0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23073">
+                <GeneLocus>12q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1071">
+      <OrphaCode>1358</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1358</ExpertLink>
+      <Name lang="en">Carey-Fineman-Ziter syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35642635[PMID]</SourceOfValidation>
+          <Gene id="31535">
+            <Name lang="en">myomixer, myoblast fusion factor</Name>
+            <Symbol>MYMX</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="209019">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000262179</Reference>
+              </ExternalReference>
+              <ExternalReference id="209020">
+                <Source>OMIM</Source>
+                <Reference>619912</Reference>
+              </ExternalReference>
+              <ExternalReference id="209021">
+                <Source>SwissProt</Source>
+                <Reference>A0A1B0GTQ4</Reference>
+              </ExternalReference>
+              <ExternalReference id="207683">
+                <Source>HGNC</Source>
+                <Reference>52391</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88755">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28681861[PMID]</SourceOfValidation>
+          <Gene id="25441">
+            <Name lang="en">myomaker, myoblast fusion factor</Name>
+            <Symbol>MYMK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TMEM226</Synonym>
+              <Synonym lang="en">transmembrane protein 226</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="144320">
+                <Source>HGNC</Source>
+                <Reference>33778</Reference>
+              </ExternalReference>
+              <ExternalReference id="144321">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187616</Reference>
+              </ExternalReference>
+              <ExternalReference id="144322">
+                <Source>SwissProt</Source>
+                <Reference>A6NI61</Reference>
+              </ExternalReference>
+              <ExternalReference id="144323">
+                <Source>OMIM</Source>
+                <Reference>615345</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40049">
+                <GeneLocus>9q34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1059">
+      <OrphaCode>111</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=111</ExpertLink>
+      <Name lang="en">Barth syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23843353[PMID]</SourceOfValidation>
+          <Gene id="15580">
+            <Name lang="en">tafazzin, phospholipid-lysophospholipid transacylase</Name>
+            <Symbol>TAFAZZIN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BTHS</Synonym>
+              <Synonym lang="en">Barth syndrome</Synonym>
+              <Synonym lang="en">G4.5</Synonym>
+              <Synonym lang="en">TAZ1</Synonym>
+              <Synonym lang="en">XAP-2</Synonym>
+              <Synonym lang="en">transcriptional coactivator with PDZ-binding motif</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102125</Reference>
+              </ExternalReference>
+              <ExternalReference id="27208">
+                <Source>Genatlas</Source>
+                <Reference>TAZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="27210">
+                <Source>HGNC</Source>
+                <Reference>11577</Reference>
+              </ExternalReference>
+              <ExternalReference id="27209">
+                <Source>OMIM</Source>
+                <Reference>300394</Reference>
+              </ExternalReference>
+              <ExternalReference id="57477">
+                <Source>Reactome</Source>
+                <Reference>Q16635</Reference>
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+              <ExternalReference id="32551">
+                <Source>SwissProt</Source>
+                <Reference>Q16635</Reference>
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+            <LocusList count="1">
+              <Locus id="7677">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1062">
+      <OrphaCode>1308</OrphaCode>
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+      <Name lang="en">C syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17847009[PMID]_19449408[PMID]</SourceOfValidation>
+          <Gene id="16799">
+            <Name lang="en">CD96 molecule</Name>
+            <Symbol>CD96</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TACTILE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57959">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153283</Reference>
+              </ExternalReference>
+              <ExternalReference id="34993">
+                <Source>Genatlas</Source>
+                <Reference>CD96</Reference>
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+              <ExternalReference id="34994">
+                <Source>HGNC</Source>
+                <Reference>16892</Reference>
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+              <ExternalReference id="34996">
+                <Source>OMIM</Source>
+                <Reference>606037</Reference>
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+              <ExternalReference id="57960">
+                <Source>Reactome</Source>
+                <Reference>P40200</Reference>
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+              <ExternalReference id="34995">
+                <Source>SwissProt</Source>
+                <Reference>P40200</Reference>
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+            <LocusList count="1">
+              <Locus id="27043">
+                <GeneLocus>3q13.13-q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="1063">
+      <OrphaCode>150</OrphaCode>
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+      <Name lang="en">Nasopharyngeal carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>27647909[PMID]</SourceOfValidation>
+          <Gene id="17400">
+            <Name lang="en">NFKB inhibitor alpha</Name>
+            <Symbol>NFKBIA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">IKBA</Synonym>
+              <Synonym lang="en">IkappaBalpha</Synonym>
+              <Synonym lang="en">MAD-3</Synonym>
+              <Synonym lang="en">NF-kappa-B inhibitor alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000100906</Reference>
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+              <ExternalReference id="37271">
+                <Source>Genatlas</Source>
+                <Reference>NFKBIA</Reference>
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+              <ExternalReference id="37272">
+                <Source>HGNC</Source>
+                <Reference>7797</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164008</Reference>
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+              <ExternalReference id="58725">
+                <Source>Reactome</Source>
+                <Reference>P25963</Reference>
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+              <ExternalReference id="37273">
+                <Source>SwissProt</Source>
+                <Reference>P25963</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>133</OrphaCode>
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+      <Name lang="en">Chronic beryllium disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">major histocompatibility complex, class II, DP beta 1</Name>
+            <Symbol>HLA-DPB1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83969">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000223865</Reference>
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+              <ExternalReference id="81353">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DPB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4940</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142858</Reference>
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+              <ExternalReference id="83968">
+                <Source>Reactome</Source>
+                <Reference>P04440</Reference>
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+              <ExternalReference id="81354">
+                <Source>SwissProt</Source>
+                <Reference>P04440</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1082">
+      <OrphaCode>1552</OrphaCode>
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+      <Name lang="en">Currarino syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22820079[PMID]_23370340[PMID]</SourceOfValidation>
+          <Gene id="16832">
+            <Name lang="en">motor neuron and pancreas homeobox 1</Name>
+            <Symbol>MNX1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HB9</Synonym>
+              <Synonym lang="en">HOXHB9</Synonym>
+              <Synonym lang="en">SCRA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130675</Reference>
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+              <ExternalReference id="35164">
+                <Source>Genatlas</Source>
+                <Reference>MNX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4979</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142994</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50219</Reference>
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+                <GeneLocus>7q36.3</GeneLocus>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>624</OrphaCode>
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+      <Name lang="en">Familial multiple nevi flammei</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">G protein subunit alpha q</Name>
+            <Symbol>GNAQ</Symbol>
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+              <Synonym lang="en">G-ALPHA-q</Synonym>
+              <Synonym lang="en">GAQ</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>2914</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156052</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4390</Reference>
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+                <Reference>600998</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P50148</Reference>
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+                <Reference>P50148</Reference>
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+      <OrphaCode>3000</OrphaCode>
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+      <Name lang="en">Familial male-limited precocious puberty</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16354">
+            <Name lang="en">luteinizing hormone/choriogonadotropin receptor</Name>
+            <Symbol>LHCGR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LCGR</Synonym>
+              <Synonym lang="en">LGR2</Synonym>
+              <Synonym lang="en">LHR</Synonym>
+              <Synonym lang="en">ULG5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138039</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LHCGR</Reference>
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+                <Reference>6585</Reference>
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+                <Reference>254</Reference>
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+                <Source>OMIM</Source>
+                <Reference>152790</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P22888</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22888</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1247">
+      <OrphaCode>920</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=920</ExpertLink>
+      <Name lang="en">Ablepharon macrostomia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26119818[PMID]</SourceOfValidation>
+          <Gene id="19313">
+            <Name lang="en">twist family bHLH transcription factor 2</Name>
+            <Symbol>TWIST2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DERMO1</Synonym>
+              <Synonym lang="en">Dermo-1</Synonym>
+              <Synonym lang="en">bHLHa39</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000233608</Reference>
+              </ExternalReference>
+              <ExternalReference id="143878">
+                <Source>Reactome</Source>
+                <Reference>Q8WVJ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="47714">
+                <Source>Genatlas</Source>
+                <Reference>TWIST2</Reference>
+              </ExternalReference>
+              <ExternalReference id="47715">
+                <Source>HGNC</Source>
+                <Reference>20670</Reference>
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+              <ExternalReference id="47717">
+                <Source>OMIM</Source>
+                <Reference>607556</Reference>
+              </ExternalReference>
+              <ExternalReference id="47716">
+                <Source>SwissProt</Source>
+                <Reference>Q8WVJ9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39221">
+                <GeneLocus>2q37.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1242">
+      <OrphaCode>7</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=7</ExpertLink>
+      <Name lang="en">3C syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24065355[PMID]</SourceOfValidation>
+          <Gene id="16301">
+            <Name lang="en">WASH complex subunit 5</Name>
+            <Symbol>WASHC5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">strumpellin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59994">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164961</Reference>
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+              <ExternalReference id="36960">
+                <Source>Genatlas</Source>
+                <Reference>KIAA0196</Reference>
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+              <ExternalReference id="30668">
+                <Source>HGNC</Source>
+                <Reference>28984</Reference>
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+              <ExternalReference id="30667">
+                <Source>OMIM</Source>
+                <Reference>610657</Reference>
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+              <ExternalReference id="33366">
+                <Source>SwissProt</Source>
+                <Reference>Q12768</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9019">
+                <GeneLocus>8q24.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24916641[PMID]</SourceOfValidation>
+          <Gene id="22996">
+            <Name lang="en">coiled-coil domain containing 22</Name>
+            <Symbol>CCDC22</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>O60826</Reference>
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+              <ExternalReference id="94629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101997</Reference>
+              </ExternalReference>
+              <ExternalReference id="94627">
+                <Source>Genatlas</Source>
+                <Reference>CCDC22</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28909</Reference>
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+              <ExternalReference id="94626">
+                <Source>OMIM</Source>
+                <Reference>300859</Reference>
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+              <ExternalReference id="94628">
+                <Source>SwissProt</Source>
+                <Reference>O60826</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1255">
+      <OrphaCode>931</OrphaCode>
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+      <Name lang="en">Acheiropodia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11090342[PMID]</SourceOfValidation>
+          <Gene id="16363">
+            <Name lang="en">limb development membrane protein 1</Name>
+            <Symbol>LMBR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ACHP</Synonym>
+              <Synonym lang="en">FLJ11665</Synonym>
+              <Synonym lang="en">ZRS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105983</Reference>
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+              <ExternalReference id="36540">
+                <Source>Genatlas</Source>
+                <Reference>LMBR1</Reference>
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+              <ExternalReference id="30958">
+                <Source>HGNC</Source>
+                <Reference>13243</Reference>
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+              <ExternalReference id="30957">
+                <Source>OMIM</Source>
+                <Reference>605522</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WVP7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="1253">
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+      <Name lang="en">Triple A syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27707803[PMID]</SourceOfValidation>
+          <Gene id="22554">
+            <Name lang="en">trafficking protein particle complex subunit 11</Name>
+            <Symbol>TRAPPC11</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ12716</Synonym>
+              <Synonym lang="en">foie gras homolog (zebrafish)</Synonym>
+              <Synonym lang="en">foigr</Synonym>
+              <Synonym lang="en">gry</Synonym>
+              <Synonym lang="en">gryzun homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168538</Reference>
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+              <ExternalReference id="84105">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>25751</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614138</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z392</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z392</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11159947[PMID]_20674935[PMID]_11815731[PMID]</SourceOfValidation>
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+            <Name lang="en">aladin WD repeat nucleoporin</Name>
+            <Symbol>AAAS</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">aladin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000094914</Reference>
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+                <Reference>13666</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24035193[PMID]</SourceOfValidation>
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+            <Name lang="en">GDP-mannose pyrophosphorylase A</Name>
+            <Symbol>GMPPA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144591</Reference>
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+                <Reference>GMPPA</Reference>
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+                <Reference>22923</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Insulin-resistance syndrome type A</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">insulin receptor</Name>
+            <Symbol>INSR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD220</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="30482">
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+                <Reference>147670</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P06213</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171105</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>INSR</Reference>
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+                <Reference>6091</Reference>
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+                <Reference>1800</Reference>
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+        <Name lang="en">Malformation syndrome</Name>
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+            <Name lang="en">T-box transcription factor 22</Name>
+            <Symbol>TBX22</Symbol>
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+                <Reference>300307</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y458</Reference>
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+          <Gene id="23341">
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+                <Reference>ENSG00000105953</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q02218</Reference>
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+      <OrphaCode>37</OrphaCode>
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+      <Name lang="en">Acrodermatitis enteropathica</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22166942[PMID]_22082465[PMID]_12787121[PMID]</SourceOfValidation>
+          <Gene id="15464">
+            <Name lang="en">solute carrier family 39 member 4</Name>
+            <Symbol>SLC39A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AWMS2</Synonym>
+              <Synonym lang="en">ZIP4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57982">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147804</Reference>
+              </ExternalReference>
+              <ExternalReference id="26651">
+                <Source>Genatlas</Source>
+                <Reference>SLC39A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="26649">
+                <Source>HGNC</Source>
+                <Reference>17129</Reference>
+              </ExternalReference>
+              <ExternalReference id="26648">
+                <Source>OMIM</Source>
+                <Reference>607059</Reference>
+              </ExternalReference>
+              <ExternalReference id="57983">
+                <Source>Reactome</Source>
+                <Reference>Q6P5W5</Reference>
+              </ExternalReference>
+              <ExternalReference id="32434">
+                <Source>SwissProt</Source>
+                <Reference>Q6P5W5</Reference>
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+              <ExternalReference id="193674">
+                <Source>IUPHAR</Source>
+                <Reference>1183</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66757">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1269">
+      <OrphaCode>950</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=950</ExpertLink>
+      <Name lang="en">Acrodysostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21651393[PMID]_22464250[PMID]_22464252[PMID]</SourceOfValidation>
+          <Gene id="15139">
+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit alpha</Name>
+            <Symbol>PRKAR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNC1</Synonym>
+              <Synonym lang="en">Carney complex type 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58248">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108946</Reference>
+              </ExternalReference>
+              <ExternalReference id="25095">
+                <Source>Genatlas</Source>
+                <Reference>PRKAR1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25097">
+                <Source>HGNC</Source>
+                <Reference>9388</Reference>
+              </ExternalReference>
+              <ExternalReference id="82746">
+                <Source>IUPHAR</Source>
+                <Reference>1472</Reference>
+              </ExternalReference>
+              <ExternalReference id="25096">
+                <Source>OMIM</Source>
+                <Reference>188830</Reference>
+              </ExternalReference>
+              <ExternalReference id="58249">
+                <Source>Reactome</Source>
+                <Reference>P10644</Reference>
+              </ExternalReference>
+              <ExternalReference id="33250">
+                <Source>SwissProt</Source>
+                <Reference>P10644</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q24.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22464250[PMID]_22464252[PMID]</SourceOfValidation>
+          <Gene id="21092">
+            <Name lang="en">phosphodiesterase 4D</Name>
+            <Symbol>PDE4D</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
+              <Synonym lang="en">cAMP-specific 3',5'-cyclic phosphodiesterase 4D</Synonym>
+              <Synonym lang="en">phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190559">
+                <Source>IUPHAR</Source>
+                <Reference>1303</Reference>
+              </ExternalReference>
+              <ExternalReference id="83360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113448</Reference>
+              </ExternalReference>
+              <ExternalReference id="61868">
+                <Source>Genatlas</Source>
+                <Reference>PDE4D</Reference>
+              </ExternalReference>
+              <ExternalReference id="61866">
+                <Source>HGNC</Source>
+                <Reference>8783</Reference>
+              </ExternalReference>
+              <ExternalReference id="61867">
+                <Source>OMIM</Source>
+                <Reference>600129</Reference>
+              </ExternalReference>
+              <ExternalReference id="83359">
+                <Source>Reactome</Source>
+                <Reference>Q08499</Reference>
+              </ExternalReference>
+              <ExternalReference id="61869">
+                <Source>SwissProt</Source>
+                <Reference>Q08499</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60527">
+                <GeneLocus>5q11.2-q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1276">
+      <OrphaCode>955</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=955</ExpertLink>
+      <Name lang="en">Hajdu-Cheney syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21378985[PMID]</SourceOfValidation>
+          <Gene id="16558">
+            <Name lang="en">notch receptor 2</Name>
+            <Symbol>NOTCH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57984">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134250</Reference>
+              </ExternalReference>
+              <ExternalReference id="31859">
+                <Source>Genatlas</Source>
+                <Reference>NOTCH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31861">
+                <Source>HGNC</Source>
+                <Reference>7882</Reference>
+              </ExternalReference>
+              <ExternalReference id="31860">
+                <Source>OMIM</Source>
+                <Reference>600275</Reference>
+              </ExternalReference>
+              <ExternalReference id="57985">
+                <Source>Reactome</Source>
+                <Reference>Q04721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33623">
+                <Source>SwissProt</Source>
+                <Reference>Q04721</Reference>
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+              <ExternalReference id="190375">
+                <Source>IUPHAR</Source>
+                <Reference>2859</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1p12</GeneLocus>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1272">
+      <OrphaCode>952</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=952</ExpertLink>
+      <Name lang="en">Acrofacial dysostosis, Weyers type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10700184[PMID]</SourceOfValidation>
+          <Gene id="16001">
+            <Name lang="en">EvC ciliary complex subunit 1</Name>
+            <Symbol>EVC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DWF-1</Synonym>
+              <Synonym lang="en">EVC1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072840</Reference>
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+              <ExternalReference id="29214">
+                <Source>Genatlas</Source>
+                <Reference>EVC</Reference>
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+              <ExternalReference id="29212">
+                <Source>HGNC</Source>
+                <Reference>3497</Reference>
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+              <ExternalReference id="29211">
+                <Source>OMIM</Source>
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+              <ExternalReference id="97216">
+                <Source>Reactome</Source>
+                <Reference>P57679</Reference>
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+              <ExternalReference id="33015">
+                <Source>SwissProt</Source>
+                <Reference>P57679</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23220543[PMID]_22791528[PMID]_16404586[PMID]</SourceOfValidation>
+          <Gene id="16002">
+            <Name lang="en">EvC ciliary complex subunit 2</Name>
+            <Symbol>EVC2</Symbol>
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+              <Synonym lang="en">LBN</Synonym>
+              <Synonym lang="en">limbin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173040</Reference>
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+              <ExternalReference id="36783">
+                <Source>Genatlas</Source>
+                <Reference>EVC2</Reference>
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+              <ExternalReference id="29217">
+                <Source>HGNC</Source>
+                <Reference>19747</Reference>
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+              <ExternalReference id="29216">
+                <Source>OMIM</Source>
+                <Reference>607261</Reference>
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+              <ExternalReference id="97217">
+                <Source>Reactome</Source>
+                <Reference>Q86UK5</Reference>
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+              <ExternalReference id="33016">
+                <Source>SwissProt</Source>
+                <Reference>Q86UK5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">17p11.2 microduplication syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20188345[PMID]</SourceOfValidation>
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+            <Name lang="en">retinoic acid induced 1</Name>
+            <Symbol>RAI1</Symbol>
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+              <Synonym lang="en">DKFZP434A139</Synonym>
+              <Synonym lang="en">KIAA1820</Synonym>
+              <Synonym lang="en">MGC12824</Synonym>
+              <Synonym lang="en">SMS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108557</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RAI1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9834</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607642</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z5J4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z5J4</Reference>
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+      <Name lang="en">Proximal Xq28 duplication syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">methyl-CpG binding protein 2</Name>
+            <Symbol>MECP2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>300005</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51608</Reference>
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+              <ExternalReference id="56763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169057</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MECP2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51608</Reference>
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+      <Name lang="en">TRIM32-related limb-girdle muscular dystrophy R8</Name>
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+            <Name lang="en">tripartite motif containing 32</Name>
+            <Symbol>TRIM32</Symbol>
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+              <Synonym lang="en">HT2A</Synonym>
+              <Synonym lang="en">TATIP</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000119401</Reference>
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+                <Reference>16380</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13049</Reference>
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+                <Reference>Q13049</Reference>
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+      <Name lang="en">Amelocerebrohypohidrotic syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 13 member 5</Name>
+            <Symbol>SLC13A5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">INDY</Synonym>
+              <Synonym lang="en">NACT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q86YT5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141485</Reference>
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+              <ExternalReference id="94921">
+                <Source>Genatlas</Source>
+                <Reference>SLC13A5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23089</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608305</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86YT5</Reference>
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+                <Reference>981</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22424600[PMID]</SourceOfValidation>
+          <Gene id="21090">
+            <Name lang="en">rogdi atypical leucine zipper</Name>
+            <Symbol>ROGDI</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ22386</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83356">
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+                <Reference>ENSG00000067836</Reference>
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+              <ExternalReference id="61854">
+                <Source>Genatlas</Source>
+                <Reference>ROGDI</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29478</Reference>
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+              <ExternalReference id="61853">
+                <Source>OMIM</Source>
+                <Reference>614574</Reference>
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+              <ExternalReference id="61855">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZN7</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1209">
+      <OrphaCode>2604</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2604</ExpertLink>
+      <Name lang="en">Familial visceral myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22960657[PMID]</SourceOfValidation>
+          <Gene id="21732">
+            <Name lang="en">actin gamma 2, smooth muscle</Name>
+            <Symbol>ACTG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ACTSG</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163017</Reference>
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+              <ExternalReference id="76096">
+                <Source>Genatlas</Source>
+                <Reference>ACTG2</Reference>
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+              <ExternalReference id="76094">
+                <Source>HGNC</Source>
+                <Reference>145</Reference>
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+              <ExternalReference id="76095">
+                <Source>OMIM</Source>
+                <Reference>102545</Reference>
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+              <ExternalReference id="83611">
+                <Source>Reactome</Source>
+                <Reference>P63267</Reference>
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+              <ExternalReference id="76097">
+                <Source>SwissProt</Source>
+                <Reference>P63267</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1215">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=156</ExpertLink>
+      <Name lang="en">Carnitine palmitoyl transferase 1A deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301700[PMID]</SourceOfValidation>
+          <Gene id="15795">
+            <Name lang="en">carnitine palmitoyltransferase 1A</Name>
+            <Symbol>CPT1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CPT1-L</Synonym>
+              <Synonym lang="en">L-CPT1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110090</Reference>
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+              <ExternalReference id="28228">
+                <Source>Genatlas</Source>
+                <Reference>CPT1A</Reference>
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+              <ExternalReference id="28226">
+                <Source>HGNC</Source>
+                <Reference>2328</Reference>
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+              <ExternalReference id="28225">
+                <Source>OMIM</Source>
+                <Reference>600528</Reference>
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+              <ExternalReference id="57972">
+                <Source>Reactome</Source>
+                <Reference>P50416</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50416</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1213">
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+      <Name lang="en">Mitochondrial myopathy and sideroblastic anemia</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>21686963[PMID]</SourceOfValidation>
+          <Gene id="15173">
+            <Name lang="en">pseudouridine synthase 1</Name>
+            <Symbol>PUS1</Symbol>
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+              <Synonym lang="en">tRNA pseudouridine(38-40) synthase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142937">
+                <Source>Reactome</Source>
+                <Reference>Q9Y606</Reference>
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+              <ExternalReference id="57968">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177192</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PUS1</Reference>
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+              <ExternalReference id="25258">
+                <Source>HGNC</Source>
+                <Reference>15508</Reference>
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+              <ExternalReference id="25257">
+                <Source>OMIM</Source>
+                <Reference>608109</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y606</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID]</SourceOfValidation>
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+            <Name lang="en">tyrosyl-tRNA synthetase 2</Name>
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+              <Synonym lang="en">mt-TyrRS</Synonym>
+              <Synonym lang="en">tyrosine tRNA ligase 2, mitochondrial</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139131</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2Z4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Ankyloblepharon filiforme adnatum-cleft palate syndrome</Name>
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+              <Synonym lang="en">p53CP</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Vein of Galen aneurysmal malformation</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196411</Reference>
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+            <Name lang="en">thyroid hormone receptor interactor 13</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">BUB1 mitotic checkpoint serine/threonine kinase B</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">BUB1 mitotic checkpoint serine/threonine kinase</Name>
+            <Symbol>BUB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BUB1A</Synonym>
+              <Synonym lang="en">hBUB1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="84031">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169679</Reference>
+              </ExternalReference>
+              <ExternalReference id="82062">
+                <Source>Genatlas</Source>
+                <Reference>BUB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="82060">
+                <Source>HGNC</Source>
+                <Reference>1148</Reference>
+              </ExternalReference>
+              <ExternalReference id="84032">
+                <Source>IUPHAR</Source>
+                <Reference>1949</Reference>
+              </ExternalReference>
+              <ExternalReference id="82061">
+                <Source>OMIM</Source>
+                <Reference>602452</Reference>
+              </ExternalReference>
+              <ExternalReference id="84030">
+                <Source>Reactome</Source>
+                <Reference>O43683</Reference>
+              </ExternalReference>
+              <ExternalReference id="82063">
+                <Source>SwissProt</Source>
+                <Reference>O43683</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12845">
+                <GeneLocus>2q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23747338[PMID]</SourceOfValidation>
+          <Gene id="22412">
+            <Name lang="en">BUB3 mitotic checkpoint protein</Name>
+            <Symbol>BUB3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BUB3L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82068">
+                <Source>SwissProt</Source>
+                <Reference>O43684</Reference>
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+              <ExternalReference id="84034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154473</Reference>
+              </ExternalReference>
+              <ExternalReference id="82067">
+                <Source>Genatlas</Source>
+                <Reference>BUB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="82065">
+                <Source>HGNC</Source>
+                <Reference>1151</Reference>
+              </ExternalReference>
+              <ExternalReference id="82066">
+                <Source>OMIM</Source>
+                <Reference>603719</Reference>
+              </ExternalReference>
+              <ExternalReference id="84033">
+                <Source>Reactome</Source>
+                <Reference>O43684</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26241">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1346">
+      <OrphaCode>1040</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1040</ExpertLink>
+      <Name lang="en">Metaphyseal anadysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19615667[PMID]_24781753[PMID]</SourceOfValidation>
+          <Gene id="16452">
+            <Name lang="en">matrix metallopeptidase 13</Name>
+            <Symbol>MMP13</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLG3</Synonym>
+              <Synonym lang="en">collagenase 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58018">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137745</Reference>
+              </ExternalReference>
+              <ExternalReference id="31366">
+                <Source>Genatlas</Source>
+                <Reference>MMP13</Reference>
+              </ExternalReference>
+              <ExternalReference id="31364">
+                <Source>HGNC</Source>
+                <Reference>7159</Reference>
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+              <ExternalReference id="82999">
+                <Source>IUPHAR</Source>
+                <Reference>1637</Reference>
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+              <ExternalReference id="31363">
+                <Source>OMIM</Source>
+                <Reference>600108</Reference>
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+              <ExternalReference id="58019">
+                <Source>Reactome</Source>
+                <Reference>P45452</Reference>
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+              <ExternalReference id="33515">
+                <Source>SwissProt</Source>
+                <Reference>P45452</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19615667[PMID]_24781753[PMID]</SourceOfValidation>
+          <Gene id="16452">
+            <Name lang="en">matrix metallopeptidase 13</Name>
+            <Symbol>MMP13</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLG3</Synonym>
+              <Synonym lang="en">collagenase 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58018">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137745</Reference>
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+              <ExternalReference id="31366">
+                <Source>Genatlas</Source>
+                <Reference>MMP13</Reference>
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+              <ExternalReference id="31364">
+                <Source>HGNC</Source>
+                <Reference>7159</Reference>
+              </ExternalReference>
+              <ExternalReference id="82999">
+                <Source>IUPHAR</Source>
+                <Reference>1637</Reference>
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+              <ExternalReference id="31363">
+                <Source>OMIM</Source>
+                <Reference>600108</Reference>
+              </ExternalReference>
+              <ExternalReference id="58019">
+                <Source>Reactome</Source>
+                <Reference>P45452</Reference>
+              </ExternalReference>
+              <ExternalReference id="33515">
+                <Source>SwissProt</Source>
+                <Reference>P45452</Reference>
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+            <LocusList count="1">
+              <Locus id="21363">
+                <GeneLocus>11q22.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19615667[PMID]</SourceOfValidation>
+          <Gene id="18601">
+            <Name lang="en">matrix metallopeptidase 9</Name>
+            <Symbol>MMP9</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100985</Reference>
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+              <ExternalReference id="42974">
+                <Source>Genatlas</Source>
+                <Reference>MMP9</Reference>
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+              <ExternalReference id="42975">
+                <Source>HGNC</Source>
+                <Reference>7176</Reference>
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+              <ExternalReference id="83150">
+                <Source>IUPHAR</Source>
+                <Reference>1633</Reference>
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+              <ExternalReference id="42976">
+                <Source>OMIM</Source>
+                <Reference>120361</Reference>
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+              <ExternalReference id="58021">
+                <Source>Reactome</Source>
+                <Reference>P14780</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P14780</Reference>
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+              <Locus id="14917">
+                <GeneLocus>20q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1388">
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+      <Name lang="en">Microphthalmia with limb anomalies</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="19823">
+            <Name lang="en">SPARC related modular calcium binding 1</Name>
+            <Symbol>SMOC1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>20318</Reference>
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+              <ExternalReference id="50640">
+                <Source>OMIM</Source>
+                <Reference>608488</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H4F8</Reference>
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+              <ExternalReference id="143800">
+                <Source>Reactome</Source>
+                <Reference>Q9H4F8</Reference>
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+              <ExternalReference id="58029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198732</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1305">
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+      <Name lang="en">Agnathia-holoprosencephaly-situs inversus syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">orthodenticle homeobox 2</Name>
+            <Symbol>OTX2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165588</Reference>
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+            <Name lang="en">paired related homeobox 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Fetal akinesia deformation sequence</Name>
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+            <Name lang="en">solute carrier family 18 member A3</Name>
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+              <Synonym lang="en">VACHT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q16572</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187714</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25612909[PMID]_25537362[PMID]</SourceOfValidation>
+          <Gene id="17474">
+            <Name lang="en">muscle associated receptor tyrosine kinase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">tubulin alpha 1a</Name>
+            <Symbol>TUBA1A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=51</ExpertLink>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="91577">
+                <Source>Reactome</Source>
+                <Reference>Q9BYX4</Reference>
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+              <ExternalReference id="89923">
+                <Source>SwissProt</Source>
+                <Reference>Q9BYX4</Reference>
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+            <LocusList count="1">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=978</ExpertLink>
+      <Name lang="en">ADULT syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17041931[PMID]</SourceOfValidation>
+          <Gene id="15645">
+            <Name lang="en">tumor protein p63</Name>
+            <Symbol>TP63</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">EEC3</Synonym>
+              <Synonym lang="en">KET</Synonym>
+              <Synonym lang="en">NBP</Synonym>
+              <Synonym lang="en">OFC8</Synonym>
+              <Synonym lang="en">SHFM4</Synonym>
+              <Synonym lang="en">p51</Synonym>
+              <Synonym lang="en">p53CP</Synonym>
+              <Synonym lang="en">p63</Synonym>
+              <Synonym lang="en">p73H</Synonym>
+              <Synonym lang="en">p73L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57145">
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+                <Reference>ENSG00000073282</Reference>
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+              <ExternalReference id="36602">
+                <Source>Genatlas</Source>
+                <Reference>TP63</Reference>
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+              <ExternalReference id="37604">
+                <Source>HGNC</Source>
+                <Reference>15979</Reference>
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+              <ExternalReference id="27521">
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+                <Reference>603273</Reference>
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+              <ExternalReference id="97191">
+                <Source>Reactome</Source>
+                <Reference>Q9H3D4</Reference>
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+                <Reference>Q9H3D4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
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+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+                <Reference>SHH</Reference>
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+              <ExternalReference id="25809">
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+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
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+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19847792[PMID]</SourceOfValidation>
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+              <Synonym lang="en">FLJ11665</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105983</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WVP7</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150990</Reference>
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+                <Source>Reactome</Source>
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+                <Source>OMIM</Source>
+                <Reference>134797</Reference>
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+              <ExternalReference id="57334">
+                <Source>Reactome</Source>
+                <Reference>P35555</Reference>
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+              <ExternalReference id="33046">
+                <Source>SwissProt</Source>
+                <Reference>P35555</Reference>
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+            <LocusList count="1">
+              <Locus id="8511">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27068007[PMID]</SourceOfValidation>
+          <Gene id="18363">
+            <Name lang="en">latent transforming growth factor beta binding protein 3</Name>
+            <Symbol>LTBP3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59917">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168056</Reference>
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+              <ExternalReference id="41769">
+                <Source>Genatlas</Source>
+                <Reference>LTBP3</Reference>
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+              <ExternalReference id="41770">
+                <Source>HGNC</Source>
+                <Reference>6716</Reference>
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+              <ExternalReference id="41771">
+                <Source>OMIM</Source>
+                <Reference>602090</Reference>
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+              <ExternalReference id="83136">
+                <Source>Reactome</Source>
+                <Reference>Q9NS15</Reference>
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+              <ExternalReference id="41772">
+                <Source>SwissProt</Source>
+                <Reference>Q9NS15</Reference>
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+                <GeneLocus>11q13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1294">
+      <OrphaCode>974</OrphaCode>
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+      <Name lang="en">Adams-Oliver syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25132448[PMID]</SourceOfValidation>
+          <Gene id="16434">
+            <Name lang="en">notch receptor 1</Name>
+            <Symbol>NOTCH1</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58376">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148400</Reference>
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+              <ExternalReference id="37276">
+                <Source>Genatlas</Source>
+                <Reference>NOTCH1</Reference>
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+              <ExternalReference id="31276">
+                <Source>HGNC</Source>
+                <Reference>7881</Reference>
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+              <ExternalReference id="31275">
+                <Source>OMIM</Source>
+                <Reference>190198</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P46531</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P46531</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21565291[PMID]</SourceOfValidation>
+          <Gene id="20151">
+            <Name lang="en">Rho GTPase activating protein 31</Name>
+            <Symbol>ARHGAP31</Symbol>
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+              <Synonym lang="en">CDGAP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000031081</Reference>
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+              <ExternalReference id="51619">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q2M1Z3</Reference>
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+                <Reference>Q2M1Z3</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21820096[PMID]</SourceOfValidation>
+          <Gene id="20395">
+            <Name lang="en">dedicator of cytokinesis 6</Name>
+            <Symbol>DOCK6</Symbol>
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+              <Synonym lang="en">KIAA1395</Synonym>
+              <Synonym lang="en">ZIR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000130158</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96HP0</Reference>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">EGF domain specific O-linked N-acetylglucosamine transferase</Name>
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+            <Name lang="en">delta like canonical Notch ligand 4</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">spalt like transcription factor 4</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Enamel-renal syndrome</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000108950</Reference>
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+              <ExternalReference id="51980">
+                <Source>Genatlas</Source>
+                <Reference>FAM20A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23015</Reference>
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+                <Reference>611062</Reference>
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+              <ExternalReference id="51981">
+                <Source>SwissProt</Source>
+                <Reference>Q96MK3</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96MK3</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64</ExpertLink>
+      <Name lang="en">Alström syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15501">
+            <Name lang="en">ALMS1 centrosome and basal body associated protein</Name>
+            <Symbol>ALMS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0328</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58011">
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+                <Reference>ENSG00000116127</Reference>
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+              <ExternalReference id="26835">
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+                <Reference>ALMS1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>428</Reference>
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+              <ExternalReference id="58012">
+                <Source>Reactome</Source>
+                <Reference>Q8TCU4</Reference>
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+              <ExternalReference id="32472">
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+                <Reference>Q8TCU4</Reference>
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+      <Name lang="en">X-linked cerebral adrenoleukodystrophy</Name>
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+            <Name lang="en">ATP binding cassette subfamily D member 1</Name>
+            <Symbol>ABCD1</Symbol>
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+              <Synonym lang="en">AMN</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101986</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ABCD1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60071">
+                <Source>Reactome</Source>
+                <Reference>P33897</Reference>
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+                <Reference>P33897</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Adrenomyeloneuropathy</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60070">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101986</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="60071">
+                <Source>Reactome</Source>
+                <Reference>P33897</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">prosaposin</Name>
+            <Symbol>PSAP</Symbol>
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+                <Reference>ENSG00000197746</Reference>
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+              <Synonym lang="en">KIAA1823</Synonym>
+              <Synonym lang="en">MGC14797</Synonym>
+              <Synonym lang="en">centromere protein 31</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156531</Reference>
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+              <ExternalReference id="24637">
+                <Source>Genatlas</Source>
+                <Reference>PHF6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18145</Reference>
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+              <ExternalReference id="24825">
+                <Source>OMIM</Source>
+                <Reference>300414</Reference>
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+              <ExternalReference id="32774">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWS0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="69359">
+                <GeneLocus>Xq26.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1501">
+      <OrphaCode>1263</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1263</ExpertLink>
+      <Name lang="en">Boomerang dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301736[PMID]_15994868[PMID]</SourceOfValidation>
+          <Gene id="16059">
+            <Name lang="en">filamin B</Name>
+            <Symbol>FLNB</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABP-278</Synonym>
+              <Synonym lang="en">FH1</Synonym>
+              <Synonym lang="en">TABP</Synonym>
+              <Synonym lang="en">TAP</Synonym>
+              <Synonym lang="en">actin binding protein 278</Synonym>
+              <Synonym lang="en">beta filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136068</Reference>
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+              <ExternalReference id="29509">
+                <Source>Genatlas</Source>
+                <Reference>FLNB</Reference>
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+                <Reference>603381</Reference>
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+                <Reference>O75369</Reference>
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+      <Name lang="en">Bartsocas-Papas syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22197488[PMID]_22197489[PMID]</SourceOfValidation>
+          <Gene id="20791">
+            <Name lang="en">receptor interacting serine/threonine kinase 4</Name>
+            <Symbol>RIPK4</Symbol>
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+              <Synonym lang="en">DIK</Synonym>
+              <Synonym lang="en">PKC-delta-interacting protein kinase</Synonym>
+              <Synonym lang="en">PKK</Synonym>
+              <Synonym lang="en">Protein kinase C-associated kinase</Synonym>
+              <Synonym lang="en">RIP4</Synonym>
+              <Synonym lang="en">protein kinase C-associated kinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143936">
+                <Source>Reactome</Source>
+                <Reference>P57078</Reference>
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+              <ExternalReference id="60687">
+                <Source>SwissProt</Source>
+                <Reference>P57078</Reference>
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+              <ExternalReference id="60688">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183421</Reference>
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+              <ExternalReference id="60686">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>496</Reference>
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+                <Reference>2192</Reference>
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+                <Reference>605706</Reference>
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+      <Name lang="en">Barber-Say syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">twist family bHLH transcription factor 2</Name>
+            <Symbol>TWIST2</Symbol>
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+              <Synonym lang="en">DERMO1</Synonym>
+              <Synonym lang="en">Dermo-1</Synonym>
+              <Synonym lang="en">bHLHa39</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000233608</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WVJ9</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20670</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607556</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WVJ9</Reference>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">OB</Synonym>
+              <Synonym lang="en">OB-Cadherin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140937</Reference>
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+                <Reference>600023</Reference>
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+                <Reference>CDH11</Reference>
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+                <Reference>P55287</Reference>
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+      <Name lang="en">Autosomal dominant popliteal pterygium syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301581[PMID]</SourceOfValidation>
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+            <Name lang="en">interferon regulatory factor 6</Name>
+            <Symbol>IRF6</Symbol>
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+              <Synonym lang="en">OFC6</Synonym>
+              <Synonym lang="en">VWS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O14896</Reference>
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+      <Name lang="en">Capillary malformation-arteriovenous malformation</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>RASA1</Symbol>
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+              <Synonym lang="en">CM-AVM</Synonym>
+              <Synonym lang="en">GAP</Synonym>
+              <Synonym lang="en">capillary malformation-arteriovenous malformation</Synonym>
+              <Synonym lang="en">p120</Synonym>
+              <Synonym lang="en">p120 RAS GTPase activating protein</Synonym>
+              <Synonym lang="en">p120GAP</Synonym>
+              <Synonym lang="en">p120RASGAP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000145715</Reference>
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+            <Name lang="en">EPH receptor B4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000196411</Reference>
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+                <Source>IUPHAR</Source>
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+                <Reference>3395</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Bowen-Conradi syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19463982[PMID]</SourceOfValidation>
+          <Gene id="18466">
+            <Name lang="en">EMG1 N1-specific pseudouridine methyltransferase</Name>
+            <Symbol>EMG1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C2F</Synonym>
+              <Synonym lang="en">Grcc2f</Synonym>
+              <Synonym lang="en">NEP1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100324">
+                <Source>Reactome</Source>
+                <Reference>Q92979</Reference>
+              </ExternalReference>
+              <ExternalReference id="189369">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126749</Reference>
+              </ExternalReference>
+              <ExternalReference id="42423">
+                <Source>Genatlas</Source>
+                <Reference>EMG1</Reference>
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+              <ExternalReference id="42424">
+                <Source>HGNC</Source>
+                <Reference>16912</Reference>
+              </ExternalReference>
+              <ExternalReference id="42425">
+                <Source>OMIM</Source>
+                <Reference>611531</Reference>
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+              <ExternalReference id="42426">
+                <Source>SwissProt</Source>
+                <Reference>Q92979</Reference>
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+            <LocusList count="1">
+              <Locus id="58553">
+                <GeneLocus>12p13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16684">
+      <OrphaCode>137605</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=137605</ExpertLink>
+      <Name lang="en">Legius syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20945555[PMID]</SourceOfValidation>
+          <Gene id="17316">
+            <Name lang="en">sprouty related EVH1 domain containing 1</Name>
+            <Symbol>SPRED1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ33903</Synonym>
+              <Synonym lang="en">PPP1R147</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 147</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60048">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166068</Reference>
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+              <ExternalReference id="36790">
+                <Source>Genatlas</Source>
+                <Reference>SPRED1</Reference>
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+              <ExternalReference id="36792">
+                <Source>HGNC</Source>
+                <Reference>20249</Reference>
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+              <ExternalReference id="36791">
+                <Source>OMIM</Source>
+                <Reference>609291</Reference>
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+              <ExternalReference id="97257">
+                <Source>Reactome</Source>
+                <Reference>Q7Z699</Reference>
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+              <ExternalReference id="36793">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z699</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1427">
+      <OrphaCode>1168</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1168</ExpertLink>
+      <Name lang="en">Ataxia-oculomotor apraxia type 1</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301629[PMID]</SourceOfValidation>
+          <Gene id="15944">
+            <Name lang="en">aprataxin</Name>
+            <Symbol>APTX</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AOA</Synonym>
+              <Synonym lang="en">AOA1</Synonym>
+              <Synonym lang="en">EAOH</Synonym>
+              <Synonym lang="en">EOAHA</Synonym>
+              <Synonym lang="en">FLJ20157</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142989">
+                <Source>Reactome</Source>
+                <Reference>Q7Z2E3</Reference>
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+              <ExternalReference id="58033">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137074</Reference>
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+              <ExternalReference id="28919">
+                <Source>Genatlas</Source>
+                <Reference>APTX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15984</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606350</Reference>
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+              <ExternalReference id="32955">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z2E3</Reference>
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+                <GeneLocus>9p21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Frank-Ter Haar syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20137777[PMID]</SourceOfValidation>
+          <Gene id="18992">
+            <Name lang="en">SH3 and PX domains 2B</Name>
+            <Symbol>SH3PXD2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20831</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60062">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174705</Reference>
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+              <ExternalReference id="44557">
+                <Source>Genatlas</Source>
+                <Reference>SH3PXD2B</Reference>
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+              <ExternalReference id="44558">
+                <Source>HGNC</Source>
+                <Reference>29242</Reference>
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+              <ExternalReference id="44559">
+                <Source>OMIM</Source>
+                <Reference>613293</Reference>
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+              <ExternalReference id="44560">
+                <Source>SwissProt</Source>
+                <Reference>A1X283</Reference>
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+                <GeneLocus>5q35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="16724">
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+      <Name lang="en">X-linked intellectual disability-cerebellar hypoplasia syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20528889[PMID]</SourceOfValidation>
+          <Gene id="17420">
+            <Name lang="en">oligophrenin 1</Name>
+            <Symbol>OPHN1</Symbol>
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+              <Synonym lang="en">ARHGAP41</Synonym>
+              <Synonym lang="en">OPN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60060">
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+                <Reference>ENSG00000079482</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal recessive cerebelloparenchymal disorder type 3</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165688</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q10713</Reference>
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+      <Name lang="en">X-linked progressive cerebellar ataxia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">gap junction protein beta 1</Name>
+            <Symbol>GJB1</Symbol>
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+              <Synonym lang="en">Charcot-Marie-Tooth neuropathy, X-linked</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193589">
+                <Source>IUPHAR</Source>
+                <Reference>723</Reference>
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+              <ExternalReference id="60022">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169562</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Ataxia-hypogonadism-choroidal dystrophy syndrome</Name>
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+            <Name lang="en">patatin like phospholipase domain containing 6</Name>
+            <Symbol>PNPLA6</Symbol>
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+              <Synonym lang="en">SPG39</Synonym>
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+              <Synonym lang="en">neuropathy target esterase</Synonym>
+              <Synonym lang="en">sws</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100313">
+                <Source>Reactome</Source>
+                <Reference>Q8IY17</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PNPLA6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16268</Reference>
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+                <Reference>603197</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IY17</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Cerebellar ataxia-hypogonadism syndrome</Name>
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+            <Name lang="en">patatin like phospholipase domain containing 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>PNPLA6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16268</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603197</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IY17</Reference>
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+                <Source>Ensembl</Source>
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+            <Symbol>RNF216</Symbol>
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+              <Synonym lang="en">UBCE7IP1</Synonym>
+              <Synonym lang="en">ZIN</Synonym>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011275</Reference>
+              </ExternalReference>
+              <ExternalReference id="80120">
+                <Source>Genatlas</Source>
+                <Reference>RNF216</Reference>
+              </ExternalReference>
+              <ExternalReference id="80118">
+                <Source>HGNC</Source>
+                <Reference>21698</Reference>
+              </ExternalReference>
+              <ExternalReference id="80119">
+                <Source>OMIM</Source>
+                <Reference>609948</Reference>
+              </ExternalReference>
+              <ExternalReference id="97350">
+                <Source>Reactome</Source>
+                <Reference>Q9NWF9</Reference>
+              </ExternalReference>
+              <ExternalReference id="80121">
+                <Source>SwissProt</Source>
+                <Reference>Q9NWF9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16947">
+                <GeneLocus>7p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="16706">
+      <OrphaCode>137681</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=137681</ExpertLink>
+      <Name lang="en">Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23430926[PMID]</SourceOfValidation>
+          <Gene id="17666">
+            <Name lang="en">G elongation factor mitochondrial 1</Name>
+            <Symbol>GFM1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EFGM</Synonym>
+              <Synonym lang="en">EGF1</Synonym>
+              <Synonym lang="en">GFM</Synonym>
+              <Synonym lang="en">mtEF-G1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60051">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168827</Reference>
+              </ExternalReference>
+              <ExternalReference id="38817">
+                <Source>Genatlas</Source>
+                <Reference>GFM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="38818">
+                <Source>HGNC</Source>
+                <Reference>13780</Reference>
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+              <ExternalReference id="38819">
+                <Source>OMIM</Source>
+                <Reference>606639</Reference>
+              </ExternalReference>
+              <ExternalReference id="97267">
+                <Source>Reactome</Source>
+                <Reference>Q96RP9</Reference>
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+              <ExternalReference id="38820">
+                <Source>SwissProt</Source>
+                <Reference>Q96RP9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q25.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="16704">
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+      <Name lang="en">Histiocytoid cardiomyopathy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10960495[PMID]</SourceOfValidation>
+          <Gene id="16474">
+            <Name lang="en">mitochondrially encoded cytochrome b</Name>
+            <Symbol>MT-CYB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COB</Synonym>
+              <Synonym lang="en">CYTB</Synonym>
+              <Synonym lang="en">UQCR3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="56916">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198727</Reference>
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+              <ExternalReference id="37256">
+                <Source>Genatlas</Source>
+                <Reference>MT-CYB</Reference>
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+              <ExternalReference id="31470">
+                <Source>HGNC</Source>
+                <Reference>7427</Reference>
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+              <ExternalReference id="31469">
+                <Source>OMIM</Source>
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+              <ExternalReference id="56917">
+                <Source>Reactome</Source>
+                <Reference>P00156</Reference>
+              </ExternalReference>
+              <ExternalReference id="33539">
+                <Source>SwissProt</Source>
+                <Reference>P00156</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Spondyloepiphyseal dysplasia with metatarsal shortening</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
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+              <Synonym lang="en">STL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
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+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
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+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16711">
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+      <Name lang="en">Neurological conditions associated with aminoacylase 1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q03154</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Infantile-onset X-linked spinal muscular atrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ubiquitin like modifier activating enzyme 1</Name>
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+              <Synonym lang="en">POC20 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">UBA1, ubiquitin-activating enzyme E1 homolog (yeast)</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141756</Reference>
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+      <Name lang="en">Lethal congenital contracture syndrome type 3</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">phosphatidylinositol-4-phosphate 5-kinase type 1 gamma</Name>
+            <Symbol>PIP5K1C</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0589</Synonym>
+              <Synonym lang="en">LCCS3</Synonym>
+              <Synonym lang="en">PIP5Kgamma</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186111</Reference>
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+                <Reference>PIP5K1C</Reference>
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+                <Reference>8996</Reference>
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+                <Reference>2165</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60331</Reference>
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+              <ExternalReference id="38267">
+                <Source>SwissProt</Source>
+                <Reference>O60331</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10279">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22610851[PMID]</SourceOfValidation>
+          <Gene id="19041">
+            <Name lang="en">myosin binding protein C1</Name>
+            <Symbol>MYBPC1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">slow skeletal-type muscle myosin-binding-protein C</Synonym>
+              <Synonym lang="en">ssMyBP-C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="45291">
+                <Source>SwissProt</Source>
+                <Reference>Q00872</Reference>
+              </ExternalReference>
+              <ExternalReference id="57251">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196091</Reference>
+              </ExternalReference>
+              <ExternalReference id="45288">
+                <Source>Genatlas</Source>
+                <Reference>MYBPC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="45289">
+                <Source>HGNC</Source>
+                <Reference>7549</Reference>
+              </ExternalReference>
+              <ExternalReference id="45290">
+                <Source>OMIM</Source>
+                <Reference>160794</Reference>
+              </ExternalReference>
+              <ExternalReference id="57252">
+                <Source>Reactome</Source>
+                <Reference>Q00872</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11023">
+                <GeneLocus>12q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1461">
+      <OrphaCode>1215</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1215</ExpertLink>
+      <Name lang="en">Autosomal dominant optic atrophy plus syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18158317[PMID]_22776096[PMID]</SourceOfValidation>
+          <Gene id="16590">
+            <Name lang="en">OPA1 mitochondrial dynamin like GTPase</Name>
+            <Symbol>OPA1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">Dynamin-like 120 kDa protein, mitochondrial</Synonym>
+              <Synonym lang="en">FLJ12460</Synonym>
+              <Synonym lang="en">KIAA0567</Synonym>
+              <Synonym lang="en">MGM1</Synonym>
+              <Synonym lang="en">NPG</Synonym>
+              <Synonym lang="en">NTG</Synonym>
+              <Synonym lang="en">dynamin-like guanosine triphosphatase</Synonym>
+              <Synonym lang="en">mitochondrial dynamin-like GTPase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126366">
+                <Source>Reactome</Source>
+                <Reference>O60313</Reference>
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+              <ExternalReference id="58353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198836</Reference>
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+              <ExternalReference id="32016">
+                <Source>Genatlas</Source>
+                <Reference>OPA1</Reference>
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+              <ExternalReference id="32014">
+                <Source>HGNC</Source>
+                <Reference>8140</Reference>
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+              <ExternalReference id="32013">
+                <Source>OMIM</Source>
+                <Reference>605290</Reference>
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+              <ExternalReference id="33655">
+                <Source>SwissProt</Source>
+                <Reference>O60313</Reference>
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+                <GeneLocus>3q29</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1462">
+      <OrphaCode>1216</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1216</ExpertLink>
+      <Name lang="en">Autosomal dominant congenital benign spinal muscular atrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24830047[PMID]_22526352[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
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+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
+                <Reference>TRPV4</Reference>
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+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
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+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
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+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1469">
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+      <Name lang="en">Baller-Gerold syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301383[PMID]_15964893[PMID]</SourceOfValidation>
+          <Gene id="15196">
+            <Name lang="en">RecQ like helicase 4</Name>
+            <Symbol>RECQL4</Symbol>
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+              <Synonym lang="en">RecQ4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="25366">
+                <Source>HGNC</Source>
+                <Reference>9949</Reference>
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+              <ExternalReference id="25365">
+                <Source>OMIM</Source>
+                <Reference>603780</Reference>
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+              <ExternalReference id="33720">
+                <Source>SwissProt</Source>
+                <Reference>O94761</Reference>
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+              <ExternalReference id="58039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160957</Reference>
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+              <ExternalReference id="25368">
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+                <Reference>RECQL4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Bamforth-Lazarus syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>FOXE1</Symbol>
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+              <Synonym lang="en">TTF-2</Synonym>
+              <Synonym lang="en">thyroid transcription factor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178919</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>3806</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O00358</Reference>
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+      <Name lang="en">Auriculocondylar syndrome</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">phospholipase C beta 4</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101333</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">aurora kinase C</Name>
+            <Symbol>AURKC</Symbol>
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+              <Synonym lang="en">ARK3</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105146</Reference>
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+                <Reference>1938</Reference>
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+            <Name lang="en">dynein heavy chain domain 1</Name>
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+                <Reference>ENSG00000179532</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33472045[PMID]</SourceOfValidation>
+          <Gene id="30247">
+            <Name lang="en">cilia and flagella associated protein 47</Name>
+            <Symbol>CFAP47</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ36601</Synonym>
+              <Synonym lang="en">MGC34831</Synonym>
+              <Synonym lang="en">RP13-11B7.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189810">
+                <Source>HGNC</Source>
+                <Reference>26708</Reference>
+              </ExternalReference>
+              <ExternalReference id="192357">
+                <Source>OMIM</Source>
+                <Reference>301057</Reference>
+              </ExternalReference>
+              <ExternalReference id="201210">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZTR5</Reference>
+              </ExternalReference>
+              <ExternalReference id="192356">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165164</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81395">
+                <GeneLocus>Xp21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34237282[PMID]</SourceOfValidation>
+          <Gene id="24488">
+            <Name lang="en">dynein axonemal heavy chain 10</Name>
+            <Symbol>DNAH10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ43808</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="143228">
+                <Source>Genatlas</Source>
+                <Reference>DNAH10</Reference>
+              </ExternalReference>
+              <ExternalReference id="132047">
+                <Source>OMIM</Source>
+                <Reference>605884</Reference>
+              </ExternalReference>
+              <ExternalReference id="132763">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="134004">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197653</Reference>
+              </ExternalReference>
+              <ExternalReference id="131305">
+                <Source>HGNC</Source>
+                <Reference>2941</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38171">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1443">
+      <OrphaCode>1186</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1186</ExpertLink>
+      <Name lang="en">Infantile-onset spinocerebellar ataxia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301746[PMID]</SourceOfValidation>
+          <Gene id="17411">
+            <Name lang="en">twinkle mtDNA helicase</Name>
+            <Symbol>TWNK</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FLJ21832</Synonym>
+              <Synonym lang="en">PEO</Synonym>
+              <Synonym lang="en">PEO1</Synonym>
+              <Synonym lang="en">T7 helicase-related protein with intramitochondrial nucleoid localization</Synonym>
+              <Synonym lang="en">TWINKLE</Synonym>
+              <Synonym lang="en">TWINL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107815</Reference>
+              </ExternalReference>
+              <ExternalReference id="37622">
+                <Source>Genatlas</Source>
+                <Reference>C10orf2</Reference>
+              </ExternalReference>
+              <ExternalReference id="37624">
+                <Source>HGNC</Source>
+                <Reference>1160</Reference>
+              </ExternalReference>
+              <ExternalReference id="37623">
+                <Source>OMIM</Source>
+                <Reference>606075</Reference>
+              </ExternalReference>
+              <ExternalReference id="87982">
+                <Source>Reactome</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37625">
+                <Source>SwissProt</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24221">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="16739">
+      <OrphaCode>137898</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=137898</ExpertLink>
+      <Name lang="en">Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17384640[PMID]</SourceOfValidation>
+          <Gene id="17187">
+            <Name lang="en">aspartyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>DARS2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'aspartate tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">Aspartate tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">FLJ10514</Synonym>
+              <Synonym lang="en">mtAspRS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60065">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117593</Reference>
+              </ExternalReference>
+              <ExternalReference id="36214">
+                <Source>Genatlas</Source>
+                <Reference>DARS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="36217">
+                <Source>HGNC</Source>
+                <Reference>25538</Reference>
+              </ExternalReference>
+              <ExternalReference id="36215">
+                <Source>OMIM</Source>
+                <Reference>610956</Reference>
+              </ExternalReference>
+              <ExternalReference id="60066">
+                <Source>Reactome</Source>
+                <Reference>Q6PI48</Reference>
+              </ExternalReference>
+              <ExternalReference id="36216">
+                <Source>SwissProt</Source>
+                <Reference>Q6PI48</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9885">
+                <GeneLocus>1q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="16740">
+      <OrphaCode>137902</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=137902</ExpertLink>
+      <Name lang="en">Isolated optic nerve hypoplasia/aplasia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12721955[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
+              </ExternalReference>
+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
+              </ExternalReference>
+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1444">
+      <OrphaCode>1187</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1187</ExpertLink>
+      <Name lang="en">Lethal ataxia with deafness and optic atrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301738[PMID]</SourceOfValidation>
+          <Gene id="15153">
+            <Name lang="en">phosphoribosyl pyrophosphate synthetase 1</Name>
+            <Symbol>PRPS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMTX5</Synonym>
+              <Synonym lang="en">DFNX1</Synonym>
+              <Synonym lang="en">PRS I</Synonym>
+              <Synonym lang="en">ribose-phosphate diphosphokinase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147224</Reference>
+              </ExternalReference>
+              <ExternalReference id="25164">
+                <Source>Genatlas</Source>
+                <Reference>PRPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25162">
+                <Source>HGNC</Source>
+                <Reference>9462</Reference>
+              </ExternalReference>
+              <ExternalReference id="25161">
+                <Source>OMIM</Source>
+                <Reference>311850</Reference>
+              </ExternalReference>
+              <ExternalReference id="58036">
+                <Source>Reactome</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
+              <ExternalReference id="33264">
+                <Source>SwissProt</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="6875">
+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1447">
+      <OrphaCode>1190</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1190</ExpertLink>
+      <Name lang="en">Atelosteogenesis type I</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301736[PMID]</SourceOfValidation>
+          <Gene id="16059">
+            <Name lang="en">filamin B</Name>
+            <Symbol>FLNB</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABP-278</Synonym>
+              <Synonym lang="en">FH1</Synonym>
+              <Synonym lang="en">TABP</Synonym>
+              <Synonym lang="en">TAP</Synonym>
+              <Synonym lang="en">actin binding protein 278</Synonym>
+              <Synonym lang="en">beta filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136068</Reference>
+              </ExternalReference>
+              <ExternalReference id="29509">
+                <Source>Genatlas</Source>
+                <Reference>FLNB</Reference>
+              </ExternalReference>
+              <ExternalReference id="29511">
+                <Source>HGNC</Source>
+                <Reference>3755</Reference>
+              </ExternalReference>
+              <ExternalReference id="29510">
+                <Source>OMIM</Source>
+                <Reference>603381</Reference>
+              </ExternalReference>
+              <ExternalReference id="58038">
+                <Source>Reactome</Source>
+                <Reference>O75369</Reference>
+              </ExternalReference>
+              <ExternalReference id="33074">
+                <Source>SwissProt</Source>
+                <Reference>O75369</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8561">
+                <GeneLocus>3p14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="16742">
+      <OrphaCode>137908</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=137908</ExpertLink>
+      <Name lang="en">Hypotonia with lactic acidemia and hyperammonemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17873122[PMID]</SourceOfValidation>
+          <Gene id="16943">
+            <Name lang="en">mitochondrial ribosomal protein S22</Name>
+            <Symbol>MRPS22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C3orf5</Synonym>
+              <Synonym lang="en">GIBT</Synonym>
+              <Synonym lang="en">GK002</Synonym>
+              <Synonym lang="en">MRP-S22</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60067">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175110</Reference>
+              </ExternalReference>
+              <ExternalReference id="35828">
+                <Source>Genatlas</Source>
+                <Reference>MRPS22</Reference>
+              </ExternalReference>
+              <ExternalReference id="35827">
+                <Source>HGNC</Source>
+                <Reference>14508</Reference>
+              </ExternalReference>
+              <ExternalReference id="35826">
+                <Source>OMIM</Source>
+                <Reference>605810</Reference>
+              </ExternalReference>
+              <ExternalReference id="97251">
+                <Source>Reactome</Source>
+                <Reference>P82650</Reference>
+              </ExternalReference>
+              <ExternalReference id="35825">
+                <Source>SwissProt</Source>
+                <Reference>P82650</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16749">
+                <GeneLocus>3q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="1451">
+      <OrphaCode>1200</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1200</ExpertLink>
+      <Name lang="en">Burn-McKeown syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25913037[PMID]</SourceOfValidation>
+          <Gene id="23700">
+            <Name lang="en">RNA polymerase I subunit A</Name>
+            <Symbol>POLR1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DKFZP586M0122</Synonym>
+              <Synonym lang="en">FLJ21915</Synonym>
+              <Synonym lang="en">RPA1</Synonym>
+              <Synonym lang="en">RPA190</Synonym>
+              <Synonym lang="en">RPO1-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100924">
+                <Source>HGNC</Source>
+                <Reference>17264</Reference>
+              </ExternalReference>
+              <ExternalReference id="100927">
+                <Source>SwissProt</Source>
+                <Reference>O95602</Reference>
+              </ExternalReference>
+              <ExternalReference id="100928">
+                <Source>Reactome</Source>
+                <Reference>O95602</Reference>
+              </ExternalReference>
+              <ExternalReference id="100929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068654</Reference>
+              </ExternalReference>
+              <ExternalReference id="100925">
+                <Source>OMIM</Source>
+                <Reference>616404</Reference>
+              </ExternalReference>
+              <ExternalReference id="100926">
+                <Source>Genatlas</Source>
+                <Reference>POLR1A</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19465">
+                <GeneLocus>2p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25434003[PMID]</SourceOfValidation>
+          <Gene id="23092">
+            <Name lang="en">thioredoxin like 4A</Name>
+            <Symbol>TXNL4A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DIB1</Synonym>
+              <Synonym lang="en">DIM1</Synonym>
+              <Synonym lang="en">HsT161</Synonym>
+              <Synonym lang="en">SNRNP15</Synonym>
+              <Synonym lang="en">U5-15kD</Synonym>
+              <Synonym lang="en">similar to S. pombe dim1+</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95046">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141759</Reference>
+              </ExternalReference>
+              <ExternalReference id="95044">
+                <Source>Genatlas</Source>
+                <Reference>TXNL4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="95042">
+                <Source>HGNC</Source>
+                <Reference>30551</Reference>
+              </ExternalReference>
+              <ExternalReference id="95043">
+                <Source>OMIM</Source>
+                <Reference>611595</Reference>
+              </ExternalReference>
+              <ExternalReference id="97013">
+                <Source>Reactome</Source>
+                <Reference>P83876</Reference>
+              </ExternalReference>
+              <ExternalReference id="95045">
+                <Source>SwissProt</Source>
+                <Reference>P83876</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16501">
+                <GeneLocus>18q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17070">
+      <OrphaCode>141258</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=141258</ExpertLink>
+      <Name lang="en">Tessier number 4 facial cleft</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21703590[PMID]</SourceOfValidation>
+          <Gene id="20299">
+            <Name lang="en">sperm antigen with calponin homology and coiled-coil domains 1 like</Name>
+            <Symbol>SPECC1L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CYTSA</Synonym>
+              <Synonym lang="en">KIAA0376</Synonym>
+              <Synonym lang="en">cytokinesis and spindle organization A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142949">
+                <Source>Reactome</Source>
+                <Reference>Q69YQ0</Reference>
+              </ExternalReference>
+              <ExternalReference id="60093">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100014</Reference>
+              </ExternalReference>
+              <ExternalReference id="52316">
+                <Source>Genatlas</Source>
+                <Reference>SPECC1L</Reference>
+              </ExternalReference>
+              <ExternalReference id="52314">
+                <Source>HGNC</Source>
+                <Reference>29022</Reference>
+              </ExternalReference>
+              <ExternalReference id="52315">
+                <Source>OMIM</Source>
+                <Reference>614140</Reference>
+              </ExternalReference>
+              <ExternalReference id="52317">
+                <Source>SwissProt</Source>
+                <Reference>Q69YQ0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="37619">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1647">
+      <OrphaCode>1458</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1458</ExpertLink>
+      <Name lang="en">CODAS syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25574826[PMID]</SourceOfValidation>
+          <Gene id="23127">
+            <Name lang="en">lon peptidase 1, mitochondrial</Name>
+            <Symbol>LONP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LonHS</Synonym>
+              <Synonym lang="en">PIM1</Synonym>
+              <Synonym lang="en">hLON</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="194394">
+                <Source>IUPHAR</Source>
+                <Reference>3180</Reference>
+              </ExternalReference>
+              <ExternalReference id="95158">
+                <Source>Genatlas</Source>
+                <Reference>LONP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95156">
+                <Source>HGNC</Source>
+                <Reference>9479</Reference>
+              </ExternalReference>
+              <ExternalReference id="95157">
+                <Source>OMIM</Source>
+                <Reference>605490</Reference>
+              </ExternalReference>
+              <ExternalReference id="95159">
+                <Source>SwissProt</Source>
+                <Reference>P36776</Reference>
+              </ExternalReference>
+              <ExternalReference id="95160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196365</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19p13.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1644">
+      <OrphaCode>1454</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1454</ExpertLink>
+      <Name lang="en">Joubert syndrome with hepatic defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="15629">
+            <Name lang="en">transmembrane protein 67</Name>
+            <Symbol>TMEM67</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JBTS6</Synonym>
+              <Synonym lang="en">MGC26979</Synonym>
+              <Synonym lang="en">Meckelin</Synonym>
+              <Synonym lang="en">NPHP11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164953</Reference>
+              </ExternalReference>
+              <ExternalReference id="27443">
+                <Source>Genatlas</Source>
+                <Reference>TMEM67</Reference>
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+              <ExternalReference id="27445">
+                <Source>HGNC</Source>
+                <Reference>28396</Reference>
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+              <ExternalReference id="27444">
+                <Source>OMIM</Source>
+                <Reference>609884</Reference>
+              </ExternalReference>
+              <ExternalReference id="97187">
+                <Source>Reactome</Source>
+                <Reference>Q5HYA8</Reference>
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+              <ExternalReference id="32601">
+                <Source>SwissProt</Source>
+                <Reference>Q5HYA8</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19574260[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="16985">
+            <Name lang="en">RPGRIP1 like</Name>
+            <Symbol>RPGRIP1L</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">CORS3</Synonym>
+              <Synonym lang="en">FTM</Synonym>
+              <Synonym lang="en">JBTS7</Synonym>
+              <Synonym lang="en">KIAA1005</Synonym>
+              <Synonym lang="en">MKS5</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 5</Synonym>
+              <Synonym lang="en">NPHP8</Synonym>
+              <Synonym lang="en">PPP1R134</Synonym>
+              <Synonym lang="en">fantom homolog</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 134</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57107">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103494</Reference>
+              </ExternalReference>
+              <ExternalReference id="36971">
+                <Source>Genatlas</Source>
+                <Reference>RPGRIP1L</Reference>
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+              <ExternalReference id="36972">
+                <Source>HGNC</Source>
+                <Reference>29168</Reference>
+              </ExternalReference>
+              <ExternalReference id="35913">
+                <Source>OMIM</Source>
+                <Reference>610937</Reference>
+              </ExternalReference>
+              <ExternalReference id="97252">
+                <Source>Reactome</Source>
+                <Reference>Q68CZ1</Reference>
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+              <ExternalReference id="35912">
+                <Source>SwissProt</Source>
+                <Reference>Q68CZ1</Reference>
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+              <Locus id="16751">
+                <GeneLocus>16q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19574260[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="17353">
+            <Name lang="en">coiled-coil and C2 domain containing 2A</Name>
+            <Symbol>CC2D2A</Symbol>
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+              <Synonym lang="en">JBTS9</Synonym>
+              <Synonym lang="en">KIAA1345</Synonym>
+              <Synonym lang="en">MKS6</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97259">
+                <Source>Reactome</Source>
+                <Reference>Q9P2K1</Reference>
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+              <ExternalReference id="36976">
+                <Source>SwissProt</Source>
+                <Reference>Q9P2K1</Reference>
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+              <ExternalReference id="57105">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048342</Reference>
+              </ExternalReference>
+              <ExternalReference id="36974">
+                <Source>Genatlas</Source>
+                <Reference>CC2D2A</Reference>
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+              <ExternalReference id="36975">
+                <Source>HGNC</Source>
+                <Reference>29253</Reference>
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+              <ExternalReference id="37588">
+                <Source>OMIM</Source>
+                <Reference>612013</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301500[PMID]_19668216[PMID]</SourceOfValidation>
+          <Gene id="18603">
+            <Name lang="en">inositol polyphosphate-5-phosphatase E</Name>
+            <Symbol>INPP5E</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CORS1</Synonym>
+              <Synonym lang="en">PPI5PIV</Synonym>
+              <Synonym lang="en">pharbin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57922">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>INPP5E</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83153">
+                <Source>Reactome</Source>
+                <Reference>Q9NRR6</Reference>
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+              <ExternalReference id="42986">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRR6</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1456</Reference>
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+      <Name lang="en">Coats disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301506[PMID]_10484772[PMID]</SourceOfValidation>
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+            <Name lang="en">norrin cystine knot growth factor NDP</Name>
+            <Symbol>NDP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">norrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="56948">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124479</Reference>
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+                <Reference>NDP</Reference>
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+                <Reference>300658</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q00604</Reference>
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+      <Name lang="en">Benign hereditary chorea</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17094">
+            <Name lang="en">NK2 homeobox 1</Name>
+            <Symbol>NKX2-1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TTF-1</Synonym>
+              <Synonym lang="en">TTF1</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136352</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NKX2-1</Reference>
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+                <Reference>11825</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600635</Reference>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>26085604[PMID]</SourceOfValidation>
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+            <Name lang="en">adenylate cyclase 5</Name>
+            <Symbol>ADCY5</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173175</Reference>
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+                <Reference>236</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Greenberg dysplasia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21327084[PMID]</SourceOfValidation>
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+            <Name lang="en">lamin B receptor</Name>
+            <Symbol>LBR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DHCR14B</Synonym>
+              <Synonym lang="en">TDRD18</Synonym>
+              <Synonym lang="en">tudor domain containing 18</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>600024</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14739</Reference>
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+                <Reference>Q14739</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143815</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LBR</Reference>
+              </ExternalReference>
+              <ExternalReference id="30850">
+                <Source>HGNC</Source>
+                <Reference>6518</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22849">
+                <GeneLocus>1q42.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1633">
+      <OrphaCode>1427</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1427</ExpertLink>
+      <Name lang="en">Otospondylomegaepiphyseal dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10677296[PMID]_21438135[PMID]</SourceOfValidation>
+          <Gene id="15764">
+            <Name lang="en">collagen type XI alpha 2 chain</Name>
+            <Symbol>COL11A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HKE5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204248</Reference>
+              </ExternalReference>
+              <ExternalReference id="28078">
+                <Source>Genatlas</Source>
+                <Reference>COL11A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28076">
+                <Source>HGNC</Source>
+                <Reference>2187</Reference>
+              </ExternalReference>
+              <ExternalReference id="28075">
+                <Source>OMIM</Source>
+                <Reference>120290</Reference>
+              </ExternalReference>
+              <ExternalReference id="82863">
+                <Source>Reactome</Source>
+                <Reference>P13942</Reference>
+              </ExternalReference>
+              <ExternalReference id="32736">
+                <Source>SwissProt</Source>
+                <Reference>P13942</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25293">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1638">
+      <OrphaCode>1435</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1435</ExpertLink>
+      <Name lang="en">Xq21 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17935254[PMID]</SourceOfValidation>
+          <Gene id="15126">
+            <Name lang="en">POU class 3 homeobox 4</Name>
+            <Symbol>POU3F4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRN4</Synonym>
+              <Synonym lang="en">DFNX2</Synonym>
+              <Synonym lang="en">OTF9</Synonym>
+              <Synonym lang="en">Octamer-binding transcription factor 9</Synonym>
+              <Synonym lang="en">brain-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56900">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196767</Reference>
+              </ExternalReference>
+              <ExternalReference id="25037">
+                <Source>Genatlas</Source>
+                <Reference>POU3F4</Reference>
+              </ExternalReference>
+              <ExternalReference id="25035">
+                <Source>HGNC</Source>
+                <Reference>9217</Reference>
+              </ExternalReference>
+              <ExternalReference id="25034">
+                <Source>OMIM</Source>
+                <Reference>300039</Reference>
+              </ExternalReference>
+              <ExternalReference id="33237">
+                <Source>SwissProt</Source>
+                <Reference>P49335</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6821">
+                <GeneLocus>Xq21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17086">
+      <OrphaCode>155878</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=155878</ExpertLink>
+      <Name lang="en">Submucosal cleft palate</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27018472[PMID]_27018475[PMID]</SourceOfValidation>
+          <Gene id="22597">
+            <Name lang="en">grainyhead like transcription factor 3</Name>
+            <Symbol>GRHL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SOM</Synonym>
+              <Synonym lang="en">sister-of-mammalian grainyhead</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143939">
+                <Source>Reactome</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+              <ExternalReference id="85387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158055</Reference>
+              </ExternalReference>
+              <ExternalReference id="85232">
+                <Source>Genatlas</Source>
+                <Reference>GRHL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="85230">
+                <Source>HGNC</Source>
+                <Reference>25839</Reference>
+              </ExternalReference>
+              <ExternalReference id="85231">
+                <Source>OMIM</Source>
+                <Reference>608317</Reference>
+              </ExternalReference>
+              <ExternalReference id="85233">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39345">
+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17468296[PMID]</SourceOfValidation>
+          <Gene id="25118">
+            <Name lang="en">ubiquitin B</Name>
+            <Symbol>UBB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ25987</Synonym>
+              <Synonym lang="en">MGC8385</Synonym>
+              <Synonym lang="en">polyubiquitin B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135083">
+                <Source>OMIM</Source>
+                <Reference>191339</Reference>
+              </ExternalReference>
+              <ExternalReference id="135087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170315</Reference>
+              </ExternalReference>
+              <ExternalReference id="135082">
+                <Source>HGNC</Source>
+                <Reference>12463</Reference>
+              </ExternalReference>
+              <ExternalReference id="135084">
+                <Source>Genatlas</Source>
+                <Reference>UBB</Reference>
+              </ExternalReference>
+              <ExternalReference id="135085">
+                <Source>SwissProt</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
+              <ExternalReference id="135086">
+                <Source>Reactome</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36005">
+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1663">
+      <OrphaCode>1490</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1490</ExpertLink>
+      <Name lang="en">Corneal dystrophy-perceptive deafness syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17220209[PMID]_18922146[PMID]</SourceOfValidation>
+          <Gene id="15513">
+            <Name lang="en">solute carrier family 4 member 11</Name>
+            <Symbol>SLC4A11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BTR1</Synonym>
+              <Synonym lang="en">FECD4</Synonym>
+              <Synonym lang="en">NaBC1</Synonym>
+              <Synonym lang="en">dJ794I6.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088836</Reference>
+              </ExternalReference>
+              <ExternalReference id="36628">
+                <Source>Genatlas</Source>
+                <Reference>SLC4A11</Reference>
+              </ExternalReference>
+              <ExternalReference id="26890">
+                <Source>HGNC</Source>
+                <Reference>16438</Reference>
+              </ExternalReference>
+              <ExternalReference id="26889">
+                <Source>OMIM</Source>
+                <Reference>610206</Reference>
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+              <ExternalReference id="32484">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBS3</Reference>
+              </ExternalReference>
+              <ExternalReference id="193653">
+                <Source>IUPHAR</Source>
+                <Reference>913</Reference>
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+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1660">
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+      <Name lang="en">Lethal congenital contracture syndrome type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18204449[PMID]</SourceOfValidation>
+          <Gene id="17465">
+            <Name lang="en">GLE1 RNA export mediator</Name>
+            <Symbol>GLE1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hGLE1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58075">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119392</Reference>
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+              <ExternalReference id="38202">
+                <Source>Genatlas</Source>
+                <Reference>GLE1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4315</Reference>
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+              <ExternalReference id="38203">
+                <Source>OMIM</Source>
+                <Reference>603371</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q53GS7</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q53GS7</Reference>
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+                <GeneLocus>9q34.11</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17074">
+      <OrphaCode>141276</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=141276</ExpertLink>
+      <Name lang="en">Tessier number 7 facial cleft</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19208383[PMID]</SourceOfValidation>
+          <Gene id="15165">
+            <Name lang="en">patched 2</Name>
+            <Symbol>PTCH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60094">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117425</Reference>
+              </ExternalReference>
+              <ExternalReference id="37324">
+                <Source>Genatlas</Source>
+                <Reference>PTCH2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9586</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603673</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6C5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y6C5</Reference>
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+                <GeneLocus>1p34.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21703590[PMID]</SourceOfValidation>
+          <Gene id="20299">
+            <Name lang="en">sperm antigen with calponin homology and coiled-coil domains 1 like</Name>
+            <Symbol>SPECC1L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CYTSA</Synonym>
+              <Synonym lang="en">KIAA0376</Synonym>
+              <Synonym lang="en">cytokinesis and spindle organization A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142949">
+                <Source>Reactome</Source>
+                <Reference>Q69YQ0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100014</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>SPECC1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29022</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614140</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>Q69YQ0</Reference>
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+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1649">
+      <OrphaCode>1466</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1466</ExpertLink>
+      <Name lang="en">COFS syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>11443545[PMID]</SourceOfValidation>
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+            <Name lang="en">ERCC excision repair 2, TFIIH core complex helicase subunit</Name>
+            <Symbol>ERCC2</Symbol>
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+              <Synonym lang="en">EM9</Synonym>
+              <Synonym lang="en">MAG</Synonym>
+              <Synonym lang="en">MGC102762</Synonym>
+              <Synonym lang="en">MGC126218</Synonym>
+              <Synonym lang="en">MGC126219</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">TFIIH basal transcription factor complex helicase XPB subunit</Synonym>
+              <Synonym lang="en">excision repair cross-complementing rodent repair deficiency, complementation group 2 protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104884</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERCC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3434</Reference>
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+                <Source>OMIM</Source>
+                <Reference>126340</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P18074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P18074</Reference>
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+                <GeneLocus>19q13.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301516[PMID]</SourceOfValidation>
+          <Gene id="15991">
+            <Name lang="en">ERCC excision repair 6, chromatin remodeling factor</Name>
+            <Symbol>ERCC6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARMD5</Synonym>
+              <Synonym lang="en">CSB</Synonym>
+              <Synonym lang="en">Cockayne syndrome B protein</Synonym>
+              <Synonym lang="en">RAD26</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000225830</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERCC6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3438</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609413</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q03468</Reference>
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+              <ExternalReference id="33005">
+                <Source>SwissProt</Source>
+                <Reference>Q03468</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24700531[PMID]</SourceOfValidation>
+          <Gene id="16666">
+            <Name lang="en">ERCC excision repair 5, endonuclease</Name>
+            <Symbol>ERCC5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Cockayne syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33987">
+                <Source>Genatlas</Source>
+                <Reference>ERCC5</Reference>
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+              <ExternalReference id="33989">
+                <Source>HGNC</Source>
+                <Reference>3437</Reference>
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+              <ExternalReference id="33988">
+                <Source>OMIM</Source>
+                <Reference>133530</Reference>
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+              <ExternalReference id="58072">
+                <Source>Reactome</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="33990">
+                <Source>SwissProt</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="58071">
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+                <Reference>ENSG00000134899</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17273966[PMID]</SourceOfValidation>
+          <Gene id="16865">
+            <Name lang="en">ERCC excision repair 1, endonuclease non-catalytic subunit</Name>
+            <Symbol>ERCC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RAD10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P07992</Reference>
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+              <ExternalReference id="58069">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012061</Reference>
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+              <ExternalReference id="35283">
+                <Source>Genatlas</Source>
+                <Reference>ERCC1</Reference>
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+              <ExternalReference id="35281">
+                <Source>HGNC</Source>
+                <Reference>3433</Reference>
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+                <Source>OMIM</Source>
+                <Reference>126380</Reference>
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+              <ExternalReference id="58070">
+                <Source>Reactome</Source>
+                <Reference>P07992</Reference>
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+                <GeneLocus>19q13.32</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>141291</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=141291</ExpertLink>
+      <Name lang="en">Cleft lip and alveolus</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16468">
+            <Name lang="en">msh homeobox 1</Name>
+            <Symbol>MSX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HYD1</Synonym>
+              <Synonym lang="en">OFC5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>7391</Reference>
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+              <ExternalReference id="31443">
+                <Source>OMIM</Source>
+                <Reference>142983</Reference>
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+              <ExternalReference id="33533">
+                <Source>SwissProt</Source>
+                <Reference>P28360</Reference>
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+              <ExternalReference id="58160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163132</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16740912[PMID]_21567929[PMID]</SourceOfValidation>
+          <Gene id="15645">
+            <Name lang="en">tumor protein p63</Name>
+            <Symbol>TP63</Symbol>
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+              <Synonym lang="en">EEC3</Synonym>
+              <Synonym lang="en">KET</Synonym>
+              <Synonym lang="en">NBP</Synonym>
+              <Synonym lang="en">OFC8</Synonym>
+              <Synonym lang="en">SHFM4</Synonym>
+              <Synonym lang="en">p51</Synonym>
+              <Synonym lang="en">p53CP</Synonym>
+              <Synonym lang="en">p63</Synonym>
+              <Synonym lang="en">p73H</Synonym>
+              <Synonym lang="en">p73L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57145">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TP63</Reference>
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+              <ExternalReference id="37604">
+                <Source>HGNC</Source>
+                <Reference>15979</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97191">
+                <Source>Reactome</Source>
+                <Reference>Q9H3D4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3D4</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17438386[PMID]</SourceOfValidation>
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+            <Symbol>IRF6</Symbol>
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+              <Synonym lang="en">OFC6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117595</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6121</Reference>
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+              <ExternalReference id="30509">
+                <Source>OMIM</Source>
+                <Reference>607199</Reference>
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+              <ExternalReference id="57139">
+                <Source>Reactome</Source>
+                <Reference>O14896</Reference>
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+              <ExternalReference id="33334">
+                <Source>SwissProt</Source>
+                <Reference>O14896</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16674562[PMID]</SourceOfValidation>
+          <Gene id="15174">
+            <Name lang="en">nectin cell adhesion molecule 1</Name>
+            <Symbol>NECTIN1</Symbol>
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+              <Synonym lang="en">PVRR1</Synonym>
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+              <Synonym lang="en">nectin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>600644</Reference>
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+              <ExternalReference id="57141">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">peptidyl arginine deiminase 3</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULW8</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142619</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Familial calcium pyrophosphate deposition</Name>
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+            <Name lang="en">TNF receptor superfamily member 11b</Name>
+            <Symbol>TNFRSF11B</Symbol>
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+              <Synonym lang="en">OCIF</Synonym>
+              <Synonym lang="en">TR1</Synonym>
+              <Synonym lang="en">osteoclastogenesis inhibitory factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ANKH inorganic pyrophosphate transport regulator</Name>
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+              <Synonym lang="en">CPPDD</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>15492</Reference>
+              </ExternalReference>
+              <ExternalReference id="28864">
+                <Source>OMIM</Source>
+                <Reference>605145</Reference>
+              </ExternalReference>
+              <ExternalReference id="97210">
+                <Source>Reactome</Source>
+                <Reference>Q9HCJ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="32944">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCJ1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66631">
+                <GeneLocus>5p15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1600">
+      <OrphaCode>1394</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1394</ExpertLink>
+      <Name lang="en">Cerebrofaciothoracic dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24194475[PMID]</SourceOfValidation>
+          <Gene id="19222">
+            <Name lang="en">transmembrane and coiled-coil domains 1</Name>
+            <Symbol>TMCO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Ca(2+) load-activated Ca(2+) channel</Synonym>
+              <Synonym lang="en">HP10122</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60386">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143183</Reference>
+              </ExternalReference>
+              <ExternalReference id="46406">
+                <Source>Genatlas</Source>
+                <Reference>TMCO1</Reference>
+              </ExternalReference>
+              <ExternalReference id="46405">
+                <Source>HGNC</Source>
+                <Reference>18188</Reference>
+              </ExternalReference>
+              <ExternalReference id="53133">
+                <Source>OMIM</Source>
+                <Reference>614123</Reference>
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+              <ExternalReference id="46407">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM00</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15843">
+                <GeneLocus>1q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1607">
+      <OrphaCode>1401</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1401</ExpertLink>
+      <Name lang="en">CHAND syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28940926[PMID]_25098893[PMID]</SourceOfValidation>
+          <Gene id="20791">
+            <Name lang="en">receptor interacting serine/threonine kinase 4</Name>
+            <Symbol>RIPK4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ANKK2</Synonym>
+              <Synonym lang="en">DIK</Synonym>
+              <Synonym lang="en">PKC-delta-interacting protein kinase</Synonym>
+              <Synonym lang="en">PKK</Synonym>
+              <Synonym lang="en">Protein kinase C-associated kinase</Synonym>
+              <Synonym lang="en">RIP4</Synonym>
+              <Synonym lang="en">protein kinase C-associated kinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143936">
+                <Source>Reactome</Source>
+                <Reference>P57078</Reference>
+              </ExternalReference>
+              <ExternalReference id="60687">
+                <Source>SwissProt</Source>
+                <Reference>P57078</Reference>
+              </ExternalReference>
+              <ExternalReference id="60688">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183421</Reference>
+              </ExternalReference>
+              <ExternalReference id="60686">
+                <Source>Genatlas</Source>
+                <Reference>RIPK4</Reference>
+              </ExternalReference>
+              <ExternalReference id="60684">
+                <Source>HGNC</Source>
+                <Reference>496</Reference>
+              </ExternalReference>
+              <ExternalReference id="83241">
+                <Source>IUPHAR</Source>
+                <Reference>2192</Reference>
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+              <ExternalReference id="60685">
+                <Source>OMIM</Source>
+                <Reference>605706</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17030">
+      <OrphaCode>141074</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=141074</ExpertLink>
+      <Name lang="en">External auditory canal aplasia/hypoplasia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22152683[PMID]</SourceOfValidation>
+          <Gene id="20803">
+            <Name lang="en">teashirt zinc finger homeobox 1</Name>
+            <Symbol>TSHZ1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NY-CO-33</Synonym>
+              <Synonym lang="en">TSH1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60904">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179981</Reference>
+              </ExternalReference>
+              <ExternalReference id="60902">
+                <Source>Genatlas</Source>
+                <Reference>TSHZ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="60900">
+                <Source>HGNC</Source>
+                <Reference>10669</Reference>
+              </ExternalReference>
+              <ExternalReference id="60901">
+                <Source>OMIM</Source>
+                <Reference>614427</Reference>
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+              <ExternalReference id="60903">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZSZ6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="11811">
+                <GeneLocus>18q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="1624">
+      <OrphaCode>174</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=174</ExpertLink>
+      <Name lang="en">Metaphyseal chondrodysplasia, Schmid type</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17403716[PMID]</SourceOfValidation>
+          <Gene id="15762">
+            <Name lang="en">collagen type X alpha 1 chain</Name>
+            <Symbol>COL10A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Schmid metaphyseal chondrodysplasia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58064">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123500</Reference>
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+              <ExternalReference id="28068">
+                <Source>Genatlas</Source>
+                <Reference>COL10A1</Reference>
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+              <ExternalReference id="28066">
+                <Source>HGNC</Source>
+                <Reference>2185</Reference>
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+              <ExternalReference id="28065">
+                <Source>OMIM</Source>
+                <Reference>120110</Reference>
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+              <ExternalReference id="82861">
+                <Source>Reactome</Source>
+                <Reference>Q03692</Reference>
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+              <ExternalReference id="32734">
+                <Source>SwissProt</Source>
+                <Reference>Q03692</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6q22.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="1631">
+      <OrphaCode>1425</OrphaCode>
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+      <Name lang="en">Desbuquois syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31325655[PMID]_27599773[PMID]</SourceOfValidation>
+          <Gene id="31545">
+            <Name lang="en">chondroitin sulfate N-acetylgalactosaminyltransferase 1</Name>
+            <Symbol>CSGALNACT1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="209066">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147408</Reference>
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+              <ExternalReference id="209067">
+                <Source>OMIM</Source>
+                <Reference>616615</Reference>
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+              <ExternalReference id="209068">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDX6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24290</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22539336[PMID]</SourceOfValidation>
+          <Gene id="18891">
+            <Name lang="en">calcium activated nucleotidase 1</Name>
+            <Symbol>CANT1</Symbol>
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+              <Synonym lang="en">SHAPY</Synonym>
+              <Synonym lang="en">Soluble Ca-Activated Nucleotidase, isozyme 1</Synonym>
+              <Synonym lang="en">apyrase 1 homolog (C. lectularius)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126387">
+                <Source>Reactome</Source>
+                <Reference>Q8WVQ1</Reference>
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+              <ExternalReference id="58065">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171302</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CANT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19721</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613165</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WVQ1</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24581741[PMID]</SourceOfValidation>
+          <Gene id="22574">
+            <Name lang="en">xylosyltransferase 1</Name>
+            <Symbol>XYLT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PXYLT1</Synonym>
+              <Synonym lang="en">XT-I</Synonym>
+              <Synonym lang="en">protein xylosyltransferase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103489</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>15516</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608124</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86Y38</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86Y38</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="17135">
+      <OrphaCode>156728</OrphaCode>
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+      <Name lang="en">Spondyloepimetaphyseal dysplasia, matrilin-3 type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15121775[PMID]</SourceOfValidation>
+          <Gene id="16381">
+            <Name lang="en">matrilin 3</Name>
+            <Symbol>MATN3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EDM5</Synonym>
+              <Synonym lang="en">HOA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O15232</Reference>
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+              <ExternalReference id="59680">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132031</Reference>
+              </ExternalReference>
+              <ExternalReference id="31042">
+                <Source>Genatlas</Source>
+                <Reference>MATN3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6909</Reference>
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+                <Reference>602109</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15232</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Hereditary hyperferritinemia-cataract syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>10759702[PMID]</SourceOfValidation>
+          <Gene id="16080">
+            <Name lang="en">ferritin light chain</Name>
+            <Symbol>FTL</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">L apoferritin</Synonym>
+              <Synonym lang="en">MGC71996</Synonym>
+              <Synonym lang="en">NBIA3</Synonym>
+              <Synonym lang="en">ferritin L subunit</Synonym>
+              <Synonym lang="en">ferritin L-chain</Synonym>
+              <Synonym lang="en">ferritin light polypeptide-like 3</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 3</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087086</Reference>
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+              <ExternalReference id="29610">
+                <Source>Genatlas</Source>
+                <Reference>FTL</Reference>
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+              <ExternalReference id="29608">
+                <Source>HGNC</Source>
+                <Reference>3999</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134790</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02792</Reference>
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+              <ExternalReference id="33095">
+                <Source>SwissProt</Source>
+                <Reference>P02792</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>1393</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1393</ExpertLink>
+      <Name lang="en">Cerebrocostomandibular syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25047197[PMID]</SourceOfValidation>
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+            <Name lang="en">small nuclear ribonucleoprotein polypeptides B and B1</Name>
+            <Symbol>SNRPB</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">COD</Synonym>
+              <Synonym lang="en">Sm-B/B'</Synonym>
+              <Synonym lang="en">SmB/SmB'</Synonym>
+              <Synonym lang="en">snRNP-B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="94673">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125835</Reference>
+              </ExternalReference>
+              <ExternalReference id="94671">
+                <Source>Genatlas</Source>
+                <Reference>SNRPB</Reference>
+              </ExternalReference>
+              <ExternalReference id="94669">
+                <Source>HGNC</Source>
+                <Reference>11153</Reference>
+              </ExternalReference>
+              <ExternalReference id="94670">
+                <Source>OMIM</Source>
+                <Reference>182282</Reference>
+              </ExternalReference>
+              <ExternalReference id="97020">
+                <Source>Reactome</Source>
+                <Reference>P14678</Reference>
+              </ExternalReference>
+              <ExternalReference id="94672">
+                <Source>SwissProt</Source>
+                <Reference>P14678</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16515">
+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17149">
+      <OrphaCode>157820</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157820</ExpertLink>
+      <Name lang="en">Cold-induced sweating syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27392078[PMID]</SourceOfValidation>
+          <Gene id="18464">
+            <Name lang="en">kelch like family member 7</Name>
+            <Symbol>KLHL7</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KLHL6</Synonym>
+              <Synonym lang="en">RP42</Synonym>
+              <Synonym lang="en">SBBI26</Synonym>
+              <Synonym lang="en">retinitis pigmentosa 42</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57543">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122550</Reference>
+              </ExternalReference>
+              <ExternalReference id="42413">
+                <Source>Genatlas</Source>
+                <Reference>KLHL7</Reference>
+              </ExternalReference>
+              <ExternalReference id="42414">
+                <Source>HGNC</Source>
+                <Reference>15646</Reference>
+              </ExternalReference>
+              <ExternalReference id="42415">
+                <Source>OMIM</Source>
+                <Reference>611119</Reference>
+              </ExternalReference>
+              <ExternalReference id="42416">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXQ5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10775">
+                <GeneLocus>7p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21370513[PMID]_12509788[PMID]_17436251[PMID]</SourceOfValidation>
+          <Gene id="16440">
+            <Name lang="en">cytokine receptor like factor 1</Name>
+            <Symbol>CRLF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CISS</Synonym>
+              <Synonym lang="en">CISS1</Synonym>
+              <Synonym lang="en">CLF</Synonym>
+              <Synonym lang="en">CLF-1</Synonym>
+              <Synonym lang="en">cold-induced sweating syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006016</Reference>
+              </ExternalReference>
+              <ExternalReference id="36894">
+                <Source>Genatlas</Source>
+                <Reference>CRLF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31300">
+                <Source>HGNC</Source>
+                <Reference>2364</Reference>
+              </ExternalReference>
+              <ExternalReference id="31299">
+                <Source>OMIM</Source>
+                <Reference>604237</Reference>
+              </ExternalReference>
+              <ExternalReference id="98071">
+                <Source>Reactome</Source>
+                <Reference>O75462</Reference>
+              </ExternalReference>
+              <ExternalReference id="33500">
+                <Source>SwissProt</Source>
+                <Reference>O75462</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17753">
+                <GeneLocus>19p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1678282[PMID]_21370513[PMID]_20400119[PMID]</SourceOfValidation>
+          <Gene id="17294">
+            <Name lang="en">cardiotrophin like cytokine factor 1</Name>
+            <Symbol>CLCF1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B-cell stimulating factor 3</Synonym>
+              <Synonym lang="en">BSF-3</Synonym>
+              <Synonym lang="en">BSF3</Synonym>
+              <Synonym lang="en">CISS2</Synonym>
+              <Synonym lang="en">CLC</Synonym>
+              <Synonym lang="en">NNT-1</Synonym>
+              <Synonym lang="en">NNT1</Synonym>
+              <Synonym lang="en">NR6</Synonym>
+              <Synonym lang="en">cold-induced sweating syndrome 2</Synonym>
+              <Synonym lang="en">novel neurotrophin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60103">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175505</Reference>
+              </ExternalReference>
+              <ExternalReference id="36682">
+                <Source>Genatlas</Source>
+                <Reference>CLCF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36683">
+                <Source>HGNC</Source>
+                <Reference>17412</Reference>
+              </ExternalReference>
+              <ExternalReference id="37592">
+                <Source>OMIM</Source>
+                <Reference>607672</Reference>
+              </ExternalReference>
+              <ExternalReference id="98074">
+                <Source>Reactome</Source>
+                <Reference>Q9UBD9</Reference>
+              </ExternalReference>
+              <ExternalReference id="40068">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBD9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23737">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17146">
+      <OrphaCode>157798</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157798</ExpertLink>
+      <Name lang="en">Serrated polyposis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27081527[PMID]</SourceOfValidation>
+          <Gene id="23681">
+            <Name lang="en">ring finger protein 43</Name>
+            <Symbol>RNF43</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp781H0392</Synonym>
+              <Synonym lang="en">FLJ20315</Synonym>
+              <Synonym lang="en">URCC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100757">
+                <Source>HGNC</Source>
+                <Reference>18505</Reference>
+              </ExternalReference>
+              <ExternalReference id="100758">
+                <Source>OMIM</Source>
+                <Reference>612482</Reference>
+              </ExternalReference>
+              <ExternalReference id="100759">
+                <Source>Genatlas</Source>
+                <Reference>RNF43</Reference>
+              </ExternalReference>
+              <ExternalReference id="100760">
+                <Source>SwissProt</Source>
+                <Reference>Q68DV7</Reference>
+              </ExternalReference>
+              <ExternalReference id="100761">
+                <Source>Reactome</Source>
+                <Reference>Q68DV7</Reference>
+              </ExternalReference>
+              <ExternalReference id="100762">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108375</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66805">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1594">
+      <OrphaCode>1388</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1388</ExpertLink>
+      <Name lang="en">Catel-Manzke syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25480037[PMID]</SourceOfValidation>
+          <Gene id="23094">
+            <Name lang="en">TDP-glucose 4,6-dehydratase</Name>
+            <Symbol>TGDS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SDR2E1</Synonym>
+              <Synonym lang="en">TDPGD</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 2E, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95062">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088451</Reference>
+              </ExternalReference>
+              <ExternalReference id="95060">
+                <Source>Genatlas</Source>
+                <Reference>TGDS</Reference>
+              </ExternalReference>
+              <ExternalReference id="95058">
+                <Source>HGNC</Source>
+                <Reference>20324</Reference>
+              </ExternalReference>
+              <ExternalReference id="95059">
+                <Source>OMIM</Source>
+                <Reference>616146</Reference>
+              </ExternalReference>
+              <ExternalReference id="95061">
+                <Source>SwissProt</Source>
+                <Reference>O95455</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14275">
+                <GeneLocus>13q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="17147">
+      <OrphaCode>157801</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157801</ExpertLink>
+      <Name lang="en">Mesoaxial synostotic syndactyly with phalangeal reduction</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25466284[PMID]</SourceOfValidation>
+          <Gene id="20801">
+            <Name lang="en">basic helix-loop-helix family member a9</Name>
+            <Symbol>BHLHA9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BHLHF42</Synonym>
+              <Synonym lang="en">Fingerin</Synonym>
+              <Synonym lang="en">bHLHa9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60890">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205899</Reference>
+              </ExternalReference>
+              <ExternalReference id="82593">
+                <Source>Genatlas</Source>
+                <Reference>BHLHA9</Reference>
+              </ExternalReference>
+              <ExternalReference id="60888">
+                <Source>HGNC</Source>
+                <Reference>35126</Reference>
+              </ExternalReference>
+              <ExternalReference id="82592">
+                <Source>OMIM</Source>
+                <Reference>615416</Reference>
+              </ExternalReference>
+              <ExternalReference id="60889">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTU4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="11807">
+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1593">
+      <OrphaCode>1387</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1387</ExpertLink>
+      <Name lang="en">Cataract-intellectual disability-hypogonadism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23420520[PMID]</SourceOfValidation>
+          <Gene id="15180">
+            <Name lang="en">RAB3 GTPase activating protein catalytic subunit 1</Name>
+            <Symbol>RAB3GAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0066</Synonym>
+              <Synonym lang="en">RAB3GAP</Synonym>
+              <Synonym lang="en">RAB3GAP130</Synonym>
+              <Synonym lang="en">WARBM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100288">
+                <Source>Reactome</Source>
+                <Reference>Q15042</Reference>
+              </ExternalReference>
+              <ExternalReference id="36658">
+                <Source>Genatlas</Source>
+                <Reference>RAB3GAP1</Reference>
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+              <ExternalReference id="25292">
+                <Source>HGNC</Source>
+                <Reference>17063</Reference>
+              </ExternalReference>
+              <ExternalReference id="25291">
+                <Source>OMIM</Source>
+                <Reference>602536</Reference>
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+              <ExternalReference id="33704">
+                <Source>SwissProt</Source>
+                <Reference>Q15042</Reference>
+              </ExternalReference>
+              <ExternalReference id="58218">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115839</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="19151">
+                <GeneLocus>2q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23420520[PMID]</SourceOfValidation>
+          <Gene id="15181">
+            <Name lang="en">RAB3 GTPase activating non-catalytic protein subunit 2</Name>
+            <Symbol>RAB3GAP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP434D245</Synonym>
+              <Synonym lang="en">KIAA0839</Synonym>
+              <Synonym lang="en">RAB3-GAP150</Synonym>
+              <Synonym lang="en">SPG69</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100289">
+                <Source>Reactome</Source>
+                <Reference>Q9H2M9</Reference>
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+              <ExternalReference id="58060">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118873</Reference>
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+              <ExternalReference id="25298">
+                <Source>Genatlas</Source>
+                <Reference>RAB3GAP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17168</Reference>
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+              <ExternalReference id="25295">
+                <Source>OMIM</Source>
+                <Reference>609275</Reference>
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+              <ExternalReference id="33705">
+                <Source>SwissProt</Source>
+                <Reference>Q9H2M9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17144">
+      <OrphaCode>157791</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157791</ExpertLink>
+      <Name lang="en">Epithelioid hemangioendothelioma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>24986479[PMID]</SourceOfValidation>
+          <Gene id="15603">
+            <Name lang="en">transcription factor binding to IGHM enhancer 3</Name>
+            <Symbol>TFE3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TFEA</Synonym>
+              <Synonym lang="en">bHLHe33</Synonym>
+              <Synonym lang="en">transcription factor E family, member A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>P19532</Reference>
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+              <ExternalReference id="59082">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068323</Reference>
+              </ExternalReference>
+              <ExternalReference id="37375">
+                <Source>Genatlas</Source>
+                <Reference>TFE3</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>11752</Reference>
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+              <ExternalReference id="27320">
+                <Source>OMIM</Source>
+                <Reference>314310</Reference>
+              </ExternalReference>
+              <ExternalReference id="32574">
+                <Source>SwissProt</Source>
+                <Reference>P19532</Reference>
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+              <Locus id="39429">
+                <GeneLocus>Xp11.23</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24986479[PMID]</SourceOfValidation>
+          <Gene id="21603">
+            <Name lang="en">calmodulin binding transcription activator 1</Name>
+            <Symbol>CAMTA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0833</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83573">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171735</Reference>
+              </ExternalReference>
+              <ExternalReference id="75006">
+                <Source>Genatlas</Source>
+                <Reference>CAMTA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="75004">
+                <Source>HGNC</Source>
+                <Reference>18806</Reference>
+              </ExternalReference>
+              <ExternalReference id="75005">
+                <Source>OMIM</Source>
+                <Reference>611501</Reference>
+              </ExternalReference>
+              <ExternalReference id="75007">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6Y1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12243">
+                <GeneLocus>1p36.31-p36.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24986479[PMID]</SourceOfValidation>
+          <Gene id="22672">
+            <Name lang="en">Yes1 associated transcriptional regulator</Name>
+            <Symbol>YAP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">YAP65</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="88026">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137693</Reference>
+              </ExternalReference>
+              <ExternalReference id="87807">
+                <Source>Genatlas</Source>
+                <Reference>YAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="87805">
+                <Source>HGNC</Source>
+                <Reference>16262</Reference>
+              </ExternalReference>
+              <ExternalReference id="87806">
+                <Source>OMIM</Source>
+                <Reference>606608</Reference>
+              </ExternalReference>
+              <ExternalReference id="88025">
+                <Source>Reactome</Source>
+                <Reference>P46937</Reference>
+              </ExternalReference>
+              <ExternalReference id="87808">
+                <Source>SwissProt</Source>
+                <Reference>P46937</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24033">
+                <GeneLocus>11q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24986479[PMID]</SourceOfValidation>
+          <Gene id="23229">
+            <Name lang="en">WW domain containing transcription regulator 1</Name>
+            <Symbol>WWTR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586I1419</Synonym>
+              <Synonym lang="en">TAZ</Synonym>
+              <Synonym lang="en">transcriptional coactivator with PDZ-binding motif</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95671">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000018408</Reference>
+              </ExternalReference>
+              <ExternalReference id="95668">
+                <Source>Genatlas</Source>
+                <Reference>WWTR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95666">
+                <Source>HGNC</Source>
+                <Reference>24042</Reference>
+              </ExternalReference>
+              <ExternalReference id="95667">
+                <Source>OMIM</Source>
+                <Reference>607392</Reference>
+              </ExternalReference>
+              <ExternalReference id="95670">
+                <Source>Reactome</Source>
+                <Reference>Q9GZV5</Reference>
+              </ExternalReference>
+              <ExternalReference id="95669">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZV5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24181">
+                <GeneLocus>3q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17145">
+      <OrphaCode>157794</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157794</ExpertLink>
+      <Name lang="en">Hereditary mixed polyposis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16525031[PMID]</SourceOfValidation>
+          <Gene id="15372">
+            <Name lang="en">bone morphogenetic protein receptor type 1A</Name>
+            <Symbol>BMPR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ALK3</Synonym>
+              <Synonym lang="en">CD292</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="26201">
+                <Source>HGNC</Source>
+                <Reference>1076</Reference>
+              </ExternalReference>
+              <ExternalReference id="82788">
+                <Source>IUPHAR</Source>
+                <Reference>1786</Reference>
+              </ExternalReference>
+              <ExternalReference id="26200">
+                <Source>OMIM</Source>
+                <Reference>601299</Reference>
+              </ExternalReference>
+              <ExternalReference id="57726">
+                <Source>Reactome</Source>
+                <Reference>P36894</Reference>
+              </ExternalReference>
+              <ExternalReference id="33929">
+                <Source>SwissProt</Source>
+                <Reference>P36894</Reference>
+              </ExternalReference>
+              <ExternalReference id="57725">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107779</Reference>
+              </ExternalReference>
+              <ExternalReference id="26203">
+                <Source>Genatlas</Source>
+                <Reference>BMPR1A</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23511">
+                <GeneLocus>10q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22561515[PMID]</SourceOfValidation>
+          <Gene id="21175">
+            <Name lang="en">gremlin 1, DAN family BMP antagonist</Name>
+            <Symbol>GREM1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DAND2</Synonym>
+              <Synonym lang="en">DRM</Synonym>
+              <Synonym lang="en">Gremlin</Synonym>
+              <Synonym lang="en">HMPS</Synonym>
+              <Synonym lang="en">down-regulated in mos-transformed cells</Synonym>
+              <Synonym lang="en">gremlin</Synonym>
+              <Synonym lang="en">hereditary mixed polyposis syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143849">
+                <Source>Reactome</Source>
+                <Reference>O60565</Reference>
+              </ExternalReference>
+              <ExternalReference id="83404">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166923</Reference>
+              </ExternalReference>
+              <ExternalReference id="69718">
+                <Source>Genatlas</Source>
+                <Reference>GREM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="69716">
+                <Source>HGNC</Source>
+                <Reference>2001</Reference>
+              </ExternalReference>
+              <ExternalReference id="69717">
+                <Source>OMIM</Source>
+                <Reference>603054</Reference>
+              </ExternalReference>
+              <ExternalReference id="69719">
+                <Source>SwissProt</Source>
+                <Reference>O60565</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39163">
+                <GeneLocus>15q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17142">
+      <OrphaCode>157769</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157769</ExpertLink>
+      <Name lang="en">Situs ambiguus</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27616478[PMID]</SourceOfValidation>
+          <Gene id="25071">
+            <Name lang="en">polycystin 1 like 1, transient receptor potential channel interacting</Name>
+            <Symbol>PKD1L1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PRO19563</Synonym>
+              <Synonym lang="en">polycystin-1L1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="134778">
+                <Source>Genatlas</Source>
+                <Reference>PKD1L1</Reference>
+              </ExternalReference>
+              <ExternalReference id="134779">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDX9</Reference>
+              </ExternalReference>
+              <ExternalReference id="134780">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158683</Reference>
+              </ExternalReference>
+              <ExternalReference id="134776">
+                <Source>HGNC</Source>
+                <Reference>18053</Reference>
+              </ExternalReference>
+              <ExternalReference id="134777">
+                <Source>OMIM</Source>
+                <Reference>609721</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35703">
+                <GeneLocus>7p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15745">
+            <Name lang="en">Zic family member 3</Name>
+            <Symbol>ZIC3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HTX</Synonym>
+              <Synonym lang="en">ZNF203</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60102">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156925</Reference>
+              </ExternalReference>
+              <ExternalReference id="27985">
+                <Source>Genatlas</Source>
+                <Reference>ZIC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27987">
+                <Source>HGNC</Source>
+                <Reference>12874</Reference>
+              </ExternalReference>
+              <ExternalReference id="27986">
+                <Source>OMIM</Source>
+                <Reference>300265</Reference>
+              </ExternalReference>
+              <ExternalReference id="87973">
+                <Source>Reactome</Source>
+                <Reference>O60481</Reference>
+              </ExternalReference>
+              <ExternalReference id="32717">
+                <Source>SwissProt</Source>
+                <Reference>O60481</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23297">
+                <GeneLocus>Xq26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17416">
+            <Name lang="en">activin A receptor type 2B</Name>
+            <Symbol>ACVR2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ActR-IIB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114739</Reference>
+              </ExternalReference>
+              <ExternalReference id="37646">
+                <Source>Genatlas</Source>
+                <Reference>ACVR2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="37648">
+                <Source>HGNC</Source>
+                <Reference>174</Reference>
+              </ExternalReference>
+              <ExternalReference id="83091">
+                <Source>IUPHAR</Source>
+                <Reference>1792</Reference>
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+              <ExternalReference id="37647">
+                <Source>OMIM</Source>
+                <Reference>602730</Reference>
+              </ExternalReference>
+              <ExternalReference id="60099">
+                <Source>Reactome</Source>
+                <Reference>Q13705</Reference>
+              </ExternalReference>
+              <ExternalReference id="37649">
+                <Source>SwissProt</Source>
+                <Reference>Q13705</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21803">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17737">
+            <Name lang="en">left-right determination factor 2</Name>
+            <Symbol>LEFTY2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LEFTA</Synonym>
+              <Synonym lang="en">LEFTYA</Synonym>
+              <Synonym lang="en">transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="39356">
+                <Source>OMIM</Source>
+                <Reference>601877</Reference>
+              </ExternalReference>
+              <ExternalReference id="60101">
+                <Source>Reactome</Source>
+                <Reference>O00292</Reference>
+              </ExternalReference>
+              <ExternalReference id="39357">
+                <Source>SwissProt</Source>
+                <Reference>O00292</Reference>
+              </ExternalReference>
+              <ExternalReference id="60100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143768</Reference>
+              </ExternalReference>
+              <ExternalReference id="39354">
+                <Source>Genatlas</Source>
+                <Reference>LEFTY2</Reference>
+              </ExternalReference>
+              <ExternalReference id="39355">
+                <Source>HGNC</Source>
+                <Reference>3122</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21613">
+                <GeneLocus>1q42.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9354794[PMID]</SourceOfValidation>
+          <Gene id="20553">
+            <Name lang="en">nodal growth differentiation factor</Name>
+            <Symbol>NODAL</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59736">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156574</Reference>
+              </ExternalReference>
+              <ExternalReference id="54370">
+                <Source>Genatlas</Source>
+                <Reference>NODAL</Reference>
+              </ExternalReference>
+              <ExternalReference id="54368">
+                <Source>HGNC</Source>
+                <Reference>7865</Reference>
+              </ExternalReference>
+              <ExternalReference id="54369">
+                <Source>OMIM</Source>
+                <Reference>601265</Reference>
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+              <ExternalReference id="59737">
+                <Source>Reactome</Source>
+                <Reference>Q96S42</Reference>
+              </ExternalReference>
+              <ExternalReference id="54371">
+                <Source>SwissProt</Source>
+                <Reference>Q96S42</Reference>
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+            <LocusList count="1">
+              <Locus id="11637">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22577226[PMID]</SourceOfValidation>
+          <Gene id="21203">
+            <Name lang="en">cilia and flagella associated protein 53</Name>
+            <Symbol>CFAP53</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ32743</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143843">
+                <Source>Reactome</Source>
+                <Reference>Q96M91</Reference>
+              </ExternalReference>
+              <ExternalReference id="83447">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172361</Reference>
+              </ExternalReference>
+              <ExternalReference id="70362">
+                <Source>Genatlas</Source>
+                <Reference>CCDC11</Reference>
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+              <ExternalReference id="70360">
+                <Source>HGNC</Source>
+                <Reference>26530</Reference>
+              </ExternalReference>
+              <ExternalReference id="70361">
+                <Source>OMIM</Source>
+                <Reference>614759</Reference>
+              </ExternalReference>
+              <ExternalReference id="70363">
+                <Source>SwissProt</Source>
+                <Reference>Q96M91</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="39151">
+                <GeneLocus>18q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26437029[PMID]</SourceOfValidation>
+          <Gene id="23522">
+            <Name lang="en">matrix metallopeptidase 21</Name>
+            <Symbol>MMP21</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97835">
+                <Source>HGNC</Source>
+                <Reference>14357</Reference>
+              </ExternalReference>
+              <ExternalReference id="97840">
+                <Source>IUPHAR</Source>
+                <Reference>1644</Reference>
+              </ExternalReference>
+              <ExternalReference id="97836">
+                <Source>OMIM</Source>
+                <Reference>608416</Reference>
+              </ExternalReference>
+              <ExternalReference id="97838">
+                <Source>SwissProt</Source>
+                <Reference>Q8N119</Reference>
+              </ExternalReference>
+              <ExternalReference id="97839">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154485</Reference>
+              </ExternalReference>
+              <ExternalReference id="97837">
+                <Source>Genatlas</Source>
+                <Reference>MMP21</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25975">
+                <GeneLocus>10q26.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30471718[PMID]</SourceOfValidation>
+          <Gene id="28024">
+            <Name lang="en">dynein axonemal heavy chain 9</Name>
+            <Symbol>DNAH9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DNAL1</Synonym>
+              <Synonym lang="en">DYH9</Synonym>
+              <Synonym lang="en">Dnahc9</Synonym>
+              <Synonym lang="en">HL-20</Synonym>
+              <Synonym lang="en">HL20</Synonym>
+              <Synonym lang="en">KIAA0357</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="162832">
+                <Source>HGNC</Source>
+                <Reference>2953</Reference>
+              </ExternalReference>
+              <ExternalReference id="162833">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007174</Reference>
+              </ExternalReference>
+              <ExternalReference id="162834">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYC9</Reference>
+              </ExternalReference>
+              <ExternalReference id="162835">
+                <Source>OMIM</Source>
+                <Reference>603330</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51425">
+                <GeneLocus>17p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11062482[PMID]</SourceOfValidation>
+          <Gene id="15436">
+            <Name lang="en">cripto, FRL-1, cryptic family 1</Name>
+            <Symbol>CFC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRYPTIC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57926">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136698</Reference>
+              </ExternalReference>
+              <ExternalReference id="26508">
+                <Source>Genatlas</Source>
+                <Reference>CFC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26510">
+                <Source>HGNC</Source>
+                <Reference>18292</Reference>
+              </ExternalReference>
+              <ExternalReference id="26509">
+                <Source>OMIM</Source>
+                <Reference>605194</Reference>
+              </ExternalReference>
+              <ExternalReference id="82661">
+                <Source>Reactome</Source>
+                <Reference>P0CG37</Reference>
+              </ExternalReference>
+              <ExternalReference id="82605">
+                <Source>SwissProt</Source>
+                <Reference>P0CG37</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25479">
+                <GeneLocus>2q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17140">
+      <OrphaCode>157716</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157716</ExpertLink>
+      <Name lang="en">Late infantile CACH syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]</SourceOfValidation>
+          <Gene id="15920">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit alpha</Name>
+            <Symbol>EIF2B1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF-2Balpha</Synonym>
+              <Synonym lang="en">EIF2BA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111361</Reference>
+              </ExternalReference>
+              <ExternalReference id="37009">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28813">
+                <Source>HGNC</Source>
+                <Reference>3257</Reference>
+              </ExternalReference>
+              <ExternalReference id="28812">
+                <Source>OMIM</Source>
+                <Reference>606686</Reference>
+              </ExternalReference>
+              <ExternalReference id="59936">
+                <Source>Reactome</Source>
+                <Reference>Q14232</Reference>
+              </ExternalReference>
+              <ExternalReference id="32933">
+                <Source>SwissProt</Source>
+                <Reference>Q14232</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23449">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]</SourceOfValidation>
+          <Gene id="15921">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit beta</Name>
+            <Symbol>EIF2B2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EIF-2Bbeta</Synonym>
+              <Synonym lang="en">EIF2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59937">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119718</Reference>
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+              <ExternalReference id="37010">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B2</Reference>
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+              <ExternalReference id="28817">
+                <Source>HGNC</Source>
+                <Reference>3258</Reference>
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+              <ExternalReference id="28816">
+                <Source>OMIM</Source>
+                <Reference>606454</Reference>
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+              <ExternalReference id="59938">
+                <Source>Reactome</Source>
+                <Reference>P49770</Reference>
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+              <ExternalReference id="32934">
+                <Source>SwissProt</Source>
+                <Reference>P49770</Reference>
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+            <LocusList count="1">
+              <Locus id="8303">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]</SourceOfValidation>
+          <Gene id="15922">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit gamma</Name>
+            <Symbol>EIF2B3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF2Bgamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32935">
+                <Source>SwissProt</Source>
+                <Reference>Q9NR50</Reference>
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+              <ExternalReference id="59939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070785</Reference>
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+              <ExternalReference id="37011">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B3</Reference>
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+              <ExternalReference id="28821">
+                <Source>HGNC</Source>
+                <Reference>3259</Reference>
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+              <ExternalReference id="28820">
+                <Source>OMIM</Source>
+                <Reference>606273</Reference>
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+              <ExternalReference id="59940">
+                <Source>Reactome</Source>
+                <Reference>Q9NR50</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1p34.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]</SourceOfValidation>
+          <Gene id="15923">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit delta</Name>
+            <Symbol>EIF2B4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP586J0119</Synonym>
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF2B</Synonym>
+              <Synonym lang="en">EIF2Bdelta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000115211</Reference>
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+              <ExternalReference id="37012">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3260</Reference>
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+              <ExternalReference id="28824">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UI10</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit epsilon</Name>
+            <Symbol>EIF2B5</Symbol>
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+              <Synonym lang="en">EIF2Bepsilon</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000145191</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3261</Reference>
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+              <ExternalReference id="59944">
+                <Source>Reactome</Source>
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+                <Reference>Q13144</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157719</ExpertLink>
+      <Name lang="en">Juvenile or adult CACH syndrome</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit alpha</Name>
+            <Symbol>EIF2B1</Symbol>
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+              <Synonym lang="en">EIF-2Balpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000111361</Reference>
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+              <ExternalReference id="37009">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3257</Reference>
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+              <ExternalReference id="59936">
+                <Source>Reactome</Source>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit beta</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157713</ExpertLink>
+      <Name lang="en">Congenital or early infantile CACH syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit alpha</Name>
+            <Symbol>EIF2B1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">EIF-2Balpha</Synonym>
+              <Synonym lang="en">EIF2BA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17982426[PMID]</SourceOfValidation>
+          <Gene id="16990">
+            <Name lang="en">MAF bZIP transcription factor</Name>
+            <Symbol>MAF</Symbol>
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+              <Synonym lang="en">c-MAF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000178573</Reference>
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+              <ExternalReference id="35936">
+                <Source>Genatlas</Source>
+                <Reference>MAF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6776</Reference>
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+                <Reference>177075</Reference>
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+                <Reference>O75444</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17137">
+      <OrphaCode>157215</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157215</ExpertLink>
+      <Name lang="en">Hereditary hypophosphatemic rickets with hypercalciuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 34 member 3</Name>
+            <Symbol>SLC34A3</Symbol>
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+              <Synonym lang="en">FLJ38680</Synonym>
+              <Synonym lang="en">NPTIIc</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198569</Reference>
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+                <Reference>SLC34A3</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8N130</Reference>
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+                <Reference>1137</Reference>
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+              <Synonym lang="en">NPTIIa</Synonym>
+              <Synonym lang="en">Na+-phosphate cotransporter type II</Synonym>
+              <Synonym lang="en">SLC11</Synonym>
+              <Synonym lang="en">sodium/phosphate co-transporter</Synonym>
+              <Synonym lang="en">solute carrier family 17 (sodium phosphate), member 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000131183</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q06495</Reference>
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+                <Reference>Q06495</Reference>
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+    <Disorder id="1551">
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+      <Name lang="en">Camurati-Engelmann disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301335[PMID]</SourceOfValidation>
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+            <Name lang="en">transforming growth factor beta 1</Name>
+            <Symbol>TGFB1</Symbol>
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+              <Synonym lang="en">'Diaphyseal dysplasia 1, progressive'</Synonym>
+              <Synonym lang="en">CED</Synonym>
+              <Synonym lang="en">Camurati-Engelmann disease</Synonym>
+              <Synonym lang="en">TGFbeta</Synonym>
+              <Synonym lang="en">prepro-transforming growth factor beta-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105329</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TGFB1</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143951</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135409</Reference>
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+              <ExternalReference id="26873">
+                <Source>Genatlas</Source>
+                <Reference>AMHR2</Reference>
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+              <ExternalReference id="26871">
+                <Source>HGNC</Source>
+                <Reference>465</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1793</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600956</Reference>
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+              <ExternalReference id="32480">
+                <Source>SwissProt</Source>
+                <Reference>Q16671</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q16671</Reference>
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+                <GeneLocus>12q13.13</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1777">
+      <OrphaCode>1766</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1766</ExpertLink>
+      <Name lang="en">Dysequilibrium syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21885617[PMID]</SourceOfValidation>
+          <Gene id="15709">
+            <Name lang="en">very low density lipoprotein receptor</Name>
+            <Symbol>VLDLR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CARMQ1</Synonym>
+              <Synonym lang="en">CHRMQ1</Synonym>
+              <Synonym lang="en">VLDLRCH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>12698</Reference>
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+                <Source>SwissProt</Source>
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+              <ExternalReference id="58102">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147852</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="21876">
+            <Name lang="en">WD repeat domain 81</Name>
+            <Symbol>WDR81</Symbol>
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+              <Synonym lang="en">CAMRQ2</Synonym>
+              <Synonym lang="en">FLJ33817</Synonym>
+              <Synonym lang="en">PPP1R166</Synonym>
+              <Synonym lang="en">SORF-2</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 166</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167716</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>26600</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q562E7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21812104[PMID]</SourceOfValidation>
+          <Gene id="21877">
+            <Name lang="en">carbonic anhydrase 8</Name>
+            <Symbol>CA8</Symbol>
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+              <Synonym lang="en">CARP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000178538</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>P35219</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ATPase phospholipid transporting 8A2</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">tubulin beta 2B class IIb</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Reference>1119</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60141">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1789">
+      <OrphaCode>1788</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1788</ExpertLink>
+      <Name lang="en">Acrofacial dysostosis, Rodríguez type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27642715[PMID]</SourceOfValidation>
+          <Gene id="21159">
+            <Name lang="en">splicing factor 3b subunit 4</Name>
+            <Symbol>SF3B4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Hsh49</Synonym>
+              <Synonym lang="en">SAP49</Synonym>
+              <Synonym lang="en">SF3b49</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83383">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143368</Reference>
+              </ExternalReference>
+              <ExternalReference id="69536">
+                <Source>Genatlas</Source>
+                <Reference>SF3B4</Reference>
+              </ExternalReference>
+              <ExternalReference id="69534">
+                <Source>HGNC</Source>
+                <Reference>10771</Reference>
+              </ExternalReference>
+              <ExternalReference id="69535">
+                <Source>OMIM</Source>
+                <Reference>605593</Reference>
+              </ExternalReference>
+              <ExternalReference id="83382">
+                <Source>Reactome</Source>
+                <Reference>Q15427</Reference>
+              </ExternalReference>
+              <ExternalReference id="69537">
+                <Source>SwissProt</Source>
+                <Reference>Q15427</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q21.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1729">
+      <OrphaCode>859</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=859</ExpertLink>
+      <Name lang="en">Transcobalamin deficiency</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20607612[PMID]</SourceOfValidation>
+          <Gene id="15594">
+            <Name lang="en">transcobalamin 2</Name>
+            <Symbol>TCN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">D22S676</Synonym>
+              <Synonym lang="en">D22S750</Synonym>
+              <Synonym lang="en">TC2</Synonym>
+              <Synonym lang="en">macrocytic anemia</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="69610">
+                <Source>OMIM</Source>
+                <Reference>613441</Reference>
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+              <ExternalReference id="82829">
+                <Source>Reactome</Source>
+                <Reference>P20062</Reference>
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+              <ExternalReference id="32565">
+                <Source>SwissProt</Source>
+                <Reference>P20062</Reference>
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+              <ExternalReference id="58091">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185339</Reference>
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+              <ExternalReference id="27279">
+                <Source>Genatlas</Source>
+                <Reference>TCN2</Reference>
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+              <ExternalReference id="27277">
+                <Source>HGNC</Source>
+                <Reference>11653</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16896">
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+      <Name lang="en">Hypomyelination with atrophy of basal ganglia and cerebellum</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23582646[PMID]</SourceOfValidation>
+          <Gene id="21207">
+            <Name lang="en">tubulin beta 4A class IVa</Name>
+            <Symbol>TUBB4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Class IVa beta-tubulin</Synonym>
+              <Synonym lang="en">beta-5</Synonym>
+              <Synonym lang="en">class IVa beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104833</Reference>
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+              <ExternalReference id="100009">
+                <Source>Genatlas</Source>
+                <Reference>TUBB4A</Reference>
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+              <ExternalReference id="75304">
+                <Source>HGNC</Source>
+                <Reference>20774</Reference>
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+              <ExternalReference id="75305">
+                <Source>OMIM</Source>
+                <Reference>602662</Reference>
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+              <ExternalReference id="83453">
+                <Source>Reactome</Source>
+                <Reference>P04350</Reference>
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+              <ExternalReference id="75307">
+                <Source>SwissProt</Source>
+                <Reference>P04350</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28931644[PMID]</SourceOfValidation>
+          <Gene id="25015">
+            <Name lang="en">ubiquitin fold modifier 1</Name>
+            <Symbol>UFM1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="133779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120686</Reference>
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+              <ExternalReference id="133279">
+                <Source>SwissProt</Source>
+                <Reference>P61960</Reference>
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+              <ExternalReference id="131832">
+                <Source>HGNC</Source>
+                <Reference>20597</Reference>
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+              <ExternalReference id="132551">
+                <Source>OMIM</Source>
+                <Reference>610553</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UFM1</Reference>
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+                <GeneLocus>13q13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="16898">
+      <OrphaCode>139447</OrphaCode>
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+      <Name lang="en">Progressive cavitating leukoencephalopathy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>33811136[PMID]</SourceOfValidation>
+          <Gene id="16534">
+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit V2</Name>
+            <Symbol>NDUFV2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CI-24k</Synonym>
+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 24kDa subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57219">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178127</Reference>
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+              <ExternalReference id="31747">
+                <Source>Genatlas</Source>
+                <Reference>NDUFV2</Reference>
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+              <ExternalReference id="31749">
+                <Source>HGNC</Source>
+                <Reference>7717</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600532</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P19404</Reference>
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+              <ExternalReference id="33599">
+                <Source>SwissProt</Source>
+                <Reference>P19404</Reference>
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+      <Name lang="en">Hypotrichosis with juvenile macular degeneration</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15421">
+            <Name lang="en">cadherin 3</Name>
+            <Symbol>CDH3</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">PCAD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>114021</Reference>
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+              <ExternalReference id="58094">
+                <Source>Reactome</Source>
+                <Reference>P22223</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22223</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000062038</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CDH3</Reference>
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+                <Reference>1762</Reference>
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+      <Name lang="en">Alpers-Huttenlocher syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
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+              <Synonym lang="en">POLGA</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
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+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16900">
+      <OrphaCode>139455</OrphaCode>
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+      <Name lang="en">Autosomal recessive bestrophinopathy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18179881[PMID]</SourceOfValidation>
+          <Gene id="15368">
+            <Name lang="en">bestrophin 1</Name>
+            <Symbol>BEST1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BEST</Synonym>
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">Best disease</Synonym>
+              <Synonym lang="en">RP50</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167995</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BEST1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12703</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607854</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O76090</Reference>
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+      <Name lang="en">SERKAL syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15728">
+            <Name lang="en">Wnt family member 4</Name>
+            <Symbol>WNT4</Symbol>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162552</Reference>
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+                <Reference>12783</Reference>
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+                <Reference>603490</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P56705</Reference>
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+                <Reference>P56705</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>1596</OrphaCode>
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+      <Name lang="en">Distal monosomy 15q</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>MCTP2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11175</Synonym>
+              <Synonym lang="en">FLJ33303</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84064">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140563</Reference>
+              </ExternalReference>
+              <ExternalReference id="82303">
+                <Source>Genatlas</Source>
+                <Reference>MCTP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="82302">
+                <Source>HGNC</Source>
+                <Reference>25636</Reference>
+              </ExternalReference>
+              <ExternalReference id="95481">
+                <Source>OMIM</Source>
+                <Reference>616297</Reference>
+              </ExternalReference>
+              <ExternalReference id="82304">
+                <Source>SwissProt</Source>
+                <Reference>Q6DN12</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14983">
+                <GeneLocus>15q26.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="16904">
+      <OrphaCode>139471</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139471</ExpertLink>
+      <Name lang="en">Microphthalmia with brain and digit anomalies</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18252212[PMID]</SourceOfValidation>
+          <Gene id="16937">
+            <Name lang="en">bone morphogenetic protein 4</Name>
+            <Symbol>BMP4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57137">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125378</Reference>
+              </ExternalReference>
+              <ExternalReference id="35786">
+                <Source>Genatlas</Source>
+                <Reference>BMP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="35785">
+                <Source>HGNC</Source>
+                <Reference>1071</Reference>
+              </ExternalReference>
+              <ExternalReference id="35784">
+                <Source>OMIM</Source>
+                <Reference>112262</Reference>
+              </ExternalReference>
+              <ExternalReference id="83059">
+                <Source>Reactome</Source>
+                <Reference>P12644</Reference>
+              </ExternalReference>
+              <ExternalReference id="35783">
+                <Source>SwissProt</Source>
+                <Reference>P12644</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22843">
+                <GeneLocus>14q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="16905">
+      <OrphaCode>139474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139474</ExpertLink>
+      <Name lang="en">17q11.2 microduplication syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241097[PMID]</SourceOfValidation>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196712</Reference>
+              </ExternalReference>
+              <ExternalReference id="31785">
+                <Source>Genatlas</Source>
+                <Reference>NF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31787">
+                <Source>HGNC</Source>
+                <Reference>7765</Reference>
+              </ExternalReference>
+              <ExternalReference id="46529">
+                <Source>OMIM</Source>
+                <Reference>613113</Reference>
+              </ExternalReference>
+              <ExternalReference id="97239">
+                <Source>Reactome</Source>
+                <Reference>P21359</Reference>
+              </ExternalReference>
+              <ExternalReference id="33607">
+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16725">
+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1739">
+      <OrphaCode>1617</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1617</ExpertLink>
+      <Name lang="en">2q24 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24458984[PMID]</SourceOfValidation>
+          <Gene id="24968">
+            <Name lang="en">T-box brain transcription factor 1</Name>
+            <Symbol>TBR1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="144099">
+                <Source>Genatlas</Source>
+                <Reference>TBR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="133232">
+                <Source>SwissProt</Source>
+                <Reference>Q16650</Reference>
+              </ExternalReference>
+              <ExternalReference id="132507">
+                <Source>OMIM</Source>
+                <Reference>604616</Reference>
+              </ExternalReference>
+              <ExternalReference id="131785">
+                <Source>HGNC</Source>
+                <Reference>11590</Reference>
+              </ExternalReference>
+              <ExternalReference id="133408">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136535</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39649">
+                <GeneLocus>2q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1738">
+      <OrphaCode>1606</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1606</ExpertLink>
+      <Name lang="en">1p36 deletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27087320[PMID]</SourceOfValidation>
+          <Gene id="24070">
+            <Name lang="en">arginine-glutamic acid dipeptide repeats</Name>
+            <Symbol>RERE</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ARG</Synonym>
+              <Synonym lang="en">ARP</Synonym>
+              <Synonym lang="en">ATN2</Synonym>
+              <Synonym lang="en">DNB1</Synonym>
+              <Synonym lang="en">KIAA0458</Synonym>
+              <Synonym lang="en">atrophin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143229">
+                <Source>Reactome</Source>
+                <Reference>Q9P2R6</Reference>
+              </ExternalReference>
+              <ExternalReference id="125653">
+                <Source>HGNC</Source>
+                <Reference>9965</Reference>
+              </ExternalReference>
+              <ExternalReference id="125654">
+                <Source>OMIM</Source>
+                <Reference>605226</Reference>
+              </ExternalReference>
+              <ExternalReference id="125655">
+                <Source>Genatlas</Source>
+                <Reference>RERE</Reference>
+              </ExternalReference>
+              <ExternalReference id="125656">
+                <Source>SwissProt</Source>
+                <Reference>Q9P2R6</Reference>
+              </ExternalReference>
+              <ExternalReference id="125657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142599</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38173">
+                <GeneLocus>1p36.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24454898[PMID]</SourceOfValidation>
+          <Gene id="30554">
+            <Name lang="en">protein kinase C zeta</Name>
+            <Symbol>PRKCZ</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKC2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="201015">
+                <Source>SwissProt</Source>
+                <Reference>Q05513</Reference>
+              </ExternalReference>
+              <ExternalReference id="190128">
+                <Source>HGNC</Source>
+                <Reference>9412</Reference>
+              </ExternalReference>
+              <ExternalReference id="190129">
+                <Source>OMIM</Source>
+                <Reference>176982</Reference>
+              </ExternalReference>
+              <ExternalReference id="190130">
+                <Source>IUPHAR</Source>
+                <Reference>1491</Reference>
+              </ExternalReference>
+              <ExternalReference id="190131">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067606</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81005">
+                <GeneLocus>1p36.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24454898[PMID]</SourceOfValidation>
+          <Gene id="30555">
+            <Name lang="en">ubiquitination factor E4B</Name>
+            <Symbol>UBE4B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">E4</Synonym>
+              <Synonym lang="en">KIAA0684</Synonym>
+              <Synonym lang="en">UBOX3</Synonym>
+              <Synonym lang="en">UFD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="201016">
+                <Source>SwissProt</Source>
+                <Reference>O95155</Reference>
+              </ExternalReference>
+              <ExternalReference id="190133">
+                <Source>HGNC</Source>
+                <Reference>12500</Reference>
+              </ExternalReference>
+              <ExternalReference id="190134">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130939</Reference>
+              </ExternalReference>
+              <ExternalReference id="191769">
+                <Source>OMIM</Source>
+                <Reference>613565</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="81007">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26345236[PMID]</SourceOfValidation>
+          <Gene id="30556">
+            <Name lang="en">matrix metallopeptidase 23B</Name>
+            <Symbol>MMP23B</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MIFR</Synonym>
+              <Synonym lang="en">MIFR-1</Synonym>
+              <Synonym lang="en">femalysin</Synonym>
+              <Synonym lang="en">matrix metalloproteinase 22</Synonym>
+              <Synonym lang="en">matrix metalloproteinase in the female reproductive tract</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="201011">
+                <Source>SwissProt</Source>
+                <Reference>O75900</Reference>
+              </ExternalReference>
+              <ExternalReference id="190136">
+                <Source>HGNC</Source>
+                <Reference>7171</Reference>
+              </ExternalReference>
+              <ExternalReference id="191754">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189409</Reference>
+              </ExternalReference>
+              <ExternalReference id="191755">
+                <Source>OMIM</Source>
+                <Reference>603321</Reference>
+              </ExternalReference>
+              <ExternalReference id="191756">
+                <Source>IUPHAR</Source>
+                <Reference>1645</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80997">
+                <GeneLocus>1p36.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22766398[PMID]</SourceOfValidation>
+          <Gene id="16090">
+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit delta</Name>
+            <Symbol>GABRD</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GABA(A) receptor, delta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58096">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187730</Reference>
+              </ExternalReference>
+              <ExternalReference id="37084">
+                <Source>Genatlas</Source>
+                <Reference>GABRD</Reference>
+              </ExternalReference>
+              <ExternalReference id="29657">
+                <Source>HGNC</Source>
+                <Reference>4084</Reference>
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+              <ExternalReference id="82925">
+                <Source>IUPHAR</Source>
+                <Reference>416</Reference>
+              </ExternalReference>
+              <ExternalReference id="29656">
+                <Source>OMIM</Source>
+                <Reference>137163</Reference>
+              </ExternalReference>
+              <ExternalReference id="33105">
+                <Source>SwissProt</Source>
+                <Reference>O14764</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25505">
+                <GeneLocus>1p36.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22766398[PMID]_12376748[PMID]</SourceOfValidation>
+          <Gene id="21427">
+            <Name lang="en">SKI proto-oncogene</Name>
+            <Symbol>SKI</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157933</Reference>
+              </ExternalReference>
+              <ExternalReference id="71704">
+                <Source>Genatlas</Source>
+                <Reference>SKI</Reference>
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+              <ExternalReference id="71702">
+                <Source>HGNC</Source>
+                <Reference>10896</Reference>
+              </ExternalReference>
+              <ExternalReference id="71703">
+                <Source>OMIM</Source>
+                <Reference>164780</Reference>
+              </ExternalReference>
+              <ExternalReference id="83491">
+                <Source>Reactome</Source>
+                <Reference>P12755</Reference>
+              </ExternalReference>
+              <ExternalReference id="71705">
+                <Source>SwissProt</Source>
+                <Reference>P12755</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22041">
+                <GeneLocus>1p36.33-p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22766398[PMID]_17633087[PMID]</SourceOfValidation>
+          <Gene id="21428">
+            <Name lang="en">potassium voltage-gated channel subfamily A regulatory beta subunit 2</Name>
+            <Symbol>KCNAB2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AKR6A5</Synonym>
+              <Synonym lang="en">HKvbeta2.1</Synonym>
+              <Synonym lang="en">HKvbeta2.2</Synonym>
+              <Synonym lang="en">KCNA2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83494">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069424</Reference>
+              </ExternalReference>
+              <ExternalReference id="71711">
+                <Source>Genatlas</Source>
+                <Reference>KCNAB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="71709">
+                <Source>HGNC</Source>
+                <Reference>6229</Reference>
+              </ExternalReference>
+              <ExternalReference id="71710">
+                <Source>OMIM</Source>
+                <Reference>601142</Reference>
+              </ExternalReference>
+              <ExternalReference id="83493">
+                <Source>Reactome</Source>
+                <Reference>Q13303</Reference>
+              </ExternalReference>
+              <ExternalReference id="71712">
+                <Source>SwissProt</Source>
+                <Reference>Q13303</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26135">
+                <GeneLocus>1p36.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768516[PMID]</SourceOfValidation>
+          <Gene id="22242">
+            <Name lang="en">PR/SET domain 16</Name>
+            <Symbol>PRDM16</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">KIAA1675</Synonym>
+              <Synonym lang="en">KMT8F</Synonym>
+              <Synonym lang="en">MDS1/EVI1-like</Synonym>
+              <Synonym lang="en">MEL1</Synonym>
+              <Synonym lang="en">MGC166915</Synonym>
+              <Synonym lang="en">PFM13</Synonym>
+              <Synonym lang="en">PR-domain zinc finger protein 16</Synonym>
+              <Synonym lang="en">Transcription factor MEL1</Synonym>
+              <Synonym lang="en">transcription factor MEL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83922">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142611</Reference>
+              </ExternalReference>
+              <ExternalReference id="80570">
+                <Source>Genatlas</Source>
+                <Reference>PRDM16</Reference>
+              </ExternalReference>
+              <ExternalReference id="80568">
+                <Source>HGNC</Source>
+                <Reference>14000</Reference>
+              </ExternalReference>
+              <ExternalReference id="80569">
+                <Source>OMIM</Source>
+                <Reference>605557</Reference>
+              </ExternalReference>
+              <ExternalReference id="97351">
+                <Source>Reactome</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="80571">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18721">
+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24454898[PMID]</SourceOfValidation>
+          <Gene id="27060">
+            <Name lang="en">castor zinc finger 1</Name>
+            <Symbol>CASZ1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FLJ20321</Synonym>
+              <Synonym lang="en">SRG</Synonym>
+              <Synonym lang="en">ZNF693</Synonym>
+              <Synonym lang="en">castor</Synonym>
+              <Synonym lang="en">cst</Synonym>
+              <Synonym lang="en">survival related gene</Synonym>
+              <Synonym lang="en">zinc finger protein 693</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="158270">
+                <Source>HGNC</Source>
+                <Reference>26002</Reference>
+              </ExternalReference>
+              <ExternalReference id="191575">
+                <Source>OMIM</Source>
+                <Reference>609895</Reference>
+              </ExternalReference>
+              <ExternalReference id="200890">
+                <Source>SwissProt</Source>
+                <Reference>Q86V15</Reference>
+              </ExternalReference>
+              <ExternalReference id="162528">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130940</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80755">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26345236[PMID]</SourceOfValidation>
+          <Gene id="26752">
+            <Name lang="en">spen family transcriptional repressor</Name>
+            <Symbol>SPEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0929</Synonym>
+              <Synonym lang="en">MINT</Synonym>
+              <Synonym lang="en">RBM15C</Synonym>
+              <Synonym lang="en">SHARP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="200750">
+                <Source>SwissProt</Source>
+                <Reference>Q96T58</Reference>
+              </ExternalReference>
+              <ExternalReference id="191279">
+                <Source>OMIM</Source>
+                <Reference>613484</Reference>
+              </ExternalReference>
+              <ExternalReference id="156544">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065526</Reference>
+              </ExternalReference>
+              <ExternalReference id="156444">
+                <Source>HGNC</Source>
+                <Reference>17575</Reference>
+              </ExternalReference>
+              <ExternalReference id="156876">
+                <Source>Genatlas</Source>
+                <Reference>SPEN</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80475">
+                <GeneLocus>1p36.21-p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26345236[PMID]</SourceOfValidation>
+          <Gene id="30557">
+            <Name lang="en">podoplanin</Name>
+            <Symbol>PDPN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GP40</Synonym>
+              <Synonym lang="en">Gp38</Synonym>
+              <Synonym lang="en">PA2.26</Synonym>
+              <Synonym lang="en">T1A-2</Synonym>
+              <Synonym lang="en">aggrus</Synonym>
+              <Synonym lang="en">lung type I cell membrane associated glycoprotein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="201012">
+                <Source>SwissProt</Source>
+                <Reference>Q86YL7</Reference>
+              </ExternalReference>
+              <ExternalReference id="190138">
+                <Source>HGNC</Source>
+                <Reference>29602</Reference>
+              </ExternalReference>
+              <ExternalReference id="191758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162493</Reference>
+              </ExternalReference>
+              <ExternalReference id="191759">
+                <Source>OMIM</Source>
+                <Reference>608863</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80999">
+                <GeneLocus>1p36.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26345236[PMID]</SourceOfValidation>
+          <Gene id="30558">
+            <Name lang="en">leucine zipper protein 1</Name>
+            <Symbol>LUZP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LUZP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="201013">
+                <Source>SwissProt</Source>
+                <Reference>Q86V48</Reference>
+              </ExternalReference>
+              <ExternalReference id="190140">
+                <Source>HGNC</Source>
+                <Reference>14985</Reference>
+              </ExternalReference>
+              <ExternalReference id="191761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169641</Reference>
+              </ExternalReference>
+              <ExternalReference id="191762">
+                <Source>OMIM</Source>
+                <Reference>601422</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81001">
+                <GeneLocus>1p36.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26345236[PMID]</SourceOfValidation>
+          <Gene id="16234">
+            <Name lang="en">heparan sulfate proteoglycan 2</Name>
+            <Symbol>HSPG2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PRCAN</Synonym>
+              <Synonym lang="en">endorepellin</Synonym>
+              <Synonym lang="en">perlecan</Synonym>
+              <Synonym lang="en">perlecan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56991">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142798</Reference>
+              </ExternalReference>
+              <ExternalReference id="30349">
+                <Source>Genatlas</Source>
+                <Reference>HSPG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30351">
+                <Source>HGNC</Source>
+                <Reference>5273</Reference>
+              </ExternalReference>
+              <ExternalReference id="30350">
+                <Source>OMIM</Source>
+                <Reference>142461</Reference>
+              </ExternalReference>
+              <ExternalReference id="56992">
+                <Source>Reactome</Source>
+                <Reference>P98160</Reference>
+              </ExternalReference>
+              <ExternalReference id="33298">
+                <Source>SwissProt</Source>
+                <Reference>P98160</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26125">
+                <GeneLocus>1p36.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33596411[PMID]</SourceOfValidation>
+          <Gene id="26752">
+            <Name lang="en">spen family transcriptional repressor</Name>
+            <Symbol>SPEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0929</Synonym>
+              <Synonym lang="en">MINT</Synonym>
+              <Synonym lang="en">RBM15C</Synonym>
+              <Synonym lang="en">SHARP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="200750">
+                <Source>SwissProt</Source>
+                <Reference>Q96T58</Reference>
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+              <ExternalReference id="191279">
+                <Source>OMIM</Source>
+                <Reference>613484</Reference>
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+              <ExternalReference id="156544">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065526</Reference>
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+              <ExternalReference id="156444">
+                <Source>HGNC</Source>
+                <Reference>17575</Reference>
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+              <ExternalReference id="156876">
+                <Source>Genatlas</Source>
+                <Reference>SPEN</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80475">
+                <GeneLocus>1p36.21-p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16907">
+      <OrphaCode>139480</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139480</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 39</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18313024[PMID]</SourceOfValidation>
+          <Gene id="17190">
+            <Name lang="en">patatin like phospholipase domain containing 6</Name>
+            <Symbol>PNPLA6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">NTE</Synonym>
+              <Synonym lang="en">SPG39</Synonym>
+              <Synonym lang="en">SWS</Synonym>
+              <Synonym lang="en">iPLA2delta</Synonym>
+              <Synonym lang="en">neuropathy target esterase</Synonym>
+              <Synonym lang="en">sws</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100313">
+                <Source>Reactome</Source>
+                <Reference>Q8IY17</Reference>
+              </ExternalReference>
+              <ExternalReference id="36231">
+                <Source>Genatlas</Source>
+                <Reference>PNPLA6</Reference>
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+              <ExternalReference id="36232">
+                <Source>HGNC</Source>
+                <Reference>16268</Reference>
+              </ExternalReference>
+              <ExternalReference id="36234">
+                <Source>OMIM</Source>
+                <Reference>603197</Reference>
+              </ExternalReference>
+              <ExternalReference id="36233">
+                <Source>SwissProt</Source>
+                <Reference>Q8IY17</Reference>
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+              <ExternalReference id="60076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000032444</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="16908">
+      <OrphaCode>139485</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139485</ExpertLink>
+      <Name lang="en">Autosomal recessive ataxia due to ubiquinone deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301317[PMID]</SourceOfValidation>
+          <Gene id="16939">
+            <Name lang="en">coenzyme Q8A</Name>
+            <Symbol>COQ8A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COQ8</Synonym>
+              <Synonym lang="en">SCAR9</Synonym>
+              <Synonym lang="en">coenzyme Q8 homolog (yeast)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="99988">
+                <Source>Genatlas</Source>
+                <Reference>ADCK3</Reference>
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+              <ExternalReference id="35793">
+                <Source>HGNC</Source>
+                <Reference>16812</Reference>
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+              <ExternalReference id="83060">
+                <Source>IUPHAR</Source>
+                <Reference>1927</Reference>
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+              <ExternalReference id="35796">
+                <Source>OMIM</Source>
+                <Reference>606980</Reference>
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+              <ExternalReference id="35795">
+                <Source>SwissProt</Source>
+                <Reference>Q8NI60</Reference>
+              </ExternalReference>
+              <ExternalReference id="60077">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163050</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8NI60</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>139491</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139491</ExpertLink>
+      <Name lang="en">Hemochromatosis type 4</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24714983[PMID]</SourceOfValidation>
+          <Gene id="15465">
+            <Name lang="en">solute carrier family 40 member 1</Name>
+            <Symbol>SLC40A1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FPN1</Synonym>
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+              <Synonym lang="en">IREG1</Synonym>
+              <Synonym lang="en">MTP1</Synonym>
+              <Synonym lang="en">ferroportin 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60082">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138449</Reference>
+              </ExternalReference>
+              <ExternalReference id="26654">
+                <Source>Genatlas</Source>
+                <Reference>SLC40A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10909</Reference>
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+              <ExternalReference id="26655">
+                <Source>OMIM</Source>
+                <Reference>604653</Reference>
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+              <ExternalReference id="60083">
+                <Source>Reactome</Source>
+                <Reference>Q9NP59</Reference>
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+              <ExternalReference id="32435">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP59</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1194</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24714983[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 40 member 1</Name>
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+              <Synonym lang="en">ferroportin 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>10909</Reference>
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+              <ExternalReference id="26655">
+                <Source>OMIM</Source>
+                <Reference>604653</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NP59</Reference>
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+                <Reference>1194</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139498</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Hemochromatosis type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301613[PMID]</SourceOfValidation>
+          <Gene id="16446">
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+            <Symbol>HFE</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">HLA-H</Synonym>
+              <Synonym lang="en">high Fe</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>613609</Reference>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 4J</Name>
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+            <Name lang="en">FIG4 phosphoinositide 5-phosphatase</Name>
+            <Symbol>FIG4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="16919">
+      <OrphaCode>139557</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139557</ExpertLink>
+      <Name lang="en">X-linked distal spinal muscular atrophy type 3</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20170900[PMID]</SourceOfValidation>
+          <Gene id="15329">
+            <Name lang="en">ATPase copper transporting alpha</Name>
+            <Symbol>ATP7A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">copper pump 1</Synonym>
+              <Synonym lang="en">copper-transporting ATPase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193549">
+                <Source>IUPHAR</Source>
+                <Reference>852</Reference>
+              </ExternalReference>
+              <ExternalReference id="57097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="25999">
+                <Source>Genatlas</Source>
+                <Reference>ATP7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25997">
+                <Source>HGNC</Source>
+                <Reference>869</Reference>
+              </ExternalReference>
+              <ExternalReference id="25996">
+                <Source>OMIM</Source>
+                <Reference>300011</Reference>
+              </ExternalReference>
+              <ExternalReference id="57098">
+                <Source>Reactome</Source>
+                <Reference>Q04656</Reference>
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+              <ExternalReference id="33886">
+                <Source>SwissProt</Source>
+                <Reference>Q04656</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>1662</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1662</ExpertLink>
+      <Name lang="en">Restrictive dermopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18470519[PMID]_19020898[PMID]</SourceOfValidation>
+          <Gene id="15747">
+            <Name lang="en">zinc metallopeptidase STE24</Name>
+            <Symbol>ZMPSTE24</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CAAX prenyl protease 1 homolog</Synonym>
+              <Synonym lang="en">FACE-1</Synonym>
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">Hutchinson-Gilford progeria syndrome</Synonym>
+              <Synonym lang="en">PRO1</Synonym>
+              <Synonym lang="en">STE24</Synonym>
+              <Synonym lang="en">Ste24p</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084073</Reference>
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+              <ExternalReference id="36518">
+                <Source>Genatlas</Source>
+                <Reference>ZMPSTE24</Reference>
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+              <ExternalReference id="27995">
+                <Source>HGNC</Source>
+                <Reference>12877</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606480</Reference>
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+              <ExternalReference id="32719">
+                <Source>SwissProt</Source>
+                <Reference>O75844</Reference>
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+              <ExternalReference id="143425">
+                <Source>Reactome</Source>
+                <Reference>O75844</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18470519[PMID]_19020898[PMID]</SourceOfValidation>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+                <Reference>6636</Reference>
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+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
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+              <ExternalReference id="33429">
+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>139552</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139552</ExpertLink>
+      <Name lang="en">Distal hereditary motor neuropathy, Jerash type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26078401[PMID]</SourceOfValidation>
+          <Gene id="20786">
+            <Name lang="en">sigma non-opioid intracellular receptor 1</Name>
+            <Symbol>SIGMAR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SR-BP1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60638">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147955</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SIGMAR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8157</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2552</Reference>
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+                <Reference>601978</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99720</Reference>
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+      <Name lang="en">X-linked hereditary sensory and autonomic neuropathy with deafness</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="19491">
+            <Name lang="en">apoptosis inducing factor mitochondria associated 1</Name>
+            <Symbol>AIFM1</Symbol>
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+                <Source>SwissProt</Source>
+                <Reference>O95831</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156709</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AIFM1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Wolcott-Rallison syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">eukaryotic translation initiation factor 2 alpha kinase 3</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZJ5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZJ5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172071</Reference>
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+            <Name lang="en">chaperonin containing TCP1 subunit 5</Name>
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+                <Source>Reactome</Source>
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+      <DisorderType id="21401">
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+                <Reference>ENSG00000183691</Reference>
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+                <Reference>Q13253</Reference>
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+              <ExternalReference id="33622">
+                <Source>SwissProt</Source>
+                <Reference>Q13253</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9487">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="16999">
+      <OrphaCode>140922</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=140922</ExpertLink>
+      <Name lang="en">Titin-related limb-girdle muscular dystrophy R10</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15672">
+            <Name lang="en">titin</Name>
+            <Symbol>TTN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMH9</Synonym>
+              <Synonym lang="en">CMPD4</Synonym>
+              <Synonym lang="en">FLJ32040</Synonym>
+              <Synonym lang="en">LGMD2J</Synonym>
+              <Synonym lang="en">MYLK5</Synonym>
+              <Synonym lang="en">TMD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57481">
+                <Source>Reactome</Source>
+                <Reference>Q8WZ42</Reference>
+              </ExternalReference>
+              <ExternalReference id="32644">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZ42</Reference>
+              </ExternalReference>
+              <ExternalReference id="57480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
+              </ExternalReference>
+              <ExternalReference id="27647">
+                <Source>Genatlas</Source>
+                <Reference>TTN</Reference>
+              </ExternalReference>
+              <ExternalReference id="27649">
+                <Source>HGNC</Source>
+                <Reference>12403</Reference>
+              </ExternalReference>
+              <ExternalReference id="82848">
+                <Source>IUPHAR</Source>
+                <Reference>2265</Reference>
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+                <Source>OMIM</Source>
+                <Reference>188840</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22269">
+                <GeneLocus>2q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1701">
+      <OrphaCode>1545</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1545</ExpertLink>
+      <Name lang="en">Crisponi syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17436252[PMID]_21370513[PMID]</SourceOfValidation>
+          <Gene id="16440">
+            <Name lang="en">cytokine receptor like factor 1</Name>
+            <Symbol>CRLF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CISS</Synonym>
+              <Synonym lang="en">CISS1</Synonym>
+              <Synonym lang="en">CLF</Synonym>
+              <Synonym lang="en">CLF-1</Synonym>
+              <Synonym lang="en">cold-induced sweating syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006016</Reference>
+              </ExternalReference>
+              <ExternalReference id="36894">
+                <Source>Genatlas</Source>
+                <Reference>CRLF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31300">
+                <Source>HGNC</Source>
+                <Reference>2364</Reference>
+              </ExternalReference>
+              <ExternalReference id="31299">
+                <Source>OMIM</Source>
+                <Reference>604237</Reference>
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+              <ExternalReference id="98071">
+                <Source>Reactome</Source>
+                <Reference>O75462</Reference>
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+              <ExternalReference id="33500">
+                <Source>SwissProt</Source>
+                <Reference>O75462</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20400119[PMID]_21370513[PMID]</SourceOfValidation>
+          <Gene id="17294">
+            <Name lang="en">cardiotrophin like cytokine factor 1</Name>
+            <Symbol>CLCF1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B-cell stimulating factor 3</Synonym>
+              <Synonym lang="en">BSF-3</Synonym>
+              <Synonym lang="en">BSF3</Synonym>
+              <Synonym lang="en">CISS2</Synonym>
+              <Synonym lang="en">CLC</Synonym>
+              <Synonym lang="en">NNT-1</Synonym>
+              <Synonym lang="en">NNT1</Synonym>
+              <Synonym lang="en">NR6</Synonym>
+              <Synonym lang="en">cold-induced sweating syndrome 2</Synonym>
+              <Synonym lang="en">novel neurotrophin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60103">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175505</Reference>
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+              <ExternalReference id="36682">
+                <Source>Genatlas</Source>
+                <Reference>CLCF1</Reference>
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+              <ExternalReference id="36683">
+                <Source>HGNC</Source>
+                <Reference>17412</Reference>
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+              <ExternalReference id="37592">
+                <Source>OMIM</Source>
+                <Reference>607672</Reference>
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+              <ExternalReference id="98074">
+                <Source>Reactome</Source>
+                <Reference>Q9UBD9</Reference>
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+              <ExternalReference id="40068">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBD9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <OrphaCode>140905</OrphaCode>
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+      <Name lang="en">Hyperlipidemia due to hepatic triacylglycerol lipase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>1301939[PMID]</SourceOfValidation>
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+            <Name lang="en">lipase C, hepatic type</Name>
+            <Symbol>LIPC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HL</Synonym>
+              <Synonym lang="en">HTGL</Synonym>
+              <Synonym lang="en">Triacylglycerol lipase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60086">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166035</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LIPC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6619</Reference>
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+                <Source>OMIM</Source>
+                <Reference>151670</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P11150</Reference>
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+      <Name lang="en">Jackson-Weiss syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301628[PMID]_21438135[PMID]</SourceOfValidation>
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+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
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+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000066468</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>3689</Reference>
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+                <Reference>1809</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+      <Name lang="en">Brachydactyly type B2</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>CCNQ</Symbol>
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+              <Synonym lang="en">CycM</Synonym>
+              <Synonym lang="en">cyclin M</Synonym>
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+      <Name lang="en">Autosomal dominant macrothrombocytopenia</Name>
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+            <Name lang="en">glycoprotein Ib platelet subunit alpha</Name>
+            <Symbol>GP1BA</Symbol>
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+              <Synonym lang="en">GPIbalpha</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib alpha chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">transient receptor potential cation channel subfamily M member 7</Name>
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+                <Reference>ENSG00000092439</Reference>
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+                <Reference>499</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96QT4</Reference>
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+          <SourceOfValidation>23927492[PMID]</SourceOfValidation>
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+            <Symbol>GFI1B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ZNF163B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="85389">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165702</Reference>
+              </ExternalReference>
+              <ExternalReference id="85350">
+                <Source>Genatlas</Source>
+                <Reference>GFI1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="85348">
+                <Source>HGNC</Source>
+                <Reference>4238</Reference>
+              </ExternalReference>
+              <ExternalReference id="85349">
+                <Source>OMIM</Source>
+                <Reference>604383</Reference>
+              </ExternalReference>
+              <ExternalReference id="85351">
+                <Source>SwissProt</Source>
+                <Reference>Q5VTD9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143519">
+                <Source>Reactome</Source>
+                <Reference>Q5VTD9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38735">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28064200[PMID]</SourceOfValidation>
+          <Gene id="16158">
+            <Name lang="en">glycoprotein Ib platelet subunit beta</Name>
+            <Symbol>GP1BB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD42c</Synonym>
+              <Synonym lang="en">GPIbbeta</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib beta chain</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203618</Reference>
+              </ExternalReference>
+              <ExternalReference id="29988">
+                <Source>Genatlas</Source>
+                <Reference>GP1BB</Reference>
+              </ExternalReference>
+              <ExternalReference id="29990">
+                <Source>HGNC</Source>
+                <Reference>4440</Reference>
+              </ExternalReference>
+              <ExternalReference id="29989">
+                <Source>OMIM</Source>
+                <Reference>138720</Reference>
+              </ExternalReference>
+              <ExternalReference id="57694">
+                <Source>Reactome</Source>
+                <Reference>P13224</Reference>
+              </ExternalReference>
+              <ExternalReference id="33177">
+                <Source>SwissProt</Source>
+                <Reference>P13224</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21847">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28134622[PMID]</SourceOfValidation>
+          <Gene id="22225">
+            <Name lang="en">tropomyosin 4</Name>
+            <Symbol>TPM4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83900">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167460</Reference>
+              </ExternalReference>
+              <ExternalReference id="80151">
+                <Source>Genatlas</Source>
+                <Reference>TPM4</Reference>
+              </ExternalReference>
+              <ExternalReference id="80149">
+                <Source>HGNC</Source>
+                <Reference>12013</Reference>
+              </ExternalReference>
+              <ExternalReference id="80150">
+                <Source>OMIM</Source>
+                <Reference>600317</Reference>
+              </ExternalReference>
+              <ExternalReference id="83899">
+                <Source>Reactome</Source>
+                <Reference>P67936</Reference>
+              </ExternalReference>
+              <ExternalReference id="80152">
+                <Source>SwissProt</Source>
+                <Reference>P67936</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23639">
+                <GeneLocus>19p13.12-p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21454453[PMID]</SourceOfValidation>
+          <Gene id="16271">
+            <Name lang="en">integrin subunit alpha 2b</Name>
+            <Symbol>ITGA2B</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD41</Synonym>
+              <Synonym lang="en">CD41B</Synonym>
+              <Synonym lang="en">PPP1R93</Synonym>
+              <Synonym lang="en">platelet glycoprotein IIb of IIb/IIIa complex</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 93</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58589">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005961</Reference>
+              </ExternalReference>
+              <ExternalReference id="30522">
+                <Source>Genatlas</Source>
+                <Reference>ITGA2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="30520">
+                <Source>HGNC</Source>
+                <Reference>6138</Reference>
+              </ExternalReference>
+              <ExternalReference id="30519">
+                <Source>OMIM</Source>
+                <Reference>607759</Reference>
+              </ExternalReference>
+              <ExternalReference id="58590">
+                <Source>Reactome</Source>
+                <Reference>P08514</Reference>
+              </ExternalReference>
+              <ExternalReference id="33336">
+                <Source>SwissProt</Source>
+                <Reference>P08514</Reference>
+              </ExternalReference>
+              <ExternalReference id="193577">
+                <Source>IUPHAR</Source>
+                <Reference>2441</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66563">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18065693[PMID]_19336737[PMID]</SourceOfValidation>
+          <Gene id="16274">
+            <Name lang="en">integrin subunit beta 3</Name>
+            <Symbol>ITGB3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CD61</Synonym>
+              <Synonym lang="en">GPIIIa</Synonym>
+              <Synonym lang="en">antigen CD61</Synonym>
+              <Synonym lang="en">platelet glycoprotein IIIa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58591">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000259207</Reference>
+              </ExternalReference>
+              <ExternalReference id="30534">
+                <Source>Genatlas</Source>
+                <Reference>ITGB3</Reference>
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+              <ExternalReference id="30536">
+                <Source>HGNC</Source>
+                <Reference>6156</Reference>
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+              <ExternalReference id="30535">
+                <Source>OMIM</Source>
+                <Reference>173470</Reference>
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+              <ExternalReference id="58592">
+                <Source>Reactome</Source>
+                <Reference>P05106</Reference>
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+              <ExternalReference id="33339">
+                <Source>SwissProt</Source>
+                <Reference>P05106</Reference>
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+              <ExternalReference id="193581">
+                <Source>IUPHAR</Source>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18849486[PMID]</SourceOfValidation>
+          <Gene id="20427">
+            <Name lang="en">tubulin beta 1 class VI</Name>
+            <Symbol>TUBB1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Class VI beta-tubulin</Synonym>
+              <Synonym lang="en">class VI beta-tubulin</Synonym>
+              <Synonym lang="en">dJ543J19.4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60091">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101162</Reference>
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+              <ExternalReference id="54023">
+                <Source>Genatlas</Source>
+                <Reference>TUBB1</Reference>
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+              <ExternalReference id="54021">
+                <Source>HGNC</Source>
+                <Reference>16257</Reference>
+              </ExternalReference>
+              <ExternalReference id="54022">
+                <Source>OMIM</Source>
+                <Reference>612901</Reference>
+              </ExternalReference>
+              <ExternalReference id="60092">
+                <Source>Reactome</Source>
+                <Reference>Q9H4B7</Reference>
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+              <ExternalReference id="54024">
+                <Source>SwissProt</Source>
+                <Reference>Q9H4B7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23434115[PMID]</SourceOfValidation>
+          <Gene id="21974">
+            <Name lang="en">actinin alpha 1</Name>
+            <Symbol>ACTN1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83722">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072110</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTN1</Reference>
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+              <ExternalReference id="78226">
+                <Source>HGNC</Source>
+                <Reference>163</Reference>
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+              <ExternalReference id="78227">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P12814</Reference>
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+                <GeneLocus>14q24.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="17004">
+      <OrphaCode>140944</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=140944</ExpertLink>
+      <Name lang="en">CLOVES syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22658544[PMID]</SourceOfValidation>
+          <Gene id="15093">
+            <Name lang="en">phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha</Name>
+            <Symbol>PIK3CA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PI3K</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58416">
+                <Source>Reactome</Source>
+                <Reference>P42336</Reference>
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+              <ExternalReference id="32784">
+                <Source>SwissProt</Source>
+                <Reference>P42336</Reference>
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+              <ExternalReference id="58415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121879</Reference>
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+              <ExternalReference id="37315">
+                <Source>Genatlas</Source>
+                <Reference>PIK3CA</Reference>
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+              <ExternalReference id="24873">
+                <Source>HGNC</Source>
+                <Reference>8975</Reference>
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+              <ExternalReference id="82736">
+                <Source>IUPHAR</Source>
+                <Reference>2153</Reference>
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+                <Source>OMIM</Source>
+                <Reference>171834</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+      <OrphaCode>1555</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1555</ExpertLink>
+      <Name lang="en">Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301628[PMID]_21438135[PMID]</SourceOfValidation>
+          <Gene id="16664">
+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD332</Synonym>
+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066468</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGFR2</Reference>
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+                <Reference>3689</Reference>
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+                <Reference>1809</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P21802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>140941</OrphaCode>
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+      <Name lang="en">Short stature due to primary acid-labile subunit deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+            <Name lang="en">insulin like growth factor binding protein acid labile subunit</Name>
+            <Symbol>IGFALS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ALS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60088">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099769</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IGFALS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5468</Reference>
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+              <ExternalReference id="37727">
+                <Source>OMIM</Source>
+                <Reference>601489</Reference>
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+              <ExternalReference id="60089">
+                <Source>Reactome</Source>
+                <Reference>P35858</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35858</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1705">
+      <OrphaCode>1553</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1553</ExpertLink>
+      <Name lang="en">Curry-Jones syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27236920[PMID]</SourceOfValidation>
+          <Gene id="23908">
+            <Name lang="en">smoothened, frizzled class receptor</Name>
+            <Symbol>SMO</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FZD11</Synonym>
+              <Synonym lang="en">frizzled family member 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11119</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601500</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SMO</Reference>
+              </ExternalReference>
+              <ExternalReference id="103985">
+                <Source>SwissProt</Source>
+                <Reference>Q99835</Reference>
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+              <ExternalReference id="103986">
+                <Source>Reactome</Source>
+                <Reference>Q99835</Reference>
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+              <ExternalReference id="103987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128602</Reference>
+              </ExternalReference>
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+                <Source>IUPHAR</Source>
+                <Reference>239</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17000">
+      <OrphaCode>140927</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=140927</ExpertLink>
+      <Name lang="en">Benign familial neonatal-infantile seizures</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12243921[PMID]</SourceOfValidation>
+          <Gene id="15252">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">HBSCII</Synonym>
+              <Synonym lang="en">Nav1.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136531</Reference>
+              </ExternalReference>
+              <ExternalReference id="36262">
+                <Source>Genatlas</Source>
+                <Reference>SCN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25627">
+                <Source>HGNC</Source>
+                <Reference>10588</Reference>
+              </ExternalReference>
+              <ExternalReference id="82770">
+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
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+              <ExternalReference id="25626">
+                <Source>OMIM</Source>
+                <Reference>182390</Reference>
+              </ExternalReference>
+              <ExternalReference id="57765">
+                <Source>Reactome</Source>
+                <Reference>Q99250</Reference>
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+              <ExternalReference id="33810">
+                <Source>SwissProt</Source>
+                <Reference>Q99250</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7065">
+                <GeneLocus>2q24.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23360469[PMID]</SourceOfValidation>
+          <Gene id="16296">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 2</Name>
+            <Symbol>KCNQ2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BFNC</Synonym>
+              <Synonym lang="en">ENB1</Synonym>
+              <Synonym lang="en">HNSPC</Synonym>
+              <Synonym lang="en">KCNA11</Synonym>
+              <Synonym lang="en">Kv7.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075043</Reference>
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+              <ExternalReference id="30645">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ2</Reference>
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+              <ExternalReference id="30643">
+                <Source>HGNC</Source>
+                <Reference>6296</Reference>
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+              <ExternalReference id="82971">
+                <Source>IUPHAR</Source>
+                <Reference>561</Reference>
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+              <ExternalReference id="30642">
+                <Source>OMIM</Source>
+                <Reference>602235</Reference>
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+              <ExternalReference id="57762">
+                <Source>Reactome</Source>
+                <Reference>O43526</Reference>
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+              <ExternalReference id="33361">
+                <Source>SwissProt</Source>
+                <Reference>O43526</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9009">
+                <GeneLocus>20q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="17013">
+      <OrphaCode>140976</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=140976</ExpertLink>
+      <Name lang="en">RHYNS syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29891882[PMID]</SourceOfValidation>
+          <Gene id="15629">
+            <Name lang="en">transmembrane protein 67</Name>
+            <Symbol>TMEM67</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JBTS6</Synonym>
+              <Synonym lang="en">MGC26979</Synonym>
+              <Synonym lang="en">Meckelin</Synonym>
+              <Synonym lang="en">NPHP11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164953</Reference>
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+              <ExternalReference id="27443">
+                <Source>Genatlas</Source>
+                <Reference>TMEM67</Reference>
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+              <ExternalReference id="27445">
+                <Source>HGNC</Source>
+                <Reference>28396</Reference>
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+              <ExternalReference id="27444">
+                <Source>OMIM</Source>
+                <Reference>609884</Reference>
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+              <ExternalReference id="97187">
+                <Source>Reactome</Source>
+                <Reference>Q5HYA8</Reference>
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+              <ExternalReference id="32601">
+                <Source>SwissProt</Source>
+                <Reference>Q5HYA8</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="17012">
+      <OrphaCode>140969</OrphaCode>
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+      <Name lang="en">Saldino-Mainzer syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22503633[PMID]</SourceOfValidation>
+          <Gene id="21155">
+            <Name lang="en">intraflagellar transport 140</Name>
+            <Symbol>IFT140</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0590</Synonym>
+              <Synonym lang="en">gs114</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83376">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187535</Reference>
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+              <ExternalReference id="69514">
+                <Source>Genatlas</Source>
+                <Reference>IFT140</Reference>
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+              <ExternalReference id="69512">
+                <Source>HGNC</Source>
+                <Reference>29077</Reference>
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+              <ExternalReference id="69513">
+                <Source>OMIM</Source>
+                <Reference>614620</Reference>
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+              <ExternalReference id="97325">
+                <Source>Reactome</Source>
+                <Reference>Q96RY7</Reference>
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+              <ExternalReference id="69515">
+                <Source>SwissProt</Source>
+                <Reference>Q96RY7</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24140113[PMID]</SourceOfValidation>
+          <Gene id="22531">
+            <Name lang="en">intraflagellar transport 172</Name>
+            <Symbol>IFT172</Symbol>
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+              <Synonym lang="en">BBS20</Synonym>
+              <Synonym lang="en">NPHP17</Synonym>
+              <Synonym lang="en">SLB</Synonym>
+              <Synonym lang="en">osm-1</Synonym>
+              <Synonym lang="en">wim</Synonym>
+              <Synonym lang="en">wimple homolog</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82524">
+                <Source>OMIM</Source>
+                <Reference>607386</Reference>
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+              <ExternalReference id="97356">
+                <Source>Reactome</Source>
+                <Reference>Q9UG01</Reference>
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+              <ExternalReference id="82526">
+                <Source>SwissProt</Source>
+                <Reference>Q9UG01</Reference>
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+              <ExternalReference id="84083">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138002</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IFT172</Reference>
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+              <ExternalReference id="82523">
+                <Source>HGNC</Source>
+                <Reference>30391</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Palmoplantar keratoderma, Nagashima type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">serpin family B member 7</Name>
+            <Symbol>SERPINB7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MEGSIN</Synonym>
+              <Synonym lang="en">megsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166396</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SERPINB7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13902</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603357</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75635</Reference>
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+                <GeneLocus>18q21.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Bilateral microtia-deafness-cleft palate syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18394579[PMID]</SourceOfValidation>
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+            <Name lang="en">homeobox A2</Name>
+            <Symbol>HOXA2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43364</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105996</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HOXA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5103</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604685</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Guanidinoacetate methyltransferase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">guanidinoacetate N-methyltransferase</Name>
+            <Symbol>GAMT</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PIG2</Synonym>
+              <Synonym lang="en">TP53I2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000130005</Reference>
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+                <Reference>GAMT</Reference>
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+                <Reference>4136</Reference>
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+                <Reference>601240</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14353</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14353</Reference>
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+      <Name lang="en">Prolidase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">peptidase D</Name>
+            <Symbol>PEPD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Xaa-Pro dipeptidase</Synonym>
+              <Synonym lang="en">imidodipeptidase</Synonym>
+              <Synonym lang="en">prolidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P12955</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124299</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PEPD</Reference>
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+                <Reference>2389</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1571</ExpertLink>
+      <Name lang="en">Knobloch syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">p21 (RAC1) activated kinase 2</Name>
+            <Symbol>PAK2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000180370</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8591</Reference>
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+                <Reference>2134</Reference>
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+                <Reference>Q13177</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21862674[PMID]_15714516[PMID]</SourceOfValidation>
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+            <Name lang="en">collagen type XVIII alpha 1 chain</Name>
+            <Symbol>COL18A1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000182287</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ectopic P-granules 5 autophagy tethering factor</Name>
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+            <LocusList count="1">
+              <Locus id="11905">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1686">
+      <OrphaCode>1519</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1519</ExpertLink>
+      <Name lang="en">SPECC1L-related hypertelorism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26111080[PMID]</SourceOfValidation>
+          <Gene id="20299">
+            <Name lang="en">sperm antigen with calponin homology and coiled-coil domains 1 like</Name>
+            <Symbol>SPECC1L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CYTSA</Synonym>
+              <Synonym lang="en">KIAA0376</Synonym>
+              <Synonym lang="en">cytokinesis and spindle organization A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142949">
+                <Source>Reactome</Source>
+                <Reference>Q69YQ0</Reference>
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+              <ExternalReference id="60093">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100014</Reference>
+              </ExternalReference>
+              <ExternalReference id="52316">
+                <Source>Genatlas</Source>
+                <Reference>SPECC1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29022</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614140</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q69YQ0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="1687">
+      <OrphaCode>1520</OrphaCode>
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+      <Name lang="en">Craniofrontonasal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>15124102[PMID]_15166289[PMID]_15959873[PMID]</SourceOfValidation>
+          <Gene id="15916">
+            <Name lang="en">ephrin B1</Name>
+            <Symbol>EFNB1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EPH-related receptor tyrosine kinase ligand 2</Synonym>
+              <Synonym lang="en">Elk-L</Synonym>
+              <Synonym lang="en">LERK2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000090776</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EFNB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3226</Reference>
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+                <Reference>300035</Reference>
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+              <ExternalReference id="91584">
+                <Source>Reactome</Source>
+                <Reference>P98172</Reference>
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+                <Reference>P98172</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Craniodiaphyseal dysplasia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">sclerostin</Name>
+            <Symbol>SOST</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DAND6</Synonym>
+              <Synonym lang="en">VBCH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Genatlas</Source>
+                <Reference>SOST</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9BQB4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BQB4</Reference>
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+      <Name lang="en">Autosomal dominant slowed nerve conduction velocity</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Oseg6</Synonym>
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+              <Synonym lang="en">intraflagellar transport 144 homolog (Chlamydomonas)</Synonym>
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+                <Reference>ENSG00000135903</Reference>
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+                <Reference>8617</Reference>
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+              <Locus id="16739">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1689">
+      <OrphaCode>1522</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1522</ExpertLink>
+      <Name lang="en">Craniometaphyseal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>21438135[PMID]_11326338[PMID]_11326272[PMID]</SourceOfValidation>
+          <Gene id="15932">
+            <Name lang="en">ANKH inorganic pyrophosphate transport regulator</Name>
+            <Symbol>ANKH</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ANK</Synonym>
+              <Synonym lang="en">CPPDD</Synonym>
+              <Synonym lang="en">HANK</Synonym>
+              <Synonym lang="en">SLC62A1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193611">
+                <Source>IUPHAR</Source>
+                <Reference>3046</Reference>
+              </ExternalReference>
+              <ExternalReference id="58063">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154122</Reference>
+              </ExternalReference>
+              <ExternalReference id="28867">
+                <Source>Genatlas</Source>
+                <Reference>ANKH</Reference>
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+              <ExternalReference id="28865">
+                <Source>HGNC</Source>
+                <Reference>15492</Reference>
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+              <ExternalReference id="28864">
+                <Source>OMIM</Source>
+                <Reference>605145</Reference>
+              </ExternalReference>
+              <ExternalReference id="97210">
+                <Source>Reactome</Source>
+                <Reference>Q9HCJ1</Reference>
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+              <ExternalReference id="32944">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCJ1</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23951358[PMID]</SourceOfValidation>
+          <Gene id="16125">
+            <Name lang="en">gap junction protein alpha 1</Name>
+            <Symbol>GJA1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CX43</Synonym>
+              <Synonym lang="en">ODD</Synonym>
+              <Synonym lang="en">ODOD</Synonym>
+              <Synonym lang="en">SDTY3</Synonym>
+              <Synonym lang="en">connexin 43</Synonym>
+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152661</Reference>
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+              <ExternalReference id="29829">
+                <Source>Genatlas</Source>
+                <Reference>GJA1</Reference>
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+              <ExternalReference id="29827">
+                <Source>HGNC</Source>
+                <Reference>4274</Reference>
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+              <ExternalReference id="29826">
+                <Source>OMIM</Source>
+                <Reference>121014</Reference>
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+              <ExternalReference id="57354">
+                <Source>Reactome</Source>
+                <Reference>P17302</Reference>
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+              <ExternalReference id="33140">
+                <Source>SwissProt</Source>
+                <Reference>P17302</Reference>
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+              <ExternalReference id="193603">
+                <Source>IUPHAR</Source>
+                <Reference>728</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1691">
+      <OrphaCode>1525</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1525</ExpertLink>
+      <Name lang="en">Cranio-osteoarthropathy</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>18500342[PMID]_21438135[PMID]</SourceOfValidation>
+          <Gene id="17727">
+            <Name lang="en">15-hydroxyprostaglandin dehydrogenase</Name>
+            <Symbol>HPGD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">15-hydroxyprostaglandin dehydrogenase (NAD(+))</Synonym>
+              <Synonym lang="en">SDR36C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 36C, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="39258">
+                <Source>OMIM</Source>
+                <Reference>601688</Reference>
+              </ExternalReference>
+              <ExternalReference id="83114">
+                <Source>Reactome</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="39259">
+                <Source>SwissProt</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="58084">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164120</Reference>
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+              <ExternalReference id="39256">
+                <Source>Genatlas</Source>
+                <Reference>HPGD</Reference>
+              </ExternalReference>
+              <ExternalReference id="39257">
+                <Source>HGNC</Source>
+                <Reference>5154</Reference>
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+              <ExternalReference id="190362">
+                <Source>IUPHAR</Source>
+                <Reference>1384</Reference>
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+                <GeneLocus>4q34.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>1824</OrphaCode>
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+      <Name lang="en">Lowry-Wood syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29265708[PMID]</SourceOfValidation>
+          <Gene id="20137">
+            <Name lang="en">RNA, U4atac small nuclear (U12-dependent splicing)</Name>
+            <Symbol>RNU4ATAC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RNU4ATAC1</Synonym>
+              <Synonym lang="en">U4atac</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+              <ExternalReference id="95178">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000264229</Reference>
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+              <ExternalReference id="84656">
+                <Source>Genatlas</Source>
+                <Reference>RNU4ATAC</Reference>
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+              <ExternalReference id="51432">
+                <Source>HGNC</Source>
+                <Reference>34016</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601428</Reference>
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+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Spinocerebellar ataxia type 34</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24566826[PMID]</SourceOfValidation>
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+            <Name lang="en">ELOVL fatty acid elongase 4</Name>
+            <Symbol>ELOVL4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT118</Synonym>
+              <Synonym lang="en">cancer/testis antigen 118</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56903">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118402</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>14415</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605512</Reference>
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+              <ExternalReference id="56904">
+                <Source>Reactome</Source>
+                <Reference>Q9GZR5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9GZR5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2209</ExpertLink>
+      <Name lang="en">Maternal phenylketonuria</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>1915502[PMID]</SourceOfValidation>
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+            <Name lang="en">phenylalanine hydroxylase</Name>
+            <Symbol>PAH</Symbol>
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+              <Synonym lang="en">phenylalanine 4-monooxygenase</Synonym>
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+                <Source>Ensembl</Source>
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+                <Reference>1240</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">EEC syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">p73H</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Dermo-1</Synonym>
+              <Synonym lang="en">bHLHa39</Synonym>
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+                <Reference>20670</Reference>
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+    <Disorder id="1844">
+      <OrphaCode>1873</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1873</ExpertLink>
+      <Name lang="en">Jalili syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19200525[PMID]_24194943[PMID]</SourceOfValidation>
+          <Gene id="18057">
+            <Name lang="en">cyclin and CBS domain divalent metal cation transport mediator 4</Name>
+            <Symbol>CNNM4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1592</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143796">
+                <Source>Reactome</Source>
+                <Reference>Q6P4Q7</Reference>
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+              <ExternalReference id="40822">
+                <Source>OMIM</Source>
+                <Reference>607805</Reference>
+              </ExternalReference>
+              <ExternalReference id="40823">
+                <Source>SwissProt</Source>
+                <Reference>Q6P4Q7</Reference>
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+              <ExternalReference id="58124">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158158</Reference>
+              </ExternalReference>
+              <ExternalReference id="40820">
+                <Source>Genatlas</Source>
+                <Reference>CNNM4</Reference>
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+              <ExternalReference id="40821">
+                <Source>HGNC</Source>
+                <Reference>105</Reference>
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+            <LocusList count="1">
+              <Locus id="39055">
+                <GeneLocus>2q11.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1847">
+      <OrphaCode>1879</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1879</ExpertLink>
+      <Name lang="en">Melorheostosis with osteopoikilosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15489854[PMID]_17087626[PMID]</SourceOfValidation>
+          <Gene id="16349">
+            <Name lang="en">LEM domain containing 3</Name>
+            <Symbol>LEMD3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAN antigen 1</Synonym>
+              <Synonym lang="en">MAN1</Synonym>
+              <Synonym lang="en">inner nuclear membrane protein Man1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174106</Reference>
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+              <ExternalReference id="30893">
+                <Source>Genatlas</Source>
+                <Reference>LEMD3</Reference>
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+              <ExternalReference id="30891">
+                <Source>HGNC</Source>
+                <Reference>28887</Reference>
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+              <ExternalReference id="30890">
+                <Source>OMIM</Source>
+                <Reference>607844</Reference>
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+              <ExternalReference id="82979">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2U8</Reference>
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+              <ExternalReference id="33414">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2U8</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1843">
+      <OrphaCode>1872</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1872</ExpertLink>
+      <Name lang="en">Cone rod dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="30">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11857109[PMID]_23776498[PMID]</SourceOfValidation>
+          <Gene id="15226">
+            <Name lang="en">retinitis pigmentosa GTPase regulator</Name>
+            <Symbol>RPGR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CORDX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143942">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156313</Reference>
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+              <ExternalReference id="25503">
+                <Source>Genatlas</Source>
+                <Reference>RPGR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10295</Reference>
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+              <ExternalReference id="25504">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q92834</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9279751[PMID]_23563732[PMID]</SourceOfValidation>
+          <Gene id="15152">
+            <Name lang="en">peripherin 2</Name>
+            <Symbol>PRPH2</Symbol>
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+              <Synonym lang="en">CACD2</Synonym>
+              <Synonym lang="en">TSPAN22</Synonym>
+              <Synonym lang="en">rd2</Synonym>
+              <Synonym lang="en">retinal peripherin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112619</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9942</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23105016[PMID]</SourceOfValidation>
+          <Gene id="24382">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17377520[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">CORD3</Synonym>
+              <Synonym lang="en">FFM</Synonym>
+              <Synonym lang="en">Stargardt disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>IUPHAR</Source>
+                <Reference>759</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198691</Reference>
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+              <ExternalReference id="24660">
+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12659814[PMID]</SourceOfValidation>
+          <Gene id="15212">
+            <Name lang="en">regulating synaptic membrane exocytosis 1</Name>
+            <Symbol>RIMS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0340</Synonym>
+              <Synonym lang="en">RIM</Synonym>
+              <Synonym lang="en">RIM1</Synonym>
+              <Synonym lang="en">Rab3-interacting molecule</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12920076[PMID]_26992781[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">calcium voltage-gated channel subunit alpha1 F</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17033974[PMID]</SourceOfValidation>
+          <Gene id="17457">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit alpha2delta 4</Name>
+            <Symbol>CACNA2D4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58117">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151062</Reference>
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+              <ExternalReference id="38166">
+                <Source>Genatlas</Source>
+                <Reference>CACNA2D4</Reference>
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+              <ExternalReference id="38167">
+                <Source>HGNC</Source>
+                <Reference>20202</Reference>
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+              <ExternalReference id="38169">
+                <Source>OMIM</Source>
+                <Reference>608171</Reference>
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+              <ExternalReference id="98078">
+                <Source>Reactome</Source>
+                <Reference>Q7Z3S7</Reference>
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+              <ExternalReference id="38168">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3S7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19409519[PMID]</SourceOfValidation>
+          <Gene id="18458">
+            <Name lang="en">ADAM metallopeptidase domain 9</Name>
+            <Symbol>ADAM9</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA0021</Synonym>
+              <Synonym lang="en">MCMP</Synonym>
+              <Synonym lang="en">MDC9</Synonym>
+              <Synonym lang="en">Mltng</Synonym>
+              <Synonym lang="en">meltrin gamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>1657</Reference>
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+              <ExternalReference id="42387">
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+                <Source>Reactome</Source>
+                <Reference>Q13443</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168615</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ADAM9</Reference>
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+                <Reference>216</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11006213[PMID]_26992781[PMID]</SourceOfValidation>
+          <Gene id="19052">
+            <Name lang="en">unc-119 lipid binding chaperone</Name>
+            <Symbol>UNC119</Symbol>
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+              <Synonym lang="en">HRG4</Synonym>
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+              <Synonym lang="en">POC7 centriolar protein homolog A (Chlamydomonas)</Synonym>
+              <Synonym lang="en">POC7A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+              <ExternalReference id="58123">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109103</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UNC119</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12565</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604011</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13432</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13432</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23746546[PMID]</SourceOfValidation>
+          <Gene id="22239">
+            <Name lang="en">RAB28, member RAS oncogene family</Name>
+            <Symbol>RAB28</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157869</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RAB28</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9768</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P51157</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51157</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25018096[PMID]</SourceOfValidation>
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+            <Name lang="en">POC1 centriolar protein B</Name>
+            <Symbol>POC1B</Symbol>
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+              <Synonym lang="en">FLJ14923</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139323</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>9425234[PMID]_15735604[PMID]</SourceOfValidation>
+          <Gene id="16177">
+            <Name lang="en">guanylate cyclase activator 1A</Name>
+            <Symbol>GUCA1A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">COD3</Synonym>
+              <Synonym lang="en">CORD14</Synonym>
+              <Synonym lang="en">GCAP</Synonym>
+              <Synonym lang="en">GCAP1</Synonym>
+              <Synonym lang="en">cone dystrophy 3</Synonym>
+              <Synonym lang="en">dJ139D8.6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048545</Reference>
+              </ExternalReference>
+              <ExternalReference id="30080">
+                <Source>Genatlas</Source>
+                <Reference>GUCA1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="30078">
+                <Source>HGNC</Source>
+                <Reference>4678</Reference>
+              </ExternalReference>
+              <ExternalReference id="30077">
+                <Source>OMIM</Source>
+                <Reference>600364</Reference>
+              </ExternalReference>
+              <ExternalReference id="82944">
+                <Source>Reactome</Source>
+                <Reference>P43080</Reference>
+              </ExternalReference>
+              <ExternalReference id="33196">
+                <Source>SwissProt</Source>
+                <Reference>P43080</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8787">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1837">
+      <OrphaCode>1860</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1860</ExpertLink>
+      <Name lang="en">Thanatophoric dysplasia type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301540[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
+              </ExternalReference>
+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29456">
+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
+              </ExternalReference>
+              <ExternalReference id="82917">
+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
+              </ExternalReference>
+              <ExternalReference id="29455">
+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
+              </ExternalReference>
+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
+              </ExternalReference>
+              <ExternalReference id="33062">
+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8539">
+                <GeneLocus>4p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1839">
+      <OrphaCode>1865</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1865</ExpertLink>
+      <Name lang="en">Dyssegmental dysplasia, Silverman-Handmaker type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11279527[PMID]</SourceOfValidation>
+          <Gene id="16234">
+            <Name lang="en">heparan sulfate proteoglycan 2</Name>
+            <Symbol>HSPG2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PRCAN</Synonym>
+              <Synonym lang="en">endorepellin</Synonym>
+              <Synonym lang="en">perlecan</Synonym>
+              <Synonym lang="en">perlecan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56991">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142798</Reference>
+              </ExternalReference>
+              <ExternalReference id="30349">
+                <Source>Genatlas</Source>
+                <Reference>HSPG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30351">
+                <Source>HGNC</Source>
+                <Reference>5273</Reference>
+              </ExternalReference>
+              <ExternalReference id="30350">
+                <Source>OMIM</Source>
+                <Reference>142461</Reference>
+              </ExternalReference>
+              <ExternalReference id="56992">
+                <Source>Reactome</Source>
+                <Reference>P98160</Reference>
+              </ExternalReference>
+              <ExternalReference id="33298">
+                <Source>SwissProt</Source>
+                <Reference>P98160</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26125">
+                <GeneLocus>1p36.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1812">
+      <OrphaCode>1830</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1830</ExpertLink>
+      <Name lang="en">Schimke immuno-osseous dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301550[PMID]</SourceOfValidation>
+          <Gene id="15525">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1</Name>
+            <Symbol>SMARCAL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-driven annealing helicase</Synonym>
+              <Synonym lang="en">HARP</Synonym>
+              <Synonym lang="en">HHARP</Synonym>
+              <Synonym lang="en">HepA-related protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58107">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138375</Reference>
+              </ExternalReference>
+              <ExternalReference id="26950">
+                <Source>Genatlas</Source>
+                <Reference>SMARCAL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26948">
+                <Source>HGNC</Source>
+                <Reference>11102</Reference>
+              </ExternalReference>
+              <ExternalReference id="26947">
+                <Source>OMIM</Source>
+                <Reference>606622</Reference>
+              </ExternalReference>
+              <ExternalReference id="32496">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZC9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7573">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1798">
+      <OrphaCode>1802</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1802</ExpertLink>
+      <Name lang="en">Ghosal hematodiaphyseal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18264100[PMID]</SourceOfValidation>
+          <Gene id="16752">
+            <Name lang="en">thromboxane A synthase 1</Name>
+            <Symbol>TBXAS1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CYP5</Synonym>
+              <Synonym lang="en">CYP5A1</Synonym>
+              <Synonym lang="en">THAS</Synonym>
+              <Synonym lang="en">TS</Synonym>
+              <Synonym lang="en">TXAS</Synonym>
+              <Synonym lang="en">TXS</Synonym>
+              <Synonym lang="en">cytochrome P450, family 5, subfamily A, polypeptide 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58105">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000059377</Reference>
+              </ExternalReference>
+              <ExternalReference id="34845">
+                <Source>Genatlas</Source>
+                <Reference>TBXAS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="34847">
+                <Source>HGNC</Source>
+                <Reference>11609</Reference>
+              </ExternalReference>
+              <ExternalReference id="34846">
+                <Source>OMIM</Source>
+                <Reference>274180</Reference>
+              </ExternalReference>
+              <ExternalReference id="58106">
+                <Source>Reactome</Source>
+                <Reference>P24557</Reference>
+              </ExternalReference>
+              <ExternalReference id="34844">
+                <Source>SwissProt</Source>
+                <Reference>P24557</Reference>
+              </ExternalReference>
+              <ExternalReference id="190414">
+                <Source>IUPHAR</Source>
+                <Reference>1353</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="60237">
+                <GeneLocus>7q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2033">
+      <OrphaCode>2128</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2128</ExpertLink>
+      <Name lang="en">Isolated hemihyperplasia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18159214[PMID]</SourceOfValidation>
+          <Gene id="17385">
+            <Name lang="en">insulin like growth factor 2</Name>
+            <Symbol>IGF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ44734</Synonym>
+              <Synonym lang="en">IGF-II</Synonym>
+              <Synonym lang="en">preptin</Synonym>
+              <Synonym lang="en">somatomedin A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167244</Reference>
+              </ExternalReference>
+              <ExternalReference id="37170">
+                <Source>Genatlas</Source>
+                <Reference>IGF2</Reference>
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+              <ExternalReference id="37171">
+                <Source>HGNC</Source>
+                <Reference>5466</Reference>
+              </ExternalReference>
+              <ExternalReference id="37172">
+                <Source>OMIM</Source>
+                <Reference>147470</Reference>
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+              <ExternalReference id="58139">
+                <Source>Reactome</Source>
+                <Reference>P01344</Reference>
+              </ExternalReference>
+              <ExternalReference id="37173">
+                <Source>SwissProt</Source>
+                <Reference>P01344</Reference>
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+              <Locus id="13589">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15651076[PMID]_16532391[PMID]_18159214[PMID]</SourceOfValidation>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ASM</Synonym>
+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
+              </ExternalReference>
+              <ExternalReference id="37118">
+                <Source>Genatlas</Source>
+                <Reference>H19</Reference>
+              </ExternalReference>
+              <ExternalReference id="33995">
+                <Source>HGNC</Source>
+                <Reference>4713</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>103280</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15651076[PMID]_16770802[PMID]</SourceOfValidation>
+          <Gene id="16825">
+            <Name lang="en">KCNQ1 opposite strand/antisense transcript 1</Name>
+            <Symbol>KCNQ1OT1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">KCNQ1 antisense RNA 2 (non-protein coding)</Synonym>
+              <Synonym lang="en">KCNQ1 overlapping transcript 1 (non-protein coding)</Synonym>
+              <Synonym lang="en">KCNQ1-AS2</Synonym>
+              <Synonym lang="en">KvDMR1</Synonym>
+              <Synonym lang="en">KvLQT1-AS</Synonym>
+              <Synonym lang="en">LIT1</Synonym>
+              <Synonym lang="en">NCRNA00012</Synonym>
+              <Synonym lang="en">non-protein coding RNA 12</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="82599">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269821</Reference>
+              </ExternalReference>
+              <ExternalReference id="35132">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ1OT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35130">
+                <Source>HGNC</Source>
+                <Reference>6295</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>604115</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>2136</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2136</ExpertLink>
+      <Name lang="en">Hennekam syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19935664[PMID]</SourceOfValidation>
+          <Gene id="18919">
+            <Name lang="en">collagen and calcium binding EGF domains 1</Name>
+            <Symbol>CCBE1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ30681</Synonym>
+              <Synonym lang="en">KIAA1983</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58141">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183287</Reference>
+              </ExternalReference>
+              <ExternalReference id="43876">
+                <Source>Genatlas</Source>
+                <Reference>CCBE1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>29426</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612753</Reference>
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+              <ExternalReference id="43878">
+                <Source>SwissProt</Source>
+                <Reference>Q6UXH8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10909">
+                <GeneLocus>18q21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24913602[PMID]</SourceOfValidation>
+          <Gene id="22552">
+            <Name lang="en">FAT atypical cadherin 4</Name>
+            <Symbol>FAT4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CDHF14</Synonym>
+              <Synonym lang="en">CDHR11</Synonym>
+              <Synonym lang="en">FAT-J</Synonym>
+              <Synonym lang="en">cadherin-related family member 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="82712">
+                <Source>HGNC</Source>
+                <Reference>23109</Reference>
+              </ExternalReference>
+              <ExternalReference id="82713">
+                <Source>OMIM</Source>
+                <Reference>612411</Reference>
+              </ExternalReference>
+              <ExternalReference id="82715">
+                <Source>SwissProt</Source>
+                <Reference>Q6V0I7</Reference>
+              </ExternalReference>
+              <ExternalReference id="84582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196159</Reference>
+              </ExternalReference>
+              <ExternalReference id="82714">
+                <Source>Genatlas</Source>
+                <Reference>FAT4</Reference>
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+                <GeneLocus>4q28.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28985353[PMID]</SourceOfValidation>
+          <Gene id="26046">
+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 3</Name>
+            <Symbol>ADAMTS3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ADAMTS-4</Synonym>
+              <Synonym lang="en">KIAA0366</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="151252">
+                <Source>HGNC</Source>
+                <Reference>219</Reference>
+              </ExternalReference>
+              <ExternalReference id="151253">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156140</Reference>
+              </ExternalReference>
+              <ExternalReference id="151254">
+                <Source>SwissProt</Source>
+                <Reference>O15072</Reference>
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+              <ExternalReference id="190722">
+                <Source>IUPHAR</Source>
+                <Reference>1676</Reference>
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+              <ExternalReference id="151255">
+                <Source>OMIM</Source>
+                <Reference>605011</Reference>
+              </ExternalReference>
+              <ExternalReference id="151256">
+                <Source>Genatlas</Source>
+                <Reference>ADAMTS3</Reference>
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+              <ExternalReference id="151257">
+                <Source>Reactome</Source>
+                <Reference>O15072</Reference>
+              </ExternalReference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2037">
+      <OrphaCode>2138</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2138</ExpertLink>
+      <Name lang="en">46,XX ovotesticular disorder of sex development</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22051515[PMID]</SourceOfValidation>
+          <Gene id="15541">
+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125398</Reference>
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+              <ExternalReference id="27026">
+                <Source>Genatlas</Source>
+                <Reference>SOX9</Reference>
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+              <ExternalReference id="27024">
+                <Source>HGNC</Source>
+                <Reference>11204</Reference>
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+              <ExternalReference id="27023">
+                <Source>OMIM</Source>
+                <Reference>608160</Reference>
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+              <ExternalReference id="97182">
+                <Source>Reactome</Source>
+                <Reference>P48436</Reference>
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+              <ExternalReference id="32512">
+                <Source>SwissProt</Source>
+                <Reference>P48436</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>1740318[PMID]_11912443[PMID]</SourceOfValidation>
+          <Gene id="15558">
+            <Name lang="en">sex determining region Y</Name>
+            <Symbol>SRY</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TDF</Synonym>
+              <Synonym lang="en">testis-determining factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184895</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SRY</Reference>
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+              <ExternalReference id="27108">
+                <Source>HGNC</Source>
+                <Reference>11311</Reference>
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+                <Source>OMIM</Source>
+                <Reference>480000</Reference>
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+              <ExternalReference id="97183">
+                <Source>Reactome</Source>
+                <Reference>Q05066</Reference>
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+                <Reference>Q05066</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27490115[PMID]</SourceOfValidation>
+          <Gene id="17744">
+            <Name lang="en">nuclear receptor subfamily 5 group A member 1</Name>
+            <Symbol>NR5A1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AD4BP</Synonym>
+              <Synonym lang="en">ELP</Synonym>
+              <Synonym lang="en">FTZ1</Synonym>
+              <Synonym lang="en">SF-1</Synonym>
+              <Synonym lang="en">SF1</Synonym>
+              <Synonym lang="en">hSF-1</Synonym>
+              <Synonym lang="en">steroidogenic factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136931</Reference>
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+              <ExternalReference id="39474">
+                <Source>Genatlas</Source>
+                <Reference>NR5A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7983</Reference>
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+              <ExternalReference id="83118">
+                <Source>IUPHAR</Source>
+                <Reference>632</Reference>
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+                <Source>OMIM</Source>
+                <Reference>184757</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13285</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13285</Reference>
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+                <GeneLocus>9q33.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+      <Name lang="en">Donnai-Barrow syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301732[PMID]</SourceOfValidation>
+          <Gene id="17390">
+            <Name lang="en">LDL receptor related protein 2</Name>
+            <Symbol>LRP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DBS</Synonym>
+              <Synonym lang="en">Megalin</Synonym>
+              <Synonym lang="en">gp330</Synonym>
+              <Synonym lang="en">megalin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58143">
+                <Source>Reactome</Source>
+                <Reference>P98164</Reference>
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+              <ExternalReference id="37209">
+                <Source>SwissProt</Source>
+                <Reference>P98164</Reference>
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+              <ExternalReference id="58142">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081479</Reference>
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+              <ExternalReference id="37206">
+                <Source>Genatlas</Source>
+                <Reference>LRP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6694</Reference>
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+    <Disorder id="2047">
+      <OrphaCode>2148</OrphaCode>
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+      <Name lang="en">Lissencephaly type 1 due to doublecortin gene mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301364[PMID]</SourceOfValidation>
+          <Gene id="15854">
+            <Name lang="en">doublecortin</Name>
+            <Symbol>DCX</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">DC</Synonym>
+              <Synonym lang="en">LISX</Synonym>
+              <Synonym lang="en">SCLH</Synonym>
+              <Synonym lang="en">XLIS</Synonym>
+              <Synonym lang="en">doublecortex</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58144">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077279</Reference>
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+              <ExternalReference id="28506">
+                <Source>Genatlas</Source>
+                <Reference>DCX</Reference>
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+              <ExternalReference id="28504">
+                <Source>HGNC</Source>
+                <Reference>2714</Reference>
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+              <ExternalReference id="28503">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hip dysplasia, Beukes type</Name>
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+      <Name lang="en">Hartsfield syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
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+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <Name lang="en">piezo type mechanosensitive ion channel component 2</Name>
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+            <SynonymList count="5">
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+              <Synonym lang="en">FLJ23403</Synonym>
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+      <Name lang="en">Focal dermal hypoplasia</Name>
+      <DisorderType id="21401">
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+          <SourceOfValidation>19586929[PMID]</SourceOfValidation>
+          <Gene id="17296">
+            <Name lang="en">porcupine O-acyltransferase</Name>
+            <Symbol>PORCN</Symbol>
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+              <Synonym lang="en">PORC</Synonym>
+              <Synonym lang="en">PPN</Synonym>
+              <Synonym lang="en">por</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102312</Reference>
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+                <Reference>17652</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300651</Reference>
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+              <ExternalReference id="83068">
+                <Source>Reactome</Source>
+                <Reference>Q9H237</Reference>
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+              <ExternalReference id="36695">
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+                <Reference>Q9H237</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2010">
+      <OrphaCode>2098</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2098</ExpertLink>
+      <Name lang="en">Acromesomelic dysplasia, Grebe type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>24129431[PMID]</SourceOfValidation>
+          <Gene id="15373">
+            <Name lang="en">bone morphogenetic protein receptor type 1B</Name>
+            <Symbol>BMPR1B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ALK6</Synonym>
+              <Synonym lang="en">CDw293</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59687">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138696</Reference>
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+              <ExternalReference id="26205">
+                <Source>Genatlas</Source>
+                <Reference>BMPR1B</Reference>
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+              <ExternalReference id="26207">
+                <Source>HGNC</Source>
+                <Reference>1077</Reference>
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+              <ExternalReference id="82789">
+                <Source>IUPHAR</Source>
+                <Reference>1789</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603248</Reference>
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+              <ExternalReference id="59688">
+                <Source>Reactome</Source>
+                <Reference>O00238</Reference>
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+              <ExternalReference id="33930">
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+                <Reference>O00238</Reference>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16114">
+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="29775">
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+              <ExternalReference id="82927">
+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
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+              <ExternalReference id="33129">
+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+              <ExternalReference id="29774">
+                <Source>Genatlas</Source>
+                <Reference>GDF5</Reference>
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+              <ExternalReference id="29776">
+                <Source>HGNC</Source>
+                <Reference>4220</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Greig cephalopolysyndactyly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>10441342[PMID]_12794692[PMID]_20301619[PMID]_18435847[PMID]</SourceOfValidation>
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+            <Name lang="en">GLI family zinc finger 3</Name>
+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57239">
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+                <Reference>ENSG00000106571</Reference>
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+                <Reference>GLI3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P10071</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 25 member 24</Name>
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+              <Synonym lang="en">APC1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">apolipoprotein E</Name>
+            <Symbol>APOE</Symbol>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ferritin light chain</Name>
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+              <Synonym lang="en">ferritin L-chain</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Anthrax toxin receptor</Synonym>
+              <Synonym lang="en">FLJ10601</Synonym>
+              <Synonym lang="en">FLJ21776</Synonym>
+              <Synonym lang="en">TEM8</Synonym>
+              <Synonym lang="en">Tumor endothelial marker 8 precursor</Synonym>
+              <Synonym lang="en">anthrax toxin receptor</Synonym>
+              <Synonym lang="en">tumor endothelial marker 8 precursor</Synonym>
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+                <Reference>ENSG00000092094</Reference>
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+            <Symbol>TP53RK</Symbol>
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+              <Synonym lang="en">Nori-2p</Synonym>
+              <Synonym lang="en">TPRKB</Synonym>
+              <Synonym lang="en">dJ101A2.2</Synonym>
+              <Synonym lang="en">p53-related protein kinase</Synonym>
+              <Synonym lang="en">prpk</Synonym>
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+                <Reference>ENSG00000172315</Reference>
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+                <Reference>608679</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25466283[PMID]</SourceOfValidation>
+          <Gene id="23099">
+            <Name lang="en">WD repeat domain 73</Name>
+            <Symbol>WDR73</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ14888</Synonym>
+              <Synonym lang="en">HSPC264</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177082</Reference>
+              </ExternalReference>
+              <ExternalReference id="95095">
+                <Source>Genatlas</Source>
+                <Reference>WDR73</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25928</Reference>
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+              <ExternalReference id="95094">
+                <Source>OMIM</Source>
+                <Reference>616144</Reference>
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+              <ExternalReference id="95096">
+                <Source>SwissProt</Source>
+                <Reference>Q6P4I2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28280135[PMID]</SourceOfValidation>
+          <Gene id="23431">
+            <Name lang="en">nucleoporin 107</Name>
+            <Symbol>NUP107</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NUP84</Synonym>
+              <Synonym lang="en">nuclear pore complex protein Nup107</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="96874">
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+                <Reference>ENSG00000111581</Reference>
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+              <ExternalReference id="96871">
+                <Source>Genatlas</Source>
+                <Reference>NUP107</Reference>
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+              <ExternalReference id="96869">
+                <Source>HGNC</Source>
+                <Reference>29914</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607617</Reference>
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+              <ExternalReference id="96873">
+                <Source>Reactome</Source>
+                <Reference>P57740</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P57740</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28805828[PMID]</SourceOfValidation>
+          <Gene id="25839">
+            <Name lang="en">TP53RK binding protein</Name>
+            <Symbol>TPRKB</Symbol>
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+              <Synonym lang="en">CGI121</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="147612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144034</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y3C4</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608680</Reference>
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+              <ExternalReference id="147615">
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+                <Reference>TPRKB</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y3C4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28805828[PMID]</SourceOfValidation>
+          <Gene id="25840">
+            <Name lang="en">L antigen family member 3</Name>
+            <Symbol>LAGE3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CVG5</Synonym>
+              <Synonym lang="en">DNA segment on chromosome X (unique) 9879 expressed sequence</Synonym>
+              <Synonym lang="en">DXS9879E</Synonym>
+              <Synonym lang="en">DXS9951E</Synonym>
+              <Synonym lang="en">ESO3</Synonym>
+              <Synonym lang="en">ITBA2</Synonym>
+              <Synonym lang="en">Pcc1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="147619">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196976</Reference>
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+              <ExternalReference id="147620">
+                <Source>SwissProt</Source>
+                <Reference>Q14657</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300060</Reference>
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+              <ExternalReference id="147622">
+                <Source>Genatlas</Source>
+                <Reference>LAGE3</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14657</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30079490[PMID]</SourceOfValidation>
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+              <Synonym lang="en">TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">TRMT82</Synonym>
+              <Synonym lang="en">Wuho</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>12756</Reference>
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+              <ExternalReference id="133419">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160193</Reference>
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+              <ExternalReference id="133299">
+                <Source>SwissProt</Source>
+                <Reference>P57081</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605924</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P57081</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30427554[PMID]</SourceOfValidation>
+          <Gene id="27694">
+            <Name lang="en">nucleoporin 133</Name>
+            <Symbol>NUP133</Symbol>
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+              <Synonym lang="en">FLJ10814</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000069248</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WUM0</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WUM0</Reference>
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+                <Source>OMIM</Source>
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+                <Reference>18016</Reference>
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+      <Name lang="en">Huntington disease-like 1</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Oculoauricular syndrome, Schorderet type</Name>
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+                <Reference>ENSG00000120370</Reference>
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+              <ExternalReference id="41681">
+                <Source>Genatlas</Source>
+                <Reference>GORAB</Reference>
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+              <ExternalReference id="39977">
+                <Source>HGNC</Source>
+                <Reference>25676</Reference>
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+              <ExternalReference id="39978">
+                <Source>OMIM</Source>
+                <Reference>607983</Reference>
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+              <ExternalReference id="39979">
+                <Source>SwissProt</Source>
+                <Reference>Q5T7V8</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21204221[PMID]_24035636[PMID]</SourceOfValidation>
+          <Gene id="18472">
+            <Name lang="en">pyrroline-5-carboxylate reductase 1</Name>
+            <Symbol>PYCR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">P5C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58136">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183010</Reference>
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+              <ExternalReference id="42451">
+                <Source>Genatlas</Source>
+                <Reference>PYCR1</Reference>
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+              <ExternalReference id="42452">
+                <Source>HGNC</Source>
+                <Reference>9721</Reference>
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+                <Source>OMIM</Source>
+                <Reference>179035</Reference>
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+              <ExternalReference id="58137">
+                <Source>Reactome</Source>
+                <Reference>P32322</Reference>
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+              <ExternalReference id="42454">
+                <Source>SwissProt</Source>
+                <Reference>P32322</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17161">
+      <OrphaCode>157949</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157949</ExpertLink>
+      <Name lang="en">Combined immunodeficiency with granulomatosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>25312759[PMID]</SourceOfValidation>
+          <Gene id="24623">
+            <Name lang="en">INO80 complex ATPase subunit</Name>
+            <Symbol>INO80</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">INO80 complex subunit A</Synonym>
+              <Synonym lang="en">INO80A</Synonym>
+              <Synonym lang="en">KIAA1259</Synonym>
+              <Synonym lang="en">hINO80</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143297">
+                <Source>Genatlas</Source>
+                <Reference>INO80</Reference>
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+              <ExternalReference id="133531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128908</Reference>
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+              <ExternalReference id="131440">
+                <Source>HGNC</Source>
+                <Reference>26956</Reference>
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+              <ExternalReference id="134355">
+                <Source>Reactome</Source>
+                <Reference>Q9ULG1</Reference>
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+              <ExternalReference id="132172">
+                <Source>OMIM</Source>
+                <Reference>610169</Reference>
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+              <ExternalReference id="132898">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULG1</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18463379[PMID]</SourceOfValidation>
+          <Gene id="15184">
+            <Name lang="en">recombination activating 1</Name>
+            <Symbol>RAG1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MGC43321</Synonym>
+              <Synonym lang="en">RING finger protein 74</Synonym>
+              <Synonym lang="en">RNF74</Synonym>
+              <Synonym lang="en">V(D)J recombination-activating protein 1</Synonym>
+              <Synonym lang="en">recombination activating protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166349</Reference>
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+              <ExternalReference id="25311">
+                <Source>Genatlas</Source>
+                <Reference>RAG1</Reference>
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+              <ExternalReference id="25309">
+                <Source>HGNC</Source>
+                <Reference>9831</Reference>
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+              <ExternalReference id="25308">
+                <Source>OMIM</Source>
+                <Reference>179615</Reference>
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+              <ExternalReference id="97160">
+                <Source>Reactome</Source>
+                <Reference>P15918</Reference>
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+              <ExternalReference id="33708">
+                <Source>SwissProt</Source>
+                <Reference>P15918</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18463379[PMID]</SourceOfValidation>
+          <Gene id="15185">
+            <Name lang="en">recombination activating 2</Name>
+            <Symbol>RAG2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175097</Reference>
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+              <ExternalReference id="25313">
+                <Source>Genatlas</Source>
+                <Reference>RAG2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9832</Reference>
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+              <ExternalReference id="25314">
+                <Source>OMIM</Source>
+                <Reference>179616</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P55895</Reference>
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+              <ExternalReference id="33709">
+                <Source>SwissProt</Source>
+                <Reference>P55895</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17166">
+      <OrphaCode>157973</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=157973</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy due to LMNA mutation</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18551513[PMID]</SourceOfValidation>
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+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome</Name>
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+          <Gene id="16032">
+            <Name lang="en">fibrillin 1</Name>
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+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
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+              <Synonym lang="en">asprosin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165915</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC39A13</Reference>
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+                <Reference>20859</Reference>
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+      <Name lang="en">Frontometaphyseal dysplasia</Name>
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+                <Source>Genatlas</Source>
+                <Reference>MAP3K7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43318</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43318</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135341</Reference>
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+            <Symbol>FLNA</Symbol>
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+              <Synonym lang="en">alpha filamin</Synonym>
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+                <Reference>ENSG00000196924</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>P4HB</Symbol>
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+              <Synonym lang="en">GIT</Synonym>
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+              <Synonym lang="en">PROHB</Synonym>
+              <Synonym lang="en">collagen prolyl 4-hydroxylase beta</Synonym>
+              <Synonym lang="en">protein disulfide isomerase family A, member 1</Synonym>
+              <Synonym lang="en">protein disulfide isomerase-associated 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000185624</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8548</Reference>
+              </ExternalReference>
+              <ExternalReference id="95484">
+                <Source>OMIM</Source>
+                <Reference>176790</Reference>
+              </ExternalReference>
+              <ExternalReference id="95488">
+                <Source>Reactome</Source>
+                <Reference>P07237</Reference>
+              </ExternalReference>
+              <ExternalReference id="95486">
+                <Source>SwissProt</Source>
+                <Reference>P07237</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22629">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25683121[PMID]</SourceOfValidation>
+          <Gene id="23212">
+            <Name lang="en">SEC24 homolog D, COPII coat complex component</Name>
+            <Symbol>SEC24D</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0755</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95496">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150961</Reference>
+              </ExternalReference>
+              <ExternalReference id="95493">
+                <Source>Genatlas</Source>
+                <Reference>SEC24D</Reference>
+              </ExternalReference>
+              <ExternalReference id="95491">
+                <Source>HGNC</Source>
+                <Reference>10706</Reference>
+              </ExternalReference>
+              <ExternalReference id="95492">
+                <Source>OMIM</Source>
+                <Reference>607186</Reference>
+              </ExternalReference>
+              <ExternalReference id="95495">
+                <Source>Reactome</Source>
+                <Reference>O94855</Reference>
+              </ExternalReference>
+              <ExternalReference id="95494">
+                <Source>SwissProt</Source>
+                <Reference>O94855</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15011">
+                <GeneLocus>4q26</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1979">
+      <OrphaCode>2059</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2059</ExpertLink>
+      <Name lang="en">Fryns syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27038415[PMID]</SourceOfValidation>
+          <Gene id="20487">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class N</Name>
+            <Symbol>PIGN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MCD4</Synonym>
+              <Synonym lang="en">MDC4</Synonym>
+              <Synonym lang="en">PIG-N</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60566">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197563</Reference>
+              </ExternalReference>
+              <ExternalReference id="54169">
+                <Source>Genatlas</Source>
+                <Reference>PIGN</Reference>
+              </ExternalReference>
+              <ExternalReference id="54167">
+                <Source>HGNC</Source>
+                <Reference>8967</Reference>
+              </ExternalReference>
+              <ExternalReference id="54168">
+                <Source>OMIM</Source>
+                <Reference>606097</Reference>
+              </ExternalReference>
+              <ExternalReference id="60567">
+                <Source>Reactome</Source>
+                <Reference>O95427</Reference>
+              </ExternalReference>
+              <ExternalReference id="54170">
+                <Source>SwissProt</Source>
+                <Reference>O95427</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11605">
+                <GeneLocus>18q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1957">
+      <OrphaCode>2026</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2026</ExpertLink>
+      <Name lang="en">Gingival fibromatosis-hypertrichosis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24831815[PMID]</SourceOfValidation>
+          <Gene id="22951">
+            <Name lang="en">ATP binding cassette subfamily A member 5</Name>
+            <Symbol>ABCA5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EST90625</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126439">
+                <Source>Reactome</Source>
+                <Reference>Q8WWZ7</Reference>
+              </ExternalReference>
+              <ExternalReference id="91657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154265</Reference>
+              </ExternalReference>
+              <ExternalReference id="90656">
+                <Source>Genatlas</Source>
+                <Reference>ABCA5</Reference>
+              </ExternalReference>
+              <ExternalReference id="90654">
+                <Source>HGNC</Source>
+                <Reference>35</Reference>
+              </ExternalReference>
+              <ExternalReference id="90655">
+                <Source>OMIM</Source>
+                <Reference>612503</Reference>
+              </ExternalReference>
+              <ExternalReference id="90657">
+                <Source>SwissProt</Source>
+                <Reference>Q8WWZ7</Reference>
+              </ExternalReference>
+              <ExternalReference id="190594">
+                <Source>IUPHAR</Source>
+                <Reference>760</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60597">
+                <GeneLocus>17q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="1959">
+      <OrphaCode>2028</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2028</ExpertLink>
+      <Name lang="en">Juvenile hyaline fibromatosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14508707[PMID]</SourceOfValidation>
+          <Gene id="15933">
+            <Name lang="en">ANTXR cell adhesion molecule 2</Name>
+            <Symbol>ANTXR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMG-2</Synonym>
+              <Synonym lang="en">CMG2</Synonym>
+              <Synonym lang="en">FLJ31074</Synonym>
+              <Synonym lang="en">capillary morphogenesis protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58131">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163297</Reference>
+              </ExternalReference>
+              <ExternalReference id="28869">
+                <Source>Genatlas</Source>
+                <Reference>ANTXR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28871">
+                <Source>HGNC</Source>
+                <Reference>21732</Reference>
+              </ExternalReference>
+              <ExternalReference id="28870">
+                <Source>OMIM</Source>
+                <Reference>608041</Reference>
+              </ExternalReference>
+              <ExternalReference id="91585">
+                <Source>Reactome</Source>
+                <Reference>P58335</Reference>
+              </ExternalReference>
+              <ExternalReference id="32945">
+                <Source>SwissProt</Source>
+                <Reference>P58335</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25689">
+                <GeneLocus>4q21.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="1953">
+      <OrphaCode>2021</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2021</ExpertLink>
+      <Name lang="en">Fibrochondrogenesis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21035103[PMID]</SourceOfValidation>
+          <Gene id="15763">
+            <Name lang="en">collagen type XI alpha 1 chain</Name>
+            <Symbol>COL11A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CO11A1</Synonym>
+              <Synonym lang="en">STL2</Synonym>
+              <Synonym lang="en">collagen XI, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57364">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060718</Reference>
+              </ExternalReference>
+              <ExternalReference id="28070">
+                <Source>Genatlas</Source>
+                <Reference>COL11A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28072">
+                <Source>HGNC</Source>
+                <Reference>2186</Reference>
+              </ExternalReference>
+              <ExternalReference id="28071">
+                <Source>OMIM</Source>
+                <Reference>120280</Reference>
+              </ExternalReference>
+              <ExternalReference id="82862">
+                <Source>Reactome</Source>
+                <Reference>P12107</Reference>
+              </ExternalReference>
+              <ExternalReference id="32735">
+                <Source>SwissProt</Source>
+                <Reference>P12107</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p21.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22246659[PMID]</SourceOfValidation>
+          <Gene id="15764">
+            <Name lang="en">collagen type XI alpha 2 chain</Name>
+            <Symbol>COL11A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HKE5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204248</Reference>
+              </ExternalReference>
+              <ExternalReference id="28078">
+                <Source>Genatlas</Source>
+                <Reference>COL11A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28076">
+                <Source>HGNC</Source>
+                <Reference>2187</Reference>
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+              <ExternalReference id="28075">
+                <Source>OMIM</Source>
+                <Reference>120290</Reference>
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+              <ExternalReference id="82863">
+                <Source>Reactome</Source>
+                <Reference>P13942</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13942</Reference>
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+                <GeneLocus>6p21.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2024</ExpertLink>
+      <Name lang="en">Hereditary gingival fibromatosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11386754[PMID]</SourceOfValidation>
+          <Gene id="25181">
+            <Name lang="en">gingival fibromatosis, hereditary, 2</Name>
+            <Symbol>GINGF2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GGF2</Synonym>
+              <Synonym lang="en">HGF2</Synonym>
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="135477">
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+                <Reference>14252</Reference>
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+                <GeneLocus>5q13-q22</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11868160[PMID]</SourceOfValidation>
+          <Gene id="15537">
+            <Name lang="en">SOS Ras/Rac guanine nucleotide exchange factor 1</Name>
+            <Symbol>SOS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GF1</Synonym>
+              <Synonym lang="en">HGF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193644">
+                <Source>IUPHAR</Source>
+                <Reference>3096</Reference>
+              </ExternalReference>
+              <ExternalReference id="56975">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115904</Reference>
+              </ExternalReference>
+              <ExternalReference id="27002">
+                <Source>Genatlas</Source>
+                <Reference>SOS1</Reference>
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+              <ExternalReference id="27004">
+                <Source>HGNC</Source>
+                <Reference>11187</Reference>
+              </ExternalReference>
+              <ExternalReference id="27003">
+                <Source>OMIM</Source>
+                <Reference>182530</Reference>
+              </ExternalReference>
+              <ExternalReference id="56976">
+                <Source>Reactome</Source>
+                <Reference>Q07889</Reference>
+              </ExternalReference>
+              <ExternalReference id="32508">
+                <Source>SwissProt</Source>
+                <Reference>Q07889</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28686854[PMID]</SourceOfValidation>
+          <Gene id="23626">
+            <Name lang="en">RE1 silencing transcription factor</Name>
+            <Symbol>REST</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NRSF</Synonym>
+              <Synonym lang="en">XBR</Synonym>
+              <Synonym lang="en">neuron-restrictive silencer factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084093</Reference>
+              </ExternalReference>
+              <ExternalReference id="98690">
+                <Source>Genatlas</Source>
+                <Reference>REST</Reference>
+              </ExternalReference>
+              <ExternalReference id="98688">
+                <Source>HGNC</Source>
+                <Reference>9966</Reference>
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+              <ExternalReference id="98689">
+                <Source>OMIM</Source>
+                <Reference>600571</Reference>
+              </ExternalReference>
+              <ExternalReference id="98692">
+                <Source>Reactome</Source>
+                <Reference>Q13127</Reference>
+              </ExternalReference>
+              <ExternalReference id="98691">
+                <Source>SwissProt</Source>
+                <Reference>Q13127</Reference>
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+              <Locus id="18407">
+                <GeneLocus>4q12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="1966">
+      <OrphaCode>2044</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2044</ExpertLink>
+      <Name lang="en">Floating-Harbor syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22965468[PMID]</SourceOfValidation>
+          <Gene id="20811">
+            <Name lang="en">Snf2 related CREBBP activator protein</Name>
+            <Symbol>SRCAP</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DOMO1</Synonym>
+              <Synonym lang="en">Domino homolog 1 (Drosophila)</Synonym>
+              <Synonym lang="en">EAF1</Synonym>
+              <Synonym lang="en">KIAA0309</Synonym>
+              <Synonym lang="en">SWR1</Synonym>
+              <Synonym lang="en">Swi2/Snf2-related ATPase homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">domino homolog 1 (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83259">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080603</Reference>
+              </ExternalReference>
+              <ExternalReference id="61010">
+                <Source>Genatlas</Source>
+                <Reference>SRCAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="61008">
+                <Source>HGNC</Source>
+                <Reference>16974</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>611421</Reference>
+              </ExternalReference>
+              <ExternalReference id="61011">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZRS2</Reference>
+              </ExternalReference>
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+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="1962">
+      <OrphaCode>2036</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2036</ExpertLink>
+      <Name lang="en">Scalp-ear-nipple syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23541344[PMID]</SourceOfValidation>
+          <Gene id="22029">
+            <Name lang="en">potassium channel tetramerization domain containing 1</Name>
+            <Symbol>KCTD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="78724">
+                <Source>SwissProt</Source>
+                <Reference>Q719H9</Reference>
+              </ExternalReference>
+              <ExternalReference id="83778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134504</Reference>
+              </ExternalReference>
+              <ExternalReference id="78723">
+                <Source>Genatlas</Source>
+                <Reference>KCTD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="78721">
+                <Source>HGNC</Source>
+                <Reference>18249</Reference>
+              </ExternalReference>
+              <ExternalReference id="78722">
+                <Source>OMIM</Source>
+                <Reference>613420</Reference>
+              </ExternalReference>
+              <ExternalReference id="126420">
+                <Source>Reactome</Source>
+                <Reference>Q719H9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26825">
+                <GeneLocus>18q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17239">
+      <OrphaCode>158769</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158769</ExpertLink>
+      <Name lang="en">Plaque-form urticaria pigmentosa</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11505412[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
+              </ExternalReference>
+              <ExternalReference id="30699">
+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
+              </ExternalReference>
+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9033">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17238">
+      <OrphaCode>158766</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158766</ExpertLink>
+      <Name lang="en">Typical urticaria pigmentosa</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11505412[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
+              </ExternalReference>
+              <ExternalReference id="30699">
+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
+              </ExternalReference>
+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9033">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="17237">
+      <OrphaCode>158687</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158687</ExpertLink>
+      <Name lang="en">Lethal acantholytic erosive disorder</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16175511[PMID]_20302578[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
+              </ExternalReference>
+              <ExternalReference id="28695">
+                <Source>Genatlas</Source>
+                <Reference>DSP</Reference>
+              </ExternalReference>
+              <ExternalReference id="28693">
+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
+              </ExternalReference>
+              <ExternalReference id="28692">
+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
+              </ExternalReference>
+              <ExternalReference id="59099">
+                <Source>Reactome</Source>
+                <Reference>P15924</Reference>
+              </ExternalReference>
+              <ExternalReference id="32906">
+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
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+            <LocusList count="1">
+              <Locus id="8255">
+                <GeneLocus>6p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21320868[PMID]</SourceOfValidation>
+          <Gene id="16283">
+            <Name lang="en">junction plakoglobin</Name>
+            <Symbol>JUP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">DPIII</Synonym>
+              <Synonym lang="en">PDGB</Synonym>
+              <Synonym lang="en">PG</Synonym>
+              <Synonym lang="en">PKGB</Synonym>
+              <Synonym lang="en">desmosomal protein 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30580">
+                <Source>HGNC</Source>
+                <Reference>6207</Reference>
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+              <ExternalReference id="30579">
+                <Source>OMIM</Source>
+                <Reference>173325</Reference>
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+              <ExternalReference id="58983">
+                <Source>Reactome</Source>
+                <Reference>P14923</Reference>
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+              <ExternalReference id="33348">
+                <Source>SwissProt</Source>
+                <Reference>P14923</Reference>
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+              <ExternalReference id="58982">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173801</Reference>
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+              <ExternalReference id="30578">
+                <Source>Genatlas</Source>
+                <Reference>JUP</Reference>
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+            <LocusList count="1">
+              <Locus id="23633">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17236">
+      <OrphaCode>158684</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158684</ExpertLink>
+      <Name lang="en">Epidermolysis bullosa simplex with pyloric atresia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>20052759[PMID]_20301336[PMID]</SourceOfValidation>
+          <Gene id="15106">
+            <Name lang="en">plectin</Name>
+            <Symbol>PLEC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PCN</Synonym>
+              <Synonym lang="en">PLTN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58735">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178209</Reference>
+              </ExternalReference>
+              <ExternalReference id="46835">
+                <Source>Genatlas</Source>
+                <Reference>PLEC</Reference>
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+              <ExternalReference id="24936">
+                <Source>HGNC</Source>
+                <Reference>9069</Reference>
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+              <ExternalReference id="24935">
+                <Source>OMIM</Source>
+                <Reference>601282</Reference>
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+              <ExternalReference id="58736">
+                <Source>Reactome</Source>
+                <Reference>Q15149</Reference>
+              </ExternalReference>
+              <ExternalReference id="32797">
+                <Source>SwissProt</Source>
+                <Reference>Q15149</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16275">
+            <Name lang="en">integrin subunit beta 4</Name>
+            <Symbol>ITGB4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD104</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59398">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132470</Reference>
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+              <ExternalReference id="30542">
+                <Source>Genatlas</Source>
+                <Reference>ITGB4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6158</Reference>
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+              <ExternalReference id="30539">
+                <Source>OMIM</Source>
+                <Reference>147557</Reference>
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+              <ExternalReference id="59399">
+                <Source>Reactome</Source>
+                <Reference>P16144</Reference>
+              </ExternalReference>
+              <ExternalReference id="33340">
+                <Source>SwissProt</Source>
+                <Reference>P16144</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2458</Reference>
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+                <GeneLocus>17q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17235">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158681</ExpertLink>
+      <Name lang="en">Epidermolysis bullosa simplex with circinate migratory erythema</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12925204[PMID]</SourceOfValidation>
+          <Gene id="16322">
+            <Name lang="en">keratin 5</Name>
+            <Symbol>KRT5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KRT5A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59300">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186081</Reference>
+              </ExternalReference>
+              <ExternalReference id="30763">
+                <Source>Genatlas</Source>
+                <Reference>KRT5</Reference>
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+              <ExternalReference id="30765">
+                <Source>HGNC</Source>
+                <Reference>6442</Reference>
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+                <Source>OMIM</Source>
+                <Reference>148040</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13647</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13647</Reference>
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+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+      <OrphaCode>158676</OrphaCode>
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+      <Name lang="en">Localized dystrophic epidermolysis bullosa, nails only</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000114270</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+                <Reference>2214</Reference>
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+                <Reference>120120</Reference>
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+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
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+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17233">
+      <OrphaCode>158673</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158673</ExpertLink>
+      <Name lang="en">Localized dystrophic epidermolysis bullosa, acral form</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000114270</Reference>
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+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
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+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
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+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+            <LocusList count="1">
+              <Locus id="24001">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17232">
+      <OrphaCode>158668</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=158668</ExpertLink>
+      <Name lang="en">Ectodermal dysplasia-skin fragility syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19945625[PMID]</SourceOfValidation>
+          <Gene id="15103">
+            <Name lang="en">plakophilin 1</Name>
+            <Symbol>PKP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">B6P</Synonym>
+              <Synonym lang="en">ectodermal dysplasia/skin fragility syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59209">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081277</Reference>
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+              <ExternalReference id="24922">
+                <Source>Genatlas</Source>
+                <Reference>PKP1</Reference>
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+              <ExternalReference id="24920">
+                <Source>HGNC</Source>
+                <Reference>9023</Reference>
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+              <ExternalReference id="24919">
+                <Source>OMIM</Source>
+                <Reference>601975</Reference>
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+              <ExternalReference id="59210">
+                <Source>Reactome</Source>
+                <Reference>Q13835</Reference>
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+              <ExternalReference id="32794">
+                <Source>SwissProt</Source>
+                <Reference>Q13835</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="17242">
+      <OrphaCode>158778</OrphaCode>
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+      <Name lang="en">Isolated bone marrow mastocytosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
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+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
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+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
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+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>158775</OrphaCode>
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+      <Name lang="en">Smoldering systemic mastocytosis</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16308">
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+            <Symbol>KIT</Symbol>
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+              <Synonym lang="en">CD117</Synonym>
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+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
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+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="17240">
+      <OrphaCode>158772</OrphaCode>
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+      <Name lang="en">Nodular urticaria pigmentosa</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25938945[PMID]</SourceOfValidation>
+          <Gene id="23258">
+            <Name lang="en">xenotropic and polytropic retrovirus receptor 1</Name>
+            <Symbol>XPR1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">SLC53A1</Synonym>
+              <Synonym lang="en">SYG1</Synonym>
+              <Synonym lang="en">X3</Synonym>
+              <Synonym lang="en">solute carrier family 53 (phosphate exporter), member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95806">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143324</Reference>
+              </ExternalReference>
+              <ExternalReference id="95804">
+                <Source>Genatlas</Source>
+                <Reference>XPR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95802">
+                <Source>HGNC</Source>
+                <Reference>12827</Reference>
+              </ExternalReference>
+              <ExternalReference id="95803">
+                <Source>OMIM</Source>
+                <Reference>605237</Reference>
+              </ExternalReference>
+              <ExternalReference id="95805">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBH6</Reference>
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+              <ExternalReference id="190622">
+                <Source>IUPHAR</Source>
+                <Reference>3021</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60653">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="1934">
+      <OrphaCode>1997</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1997</ExpertLink>
+      <Name lang="en">Blepharo-cheilo-odontic syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28301459[PMID]</SourceOfValidation>
+          <Gene id="24444">
+            <Name lang="en">catenin delta 1</Name>
+            <Symbol>CTNND1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0384</Synonym>
+              <Synonym lang="en">p120</Synonym>
+              <Synonym lang="en">p120cas</Synonym>
+              <Synonym lang="en">p120ctn</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131261">
+                <Source>HGNC</Source>
+                <Reference>2515</Reference>
+              </ExternalReference>
+              <ExternalReference id="132004">
+                <Source>OMIM</Source>
+                <Reference>601045</Reference>
+              </ExternalReference>
+              <ExternalReference id="132720">
+                <Source>SwissProt</Source>
+                <Reference>O60716</Reference>
+              </ExternalReference>
+              <ExternalReference id="133997">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198561</Reference>
+              </ExternalReference>
+              <ExternalReference id="134242">
+                <Source>Reactome</Source>
+                <Reference>O60716</Reference>
+              </ExternalReference>
+              <ExternalReference id="143521">
+                <Source>Genatlas</Source>
+                <Reference>CTNND1</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28301459[PMID]</SourceOfValidation>
+          <Gene id="15419">
+            <Name lang="en">cadherin 1</Name>
+            <Symbol>CDH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD324</Synonym>
+              <Synonym lang="en">E-Cadherin</Synonym>
+              <Synonym lang="en">uvomorulin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000039068</Reference>
+              </ExternalReference>
+              <ExternalReference id="26429">
+                <Source>Genatlas</Source>
+                <Reference>CDH1</Reference>
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+              <ExternalReference id="26427">
+                <Source>HGNC</Source>
+                <Reference>1748</Reference>
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+              <ExternalReference id="26426">
+                <Source>OMIM</Source>
+                <Reference>192090</Reference>
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+              <ExternalReference id="58919">
+                <Source>Reactome</Source>
+                <Reference>P12830</Reference>
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+              <ExternalReference id="32387">
+                <Source>SwissProt</Source>
+                <Reference>P12830</Reference>
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+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2200">
+      <OrphaCode>2348</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2348</ExpertLink>
+      <Name lang="en">Familial partial lipodystrophy, Dunnigan type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10739751[PMID]_10587585[PMID]</SourceOfValidation>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
+              </ExternalReference>
+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+              <ExternalReference id="30962">
+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+              <ExternalReference id="30961">
+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
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+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
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+              <ExternalReference id="33429">
+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="19544">
+      <OrphaCode>247768</OrphaCode>
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+      <Name lang="en">Müllerian aplasia and hyperandrogenism</Name>
+      <DisorderType id="21401">
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+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>16959810[PMID]_18182450[PMID]</SourceOfValidation>
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+            <Name lang="en">Wnt family member 4</Name>
+            <Symbol>WNT4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">WNT-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60072">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162552</Reference>
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+              <ExternalReference id="27907">
+                <Source>Genatlas</Source>
+                <Reference>WNT4</Reference>
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+              <ExternalReference id="27909">
+                <Source>HGNC</Source>
+                <Reference>12783</Reference>
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+              <ExternalReference id="27908">
+                <Source>OMIM</Source>
+                <Reference>603490</Reference>
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+              <ExternalReference id="60073">
+                <Source>Reactome</Source>
+                <Reference>P56705</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P56705</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Schilbach-Rott syndrome</Name>
+      <DisorderType id="21401">
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">BCNS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56983">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185920</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9585</Reference>
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+                <Reference>601309</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13635</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13635</Reference>
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+      <Name lang="en">FTH1-related iron overload</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ferritin heavy chain 1</Name>
+            <Symbol>FTH1</Symbol>
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+              <Synonym lang="en">apoferritin</Synonym>
+              <Synonym lang="en">placenta immunoregulatory factor</Synonym>
+              <Synonym lang="en">proliferation-inducing protein 15</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167996</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">MUTYH-related attenuated familial adenomatous polyposis</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157911</Reference>
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+                <Reference>PEX10</Reference>
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+                <Reference>8851</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602859</Reference>
+              </ExternalReference>
+              <ExternalReference id="33742">
+                <Source>SwissProt</Source>
+                <Reference>O60683</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38019">
+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19550">
+      <OrphaCode>247806</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247806</ExpertLink>
+      <Name lang="en">APC-related attenuated familial adenomatous polyposis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17489848[PMID]</SourceOfValidation>
+          <Gene id="16443">
+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP2</Synonym>
+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
+              </ExternalReference>
+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
+              </ExternalReference>
+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
+              </ExternalReference>
+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
+              </ExternalReference>
+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
+              </ExternalReference>
+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25221">
+                <GeneLocus>5q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2207">
+      <OrphaCode>2363</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2363</ExpertLink>
+      <Name lang="en">Lacrimoauriculodentodigital syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16630169[PMID]</SourceOfValidation>
+          <Gene id="16043">
+            <Name lang="en">fibroblast growth factor 10</Name>
+            <Symbol>FGF10</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58191">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070193</Reference>
+              </ExternalReference>
+              <ExternalReference id="29415">
+                <Source>Genatlas</Source>
+                <Reference>FGF10</Reference>
+              </ExternalReference>
+              <ExternalReference id="29417">
+                <Source>HGNC</Source>
+                <Reference>3666</Reference>
+              </ExternalReference>
+              <ExternalReference id="29416">
+                <Source>OMIM</Source>
+                <Reference>602115</Reference>
+              </ExternalReference>
+              <ExternalReference id="58192">
+                <Source>Reactome</Source>
+                <Reference>O15520</Reference>
+              </ExternalReference>
+              <ExternalReference id="33057">
+                <Source>SwissProt</Source>
+                <Reference>O15520</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20585">
+                <GeneLocus>5p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16501574[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
+              </ExternalReference>
+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29456">
+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
+              </ExternalReference>
+              <ExternalReference id="82917">
+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
+              </ExternalReference>
+              <ExternalReference id="29455">
+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
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+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
+              </ExternalReference>
+              <ExternalReference id="33062">
+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8539">
+                <GeneLocus>4p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16501574[PMID]</SourceOfValidation>
+          <Gene id="16664">
+            <Name lang="en">fibroblast growth factor receptor 2</Name>
+            <Symbol>FGFR2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD332</Synonym>
+              <Synonym lang="en">CEK3</Synonym>
+              <Synonym lang="en">Crouzon syndrome</Synonym>
+              <Synonym lang="en">ECT1</Synonym>
+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+              <Synonym lang="en">TK14</Synonym>
+              <Synonym lang="en">TK25</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066468</Reference>
+              </ExternalReference>
+              <ExternalReference id="33991">
+                <Source>Genatlas</Source>
+                <Reference>FGFR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="33993">
+                <Source>HGNC</Source>
+                <Reference>3689</Reference>
+              </ExternalReference>
+              <ExternalReference id="83025">
+                <Source>IUPHAR</Source>
+                <Reference>1809</Reference>
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+              <ExternalReference id="33992">
+                <Source>OMIM</Source>
+                <Reference>176943</Reference>
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+              <ExternalReference id="57038">
+                <Source>Reactome</Source>
+                <Reference>P21802</Reference>
+              </ExternalReference>
+              <ExternalReference id="33994">
+                <Source>SwissProt</Source>
+                <Reference>P21802</Reference>
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+            <LocusList count="1">
+              <Locus id="23287">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19537">
+      <OrphaCode>247691</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247691</ExpertLink>
+      <Name lang="en">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17660820[PMID]_18583934[PMID]_20876473[PMID]</SourceOfValidation>
+          <Gene id="15656">
+            <Name lang="en">three prime repair exonuclease 1</Name>
+            <Symbol>TREX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DRN3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27574">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="27572">
+                <Source>HGNC</Source>
+                <Reference>12269</Reference>
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+              <ExternalReference id="27571">
+                <Source>OMIM</Source>
+                <Reference>606609</Reference>
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+              <ExternalReference id="82838">
+                <Source>Reactome</Source>
+                <Reference>Q9NSU2</Reference>
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+              <ExternalReference id="32628">
+                <Source>SwissProt</Source>
+                <Reference>Q9NSU2</Reference>
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+              <ExternalReference id="58004">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213689</Reference>
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+      <Name lang="en">Keratosis follicularis spinulosa decalvans</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">membrane bound transcription factor peptidase, site 2</Name>
+            <Symbol>MBTPS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S2P</Synonym>
+              <Synonym lang="en">site-2 protease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012174</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MBTPS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15455</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300294</Reference>
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+              <ExternalReference id="58173">
+                <Source>Reactome</Source>
+                <Reference>O43462</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43462</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12215835[PMID]</SourceOfValidation>
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+            <Name lang="en">spermidine/spermine N1-acetyltransferase 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130066</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10540</Reference>
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+                <Source>OMIM</Source>
+                <Reference>313020</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P21673</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26142438[PMID]</SourceOfValidation>
+          <Gene id="23577">
+            <Name lang="en">LDL receptor related protein 1</Name>
+            <Symbol>LRP1</Symbol>
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+              <Synonym lang="en">APOER</Synonym>
+              <Synonym lang="en">CD91</Synonym>
+              <Synonym lang="en">LRP</Synonym>
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+              <Synonym lang="en">transforming growth factor-&amp;#946; receptor type V</Synonym>
+              <Synonym lang="en">transforming growth factor-ß receptor type V</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>6692</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107770</Reference>
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+                <Source>Reactome</Source>
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+      <OrphaCode>247685</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247685</ExpertLink>
+      <Name lang="en">Odontohypophosphatasia</Name>
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+            <Name lang="en">alkaline phosphatase, biomineralization associated</Name>
+            <Symbol>ALPL</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">tissue non-specific alkaline phosphatase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162551</Reference>
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+                <Source>HGNC</Source>
+                <Reference>438</Reference>
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+      <OrphaCode>2342</OrphaCode>
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+            <Name lang="en">cathepsin C</Name>
+            <Symbol>CTSC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DPP1</Synonym>
+              <Synonym lang="en">dipeptidyl peptidase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109861</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTSC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2528</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2344</Reference>
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+      <Name lang="en">Multiple endocrine neoplasia type 2B</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
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+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165731</Reference>
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+                <Reference>9967</Reference>
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+                <Reference>2185</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>2335</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2335</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Isolated keratoconus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23795306[PMID]</SourceOfValidation>
+          <Gene id="15713">
+            <Name lang="en">visual system homeobox 1</Name>
+            <Symbol>VSX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PPCD1</Synonym>
+              <Synonym lang="en">PPD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="27842">
+                <Source>HGNC</Source>
+                <Reference>12723</Reference>
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+              <ExternalReference id="27841">
+                <Source>OMIM</Source>
+                <Reference>605020</Reference>
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+              <ExternalReference id="32685">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZR4</Reference>
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+              <ExternalReference id="58187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100987</Reference>
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+              <ExternalReference id="27840">
+                <Source>Genatlas</Source>
+                <Reference>VSX1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>247638</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247638</ExpertLink>
+      <Name lang="en">Prenatal benign hypophosphatasia</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15504">
+            <Name lang="en">alkaline phosphatase, biomineralization associated</Name>
+            <Symbol>ALPL</Symbol>
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+              <Synonym lang="en">TNAP</Synonym>
+              <Synonym lang="en">TNSALP</Synonym>
+              <Synonym lang="en">tissue non-specific alkaline phosphatase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P05186</Reference>
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+              <ExternalReference id="60462">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162551</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ALPL</Reference>
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+              <ExternalReference id="26847">
+                <Source>HGNC</Source>
+                <Reference>438</Reference>
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+              <ExternalReference id="26846">
+                <Source>OMIM</Source>
+                <Reference>171760</Reference>
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+              <ExternalReference id="135047">
+                <Source>Reactome</Source>
+                <Reference>P05186</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Non-epidermolytic palmoplantar keratoderma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23830519[PMID]</SourceOfValidation>
+          <Gene id="22275">
+            <Name lang="en">aquaporin 5</Name>
+            <Symbol>AQP5</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83973">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161798</Reference>
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+              <ExternalReference id="81401">
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+                <Reference>AQP5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>638</Reference>
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+              <ExternalReference id="81400">
+                <Source>OMIM</Source>
+                <Reference>600442</Reference>
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+              <ExternalReference id="83972">
+                <Source>Reactome</Source>
+                <Reference>P55064</Reference>
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+              <ExternalReference id="81402">
+                <Source>SwissProt</Source>
+                <Reference>P55064</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>692</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Infantile hypophosphatasia</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P05186</Reference>
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+              <ExternalReference id="60462">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162551</Reference>
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+                <Reference>ALPL</Reference>
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+                <Reference>438</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P05186</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162551</Reference>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34440325[PMID]</SourceOfValidation>
+          <Gene id="15375">
+            <Name lang="en">bisphosphoglycerate mutase</Name>
+            <Symbol>BPGM</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>1093</Reference>
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+              <ExternalReference id="51398">
+                <Source>OMIM</Source>
+                <Reference>613896</Reference>
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+              <ExternalReference id="33932">
+                <Source>SwissProt</Source>
+                <Reference>P07738</Reference>
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+              <ExternalReference id="58537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172331</Reference>
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+              <ExternalReference id="26215">
+                <Source>Genatlas</Source>
+                <Reference>BPGM</Reference>
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+              <ExternalReference id="100292">
+                <Source>Reactome</Source>
+                <Reference>P07738</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19522">
+      <OrphaCode>247511</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247511</ExpertLink>
+      <Name lang="en">Autosomal dominant secondary polycythemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29514032[PMID]</SourceOfValidation>
+          <Gene id="24514">
+            <Name lang="en">erythropoietin</Name>
+            <Symbol>EPO</Symbol>
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+              <Synonym lang="en">EP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P01588</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01588</Reference>
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+                <Reference>ENSG00000130427</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16407130[PMID]_24115288[PMID]</SourceOfValidation>
+          <Gene id="17898">
+            <Name lang="en">egl-9 family hypoxia inducible factor 1</Name>
+            <Symbol>EGLN1</Symbol>
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+              <Synonym lang="en">HIF prolyl hydroxylase 2</Synonym>
+              <Synonym lang="en">HIFPH2</Synonym>
+              <Synonym lang="en">PHD2</Synonym>
+              <Synonym lang="en">SM-20</Synonym>
+              <Synonym lang="en">ZMYND6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>1232</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9GZT9</Reference>
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+                <Reference>Q9GZT9</Reference>
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+              <ExternalReference id="60456">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135766</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18184961[PMID]_24115288[PMID]</SourceOfValidation>
+          <Gene id="18353">
+            <Name lang="en">endothelial PAS domain protein 1</Name>
+            <Symbol>EPAS1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HIF-1 alpha-like factor</Synonym>
+              <Synonym lang="en">HIF2A</Synonym>
+              <Synonym lang="en">HLF</Synonym>
+              <Synonym lang="en">MOP2</Synonym>
+              <Synonym lang="en">PASD2</Synonym>
+              <Synonym lang="en">bHLHe73</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q99814</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99814</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116016</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34440325[PMID]</SourceOfValidation>
+          <Gene id="16819">
+            <Name lang="en">hemoglobin subunit alpha 1</Name>
+            <Symbol>HBA1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000206172</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83037">
+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>HGNC</Source>
+                <Reference>4824</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>HBB</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Primary ciliary dyskinesia-retinitis pigmentosa syndrome</Name>
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+            <LocusList count="1">
+              <Locus id="25509">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2233">
+      <OrphaCode>2407</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2407</ExpertLink>
+      <Name lang="en">Laryngo-onycho-cutaneous syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12915477[PMID]_23869449[PMID]</SourceOfValidation>
+          <Gene id="16333">
+            <Name lang="en">laminin subunit alpha 3</Name>
+            <Symbol>LAMA3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BM600-150kDa</Synonym>
+              <Synonym lang="en">epiligrin</Synonym>
+              <Synonym lang="en">kalinin-165kDa</Synonym>
+              <Synonym lang="en">nicein-150kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58196">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000053747</Reference>
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+              <ExternalReference id="30818">
+                <Source>Genatlas</Source>
+                <Reference>LAMA3</Reference>
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+              <ExternalReference id="38657">
+                <Source>HGNC</Source>
+                <Reference>6483</Reference>
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+              <ExternalReference id="30815">
+                <Source>OMIM</Source>
+                <Reference>600805</Reference>
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+              <ExternalReference id="58197">
+                <Source>Reactome</Source>
+                <Reference>Q16787</Reference>
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+              <ExternalReference id="33398">
+                <Source>SwissProt</Source>
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+            <LocusList count="1">
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+      <Name lang="en">Familial hypodysfibrinogenemia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>14615374[PMID]</SourceOfValidation>
+          <Gene id="16040">
+            <Name lang="en">fibrinogen alpha chain</Name>
+            <Symbol>FGA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59697">
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+                <Reference>ENSG00000171560</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3661</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P02671</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22955321[PMID]</SourceOfValidation>
+          <Gene id="16041">
+            <Name lang="en">fibrinogen beta chain</Name>
+            <Symbol>FGB</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171564</Reference>
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+              <ExternalReference id="37037">
+                <Source>Genatlas</Source>
+                <Reference>FGB</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P02675</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02675</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15632207[PMID]</SourceOfValidation>
+          <Gene id="16048">
+            <Name lang="en">fibrinogen gamma chain</Name>
+            <Symbol>FGG</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>FGG</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Encephalocraniocutaneous lipomatosis</Name>
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+            <Symbol>FGFR1</Symbol>
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+              <Synonym lang="en">CD331</Synonym>
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+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
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+      <Name lang="en">Choreoacanthocytosis</Name>
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+              <Synonym lang="en">KIAA0986</Synonym>
+              <Synonym lang="en">chorein</Synonym>
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+                <Reference>ENSG00000197386</Reference>
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+              <Synonym lang="en">Phospholipase C d1</Synonym>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2216">
+      <OrphaCode>2379</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2379</ExpertLink>
+      <Name lang="en">Early-onset parkinsonism-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25434005[PMID]</SourceOfValidation>
+          <Gene id="18988">
+            <Name lang="en">RAB39B, member RAS oncogene family</Name>
+            <Symbol>RAB39B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126390">
+                <Source>Reactome</Source>
+                <Reference>Q96DA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="44537">
+                <Source>Genatlas</Source>
+                <Reference>RAB39B</Reference>
+              </ExternalReference>
+              <ExternalReference id="44538">
+                <Source>HGNC</Source>
+                <Reference>16499</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>300774</Reference>
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+              <ExternalReference id="44540">
+                <Source>SwissProt</Source>
+                <Reference>Q96DA2</Reference>
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+              <ExternalReference id="58459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155961</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247834</ExpertLink>
+      <Name lang="en">Occult macular dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20826268[PMID]</SourceOfValidation>
+          <Gene id="19678">
+            <Name lang="en">RP1 like 1</Name>
+            <Symbol>RP1L1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DCDC4B</Synonym>
+              <Synonym lang="en">doublecortin domain containing 4B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183638</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RP1L1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>15946</Reference>
+              </ExternalReference>
+              <ExternalReference id="50360">
+                <Source>OMIM</Source>
+                <Reference>608581</Reference>
+              </ExternalReference>
+              <ExternalReference id="50359">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWN7</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19552">
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+      <Name lang="en">Ectodermal dysplasia-syndactyly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20691405[PMID]_21346770[PMID]</SourceOfValidation>
+          <Gene id="19677">
+            <Name lang="en">nectin cell adhesion molecule 4</Name>
+            <Symbol>NECTIN4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LNIR</Synonym>
+              <Synonym lang="en">PRR4</Synonym>
+              <Synonym lang="en">nectin-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190443">
+                <Source>IUPHAR</Source>
+                <Reference>3112</Reference>
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+              <ExternalReference id="60466">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143217</Reference>
+              </ExternalReference>
+              <ExternalReference id="50348">
+                <Source>Genatlas</Source>
+                <Reference>PVRL4</Reference>
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+              <ExternalReference id="50349">
+                <Source>HGNC</Source>
+                <Reference>19688</Reference>
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+              <ExternalReference id="50350">
+                <Source>OMIM</Source>
+                <Reference>609607</Reference>
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+              <ExternalReference id="60467">
+                <Source>Reactome</Source>
+                <Reference>Q96NY8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96NY8</Reference>
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+                <GeneLocus>1q23.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2215">
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+      <Name lang="en">Laurin-Sandrow syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">limb development membrane protein 1</Name>
+            <Symbol>LMBR1</Symbol>
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+              <Synonym lang="en">FLJ11665</Synonym>
+              <Synonym lang="en">ZRS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105983</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LMBR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13243</Reference>
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+              <ExternalReference id="30957">
+                <Source>OMIM</Source>
+                <Reference>605522</Reference>
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+              <ExternalReference id="33428">
+                <Source>SwissProt</Source>
+                <Reference>Q8WVP7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19559">
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+      <Name lang="en">NLRP12-associated hereditary periodic fever syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18230725[PMID]</SourceOfValidation>
+          <Gene id="16783">
+            <Name lang="en">NLR family pyrin domain containing 12</Name>
+            <Symbol>NLRP12</Symbol>
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+              <Synonym lang="en">Monarch1</Synonym>
+              <Synonym lang="en">PAN6</Synonym>
+              <Synonym lang="en">PYPAF7</Synonym>
+              <Synonym lang="en">RNO2</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60469">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142405</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NLRP12</Reference>
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+                <Reference>22938</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609648</Reference>
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+              <ExternalReference id="34915">
+                <Source>SwissProt</Source>
+                <Reference>P59046</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Mucocutaneous venous malformations</Name>
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+            <Name lang="en">TEK receptor tyrosine kinase</Name>
+            <Symbol>TEK</Symbol>
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+              <Synonym lang="en">TIE-2</Synonym>
+              <Synonym lang="en">TIE2</Synonym>
+              <Synonym lang="en">VMCM1</Synonym>
+              <Synonym lang="en">angiopoietin-1 receptor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120156</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TEK</Reference>
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+                <Reference>11724</Reference>
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+                <Reference>1842</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600221</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q02763</Reference>
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+      <Name lang="en">Dominant hypophosphatemia with nephrolithiasis or osteoporosis</Name>
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+            <Name lang="en">solute carrier family 34 member 1</Name>
+            <Symbol>SLC34A1</Symbol>
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+              <Synonym lang="en">NPTIIa</Synonym>
+              <Synonym lang="en">Na+-phosphate cotransporter type II</Synonym>
+              <Synonym lang="en">SLC11</Synonym>
+              <Synonym lang="en">sodium/phosphate co-transporter</Synonym>
+              <Synonym lang="en">solute carrier family 17 (sodium phosphate), member 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131183</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">SLC9A3 regulator 1</Name>
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+              <Synonym lang="en">EBP50</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109062</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">Biliary atresia with splenic malformation syndrome</Name>
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+            <Name lang="en">cripto, FRL-1, cryptic family 1</Name>
+            <Symbol>CFC1</Symbol>
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+              <Synonym lang="en">CRYPTIC</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136698</Reference>
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+                <Reference>18292</Reference>
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+                <Reference>605194</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P0CG37</Reference>
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+      <Name lang="en">Isolated split hand-split foot malformation</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28611547[PMID]</SourceOfValidation>
+          <Gene id="24481">
+            <Name lang="en">distal-less homeobox 6</Name>
+            <Symbol>DLX6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="132756">
+                <Source>SwissProt</Source>
+                <Reference>P56179</Reference>
+              </ExternalReference>
+              <ExternalReference id="132040">
+                <Source>OMIM</Source>
+                <Reference>600030</Reference>
+              </ExternalReference>
+              <ExternalReference id="133586">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006377</Reference>
+              </ExternalReference>
+              <ExternalReference id="144124">
+                <Source>Genatlas</Source>
+                <Reference>DLX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="131298">
+                <Source>HGNC</Source>
+                <Reference>2919</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39691">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29023680[PMID]</SourceOfValidation>
+          <Gene id="26524">
+            <Name lang="en">epidermal growth factor receptor pathway substrate 15 like 1</Name>
+            <Symbol>EPS15L1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">eps15R</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155692">
+                <Source>HGNC</Source>
+                <Reference>24634</Reference>
+              </ExternalReference>
+              <ExternalReference id="155693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127527</Reference>
+              </ExternalReference>
+              <ExternalReference id="155694">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="155695">
+                <Source>OMIM</Source>
+                <Reference>616826</Reference>
+              </ExternalReference>
+              <ExternalReference id="155696">
+                <Source>Genatlas</Source>
+                <Reference>EPS15L1</Reference>
+              </ExternalReference>
+              <ExternalReference id="155697">
+                <Source>Reactome</Source>
+                <Reference>Q9UBC2</Reference>
+              </ExternalReference>
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+              <Locus id="44387">
+                <GeneLocus>19p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10839977[PMID]</SourceOfValidation>
+          <Gene id="15645">
+            <Name lang="en">tumor protein p63</Name>
+            <Symbol>TP63</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">EEC3</Synonym>
+              <Synonym lang="en">KET</Synonym>
+              <Synonym lang="en">NBP</Synonym>
+              <Synonym lang="en">OFC8</Synonym>
+              <Synonym lang="en">SHFM4</Synonym>
+              <Synonym lang="en">p51</Synonym>
+              <Synonym lang="en">p53CP</Synonym>
+              <Synonym lang="en">p63</Synonym>
+              <Synonym lang="en">p73H</Synonym>
+              <Synonym lang="en">p73L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57145">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
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+              <ExternalReference id="36602">
+                <Source>Genatlas</Source>
+                <Reference>TP63</Reference>
+              </ExternalReference>
+              <ExternalReference id="37604">
+                <Source>HGNC</Source>
+                <Reference>15979</Reference>
+              </ExternalReference>
+              <ExternalReference id="27521">
+                <Source>OMIM</Source>
+                <Reference>603273</Reference>
+              </ExternalReference>
+              <ExternalReference id="97191">
+                <Source>Reactome</Source>
+                <Reference>Q9H3D4</Reference>
+              </ExternalReference>
+              <ExternalReference id="32617">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3D4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22341">
+                <GeneLocus>3q28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23169702[PMID]</SourceOfValidation>
+          <Gene id="16821">
+            <Name lang="en">SEM1 26S proteasome subunit</Name>
+            <Symbol>SEM1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DSS1</Synonym>
+              <Synonym lang="en">ECD</Synonym>
+              <Synonym lang="en">FLJ42280</Synonym>
+              <Synonym lang="en">PSMD15</Synonym>
+              <Synonym lang="en">SHSF1</Synonym>
+              <Synonym lang="en">Shfdg1</Synonym>
+              <Synonym lang="en">deleted in split-hand/foot 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58201">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127922</Reference>
+              </ExternalReference>
+              <ExternalReference id="35111">
+                <Source>Genatlas</Source>
+                <Reference>SHFM1</Reference>
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+              <ExternalReference id="35110">
+                <Source>HGNC</Source>
+                <Reference>10845</Reference>
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+              <ExternalReference id="36284">
+                <Source>OMIM</Source>
+                <Reference>601285</Reference>
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+              <ExternalReference id="35112">
+                <Source>SwissProt</Source>
+                <Reference>P60896</Reference>
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+              <ExternalReference id="126368">
+                <Source>Reactome</Source>
+                <Reference>P60896</Reference>
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+                <GeneLocus>7q21.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18515319[PMID]_20635353[PMID]</SourceOfValidation>
+          <Gene id="18356">
+            <Name lang="en">Wnt family member 10B</Name>
+            <Symbol>WNT10B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SHFM6</Synonym>
+              <Synonym lang="en">WNT-12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58202">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169884</Reference>
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+              <ExternalReference id="41706">
+                <Source>Genatlas</Source>
+                <Reference>WNT10B</Reference>
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+              <ExternalReference id="41707">
+                <Source>HGNC</Source>
+                <Reference>12775</Reference>
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+              <ExternalReference id="41708">
+                <Source>OMIM</Source>
+                <Reference>601906</Reference>
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+              <ExternalReference id="58203">
+                <Source>Reactome</Source>
+                <Reference>O00744</Reference>
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+              <ExternalReference id="41709">
+                <Source>SwissProt</Source>
+                <Reference>O00744</Reference>
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+                <GeneLocus>12q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24496061[PMID]</SourceOfValidation>
+          <Gene id="20789">
+            <Name lang="en">distal-less homeobox 5</Name>
+            <Symbol>DLX5</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105880</Reference>
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+              <ExternalReference id="60666">
+                <Source>Genatlas</Source>
+                <Reference>DLX5</Reference>
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+              <ExternalReference id="60664">
+                <Source>HGNC</Source>
+                <Reference>2918</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600028</Reference>
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+              <ExternalReference id="60667">
+                <Source>SwissProt</Source>
+                <Reference>P56178</Reference>
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+                <GeneLocus>7q21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24115638[PMID]_16691619[PMID]</SourceOfValidation>
+          <Gene id="22260">
+            <Name lang="en">beta-transducin repeat containing E3 ubiquitin protein ligase</Name>
+            <Symbol>BTRC</Symbol>
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+              <Synonym lang="en">FBXW1A</Synonym>
+              <Synonym lang="en">Fwd1</Synonym>
+              <Synonym lang="en">bTrCP</Synonym>
+              <Synonym lang="en">bTrCP1</Synonym>
+              <Synonym lang="en">beta-TrCP1</Synonym>
+              <Synonym lang="en">betaTrCP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166167</Reference>
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+              <ExternalReference id="80879">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1144</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603482</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y297</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">dactylin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107829</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P57775</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P57775</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608071</Reference>
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+            <Name lang="en">RFT1 homolog</Name>
+            <Symbol>RFT1</Symbol>
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+              <Synonym lang="en">CDG1N</Synonym>
+              <Synonym lang="en">congenital disorder of glycosylation 1N</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60451">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163933</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30220</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">CD46 molecule</Name>
+            <Symbol>CD46</Symbol>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
+            <Symbol>CFH</Symbol>
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+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000000971</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18658028[PMID]_22594569[PMID]</SourceOfValidation>
+          <Gene id="15438">
+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">C3b-inactivator</Synonym>
+              <Synonym lang="en">FI</Synonym>
+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P05156</Reference>
+              </ExternalReference>
+              <ExternalReference id="59693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
+              </ExternalReference>
+              <ExternalReference id="26518">
+                <Source>Genatlas</Source>
+                <Reference>CFI</Reference>
+              </ExternalReference>
+              <ExternalReference id="26520">
+                <Source>HGNC</Source>
+                <Reference>5394</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7407">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23093777[PMID]</SourceOfValidation>
+          <Gene id="21826">
+            <Name lang="en">HELLP associated long non-coding RNA</Name>
+            <Symbol>HELLPAR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LINC-HELLP</Synonym>
+              <Synonym lang="en">Long intergenic non-protein coding RNA associated with HELLP syndrome</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA associated with HELLP syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="95378">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000281344</Reference>
+              </ExternalReference>
+              <ExternalReference id="76860">
+                <Source>HGNC</Source>
+                <Reference>43984</Reference>
+              </ExternalReference>
+              <ExternalReference id="76861">
+                <Source>OMIM</Source>
+                <Reference>614985</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16301">
+                <GeneLocus>12q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2257">
+      <OrphaCode>296</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=296</ExpertLink>
+      <Name lang="en">Ollier disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11850620[PMID]_18559376[PMID]</SourceOfValidation>
+          <Gene id="15169">
+            <Name lang="en">parathyroid hormone 1 receptor</Name>
+            <Symbol>PTH1R</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58028">
+                <Source>Reactome</Source>
+                <Reference>Q03431</Reference>
+              </ExternalReference>
+              <ExternalReference id="33693">
+                <Source>SwissProt</Source>
+                <Reference>Q03431</Reference>
+              </ExternalReference>
+              <ExternalReference id="58027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160801</Reference>
+              </ExternalReference>
+              <ExternalReference id="41682">
+                <Source>Genatlas</Source>
+                <Reference>PTH1R</Reference>
+              </ExternalReference>
+              <ExternalReference id="25238">
+                <Source>HGNC</Source>
+                <Reference>9608</Reference>
+              </ExternalReference>
+              <ExternalReference id="82754">
+                <Source>IUPHAR</Source>
+                <Reference>331</Reference>
+              </ExternalReference>
+              <ExternalReference id="25237">
+                <Source>OMIM</Source>
+                <Reference>168468</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>3p21.31</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22057236[PMID]_22057234[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
+              </ExternalReference>
+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
+              </ExternalReference>
+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
+              </ExternalReference>
+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22057236[PMID]_22057234[PMID]</SourceOfValidation>
+          <Gene id="21083">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 1</Name>
+            <Symbol>IDH1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190558">
+                <Source>IUPHAR</Source>
+                <Reference>2884</Reference>
+              </ExternalReference>
+              <ExternalReference id="83345">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138413</Reference>
+              </ExternalReference>
+              <ExternalReference id="61769">
+                <Source>Genatlas</Source>
+                <Reference>IDH1</Reference>
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+              <ExternalReference id="61767">
+                <Source>HGNC</Source>
+                <Reference>5382</Reference>
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+              <ExternalReference id="61768">
+                <Source>OMIM</Source>
+                <Reference>147700</Reference>
+              </ExternalReference>
+              <ExternalReference id="83344">
+                <Source>Reactome</Source>
+                <Reference>O75874</Reference>
+              </ExternalReference>
+              <ExternalReference id="61770">
+                <Source>SwissProt</Source>
+                <Reference>O75874</Reference>
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+            <LocusList count="1">
+              <Locus id="60525">
+                <GeneLocus>2q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19474">
+      <OrphaCode>244275</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=244275</ExpertLink>
+      <Name lang="en">De novo thrombotic microangiopathy after kidney transplantation</Name>
+      <DisorderType id="21429">
+        <Name lang="en">Particular clinical situation in a disease or syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15438">
+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C3b-INA</Synonym>
+              <Synonym lang="en">C3b-inactivator</Synonym>
+              <Synonym lang="en">FI</Synonym>
+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26519">
+                <Source>OMIM</Source>
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+              <ExternalReference id="59694">
+                <Source>Reactome</Source>
+                <Reference>P05156</Reference>
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+              <ExternalReference id="32407">
+                <Source>SwissProt</Source>
+                <Reference>P05156</Reference>
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+              <ExternalReference id="59693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
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+              <ExternalReference id="26518">
+                <Source>Genatlas</Source>
+                <Reference>CFI</Reference>
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+              <ExternalReference id="26520">
+                <Source>HGNC</Source>
+                <Reference>5394</Reference>
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+              <Locus id="7407">
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
+            <Symbol>CFH</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">ARMS1</Synonym>
+              <Synonym lang="en">FHL1</Synonym>
+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000000971</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>134370</Reference>
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+              <ExternalReference id="58481">
+                <Source>Reactome</Source>
+                <Reference>P08603</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P08603</Reference>
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+                <GeneLocus>1q31.3</GeneLocus>
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2259">
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+      <Name lang="en">Hand-foot-genital syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">homeobox A13</Name>
+            <Symbol>HOXA13</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000106031</Reference>
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+                <Reference>HOXA13</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5102</Reference>
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+                <Reference>P31271</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Dimethylglycine dehydrogenase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">dimethylglycine dehydrogenase</Name>
+            <Symbol>DMGDH</Symbol>
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+            <GeneType id="25993">
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132837</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>24475</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605849</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UI17</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Acute fatty liver of pregnancy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha</Name>
+            <Symbol>HADHA</Symbol>
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+              <Synonym lang="en">GBP</Synonym>
+              <Synonym lang="en">LCEH</Synonym>
+              <Synonym lang="en">LCHAD</Synonym>
+              <Synonym lang="en">MTPA</Synonym>
+              <Synonym lang="en">gastrin-binding protein</Synonym>
+              <Synonym lang="en">long-chain 2-enoyl-CoA hydratase</Synonym>
+              <Synonym lang="en">long-chain-3-hydroxyacyl-CoA dehydrogenase</Synonym>
+              <Synonym lang="en">mitochondrial trifunctional protein, alpha subunit</Synonym>
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+                <Reference>ENSG00000084754</Reference>
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+                <Reference>4801</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Diabetes mellitus type 1</Name>
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+        <Name lang="en">Disease</Name>
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+                <Reference>ENSG00000196126</Reference>
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+                <Reference>HLA-DRB1</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P01911</Reference>
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+          <Gene id="16829">
+            <Name lang="en">major histocompatibility complex, class II, DQ alpha 1</Name>
+            <Symbol>HLA-DQA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CELIAC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="35151">
+                <Source>OMIM</Source>
+                <Reference>146880</Reference>
+              </ExternalReference>
+              <ExternalReference id="82664">
+                <Source>Reactome</Source>
+                <Reference>P01909</Reference>
+              </ExternalReference>
+              <ExternalReference id="82609">
+                <Source>SwissProt</Source>
+                <Reference>P01909</Reference>
+              </ExternalReference>
+              <ExternalReference id="57095">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196735</Reference>
+              </ExternalReference>
+              <ExternalReference id="35148">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35149">
+                <Source>HGNC</Source>
+                <Reference>4942</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24059">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
+              </ExternalReference>
+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="43210">
+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
+              </ExternalReference>
+              <ExternalReference id="43211">
+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
+              </ExternalReference>
+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
+              </ExternalReference>
+              <ExternalReference id="82625">
+                <Source>SwissProt</Source>
+                <Reference>P01920</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24817">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19471">
+      <OrphaCode>243761</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=243761</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Essential hypertension</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8021009[PMID]</SourceOfValidation>
+          <Gene id="16808">
+            <Name lang="en">angiotensin II receptor type 1</Name>
+            <Symbol>AGTR1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">AG2S</Synonym>
+              <Synonym lang="en">AGTR1A</Synonym>
+              <Synonym lang="en">AT1</Synonym>
+              <Synonym lang="en">AT1B</Synonym>
+              <Synonym lang="en">AT2R1</Synonym>
+              <Synonym lang="en">AT2R1A</Synonym>
+              <Synonym lang="en">AT2R1B</Synonym>
+              <Synonym lang="en">HAT1R</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59790">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144891</Reference>
+              </ExternalReference>
+              <ExternalReference id="35041">
+                <Source>Genatlas</Source>
+                <Reference>AGTR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36108">
+                <Source>HGNC</Source>
+                <Reference>336</Reference>
+              </ExternalReference>
+              <ExternalReference id="83033">
+                <Source>IUPHAR</Source>
+                <Reference>34</Reference>
+              </ExternalReference>
+              <ExternalReference id="36107">
+                <Source>OMIM</Source>
+                <Reference>106165</Reference>
+              </ExternalReference>
+              <ExternalReference id="59791">
+                <Source>Reactome</Source>
+                <Reference>P30556</Reference>
+              </ExternalReference>
+              <ExternalReference id="35039">
+                <Source>SwissProt</Source>
+                <Reference>P30556</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9731">
+                <GeneLocus>3q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12372404[PMID]</SourceOfValidation>
+          <Gene id="25288">
+            <Name lang="en">prostaglandin I2 synthase</Name>
+            <Symbol>PTGIS</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CYP8A1</Synonym>
+              <Synonym lang="en">PGIS</Synonym>
+              <Synonym lang="en">cytochrome P450, family 8, subfamily A, polypeptide 1</Synonym>
+              <Synonym lang="en">prostacyclin synthase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143335">
+                <Source>SwissProt</Source>
+                <Reference>Q16647</Reference>
+              </ExternalReference>
+              <ExternalReference id="190730">
+                <Source>IUPHAR</Source>
+                <Reference>1356</Reference>
+              </ExternalReference>
+              <ExternalReference id="138503">
+                <Source>HGNC</Source>
+                <Reference>9603</Reference>
+              </ExternalReference>
+              <ExternalReference id="138504">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124212</Reference>
+              </ExternalReference>
+              <ExternalReference id="138505">
+                <Source>OMIM</Source>
+                <Reference>601699</Reference>
+              </ExternalReference>
+              <ExternalReference id="138506">
+                <Source>Genatlas</Source>
+                <Reference>PTGIS</Reference>
+              </ExternalReference>
+              <ExternalReference id="138507">
+                <Source>Reactome</Source>
+                <Reference>Q16647</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60869">
+                <GeneLocus>20q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15475">
+            <Name lang="en">angiotensinogen</Name>
+            <Symbol>AGT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">alpha-1 antiproteinase, antitrypsin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59793">
+                <Source>Reactome</Source>
+                <Reference>P01019</Reference>
+              </ExternalReference>
+              <ExternalReference id="32446">
+                <Source>SwissProt</Source>
+                <Reference>P01019</Reference>
+              </ExternalReference>
+              <ExternalReference id="59792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135744</Reference>
+              </ExternalReference>
+              <ExternalReference id="26707">
+                <Source>Genatlas</Source>
+                <Reference>AGT</Reference>
+              </ExternalReference>
+              <ExternalReference id="26705">
+                <Source>HGNC</Source>
+                <Reference>333</Reference>
+              </ExternalReference>
+              <ExternalReference id="26704">
+                <Source>OMIM</Source>
+                <Reference>106150</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7475">
+                <GeneLocus>1q42.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21866188[PMID]</SourceOfValidation>
+          <Gene id="24818">
+            <Name lang="en">phenylethanolamine N-methyltransferase</Name>
+            <Symbol>PNMT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="133084">
+                <Source>SwissProt</Source>
+                <Reference>P11086</Reference>
+              </ExternalReference>
+              <ExternalReference id="133723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141744</Reference>
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+              <ExternalReference id="134476">
+                <Source>Reactome</Source>
+                <Reference>P11086</Reference>
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+              <ExternalReference id="190750">
+                <Source>IUPHAR</Source>
+                <Reference>2496</Reference>
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+              <ExternalReference id="131635">
+                <Source>HGNC</Source>
+                <Reference>9160</Reference>
+              </ExternalReference>
+              <ExternalReference id="132364">
+                <Source>OMIM</Source>
+                <Reference>171190</Reference>
+              </ExternalReference>
+              <ExternalReference id="143178">
+                <Source>Genatlas</Source>
+                <Reference>PNMT</Reference>
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+            <LocusList count="1">
+              <Locus id="60909">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="19519">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247353</ExpertLink>
+      <Name lang="en">Generalized pustular psoriasis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21839423[PMID]</SourceOfValidation>
+          <Gene id="20543">
+            <Name lang="en">interleukin 36 receptor antagonist</Name>
+            <Symbol>IL36RN</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">FIL1</Synonym>
+              <Synonym lang="en">FIL1(DELTA)</Synonym>
+              <Synonym lang="en">FIL1D</Synonym>
+              <Synonym lang="en">IL-1 related protein 3</Synonym>
+              <Synonym lang="en">IL-1F5</Synonym>
+              <Synonym lang="en">IL1HY1</Synonym>
+              <Synonym lang="en">IL1L1</Synonym>
+              <Synonym lang="en">IL1RP3</Synonym>
+              <Synonym lang="en">IL36RA</Synonym>
+              <Synonym lang="en">MGC29840</Synonym>
+              <Synonym lang="en">family of interleukin 1-delta</Synonym>
+              <Synonym lang="en">interleukin-1 HY1</Synonym>
+              <Synonym lang="en">interleukin-1 receptor antagonist homolog 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136695</Reference>
+              </ExternalReference>
+              <ExternalReference id="54297">
+                <Source>Genatlas</Source>
+                <Reference>IL36RN</Reference>
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+              <ExternalReference id="54295">
+                <Source>HGNC</Source>
+                <Reference>15561</Reference>
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+              <ExternalReference id="54296">
+                <Source>OMIM</Source>
+                <Reference>605507</Reference>
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+              <ExternalReference id="54298">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBH0</Reference>
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+              <ExternalReference id="143523">
+                <Source>Reactome</Source>
+                <Reference>Q9UBH0</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24791904[PMID]</SourceOfValidation>
+          <Gene id="22886">
+            <Name lang="en">adaptor related protein complex 1 subunit sigma 3</Name>
+            <Symbol>AP1S3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">sigma1C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91580">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152056</Reference>
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+              <ExternalReference id="89927">
+                <Source>Genatlas</Source>
+                <Reference>AP1S3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18971</Reference>
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+              <ExternalReference id="89926">
+                <Source>OMIM</Source>
+                <Reference>615781</Reference>
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+              <ExternalReference id="91579">
+                <Source>Reactome</Source>
+                <Reference>Q96PC3</Reference>
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+              <ExternalReference id="89928">
+                <Source>SwissProt</Source>
+                <Reference>Q96PC3</Reference>
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+            <LocusList count="1">
+              <Locus id="21801">
+                <GeneLocus>2q36.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19518">
+      <OrphaCode>247262</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=247262</ExpertLink>
+      <Name lang="en">Hyperphosphatasia-intellectual disability syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24129430[PMID]</SourceOfValidation>
+          <Gene id="19641">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class V</Name>
+            <Symbol>PIGV</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20477</Synonym>
+              <Synonym lang="en">GPI mannosyltransferase 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60453">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060642</Reference>
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+              <ExternalReference id="50241">
+                <Source>Genatlas</Source>
+                <Reference>PIGV</Reference>
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+              <ExternalReference id="50242">
+                <Source>HGNC</Source>
+                <Reference>26031</Reference>
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+              <ExternalReference id="50243">
+                <Source>OMIM</Source>
+                <Reference>610274</Reference>
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+              <ExternalReference id="60454">
+                <Source>Reactome</Source>
+                <Reference>Q9NUD9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NUD9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25706356[PMID]</SourceOfValidation>
+          <Gene id="21093">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class L</Name>
+            <Symbol>PIGL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">N-acetylglucosaminylphosphatidylinositol deacetylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108474</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PIGL</Reference>
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+                <Reference>8966</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605947</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2B2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2B2</Reference>
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+                <GeneLocus>17p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22683086[PMID]</SourceOfValidation>
+          <Gene id="21195">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class O</Name>
+            <Symbol>PIGO</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZp434M222</Synonym>
+              <Synonym lang="en">FLJ00135</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>23215</Reference>
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+              <ExternalReference id="70263">
+                <Source>OMIM</Source>
+                <Reference>614730</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TEQ8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TEQ8</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165282</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PIGO</Reference>
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+                <GeneLocus>9p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23561847[PMID]_23561846[PMID]</SourceOfValidation>
+          <Gene id="22025">
+            <Name lang="en">post-GPI attachment to proteins 2</Name>
+            <Symbol>PGAP2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CWH43-N</Synonym>
+              <Synonym lang="en">Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">FGF receptor activating protein 1</Synonym>
+              <Synonym lang="en">FRAG1</Synonym>
+              <Synonym lang="en">cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83773">
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+                <Reference>ENSG00000148985</Reference>
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+              <ExternalReference id="80316">
+                <Source>Genatlas</Source>
+                <Reference>PGAP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17893</Reference>
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+              <ExternalReference id="78702">
+                <Source>OMIM</Source>
+                <Reference>615187</Reference>
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+              <ExternalReference id="78704">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHJ9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24439110[PMID]</SourceOfValidation>
+          <Gene id="22670">
+            <Name lang="en">post-GPI attachment to proteins phospholipase 3</Name>
+            <Symbol>PGAP3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAB2</Synonym>
+              <Synonym lang="en">MGC9753</Synonym>
+              <Synonym lang="en">PER1</Synonym>
+              <Synonym lang="en">PP1498</Synonym>
+              <Synonym lang="en">post-GPI attachment to proteins 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000161395</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>23719</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24367057[PMID]</SourceOfValidation>
+          <Gene id="22796">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class W</Name>
+            <Symbol>PIGW</Symbol>
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+              <Synonym lang="en">FLJ37433</Synonym>
+              <Synonym lang="en">Gwt1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26293662[PMID]</SourceOfValidation>
+          <Gene id="23627">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class Y</Name>
+            <Symbol>PIGY</Symbol>
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+              <Synonym lang="en">MGC14156</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q3MUY2</Reference>
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+    <Disorder id="2297">
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+      <Name lang="en">Melnick-Needles syndrome</Name>
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+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+            <Symbol>SEPSECS</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <GeneLocus>19p13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2277">
+      <OrphaCode>559</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=559</ExpertLink>
+      <Name lang="en">Marinesco-Sjögren syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301371[PMID]_16650075[PMID]</SourceOfValidation>
+          <Gene id="15294">
+            <Name lang="en">SIL1 nucleotide exchange factor</Name>
+            <Symbol>SIL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BAP</Synonym>
+              <Synonym lang="en">ULG5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58208">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120725</Reference>
+              </ExternalReference>
+              <ExternalReference id="25831">
+                <Source>Genatlas</Source>
+                <Reference>SIL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25829">
+                <Source>HGNC</Source>
+                <Reference>24624</Reference>
+              </ExternalReference>
+              <ExternalReference id="25828">
+                <Source>OMIM</Source>
+                <Reference>608005</Reference>
+              </ExternalReference>
+              <ExternalReference id="33852">
+                <Source>SwissProt</Source>
+                <Reference>Q9H173</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21277">
+                <GeneLocus>5q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28190456_28190459[PMID]</SourceOfValidation>
+          <Gene id="25356">
+            <Name lang="en">inositol polyphosphate-5-phosphatase K</Name>
+            <Symbol>INPP5K</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SKIP</Synonym>
+              <Synonym lang="en">skeletal muscle and kidney enriched inositol phosphatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="142432">
+                <Source>HGNC</Source>
+                <Reference>33882</Reference>
+              </ExternalReference>
+              <ExternalReference id="142433">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132376</Reference>
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+              <ExternalReference id="142434">
+                <Source>OMIM</Source>
+                <Reference>607875</Reference>
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+              <ExternalReference id="142435">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT40</Reference>
+              </ExternalReference>
+              <ExternalReference id="142436">
+                <Source>Genatlas</Source>
+                <Reference>INPP5K</Reference>
+              </ExternalReference>
+              <ExternalReference id="142437">
+                <Source>Reactome</Source>
+                <Reference>R-HSA-1806175</Reference>
+              </ExternalReference>
+              <ExternalReference id="189382">
+                <Source>IUPHAR</Source>
+                <Reference>1458</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58591">
+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2275">
+      <OrphaCode>2462</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2462</ExpertLink>
+      <Name lang="en">Shprintzen-Goldberg syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23023332[PMID]</SourceOfValidation>
+          <Gene id="21427">
+            <Name lang="en">SKI proto-oncogene</Name>
+            <Symbol>SKI</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157933</Reference>
+              </ExternalReference>
+              <ExternalReference id="71704">
+                <Source>Genatlas</Source>
+                <Reference>SKI</Reference>
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+              <ExternalReference id="71702">
+                <Source>HGNC</Source>
+                <Reference>10896</Reference>
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+              <ExternalReference id="71703">
+                <Source>OMIM</Source>
+                <Reference>164780</Reference>
+              </ExternalReference>
+              <ExternalReference id="83491">
+                <Source>Reactome</Source>
+                <Reference>P12755</Reference>
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+              <ExternalReference id="71705">
+                <Source>SwissProt</Source>
+                <Reference>P12755</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22041">
+                <GeneLocus>1p36.33-p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301454[PMID]_8563763[PMID]_9338588[PMID]_16333834[PMID]</SourceOfValidation>
+          <Gene id="16032">
+            <Name lang="en">fibrillin 1</Name>
+            <Symbol>FBN1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MASS</Synonym>
+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57333">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
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+              <ExternalReference id="29363">
+                <Source>Genatlas</Source>
+                <Reference>FBN1</Reference>
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+              <ExternalReference id="29365">
+                <Source>HGNC</Source>
+                <Reference>3603</Reference>
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+              <ExternalReference id="29364">
+                <Source>OMIM</Source>
+                <Reference>134797</Reference>
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+              <ExternalReference id="57334">
+                <Source>Reactome</Source>
+                <Reference>P35555</Reference>
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+              <ExternalReference id="33046">
+                <Source>SwissProt</Source>
+                <Reference>P35555</Reference>
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+            <LocusList count="1">
+              <Locus id="8511">
+                <GeneLocus>15q21.1</GeneLocus>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Marden-Walker syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>24726473[PMID]</SourceOfValidation>
+          <Gene id="22032">
+            <Name lang="en">piezo type mechanosensitive ion channel component 2</Name>
+            <Symbol>PIEZO2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ23144</Synonym>
+              <Synonym lang="en">FLJ23403</Synonym>
+              <Synonym lang="en">FLJ34907</Synonym>
+              <Synonym lang="en">HsT748</Synonym>
+              <Synonym lang="en">HsT771</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190529">
+                <Source>IUPHAR</Source>
+                <Reference>2946</Reference>
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+              <ExternalReference id="83782">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154864</Reference>
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+              <ExternalReference id="78740">
+                <Source>Genatlas</Source>
+                <Reference>PIEZO2</Reference>
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+              <ExternalReference id="78738">
+                <Source>HGNC</Source>
+                <Reference>26270</Reference>
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+              <ExternalReference id="78739">
+                <Source>OMIM</Source>
+                <Reference>613629</Reference>
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+              <ExternalReference id="78741">
+                <Source>SwissProt</Source>
+                <Reference>Q9H5I5</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19664">
+      <OrphaCode>251630</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251630</ExpertLink>
+      <Name lang="en">Anaplastic oligodendroglioma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
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+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
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+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
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+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25482530[PMID]</SourceOfValidation>
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+            <Name lang="en">protection of telomeres 1</Name>
+            <Symbol>POT1</Symbol>
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+              <Synonym lang="en">DKFZp586D211</Synonym>
+              <Synonym lang="en">hPot1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83822">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128513</Reference>
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+              <ExternalReference id="79360">
+                <Source>Genatlas</Source>
+                <Reference>POT1</Reference>
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+              <ExternalReference id="79358">
+                <Source>HGNC</Source>
+                <Reference>17284</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9NUX5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NUX5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+      <OrphaCode>251636</OrphaCode>
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+      <Name lang="en">Ependymoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">RELA proto-oncogene, NF-kB subunit</Name>
+            <Symbol>RELA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p65</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="88036">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173039</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RELA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9955</Reference>
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+              <ExternalReference id="87842">
+                <Source>OMIM</Source>
+                <Reference>164014</Reference>
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+              <ExternalReference id="88035">
+                <Source>Reactome</Source>
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+                <Reference>Q04206</Reference>
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+          <SourceOfValidation>24553141[PMID]</SourceOfValidation>
+          <Gene id="22678">
+            <Name lang="en">zinc finger translocation associated</Name>
+            <Symbol>ZFTA</Symbol>
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+              <Synonym lang="en">MGC3032</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188070</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C11orf95</Reference>
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+                <Reference>28449</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>C9JLR9</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2176</ExpertLink>
+      <Name lang="en">Infantile systemic hyalinosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14508707[PMID]</SourceOfValidation>
+          <Gene id="15933">
+            <Name lang="en">ANTXR cell adhesion molecule 2</Name>
+            <Symbol>ANTXR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMG-2</Synonym>
+              <Synonym lang="en">CMG2</Synonym>
+              <Synonym lang="en">FLJ31074</Synonym>
+              <Synonym lang="en">capillary morphogenesis protein 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163297</Reference>
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+              <ExternalReference id="28869">
+                <Source>Genatlas</Source>
+                <Reference>ANTXR2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21732</Reference>
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+              <ExternalReference id="28870">
+                <Source>OMIM</Source>
+                <Reference>608041</Reference>
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+              <ExternalReference id="91585">
+                <Source>Reactome</Source>
+                <Reference>P58335</Reference>
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+              <ExternalReference id="32945">
+                <Source>SwissProt</Source>
+                <Reference>P58335</Reference>
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+                <GeneLocus>4q21.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>251656</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251656</ExpertLink>
+      <Name lang="en">Oligoastrocytoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
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+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
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+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
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+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19672">
+      <OrphaCode>251663</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251663</ExpertLink>
+      <Name lang="en">Anaplastic oligoastrocytoma</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000182054</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+                <Reference>5383</Reference>
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+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Angiocentric glioma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26829751[PMID]</SourceOfValidation>
+          <Gene id="20089">
+            <Name lang="en">MYB proto-oncogene, transcription factor</Name>
+            <Symbol>MYB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">c-myb</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59486">
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+                <Reference>ENSG00000118513</Reference>
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+              <ExternalReference id="51241">
+                <Source>Genatlas</Source>
+                <Reference>MYB</Reference>
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+              <ExternalReference id="51239">
+                <Source>HGNC</Source>
+                <Reference>7545</Reference>
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+                <Source>OMIM</Source>
+                <Reference>189990</Reference>
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+              <ExternalReference id="59487">
+                <Source>Reactome</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">QKI, KH domain containing RNA binding</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Reference>Q96PU8</Reference>
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+      <Name lang="en">Hydrolethalus</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Genatlas</Source>
+                <Reference>MGMT</Reference>
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+              <ExternalReference id="79265">
+                <Source>HGNC</Source>
+                <Reference>7059</Reference>
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+                <Source>OMIM</Source>
+                <Reference>156569</Reference>
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+              <ExternalReference id="83807">
+                <Source>Reactome</Source>
+                <Reference>P16455</Reference>
+              </ExternalReference>
+              <ExternalReference id="79268">
+                <Source>SwissProt</Source>
+                <Reference>P16455</Reference>
+              </ExternalReference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24075187[PMID]_24071942[PMID]</SourceOfValidation>
+          <Gene id="15917">
+            <Name lang="en">epidermal growth factor receptor</Name>
+            <Symbol>EGFR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ERBB1</Synonym>
+              <Synonym lang="en">ERRP</Synonym>
+              <Synonym lang="en">erb-b2 receptor tyrosine kinase 1</Synonym>
+              <Synonym lang="en">erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58722">
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+                <Reference>ENSG00000146648</Reference>
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+              <ExternalReference id="28800">
+                <Source>Genatlas</Source>
+                <Reference>EGFR</Reference>
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+              <ExternalReference id="28798">
+                <Source>HGNC</Source>
+                <Reference>3236</Reference>
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+              <ExternalReference id="82891">
+                <Source>IUPHAR</Source>
+                <Reference>1797</Reference>
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+                <Reference>131550</Reference>
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+              <ExternalReference id="58723">
+                <Source>Reactome</Source>
+                <Reference>P00533</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00533</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22837387[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22837387[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
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+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
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+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17785346[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
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+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
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+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">ERIC1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000013810</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Hidradenitis suppurativa</Name>
+      <DisorderType id="21394">
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+            <Symbol>NCSTN</Symbol>
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+              <Synonym lang="en">APH2</Synonym>
+              <Synonym lang="en">KIAA0253</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58146">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162736</Reference>
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+              <ExternalReference id="51851">
+                <Source>Genatlas</Source>
+                <Reference>NCSTN</Reference>
+              </ExternalReference>
+              <ExternalReference id="51849">
+                <Source>HGNC</Source>
+                <Reference>17091</Reference>
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+              <ExternalReference id="51850">
+                <Source>OMIM</Source>
+                <Reference>605254</Reference>
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+              <ExternalReference id="83203">
+                <Source>Reactome</Source>
+                <Reference>Q92542</Reference>
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+              <ExternalReference id="82568">
+                <Source>SwissProt</Source>
+                <Reference>Q92542</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21323">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20929727[PMID]_23096707[PMID]</SourceOfValidation>
+          <Gene id="20182">
+            <Name lang="en">presenilin enhancer, gamma-secretase subunit</Name>
+            <Symbol>PSENEN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PEN2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58147">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205155</Reference>
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+              <ExternalReference id="51856">
+                <Source>Genatlas</Source>
+                <Reference>PSENEN</Reference>
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+              <ExternalReference id="51854">
+                <Source>HGNC</Source>
+                <Reference>30100</Reference>
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+              <ExternalReference id="51855">
+                <Source>OMIM</Source>
+                <Reference>607632</Reference>
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+              <ExternalReference id="58148">
+                <Source>Reactome</Source>
+                <Reference>Q9NZ42</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZ42</Reference>
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+                <GeneLocus>19q13.12</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19650">
+      <OrphaCode>251579</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251579</ExpertLink>
+      <Name lang="en">Giant cell glioblastoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="12">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10851250[PMID]</SourceOfValidation>
+          <Gene id="15129">
+            <Name lang="en">peroxisome proliferator activated receptor gamma</Name>
+            <Symbol>PPARG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NR1C3</Synonym>
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+              <Synonym lang="en">PPARG2</Synonym>
+              <Synonym lang="en">PPARgamma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132170</Reference>
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+              <ExternalReference id="25051">
+                <Source>Genatlas</Source>
+                <Reference>PPARG</Reference>
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+              <ExternalReference id="25049">
+                <Source>HGNC</Source>
+                <Reference>9236</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>595</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601487</Reference>
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+              <ExternalReference id="58728">
+                <Source>Reactome</Source>
+                <Reference>P37231</Reference>
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+                <Reference>P37231</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25215581[PMID]</SourceOfValidation>
+          <Gene id="17400">
+            <Name lang="en">NFKB inhibitor alpha</Name>
+            <Symbol>NFKBIA</Symbol>
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+              <Synonym lang="en">IKBA</Synonym>
+              <Synonym lang="en">IkappaBalpha</Synonym>
+              <Synonym lang="en">MAD-3</Synonym>
+              <Synonym lang="en">NF-kappa-B inhibitor alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100906</Reference>
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+              <ExternalReference id="37271">
+                <Source>Genatlas</Source>
+                <Reference>NFKBIA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7797</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164008</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P25963</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P25963</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22380407[PMID]_20556478[PMID]</SourceOfValidation>
+          <Gene id="22077">
+            <Name lang="en">O-6-methylguanine-DNA methyltransferase</Name>
+            <Symbol>MGMT</Symbol>
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+              <Synonym lang="en">methylated-DNA--protein-cysteine methyltransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83808">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170430</Reference>
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+              <ExternalReference id="79267">
+                <Source>Genatlas</Source>
+                <Reference>MGMT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7059</Reference>
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+              <ExternalReference id="79266">
+                <Source>OMIM</Source>
+                <Reference>156569</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P16455</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16455</Reference>
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+              <Locus id="22597">
+                <GeneLocus>10q26.3</GeneLocus>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24075187[PMID]_24071942[PMID]</SourceOfValidation>
+          <Gene id="15917">
+            <Name lang="en">epidermal growth factor receptor</Name>
+            <Symbol>EGFR</Symbol>
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+              <Synonym lang="en">ERBB1</Synonym>
+              <Synonym lang="en">ERRP</Synonym>
+              <Synonym lang="en">erb-b2 receptor tyrosine kinase 1</Synonym>
+              <Synonym lang="en">erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58722">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146648</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EGFR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3236</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1797</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P00533</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00533</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">fibroblast growth factor receptor 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22837387[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
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+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22837387[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O75410</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18772396[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138413</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>147700</Reference>
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+              <ExternalReference id="83344">
+                <Source>Reactome</Source>
+                <Reference>O75874</Reference>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24075187[PMID]_24071842[PMID]</SourceOfValidation>
+          <Gene id="22431">
+            <Name lang="en">leucine zipper like transcription regulator 1</Name>
+            <Symbol>LZTR1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BTBD29</Synonym>
+              <Synonym lang="en">LZTR-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="82309">
+                <Source>SwissProt</Source>
+                <Reference>Q8N653</Reference>
+              </ExternalReference>
+              <ExternalReference id="84065">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099949</Reference>
+              </ExternalReference>
+              <ExternalReference id="82308">
+                <Source>Genatlas</Source>
+                <Reference>LZTR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="82306">
+                <Source>HGNC</Source>
+                <Reference>6742</Reference>
+              </ExternalReference>
+              <ExternalReference id="82307">
+                <Source>OMIM</Source>
+                <Reference>600574</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12883">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24075187[PMID]_24071942[PMID]</SourceOfValidation>
+          <Gene id="22432">
+            <Name lang="en">septin 14</Name>
+            <Symbol>SEPTIN14</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ44060</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84066">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154997</Reference>
+              </ExternalReference>
+              <ExternalReference id="82313">
+                <Source>Genatlas</Source>
+                <Reference>SEPT14</Reference>
+              </ExternalReference>
+              <ExternalReference id="82311">
+                <Source>HGNC</Source>
+                <Reference>33280</Reference>
+              </ExternalReference>
+              <ExternalReference id="82312">
+                <Source>OMIM</Source>
+                <Reference>612140</Reference>
+              </ExternalReference>
+              <ExternalReference id="82314">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZU15</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12885">
+                <GeneLocus>7p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19652">
+      <OrphaCode>251589</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251589</ExpertLink>
+      <Name lang="en">Anaplastic astrocytoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24993250[PMID]_19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
+              </ExternalReference>
+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
+              </ExternalReference>
+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
+              </ExternalReference>
+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19655">
+      <OrphaCode>251598</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251598</ExpertLink>
+      <Name lang="en">Protoplasmic astrocytoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
+              </ExternalReference>
+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
+              </ExternalReference>
+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
+              </ExternalReference>
+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19657">
+      <OrphaCode>251604</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251604</ExpertLink>
+      <Name lang="en">Gemistocytic astrocytoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
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+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
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+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
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+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
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+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19656">
+      <OrphaCode>251601</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251601</ExpertLink>
+      <Name lang="en">Fibrillary astrocytoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
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+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+              <ExternalReference id="49957">
+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
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+              <ExternalReference id="49958">
+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
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+              <ExternalReference id="59363">
+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
+              </ExternalReference>
+              <ExternalReference id="49959">
+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
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+              <ExternalReference id="190438">
+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
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+            <LocusList count="1">
+              <Locus id="60285">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="19660">
+      <OrphaCode>251615</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251615</ExpertLink>
+      <Name lang="en">Pilomyxoid astrocytoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_21190184[PMID]</SourceOfValidation>
+          <Gene id="15376">
+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>BRAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRAF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56979">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157764</Reference>
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+              <ExternalReference id="26223">
+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
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+              <ExternalReference id="26221">
+                <Source>HGNC</Source>
+                <Reference>1097</Reference>
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+              <ExternalReference id="82791">
+                <Source>IUPHAR</Source>
+                <Reference>1943</Reference>
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+              <ExternalReference id="26220">
+                <Source>OMIM</Source>
+                <Reference>164757</Reference>
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+              <ExternalReference id="56980">
+                <Source>Reactome</Source>
+                <Reference>P15056</Reference>
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+              <ExternalReference id="33933">
+                <Source>SwissProt</Source>
+                <Reference>P15056</Reference>
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+                <GeneLocus>7q34</GeneLocus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_18974108[PMID]</SourceOfValidation>
+          <Gene id="15376">
+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>BRAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRAF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56979">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157764</Reference>
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+              <ExternalReference id="26223">
+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
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+              <ExternalReference id="26221">
+                <Source>HGNC</Source>
+                <Reference>1097</Reference>
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+              <ExternalReference id="82791">
+                <Source>IUPHAR</Source>
+                <Reference>1943</Reference>
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+              <ExternalReference id="26220">
+                <Source>OMIM</Source>
+                <Reference>164757</Reference>
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+              <ExternalReference id="56980">
+                <Source>Reactome</Source>
+                <Reference>P15056</Reference>
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+              <ExternalReference id="33933">
+                <Source>SwissProt</Source>
+                <Reference>P15056</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_21424530[PMID]_19373855[PMID]_17712732[PMID]</SourceOfValidation>
+          <Gene id="16312">
+            <Name lang="en">KRAS proto-oncogene, GTPase</Name>
+            <Symbol>KRAS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K-Ras4B</Synonym>
+              <Synonym lang="en">KRAS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193582">
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+                <Reference>2824</Reference>
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+              <ExternalReference id="56977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133703</Reference>
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+              <ExternalReference id="30720">
+                <Source>Genatlas</Source>
+                <Reference>KRAS</Reference>
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+              <ExternalReference id="30718">
+                <Source>HGNC</Source>
+                <Reference>6407</Reference>
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+              <ExternalReference id="30717">
+                <Source>OMIM</Source>
+                <Reference>190070</Reference>
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+              <ExternalReference id="56978">
+                <Source>Reactome</Source>
+                <Reference>P01116</Reference>
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+              <ExternalReference id="33377">
+                <Source>SwissProt</Source>
+                <Reference>P01116</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_19363522[PMID]</SourceOfValidation>
+          <Gene id="16828">
+            <Name lang="en">Raf-1 proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>RAF1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Raf proto-oncogene, serine/threonine kinase</Synonym>
+              <Synonym lang="en">CRAF</Synonym>
+              <Synonym lang="en">Raf-1</Synonym>
+              <Synonym lang="en">c-Raf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000132155</Reference>
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+              <ExternalReference id="35143">
+                <Source>Genatlas</Source>
+                <Reference>RAF1</Reference>
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+              <ExternalReference id="35146">
+                <Source>HGNC</Source>
+                <Reference>9829</Reference>
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+              <ExternalReference id="83038">
+                <Source>IUPHAR</Source>
+                <Reference>2184</Reference>
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+              <ExternalReference id="37602">
+                <Source>OMIM</Source>
+                <Reference>164760</Reference>
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+              <ExternalReference id="56982">
+                <Source>Reactome</Source>
+                <Reference>P04049</Reference>
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+              <ExternalReference id="35144">
+                <Source>SwissProt</Source>
+                <Reference>P04049</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23817572[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000077782</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+                <Reference>P11362</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_19363522[PMID]</SourceOfValidation>
+          <Gene id="22281">
+            <Name lang="en">SLIT-ROBO Rho GTPase activating protein 3</Name>
+            <Symbol>SRGAP3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARHGAP14</Synonym>
+              <Synonym lang="en">KIAA0411</Synonym>
+              <Synonym lang="en">MEGAP</Synonym>
+              <Synonym lang="en">WRP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000196220</Reference>
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+              <ExternalReference id="81424">
+                <Source>Genatlas</Source>
+                <Reference>SRGAP3</Reference>
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+              <ExternalReference id="81422">
+                <Source>HGNC</Source>
+                <Reference>19744</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606525</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43295</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43295</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23817572[PMID]</SourceOfValidation>
+          <Gene id="22282">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 2</Name>
+            <Symbol>NTRK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BDNF/NT-3 growth factors receptor</Synonym>
+              <Synonym lang="en">TRKB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>8032</Reference>
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+                <Reference>1818</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600456</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q16620</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16620</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148053</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22159586[PMID]_18974108[PMID]</SourceOfValidation>
+          <Gene id="22149">
+            <Name lang="en">KIAA1549</Name>
+            <Symbol>KIAA1549</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9HCM3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HCM3</Reference>
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+              <ExternalReference id="83833">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122778</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIAA1549</Reference>
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+                <Source>HGNC</Source>
+                <Reference>22219</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251627</ExpertLink>
+      <Name lang="en">Oligodendroglioma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000182054</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Methionine synthase reductase</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Hypodontia</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">msh homeobox 1</Name>
+            <Symbol>MSX1</Symbol>
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+                <Reference>P28360</Reference>
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+                <Reference>ENSG00000163132</Reference>
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+            <Name lang="en">paired box 9</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Wnt family member 10A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">cytokeratin 9</Synonym>
+              <Synonym lang="en">epidermolytic palmoplantar keratoderma</Synonym>
+              <Synonym lang="en">type I cytoskeletal 9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58158">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171403</Reference>
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+              <ExternalReference id="30798">
+                <Source>Genatlas</Source>
+                <Reference>KRT9</Reference>
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+              <ExternalReference id="30796">
+                <Source>HGNC</Source>
+                <Reference>6447</Reference>
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+              <ExternalReference id="30795">
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+                <Reference>607606</Reference>
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+              <ExternalReference id="33394">
+                <Source>SwissProt</Source>
+                <Reference>P35527</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8595410[PMID]</SourceOfValidation>
+          <Gene id="16318">
+            <Name lang="en">keratin 16</Name>
+            <Symbol>KRT16</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEPPK</Synonym>
+              <Synonym lang="en">focal non-epidermolytic palmoplantar keratoderma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186832</Reference>
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+                <Reference>KRT16</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6423</Reference>
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+                <Reference>148067</Reference>
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+              <ExternalReference id="33383">
+                <Source>SwissProt</Source>
+                <Reference>P08779</Reference>
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+                <Reference>P08779</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>251863</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251863</ExpertLink>
+      <Name lang="en">Desmoplastic/nodular medulloblastoma</Name>
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+        <Name lang="en">Histopathological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Synonym lang="en">SUFUH</Synonym>
+              <Synonym lang="en">SUFUXL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97184">
+                <Source>Reactome</Source>
+                <Reference>Q9UMX1</Reference>
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+              <ExternalReference id="32540">
+                <Source>SwissProt</Source>
+                <Reference>Q9UMX1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107882</Reference>
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+                <Reference>SUFU</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16466</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607035</Reference>
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+      <OrphaCode>2198</OrphaCode>
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+      <Name lang="en">Palmoplantar keratoderma-esophageal carcinoma syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22265016[PMID]</SourceOfValidation>
+          <Gene id="20815">
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+            <Symbol>RHBDF2</Symbol>
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+              <Synonym lang="en">FLJ22341</Synonym>
+              <Synonym lang="en">RHBDL5</Synonym>
+              <Synonym lang="en">TOCG</Synonym>
+              <Synonym lang="en">iRhom2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83266">
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+                <Reference>ENSG00000129667</Reference>
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+              <ExternalReference id="61047">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20788</Reference>
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+              <ExternalReference id="61046">
+                <Source>OMIM</Source>
+                <Reference>614404</Reference>
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+              <ExternalReference id="61048">
+                <Source>SwissProt</Source>
+                <Reference>Q6PJF5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Medulloblastoma with extensive nodularity</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97184">
+                <Source>Reactome</Source>
+                <Reference>Q9UMX1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UMX1</Reference>
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+              <ExternalReference id="60476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107882</Reference>
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+      <Name lang="en">Palmoplantar keratoderma-deafness syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165474</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301638[PMID]</SourceOfValidation>
+          <Gene id="16139">
+            <Name lang="en">GLI family zinc finger 3</Name>
+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106571</Reference>
+              </ExternalReference>
+              <ExternalReference id="29898">
+                <Source>Genatlas</Source>
+                <Reference>GLI3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29896">
+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
+              </ExternalReference>
+              <ExternalReference id="29895">
+                <Source>OMIM</Source>
+                <Reference>165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="97225">
+                <Source>Reactome</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+              <ExternalReference id="33155">
+                <Source>SwissProt</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21229">
+                <GeneLocus>7p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2141">
+      <OrphaCode>455</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=455</ExpertLink>
+      <Name lang="en">Superficial epidermolytic ichthyosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15949009[PMID]</SourceOfValidation>
+          <Gene id="16320">
+            <Name lang="en">keratin 2</Name>
+            <Symbol>KRT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KRTE</Synonym>
+              <Synonym lang="en">epidermal ichthyosis bullosa of Siemens</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58171">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172867</Reference>
+              </ExternalReference>
+              <ExternalReference id="37504">
+                <Source>Genatlas</Source>
+                <Reference>KRT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30755">
+                <Source>HGNC</Source>
+                <Reference>6439</Reference>
+              </ExternalReference>
+              <ExternalReference id="30754">
+                <Source>OMIM</Source>
+                <Reference>600194</Reference>
+              </ExternalReference>
+              <ExternalReference id="33385">
+                <Source>SwissProt</Source>
+                <Reference>P35908</Reference>
+              </ExternalReference>
+              <ExternalReference id="126350">
+                <Source>Reactome</Source>
+                <Reference>P35908</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26685">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19612">
+      <OrphaCode>251061</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251061</ExpertLink>
+      <Name lang="en">7q31 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17330859[PMID]_22144704[PMID]</SourceOfValidation>
+          <Gene id="18732">
+            <Name lang="en">forkhead box P2</Name>
+            <Symbol>FOXP2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAG repeat protein 44</Synonym>
+              <Synonym lang="en">CAGH44</Synonym>
+              <Synonym lang="en">forkhead/winged-helix transcription factor</Synonym>
+              <Synonym lang="en">speech and language disorder 1</Synonym>
+              <Synonym lang="en">trinucleotide repeat containing 10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128573</Reference>
+              </ExternalReference>
+              <ExternalReference id="43401">
+                <Source>Genatlas</Source>
+                <Reference>FOXP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="43402">
+                <Source>HGNC</Source>
+                <Reference>13875</Reference>
+              </ExternalReference>
+              <ExternalReference id="43403">
+                <Source>OMIM</Source>
+                <Reference>605317</Reference>
+              </ExternalReference>
+              <ExternalReference id="43404">
+                <Source>SwissProt</Source>
+                <Reference>O15409</Reference>
+              </ExternalReference>
+              <ExternalReference id="142829">
+                <Source>Reactome</Source>
+                <Reference>O15409</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37375">
+                <GeneLocus>7q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19613">
+      <OrphaCode>251066</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251066</ExpertLink>
+      <Name lang="en">8p11.2 deletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22771917[PMID]</SourceOfValidation>
+          <Gene id="15930">
+            <Name lang="en">ankyrin 1</Name>
+            <Symbol>ANK1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SPH1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58434">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000029534</Reference>
+              </ExternalReference>
+              <ExternalReference id="28857">
+                <Source>Genatlas</Source>
+                <Reference>ANK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28855">
+                <Source>HGNC</Source>
+                <Reference>492</Reference>
+              </ExternalReference>
+              <ExternalReference id="40651">
+                <Source>OMIM</Source>
+                <Reference>612641</Reference>
+              </ExternalReference>
+              <ExternalReference id="58435">
+                <Source>Reactome</Source>
+                <Reference>P16157</Reference>
+              </ExternalReference>
+              <ExternalReference id="32942">
+                <Source>SwissProt</Source>
+                <Reference>P16157</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8317">
+                <GeneLocus>8p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19614">
+      <OrphaCode>251071</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251071</ExpertLink>
+      <Name lang="en">8p23.1 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10090897[PMID]_19606479[PMID]</SourceOfValidation>
+          <Gene id="16104">
+            <Name lang="en">GATA binding protein 4</Name>
+            <Symbol>GATA4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136574</Reference>
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+              <ExternalReference id="29724">
+                <Source>Genatlas</Source>
+                <Reference>GATA4</Reference>
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+              <ExternalReference id="29726">
+                <Source>HGNC</Source>
+                <Reference>4173</Reference>
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+              <ExternalReference id="29725">
+                <Source>OMIM</Source>
+                <Reference>600576</Reference>
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+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
+                <Reference>P43694</Reference>
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+              <ExternalReference id="33119">
+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
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+            <LocusList count="1">
+              <Locus id="25853">
+                <GeneLocus>8p23.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="2142">
+      <OrphaCode>2273</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2273</ExpertLink>
+      <Name lang="en">Ichthyosis follicularis-alopecia-photophobia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21600032[PMID]</SourceOfValidation>
+          <Gene id="18365">
+            <Name lang="en">membrane bound transcription factor peptidase, site 2</Name>
+            <Symbol>MBTPS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S2P</Synonym>
+              <Synonym lang="en">site-2 protease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012174</Reference>
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+              <ExternalReference id="41779">
+                <Source>Genatlas</Source>
+                <Reference>MBTPS2</Reference>
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+              <ExternalReference id="41780">
+                <Source>HGNC</Source>
+                <Reference>15455</Reference>
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+              <ExternalReference id="41781">
+                <Source>OMIM</Source>
+                <Reference>300294</Reference>
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+              <ExternalReference id="58173">
+                <Source>Reactome</Source>
+                <Reference>O43462</Reference>
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+              <ExternalReference id="43768">
+                <Source>SwissProt</Source>
+                <Reference>O43462</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2136">
+      <OrphaCode>139</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=139</ExpertLink>
+      <Name lang="en">CHILD syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>10710235[PMID]_11907515[PMID]</SourceOfValidation>
+          <Gene id="16578">
+            <Name lang="en">NAD(P) dependent steroid dehydrogenase-like</Name>
+            <Symbol>NSDHL</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">H105e3</Synonym>
+              <Synonym lang="en">SDR31E1</Synonym>
+              <Synonym lang="en">XAP104</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 31E, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147383</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NSDHL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13398</Reference>
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+              <ExternalReference id="31958">
+                <Source>OMIM</Source>
+                <Reference>300275</Reference>
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+              <ExternalReference id="58170">
+                <Source>Reactome</Source>
+                <Reference>Q15738</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15738</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Harlequin ichthyosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ATP binding cassette subfamily A member 12</Name>
+            <Symbol>ABCA12</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP434G232</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>14637</Reference>
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+              <ExternalReference id="82725">
+                <Source>IUPHAR</Source>
+                <Reference>766</Reference>
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+              <ExternalReference id="24655">
+                <Source>OMIM</Source>
+                <Reference>607800</Reference>
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+              <ExternalReference id="57075">
+                <Source>Reactome</Source>
+                <Reference>Q86UK0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UK0</Reference>
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+              <ExternalReference id="57074">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144452</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">6q25 microdeletion syndrome</Name>
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+            <Name lang="en">AT-rich interaction domain 1B</Name>
+            <Symbol>ARID1B</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">BAF250b</Synonym>
+              <Synonym lang="en">DAN15</Synonym>
+              <Synonym lang="en">ELD/OSA1</Synonym>
+              <Synonym lang="en">KIAA1235</Synonym>
+              <Synonym lang="en">SMARCF2</Synonym>
+              <Synonym lang="en">p250R</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049618</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ARID1B</Reference>
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+              <ExternalReference id="61207">
+                <Source>HGNC</Source>
+                <Reference>18040</Reference>
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+              <ExternalReference id="61208">
+                <Source>OMIM</Source>
+                <Reference>614556</Reference>
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+              <ExternalReference id="91595">
+                <Source>Reactome</Source>
+                <Reference>Q8NFD5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NFD5</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="2112">
+      <OrphaCode>2239</OrphaCode>
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+      <Name lang="en">Familial isolated hypoparathyroidism due to agenesis of parathyroid gland</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>11602629[PMID]</SourceOfValidation>
+          <Gene id="17371">
+            <Name lang="en">glial cells missing transcription factor 2</Name>
+            <Symbol>GCM2</Symbol>
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+              <Synonym lang="en">hGCMb</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="37087">
+                <Source>HGNC</Source>
+                <Reference>4198</Reference>
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+              <ExternalReference id="37088">
+                <Source>OMIM</Source>
+                <Reference>603716</Reference>
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+              <ExternalReference id="37089">
+                <Source>SwissProt</Source>
+                <Reference>O75603</Reference>
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+              <ExternalReference id="58166">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124827</Reference>
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+              <ExternalReference id="37086">
+                <Source>Genatlas</Source>
+                <Reference>GCM2</Reference>
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+              <ExternalReference id="142814">
+                <Source>Reactome</Source>
+                <Reference>O75603</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2113">
+      <OrphaCode>2241</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2241</ExpertLink>
+      <Name lang="en">Megacystis-microcolon-intestinal hypoperistalsis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28292896[PMID]</SourceOfValidation>
+          <Gene id="25435">
+            <Name lang="en">leiomodin 1</Name>
+            <Symbol>LMOD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">1D</Synonym>
+              <Synonym lang="en">64kD</Synonym>
+              <Synonym lang="en">D1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143770">
+                <Source>HGNC</Source>
+                <Reference>6647</Reference>
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+              <ExternalReference id="143771">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163431</Reference>
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+              <ExternalReference id="143772">
+                <Source>SwissProt</Source>
+                <Reference>P29536</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602715</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LMOD1</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16496">
+            <Name lang="en">myosin heavy chain 11</Name>
+            <Symbol>MYH11</Symbol>
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+              <Synonym lang="en">SMHC</Synonym>
+              <Synonym lang="en">SMMHC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58473">
+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>MYH11</Reference>
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+              <ExternalReference id="31568">
+                <Source>HGNC</Source>
+                <Reference>7569</Reference>
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+              <ExternalReference id="31567">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="33561">
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+                <Reference>P35749</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24676022[PMID]</SourceOfValidation>
+          <Gene id="21732">
+            <Name lang="en">actin gamma 2, smooth muscle</Name>
+            <Symbol>ACTG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ACTSG</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163017</Reference>
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+              <ExternalReference id="76096">
+                <Source>Genatlas</Source>
+                <Reference>ACTG2</Reference>
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+              <ExternalReference id="83611">
+                <Source>Reactome</Source>
+                <Reference>P63267</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P63267</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28602422[PMID]</SourceOfValidation>
+          <Gene id="19503">
+            <Name lang="en">myosin light chain kinase</Name>
+            <Symbol>MYLK</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">MLCK1</Synonym>
+              <Synonym lang="en">MYLK1</Synonym>
+              <Synonym lang="en">smMLCK</Synonym>
+              <Synonym lang="en">smooth muscle myosin light chain kinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59649">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065534</Reference>
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+              <ExternalReference id="49886">
+                <Source>Genatlas</Source>
+                <Reference>MYLK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7590</Reference>
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+              <ExternalReference id="83187">
+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>600922</Reference>
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+              <ExternalReference id="59650">
+                <Source>Reactome</Source>
+                <Reference>Q15746</Reference>
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+                <Source>SwissProt</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=250984</ExpertLink>
+      <Name lang="en">Autosomal recessive Stickler syndrome</Name>
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+            <Name lang="en">collagen type XI alpha 1 chain</Name>
+            <Symbol>COL11A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CO11A1</Synonym>
+              <Synonym lang="en">STL2</Synonym>
+              <Synonym lang="en">collagen XI, alpha-1 polypeptide</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060718</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="15783">
+            <Name lang="en">collagen type IX alpha 1 chain</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>21671392[PMID]</SourceOfValidation>
+          <Gene id="15784">
+            <Name lang="en">collagen type IX alpha 2 chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000049089</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q14055</Reference>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">collagen type IX proteoglycan</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">lysyl oxidase like 3</Name>
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+      <Name lang="en">AICA-ribosiduria</Name>
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+            <Name lang="en">5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase</Name>
+            <Symbol>ATIC</Symbol>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome</Name>
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+          <Gene id="21703">
+            <Name lang="en">structural maintenance of chromosomes flexible hinge domain containing 1</Name>
+            <Symbol>SMCHD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FSHD2</Synonym>
+              <Synonym lang="en">KIAA0650</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101596</Reference>
+              </ExternalReference>
+              <ExternalReference id="75866">
+                <Source>Genatlas</Source>
+                <Reference>SMCHD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="75864">
+                <Source>HGNC</Source>
+                <Reference>29090</Reference>
+              </ExternalReference>
+              <ExternalReference id="75865">
+                <Source>OMIM</Source>
+                <Reference>614982</Reference>
+              </ExternalReference>
+              <ExternalReference id="75867">
+                <Source>SwissProt</Source>
+                <Reference>A6NHR9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12273">
+                <GeneLocus>18p11.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19593">
+      <OrphaCode>250923</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=250923</ExpertLink>
+      <Name lang="en">Isolated aniridia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301534[PMID]_9138149[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
+              </ExternalReference>
+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
+              </ExternalReference>
+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26394807[PMID]</SourceOfValidation>
+          <Gene id="23523">
+            <Name lang="en">tripartite motif containing 44</Name>
+            <Symbol>TRIM44</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DIPB</Synonym>
+              <Synonym lang="en">MC7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143899">
+                <Source>Reactome</Source>
+                <Reference>Q96DX7</Reference>
+              </ExternalReference>
+              <ExternalReference id="97848">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166326</Reference>
+              </ExternalReference>
+              <ExternalReference id="97846">
+                <Source>Genatlas</Source>
+                <Reference>TRIM44</Reference>
+              </ExternalReference>
+              <ExternalReference id="97844">
+                <Source>HGNC</Source>
+                <Reference>19016</Reference>
+              </ExternalReference>
+              <ExternalReference id="97845">
+                <Source>OMIM</Source>
+                <Reference>612298</Reference>
+              </ExternalReference>
+              <ExternalReference id="97847">
+                <Source>SwissProt</Source>
+                <Reference>Q96DX7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39263">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19279310[PMID]_27124303[PMID]</SourceOfValidation>
+          <Gene id="16064">
+            <Name lang="en">forkhead box C1</Name>
+            <Symbol>FOXC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARA</Synonym>
+              <Synonym lang="en">FREAC3</Synonym>
+              <Synonym lang="en">IGDA</Synonym>
+              <Synonym lang="en">IHG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="29534">
+                <Source>OMIM</Source>
+                <Reference>601090</Reference>
+              </ExternalReference>
+              <ExternalReference id="33079">
+                <Source>SwissProt</Source>
+                <Reference>Q12948</Reference>
+              </ExternalReference>
+              <ExternalReference id="58298">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054598</Reference>
+              </ExternalReference>
+              <ExternalReference id="29533">
+                <Source>Genatlas</Source>
+                <Reference>FOXC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29535">
+                <Source>HGNC</Source>
+                <Reference>3800</Reference>
+              </ExternalReference>
+              <ExternalReference id="143482">
+                <Source>Reactome</Source>
+                <Reference>Q12948</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38669">
+                <GeneLocus>6p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19595">
+      <OrphaCode>250972</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=250972</ExpertLink>
+      <Name lang="en">Polymicrogyria with optic nerve hypoplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19896110[PMID]</SourceOfValidation>
+          <Gene id="19847">
+            <Name lang="en">tubulin alpha 8</Name>
+            <Symbol>TUBA8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60471">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183785</Reference>
+              </ExternalReference>
+              <ExternalReference id="50887">
+                <Source>Genatlas</Source>
+                <Reference>TUBA8</Reference>
+              </ExternalReference>
+              <ExternalReference id="50885">
+                <Source>HGNC</Source>
+                <Reference>12410</Reference>
+              </ExternalReference>
+              <ExternalReference id="50886">
+                <Source>OMIM</Source>
+                <Reference>605742</Reference>
+              </ExternalReference>
+              <ExternalReference id="98090">
+                <Source>Reactome</Source>
+                <Reference>Q9NY65</Reference>
+              </ExternalReference>
+              <ExternalReference id="50888">
+                <Source>SwissProt</Source>
+                <Reference>Q9NY65</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22151">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2123">
+      <OrphaCode>2255</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2255</ExpertLink>
+      <Name lang="en">Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22158542[PMID]_22962692[PMID]</SourceOfValidation>
+          <Gene id="20796">
+            <Name lang="en">GATA binding protein 6</Name>
+            <Symbol>GATA6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60724">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141448</Reference>
+              </ExternalReference>
+              <ExternalReference id="60725">
+                <Source>Genatlas</Source>
+                <Reference>GATA6</Reference>
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+              <ExternalReference id="60722">
+                <Source>HGNC</Source>
+                <Reference>4174</Reference>
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+              <ExternalReference id="60723">
+                <Source>OMIM</Source>
+                <Reference>601656</Reference>
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+              <ExternalReference id="83245">
+                <Source>Reactome</Source>
+                <Reference>Q92908</Reference>
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+              <ExternalReference id="60726">
+                <Source>SwissProt</Source>
+                <Reference>Q92908</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>18q11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <OrphaCode>251380</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251380</ExpertLink>
+      <Name lang="en">Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301551[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+                <GeneLocus>11p15.4</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16861">
+            <Name lang="en">BAF chromatin remodeling complex subunit BCL11A</Name>
+            <Symbol>BCL11A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BCL11A-L</Synonym>
+              <Synonym lang="en">BCL11A-S</Synonym>
+              <Synonym lang="en">BCL11A-XL</Synonym>
+              <Synonym lang="en">CTIP1</Synonym>
+              <Synonym lang="en">HBFQTL5</Synonym>
+              <Synonym lang="en">SMARCM1</Synonym>
+              <Synonym lang="en">ZNF856</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119866</Reference>
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+              <ExternalReference id="35262">
+                <Source>Genatlas</Source>
+                <Reference>BCL11A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13221</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606557</Reference>
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+              <ExternalReference id="35261">
+                <Source>SwissProt</Source>
+                <Reference>Q9H165</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8598197[PMID]_2468996[PMID]</SourceOfValidation>
+          <Gene id="19236">
+            <Name lang="en">hemoglobin subunit gamma 1</Name>
+            <Symbol>HBG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBG-T2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213934</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P69891</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>8598197[PMID]_2468996[PMID]</SourceOfValidation>
+          <Gene id="19237">
+            <Name lang="en">hemoglobin subunit gamma 2</Name>
+            <Symbol>HBG2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196565</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HBG2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4832</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142250</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P69892</Reference>
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+                <Reference>P69892</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20676099[PMID]</SourceOfValidation>
+          <Gene id="19340">
+            <Name lang="en">KLF transcription factor 1</Name>
+            <Symbol>KLF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EKLF</Synonym>
+              <Synonym lang="en">erythroid Kruppel-like factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58652">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105610</Reference>
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+              <ExternalReference id="48121">
+                <Source>Genatlas</Source>
+                <Reference>KLF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6345</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600599</Reference>
+              </ExternalReference>
+              <ExternalReference id="48124">
+                <Source>SwissProt</Source>
+                <Reference>Q13351</Reference>
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+                <GeneLocus>19p13.13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>251383</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251383</ExpertLink>
+      <Name lang="en">CK syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21129721[PMID]_21290788[PMID]</SourceOfValidation>
+          <Gene id="16578">
+            <Name lang="en">NAD(P) dependent steroid dehydrogenase-like</Name>
+            <Symbol>NSDHL</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">H105e3</Synonym>
+              <Synonym lang="en">SDR31E1</Synonym>
+              <Synonym lang="en">XAP104</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 31E, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58169">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147383</Reference>
+              </ExternalReference>
+              <ExternalReference id="31957">
+                <Source>Genatlas</Source>
+                <Reference>NSDHL</Reference>
+              </ExternalReference>
+              <ExternalReference id="31959">
+                <Source>HGNC</Source>
+                <Reference>13398</Reference>
+              </ExternalReference>
+              <ExternalReference id="31958">
+                <Source>OMIM</Source>
+                <Reference>300275</Reference>
+              </ExternalReference>
+              <ExternalReference id="58170">
+                <Source>Reactome</Source>
+                <Reference>Q15738</Reference>
+              </ExternalReference>
+              <ExternalReference id="33643">
+                <Source>SwissProt</Source>
+                <Reference>Q15738</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9525">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19636">
+      <OrphaCode>251370</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251370</ExpertLink>
+      <Name lang="en">Sickle cell-hemoglobin D disease syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301551[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
+              </ExternalReference>
+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
+              </ExternalReference>
+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
+              </ExternalReference>
+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11p15.4</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19637">
+      <OrphaCode>251375</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251375</ExpertLink>
+      <Name lang="en">Sickle cell-hemoglobin E disease syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301551[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
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+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19634">
+      <OrphaCode>251359</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251359</ExpertLink>
+      <Name lang="en">Sickle cell-beta-thalassemia disease syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301551[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19635">
+      <OrphaCode>251365</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251365</ExpertLink>
+      <Name lang="en">Sickle cell-hemoglobin C disease syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
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+              <Synonym lang="en">CD113t-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+      <Name lang="en">Juberg-Hayward syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">EFO2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171320</Reference>
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+                <Reference>ESCO2</Reference>
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+                <Reference>27230</Reference>
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+                <Reference>609353</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q56NI9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q56NI9</Reference>
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+      <Name lang="en">Hyperzincemia and hypercalprotectinemia</Name>
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+              <Synonym lang="en">CD2 antigen-binding protein 1</Synonym>
+              <Synonym lang="en">CD2 cytoplasmic tail-binding protein</Synonym>
+              <Synonym lang="en">CD2BP1</Synonym>
+              <Synonym lang="en">CD2BP1L</Synonym>
+              <Synonym lang="en">CD2BP1S</Synonym>
+              <Synonym lang="en">H-PIP</Synonym>
+              <Synonym lang="en">PAPAS</Synonym>
+              <Synonym lang="en">PEST phosphatase-interacting protein 1</Synonym>
+              <Synonym lang="en">PSTPIP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140368</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>UBR1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159459</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">KIAA1517</Synonym>
+              <Synonym lang="en">MGC2695</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150990</Reference>
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+                <Reference>Q8IY37</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>25613702[PMID]</SourceOfValidation>
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+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184937</Reference>
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+                <Reference>WT1</Reference>
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+                <Reference>12796</Reference>
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+                <Reference>P19544</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39273">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17644778[PMID]</SourceOfValidation>
+          <Gene id="24485">
+            <Name lang="en">doublesex and mab-3 related transcription factor 3</Name>
+            <Symbol>DMRT3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">testis-specific protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144110">
+                <Source>Genatlas</Source>
+                <Reference>DMRT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="132760">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQL9</Reference>
+              </ExternalReference>
+              <ExternalReference id="132044">
+                <Source>OMIM</Source>
+                <Reference>614754</Reference>
+              </ExternalReference>
+              <ExternalReference id="133497">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064218</Reference>
+              </ExternalReference>
+              <ExternalReference id="131302">
+                <Source>HGNC</Source>
+                <Reference>13909</Reference>
+              </ExternalReference>
+              <ExternalReference id="143874">
+                <Source>Reactome</Source>
+                <Reference>Q9NQL9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39663">
+                <GeneLocus>9p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22051515[PMID]</SourceOfValidation>
+          <Gene id="15541">
+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125398</Reference>
+              </ExternalReference>
+              <ExternalReference id="27026">
+                <Source>Genatlas</Source>
+                <Reference>SOX9</Reference>
+              </ExternalReference>
+              <ExternalReference id="27024">
+                <Source>HGNC</Source>
+                <Reference>11204</Reference>
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+              <ExternalReference id="27023">
+                <Source>OMIM</Source>
+                <Reference>608160</Reference>
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+              <ExternalReference id="97182">
+                <Source>Reactome</Source>
+                <Reference>P48436</Reference>
+              </ExternalReference>
+              <ExternalReference id="32512">
+                <Source>SwissProt</Source>
+                <Reference>P48436</Reference>
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+            <LocusList count="1">
+              <Locus id="16611">
+                <GeneLocus>17q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17493621[PMID]</SourceOfValidation>
+          <Gene id="15558">
+            <Name lang="en">sex determining region Y</Name>
+            <Symbol>SRY</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TDF</Synonym>
+              <Synonym lang="en">testis-determining factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184895</Reference>
+              </ExternalReference>
+              <ExternalReference id="27106">
+                <Source>Genatlas</Source>
+                <Reference>SRY</Reference>
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+              <ExternalReference id="27108">
+                <Source>HGNC</Source>
+                <Reference>11311</Reference>
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+              <ExternalReference id="27107">
+                <Source>OMIM</Source>
+                <Reference>480000</Reference>
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+              <ExternalReference id="97183">
+                <Source>Reactome</Source>
+                <Reference>Q05066</Reference>
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+              <ExternalReference id="32529">
+                <Source>SwissProt</Source>
+                <Reference>Q05066</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22071891[PMID]</SourceOfValidation>
+          <Gene id="15732">
+            <Name lang="en">WW domain containing oxidoreductase</Name>
+            <Symbol>WWOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FOR</Synonym>
+              <Synonym lang="en">SDR41C1</Synonym>
+              <Synonym lang="en">WOX1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 41C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59227">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186153</Reference>
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+              <ExternalReference id="37404">
+                <Source>Genatlas</Source>
+                <Reference>WWOX</Reference>
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+              <ExternalReference id="27927">
+                <Source>HGNC</Source>
+                <Reference>12799</Reference>
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+              <ExternalReference id="27926">
+                <Source>OMIM</Source>
+                <Reference>605131</Reference>
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+              <ExternalReference id="59228">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC7</Reference>
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+              <ExternalReference id="32704">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZC7</Reference>
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+                <GeneLocus>16q23.1-q23.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24549039[PMID]</SourceOfValidation>
+          <Gene id="15741">
+            <Name lang="en">zinc finger protein, FOG family member 2</Name>
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+              <Synonym lang="en">FOG2</Synonym>
+              <Synonym lang="en">ZC2HC11B</Synonym>
+              <Synonym lang="en">ZNF89B</Synonym>
+              <Synonym lang="en">hFOG-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57348">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169946</Reference>
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+              <ExternalReference id="37406">
+                <Source>Genatlas</Source>
+                <Reference>ZFPM2</Reference>
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+              <ExternalReference id="27968">
+                <Source>HGNC</Source>
+                <Reference>16700</Reference>
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+              <ExternalReference id="27967">
+                <Source>OMIM</Source>
+                <Reference>603693</Reference>
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+              <ExternalReference id="57349">
+                <Source>Reactome</Source>
+                <Reference>Q8WW38</Reference>
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+              <ExternalReference id="32713">
+                <Source>SwissProt</Source>
+                <Reference>Q8WW38</Reference>
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+            <LocusList count="1">
+              <Locus id="7961">
+                <GeneLocus>8q23</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21220346[PMID]</SourceOfValidation>
+          <Gene id="16104">
+            <Name lang="en">GATA binding protein 4</Name>
+            <Symbol>GATA4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136574</Reference>
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+              <ExternalReference id="29724">
+                <Source>Genatlas</Source>
+                <Reference>GATA4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4173</Reference>
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+              <ExternalReference id="29725">
+                <Source>OMIM</Source>
+                <Reference>600576</Reference>
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+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18384427[PMID]</SourceOfValidation>
+          <Gene id="16569">
+            <Name lang="en">nuclear receptor subfamily 0 group B member 1</Name>
+            <Symbol>NR0B1</Symbol>
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+              <Synonym lang="en">AHCH</Synonym>
+              <Synonym lang="en">DAX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57945">
+                <Source>Reactome</Source>
+                <Reference>P51843</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51843</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169297</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">ELP</Synonym>
+              <Synonym lang="en">FTZ1</Synonym>
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+              <Synonym lang="en">hSF-1</Synonym>
+              <Synonym lang="en">steroidogenic factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136931</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21129722[PMID]</SourceOfValidation>
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+            <Name lang="en">mitogen-activated protein kinase kinase kinase 1</Name>
+            <Symbol>MAP3K1</Symbol>
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+              <Synonym lang="en">MAPKKK1</Synonym>
+              <Synonym lang="en">MEKK</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000095015</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000124333</Reference>
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+                <Reference>VAMP7</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Pachyonychia congenita</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">keratin 16</Name>
+            <Symbol>KRT16</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEPPK</Synonym>
+              <Synonym lang="en">focal non-epidermolytic palmoplantar keratoderma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186832</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+                <Reference>6427</Reference>
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+      <Name lang="en">Localized junctional epidermolysis bullosa</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">collagen type XVII alpha 1 chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000065618</Reference>
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+              <ExternalReference id="36864">
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19618">
+      <OrphaCode>251274</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251274</ExpertLink>
+      <Name lang="en">Familial hyperaldosteronism type III</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24817817[PMID]</SourceOfValidation>
+          <Gene id="19239">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 5</Name>
+            <Symbol>KCNJ5</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CIR</Synonym>
+              <Synonym lang="en">G protein-activated inward rectifier potassium channel 4</Synonym>
+              <Synonym lang="en">GIRK4</Synonym>
+              <Synonym lang="en">KATP1</Synonym>
+              <Synonym lang="en">Kir3.4</Synonym>
+              <Synonym lang="en">LQT13</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60009">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120457</Reference>
+              </ExternalReference>
+              <ExternalReference id="46758">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ5</Reference>
+              </ExternalReference>
+              <ExternalReference id="46757">
+                <Source>HGNC</Source>
+                <Reference>6266</Reference>
+              </ExternalReference>
+              <ExternalReference id="83179">
+                <Source>IUPHAR</Source>
+                <Reference>437</Reference>
+              </ExternalReference>
+              <ExternalReference id="46759">
+                <Source>OMIM</Source>
+                <Reference>600734</Reference>
+              </ExternalReference>
+              <ExternalReference id="60010">
+                <Source>Reactome</Source>
+                <Reference>P48544</Reference>
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+              <ExternalReference id="46760">
+                <Source>SwissProt</Source>
+                <Reference>P48544</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26567">
+                <GeneLocus>11q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19616">
+      <OrphaCode>251262</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251262</ExpertLink>
+      <Name lang="en">Familial osteochondritis dissecans</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20137779[PMID]</SourceOfValidation>
+          <Gene id="15068">
+            <Name lang="en">aggrecan</Name>
+            <Symbol>ACAN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CSPGCP</Synonym>
+              <Synonym lang="en">aggrecan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59677">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157766</Reference>
+              </ExternalReference>
+              <ExternalReference id="37001">
+                <Source>Genatlas</Source>
+                <Reference>ACAN</Reference>
+              </ExternalReference>
+              <ExternalReference id="24749">
+                <Source>HGNC</Source>
+                <Reference>319</Reference>
+              </ExternalReference>
+              <ExternalReference id="24748">
+                <Source>OMIM</Source>
+                <Reference>155760</Reference>
+              </ExternalReference>
+              <ExternalReference id="82728">
+                <Source>Reactome</Source>
+                <Reference>P16112</Reference>
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+              <ExternalReference id="32345">
+                <Source>SwissProt</Source>
+                <Reference>P16112</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19631">
+      <OrphaCode>251347</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=251347</ExpertLink>
+      <Name lang="en">Ataxia-telangiectasia-like disorder</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10612394[PMID]</SourceOfValidation>
+          <Gene id="16465">
+            <Name lang="en">MRE11 homolog, double strand break repair nuclease</Name>
+            <Symbol>MRE11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AT-like disease</Synonym>
+              <Synonym lang="en">ATLD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000020922</Reference>
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+              <ExternalReference id="31428">
+                <Source>Genatlas</Source>
+                <Reference>MRE11A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7230</Reference>
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+              <ExternalReference id="31429">
+                <Source>OMIM</Source>
+                <Reference>600814</Reference>
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+              <ExternalReference id="60475">
+                <Source>Reactome</Source>
+                <Reference>P49959</Reference>
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+              <ExternalReference id="33530">
+                <Source>SwissProt</Source>
+                <Reference>P49959</Reference>
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+              <Locus id="9315">
+                <GeneLocus>11q21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2156">
+      <OrphaCode>2289</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2289</ExpertLink>
+      <Name lang="en">Neuronal intranuclear inclusion disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31178126[PMID]</SourceOfValidation>
+          <Gene id="28618">
+            <Name lang="en">notch 2 N-terminal like C</Name>
+            <Symbol>NOTCH2NLC</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="178831">
+                <Source>OMIM</Source>
+                <Reference>618025</Reference>
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+              <ExternalReference id="178828">
+                <Source>HGNC</Source>
+                <Reference>53924</Reference>
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+              <ExternalReference id="178829">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000286219</Reference>
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+              <ExternalReference id="178830">
+                <Source>SwissProt</Source>
+                <Reference>P0DPK4</Reference>
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+            <LocusList count="1">
+              <Locus id="53531">
+                <GeneLocus>1q21.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2157">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2290</ExpertLink>
+      <Name lang="en">Microvillus inclusion disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20186687[PMID]</SourceOfValidation>
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+            <Name lang="en">myosin VB</Name>
+            <Symbol>MYO5B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1119</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58174">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167306</Reference>
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+              <ExternalReference id="40148">
+                <Source>Genatlas</Source>
+                <Reference>MYO5B</Reference>
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+              <ExternalReference id="40149">
+                <Source>HGNC</Source>
+                <Reference>7603</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58175">
+                <Source>Reactome</Source>
+                <Reference>Q9ULV0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULV0</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24726755[PMID]</SourceOfValidation>
+          <Gene id="22962">
+            <Name lang="en">syntaxin 3</Name>
+            <Symbol>STX3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100356">
+                <Source>Reactome</Source>
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+              <ExternalReference id="91674">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166900</Reference>
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+              <ExternalReference id="91523">
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+                <Reference>11438</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600876</Reference>
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+              <ExternalReference id="91524">
+                <Source>SwissProt</Source>
+                <Reference>Q13277</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <OrphaCode>254857</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254857</ExpertLink>
+      <Name lang="en">Lethal infantile mitochondrial myopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrially encoded tRNA-Thr (ACN)</Name>
+            <Symbol>MT-TT</Symbol>
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+              <Name lang="en">Non-coding RNA</Name>
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+              <ExternalReference id="83714">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210195</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-TT</Reference>
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+              <ExternalReference id="77845">
+                <Source>HGNC</Source>
+                <Reference>7499</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</Name>
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+            <Name lang="en">tRNA mitochondrial 2-thiouridylase</Name>
+            <Symbol>TRMU</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ10140</Synonym>
+              <Synonym lang="en">MTO2</Synonym>
+              <Synonym lang="en">MTU1</Synonym>
+              <Synonym lang="en">mitochondrial tRNA-specific 2-thiouridylase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100416</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TRMU</Reference>
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+                <Reference>25481</Reference>
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+                <Reference>610230</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75648</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75648</Reference>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">mitochondrially encoded tRNA-Glu (GAA/G)</Name>
+            <Symbol>MT-TE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnE</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210194</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>7479</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Keipert syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30982611[PMID]</SourceOfValidation>
+          <Gene id="17714">
+            <Name lang="en">glypican 4</Name>
+            <Symbol>GPC4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K-glypican</Synonym>
+              <Synonym lang="en">glypican proteoglycan 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57811">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076716</Reference>
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+              <ExternalReference id="39093">
+                <Source>Genatlas</Source>
+                <Reference>GPC4</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>4452</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300168</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75487</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75487</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>1475</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1475</ExpertLink>
+      <Name lang="en">Renal coloboma syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22213154[PMID]_20301624[PMID]</SourceOfValidation>
+          <Gene id="16610">
+            <Name lang="en">paired box 2</Name>
+            <Symbol>PAX2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58260">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075891</Reference>
+              </ExternalReference>
+              <ExternalReference id="32113">
+                <Source>Genatlas</Source>
+                <Reference>PAX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32111">
+                <Source>HGNC</Source>
+                <Reference>8616</Reference>
+              </ExternalReference>
+              <ExternalReference id="32110">
+                <Source>OMIM</Source>
+                <Reference>167409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33675">
+                <Source>SwissProt</Source>
+                <Reference>Q02962</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9583">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2437">
+      <OrphaCode>2670</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2670</ExpertLink>
+      <Name lang="en">Pierson syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24944146[PMID]</SourceOfValidation>
+          <Gene id="16334">
+            <Name lang="en">laminin subunit beta 2</Name>
+            <Symbol>LAMB2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NPHS5</Synonym>
+              <Synonym lang="en">laminin S</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58258">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172037</Reference>
+              </ExternalReference>
+              <ExternalReference id="30820">
+                <Source>Genatlas</Source>
+                <Reference>LAMB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30822">
+                <Source>HGNC</Source>
+                <Reference>6487</Reference>
+              </ExternalReference>
+              <ExternalReference id="30821">
+                <Source>OMIM</Source>
+                <Reference>150325</Reference>
+              </ExternalReference>
+              <ExternalReference id="58259">
+                <Source>Reactome</Source>
+                <Reference>P55268</Reference>
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+              <ExternalReference id="33399">
+                <Source>SwissProt</Source>
+                <Reference>P55268</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22971">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19803">
+      <OrphaCode>254930</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254930</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 7</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20598281[PMID]</SourceOfValidation>
+          <Gene id="19467">
+            <Name lang="en">mitochondrial translation release factor in rescue</Name>
+            <Symbol>MTRFR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COXPD7</Synonym>
+              <Synonym lang="en">FLJ38663</Synonym>
+              <Synonym lang="en">SPG55</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59219">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130921</Reference>
+              </ExternalReference>
+              <ExternalReference id="48389">
+                <Source>Genatlas</Source>
+                <Reference>C12orf65</Reference>
+              </ExternalReference>
+              <ExternalReference id="48390">
+                <Source>HGNC</Source>
+                <Reference>26784</Reference>
+              </ExternalReference>
+              <ExternalReference id="48392">
+                <Source>OMIM</Source>
+                <Reference>613541</Reference>
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+              <ExternalReference id="48391">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3J6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14077">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19802">
+      <OrphaCode>254925</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254925</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 4</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17160893[PMID]</SourceOfValidation>
+          <Gene id="20154">
+            <Name lang="en">Tu translation elongation factor, mitochondrial</Name>
+            <Symbol>TUFM</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EF-TuMT</Synonym>
+              <Synonym lang="en">EFTU</Synonym>
+              <Synonym lang="en">EFTu</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60491">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178952</Reference>
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+              <ExternalReference id="51670">
+                <Source>Genatlas</Source>
+                <Reference>TUFM</Reference>
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+              <ExternalReference id="51668">
+                <Source>HGNC</Source>
+                <Reference>12420</Reference>
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+              <ExternalReference id="51669">
+                <Source>OMIM</Source>
+                <Reference>602389</Reference>
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+              <ExternalReference id="97305">
+                <Source>Reactome</Source>
+                <Reference>P49411</Reference>
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+              <ExternalReference id="51671">
+                <Source>SwissProt</Source>
+                <Reference>P49411</Reference>
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+              <Locus id="16857">
+                <GeneLocus>16p11.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2459">
+      <OrphaCode>2697</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2697</ExpertLink>
+      <Name lang="en">Arthrogryposis-renal dysfunction-cholestasis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25239142[PMID]</SourceOfValidation>
+          <Gene id="15712">
+            <Name lang="en">VPS33B late endosome and lysosome associated</Name>
+            <Symbol>VPS33B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ14848</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58265">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184056</Reference>
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+              <ExternalReference id="27838">
+                <Source>Genatlas</Source>
+                <Reference>VPS33B</Reference>
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+              <ExternalReference id="27836">
+                <Source>HGNC</Source>
+                <Reference>12712</Reference>
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+              <ExternalReference id="27835">
+                <Source>OMIM</Source>
+                <Reference>608552</Reference>
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+              <ExternalReference id="32684">
+                <Source>SwissProt</Source>
+                <Reference>Q9H267</Reference>
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+                <GeneLocus>15q26.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25239142[PMID]</SourceOfValidation>
+          <Gene id="19045">
+            <Name lang="en">VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog</Name>
+            <Symbol>VIPAS39</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">SPE-39</Synonym>
+              <Synonym lang="en">SPE39</Synonym>
+              <Synonym lang="en">VIPAR</Synonym>
+              <Synonym lang="en">VPS16B</Synonym>
+              <Synonym lang="en">VPS33B interacting protein, apical-basolateral polarity regulator</Synonym>
+              <Synonym lang="en">hSPE-39</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="45485">
+                <Source>OMIM</Source>
+                <Reference>613401</Reference>
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+              <ExternalReference id="45312">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9C1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151445</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <GeneLocus>14q24.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 2</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrial ribosomal protein S16</Name>
+            <Symbol>MRPS16</Symbol>
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+              <Synonym lang="en">CGI-132</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182180</Reference>
+              </ExternalReference>
+              <ExternalReference id="51663">
+                <Source>Genatlas</Source>
+                <Reference>MRPS16</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14048</Reference>
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+              <ExternalReference id="51662">
+                <Source>OMIM</Source>
+                <Reference>609204</Reference>
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+              <ExternalReference id="97304">
+                <Source>Reactome</Source>
+                <Reference>Q9Y3D3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y3D3</Reference>
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+                <GeneLocus>10q22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>254913</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254913</ExpertLink>
+      <Name lang="en">Isolated ATP synthase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21686774_28412374[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP6</Synonym>
+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56908">
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+                <Reference>ENSG00000198899</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-ATP6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7414</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516060</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00846</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00846</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29917077[PMID]</SourceOfValidation>
+          <Gene id="27610">
+            <Name lang="en">ATP synthase membrane subunit k</Name>
+            <Symbol>ATP5MK</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AGP</Synonym>
+              <Synonym lang="en">DAPIT</Synonym>
+              <Synonym lang="en">Diabetes Associated Protein in Insulin-sensitive Tissues</Synonym>
+              <Synonym lang="en">MGC14697</Synonym>
+              <Synonym lang="en">bA792D24.4</Synonym>
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+                <Reference>30889</Reference>
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+                <Reference>ENSG00000173915</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96IX5</Reference>
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+                <GeneLocus>10q24.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>21686774[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 8</Name>
+            <Symbol>MT-ATP8</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">ATP8</Synonym>
+              <Synonym lang="en">URFA6L</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit A6L</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>809</Reference>
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+                <Reference>MT-ATP8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7415</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516070</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P03928</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P03928</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000228253</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14757859[PMID]</SourceOfValidation>
+          <Gene id="15332">
+            <Name lang="en">ATP synthase mitochondrial F1 complex assembly factor 2</Name>
+            <Symbol>ATPAF2</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">Atp12p</Synonym>
+              <Synonym lang="en">LP3663</Synonym>
+              <Synonym lang="en">MGC29736</Synonym>
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+                <Source>Ensembl</Source>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19795">
+      <OrphaCode>254886</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254886</ExpertLink>
+      <Name lang="en">Autosomal recessive progressive external ophthalmoplegia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11431686[PMID]_20301791[PMID]</SourceOfValidation>
+          <Gene id="15118">
+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
+              </ExternalReference>
+              <ExternalReference id="24994">
+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+              <ExternalReference id="24995">
+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
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+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
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+              <ExternalReference id="143949">
+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21937588[PMID]</SourceOfValidation>
+          <Gene id="15623">
+            <Name lang="en">thymidine kinase 2</Name>
+            <Symbol>TK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SCA31</Synonym>
+              <Synonym lang="en">mitochondrial thymidine kinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60481">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166548</Reference>
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+              <ExternalReference id="36453">
+                <Source>Genatlas</Source>
+                <Reference>TK2</Reference>
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+              <ExternalReference id="27417">
+                <Source>HGNC</Source>
+                <Reference>11831</Reference>
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+              <ExternalReference id="27416">
+                <Source>OMIM</Source>
+                <Reference>188250</Reference>
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+              <ExternalReference id="60482">
+                <Source>Reactome</Source>
+                <Reference>O00142</Reference>
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+              <ExternalReference id="32595">
+                <Source>SwissProt</Source>
+                <Reference>O00142</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16q21</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19794">
+      <OrphaCode>254881</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254881</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia with epilepsy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15824347[PMID]</SourceOfValidation>
+          <Gene id="15118">
+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
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+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
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+              <ExternalReference id="24994">
+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+              <ExternalReference id="24995">
+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
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+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
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+              <ExternalReference id="143949">
+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
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+                <GeneLocus>15q26.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19793">
+      <OrphaCode>254875</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254875</ExpertLink>
+      <Name lang="en">Mitochondrial DNA depletion syndrome, myopathic form</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23230576[PMID]</SourceOfValidation>
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+            <Name lang="en">thymidine kinase 2</Name>
+            <Symbol>TK2</Symbol>
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+              <Synonym lang="en">SCA31</Synonym>
+              <Synonym lang="en">mitochondrial thymidine kinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166548</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11831</Reference>
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+                <Source>OMIM</Source>
+                <Reference>188250</Reference>
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+              <ExternalReference id="60482">
+                <Source>Reactome</Source>
+                <Reference>O00142</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00142</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19799">
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+      <Name lang="en">Isolated cytochrome C oxidase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10</Name>
+            <Symbol>COX10</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">heme O synthase</Synonym>
+              <Synonym lang="en">protoheme IX farnesyltransferase, mitochondrial</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23125284[PMID]</SourceOfValidation>
+          <Gene id="21861">
+            <Name lang="en">cytochrome c oxidase assembly factor COX20</Name>
+            <Symbol>COX20</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ43269</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203667</Reference>
+              </ExternalReference>
+              <ExternalReference id="100013">
+                <Source>Genatlas</Source>
+                <Reference>COX20</Reference>
+              </ExternalReference>
+              <ExternalReference id="77060">
+                <Source>HGNC</Source>
+                <Reference>26970</Reference>
+              </ExternalReference>
+              <ExternalReference id="77061">
+                <Source>OMIM</Source>
+                <Reference>614698</Reference>
+              </ExternalReference>
+              <ExternalReference id="97338">
+                <Source>Reactome</Source>
+                <Reference>Q5RI15</Reference>
+              </ExternalReference>
+              <ExternalReference id="77063">
+                <Source>SwissProt</Source>
+                <Reference>Q5RI15</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q44</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25604084[PMID]</SourceOfValidation>
+          <Gene id="23285">
+            <Name lang="en">cytochrome c oxidase assembly factor 3</Name>
+            <Symbol>COA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COX25</Synonym>
+              <Synonym lang="en">HSPC009</Synonym>
+              <Synonym lang="en">MITRAC12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="96027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183978</Reference>
+              </ExternalReference>
+              <ExternalReference id="96025">
+                <Source>Genatlas</Source>
+                <Reference>COA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="96023">
+                <Source>HGNC</Source>
+                <Reference>24990</Reference>
+              </ExternalReference>
+              <ExternalReference id="96024">
+                <Source>OMIM</Source>
+                <Reference>614775</Reference>
+              </ExternalReference>
+              <ExternalReference id="96026">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2R0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26685157[PMID]</SourceOfValidation>
+          <Gene id="23674">
+            <Name lang="en">cytochrome c oxidase subunit 8A</Name>
+            <Symbol>COX8A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">COX</Synonym>
+              <Synonym lang="en">COX8-2</Synonym>
+              <Synonym lang="en">COX8L</Synonym>
+              <Synonym lang="en">VIII</Synonym>
+              <Synonym lang="en">VIII-L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100276">
+                <Source>HGNC</Source>
+                <Reference>2294</Reference>
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+              <ExternalReference id="100277">
+                <Source>OMIM</Source>
+                <Reference>123870</Reference>
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+              <ExternalReference id="100278">
+                <Source>Genatlas</Source>
+                <Reference>COX8A</Reference>
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+              <ExternalReference id="100279">
+                <Source>SwissProt</Source>
+                <Reference>P10176</Reference>
+              </ExternalReference>
+              <ExternalReference id="100280">
+                <Source>Reactome</Source>
+                <Reference>P10176</Reference>
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+              <ExternalReference id="100281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176340</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31155743[PMID]</SourceOfValidation>
+          <Gene id="27612">
+            <Name lang="en">cytochrome c oxidase subunit 6A2</Name>
+            <Symbol>COX6A2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="160767">
+                <Source>HGNC</Source>
+                <Reference>2279</Reference>
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+              <ExternalReference id="160768">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156885</Reference>
+              </ExternalReference>
+              <ExternalReference id="160769">
+                <Source>SwissProt</Source>
+                <Reference>Q02221</Reference>
+              </ExternalReference>
+              <ExternalReference id="160770">
+                <Source>OMIM</Source>
+                <Reference>602009</Reference>
+              </ExternalReference>
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+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28386624[PMID]</SourceOfValidation>
+          <Gene id="25463">
+            <Name lang="en">PET117 cytochrome c oxidase chaperone</Name>
+            <Symbol>PET117</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CSRP2BP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="144463">
+                <Source>HGNC</Source>
+                <Reference>40045</Reference>
+              </ExternalReference>
+              <ExternalReference id="144464">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000232838</Reference>
+              </ExternalReference>
+              <ExternalReference id="144465">
+                <Source>SwissProt</Source>
+                <Reference>Q6UWS5</Reference>
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+              <ExternalReference id="144466">
+                <Source>OMIM</Source>
+                <Reference>614771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>20p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28247525[PMID]</SourceOfValidation>
+          <Gene id="25447">
+            <Name lang="en">cytochrome c oxidase subunit 5A</Name>
+            <Symbol>COX5A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="144374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178741</Reference>
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+              <ExternalReference id="144375">
+                <Source>SwissProt</Source>
+                <Reference>P20674</Reference>
+              </ExternalReference>
+              <ExternalReference id="144376">
+                <Source>OMIM</Source>
+                <Reference>603773</Reference>
+              </ExternalReference>
+              <ExternalReference id="144377">
+                <Source>Genatlas</Source>
+                <Reference>COX5A</Reference>
+              </ExternalReference>
+              <ExternalReference id="144378">
+                <Source>Reactome</Source>
+                <Reference>P20674</Reference>
+              </ExternalReference>
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+                <GeneLocus>15q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19798">
+      <OrphaCode>254902</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254902</ExpertLink>
+      <Name lang="en">Renal tubulopathy-encephalopathy-liver failure syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11528392[PMID]</SourceOfValidation>
+          <Gene id="15366">
+            <Name lang="en">BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone</Name>
+            <Symbol>BCS1L</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BCS</Synonym>
+              <Synonym lang="en">BJS</Synonym>
+              <Synonym lang="en">Bjornstad syndrome</Synonym>
+              <Synonym lang="en">GRACILE syndrome</Synonym>
+              <Synonym lang="en">Hs.6719</Synonym>
+              <Synonym lang="en">h-BCS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58574">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074582</Reference>
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+              <ExternalReference id="26176">
+                <Source>Genatlas</Source>
+                <Reference>BCS1L</Reference>
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+              <ExternalReference id="26174">
+                <Source>HGNC</Source>
+                <Reference>1020</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603647</Reference>
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+              <ExternalReference id="58575">
+                <Source>Reactome</Source>
+                <Reference>Q9Y276</Reference>
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+              <ExternalReference id="33923">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y276</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254898</ExpertLink>
+      <Name lang="en">Deafness-encephaloneuropathy-obesity-valvulopathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">decaprenyl diphosphate synthase subunit 1</Name>
+            <Symbol>PDSS1</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">COQ1A</Synonym>
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+              <Synonym lang="en">coenzyme Q1 homolog (yeast)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148459</Reference>
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+              <ExternalReference id="50442">
+                <Source>Genatlas</Source>
+                <Reference>PDSS1</Reference>
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+              <ExternalReference id="50443">
+                <Source>HGNC</Source>
+                <Reference>17759</Reference>
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+              <ExternalReference id="50444">
+                <Source>OMIM</Source>
+                <Reference>607429</Reference>
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+              <ExternalReference id="83191">
+                <Source>Reactome</Source>
+                <Reference>Q5T2R2</Reference>
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+              <ExternalReference id="50445">
+                <Source>SwissProt</Source>
+                <Reference>Q5T2R2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254892</ExpertLink>
+      <Name lang="en">Autosomal dominant progressive external ophthalmoplegia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11431686[PMID]_20301791[PMID]</SourceOfValidation>
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+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
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+              <Synonym lang="en">POLGA</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q9UHN1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000256525</Reference>
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+                <Reference>9180</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21519523[PMID]_10926541[PMID]</SourceOfValidation>
+          <Gene id="15314">
+            <Name lang="en">solute carrier family 25 member 4</Name>
+            <Symbol>SLC25A4</Symbol>
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+              <Synonym lang="en">T1</Synonym>
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+                <Reference>ENSG00000151729</Reference>
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+                <Reference>10990</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P12235</Reference>
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+          <SourceOfValidation>21519523[PMID]_11431692[PMID]</SourceOfValidation>
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+            <Name lang="en">twinkle mtDNA helicase</Name>
+            <Symbol>TWNK</Symbol>
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+              <Synonym lang="en">FLJ21832</Synonym>
+              <Synonym lang="en">PEO</Synonym>
+              <Synonym lang="en">PEO1</Synonym>
+              <Synonym lang="en">T7 helicase-related protein with intramitochondrial nucleoid localization</Synonym>
+              <Synonym lang="en">TWINKLE</Synonym>
+              <Synonym lang="en">TWINL</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000107815</Reference>
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+                <Reference>C10orf2</Reference>
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+              <ExternalReference id="37624">
+                <Source>HGNC</Source>
+                <Reference>1160</Reference>
+              </ExternalReference>
+              <ExternalReference id="37623">
+                <Source>OMIM</Source>
+                <Reference>606075</Reference>
+              </ExternalReference>
+              <ExternalReference id="87982">
+                <Source>Reactome</Source>
+                <Reference>Q96RR1</Reference>
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+              <ExternalReference id="37625">
+                <Source>SwissProt</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24221">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21646632[PMID]_19664747[PMID]</SourceOfValidation>
+          <Gene id="17734">
+            <Name lang="en">ribonucleotide reductase regulatory TP53 inducible subunit M2B</Name>
+            <Symbol>RRM2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p53R2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048392</Reference>
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+              <ExternalReference id="39297">
+                <Source>Genatlas</Source>
+                <Reference>RRM2B</Reference>
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+              <ExternalReference id="39298">
+                <Source>HGNC</Source>
+                <Reference>17296</Reference>
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+              <ExternalReference id="87983">
+                <Source>IUPHAR</Source>
+                <Reference>2754</Reference>
+              </ExternalReference>
+              <ExternalReference id="39299">
+                <Source>OMIM</Source>
+                <Reference>604712</Reference>
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+              <ExternalReference id="82668">
+                <Source>Reactome</Source>
+                <Reference>Q7LG56</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7LG56</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>8q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2473">
+      <OrphaCode>2712</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2712</ExpertLink>
+      <Name lang="en">Oculofaciocardiodental syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22301464[PMID]_15004558[PMID]_15770227[PMID]</SourceOfValidation>
+          <Gene id="15364">
+            <Name lang="en">BCL6 corepressor</Name>
+            <Symbol>BCOR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL-6 coreceptor</Synonym>
+              <Synonym lang="en">BCL6 interacting corepressor</Synonym>
+              <Synonym lang="en">FLJ20285</Synonym>
+              <Synonym lang="en">KIAA1575</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="143981">
+                <Source>Reactome</Source>
+                <Reference>Q6W2J9</Reference>
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+              <ExternalReference id="26167">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20893</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300485</Reference>
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+              <ExternalReference id="33921">
+                <Source>SwissProt</Source>
+                <Reference>Q6W2J9</Reference>
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+              <ExternalReference id="57113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183337</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2478">
+      <OrphaCode>2717</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2717</ExpertLink>
+      <Name lang="en">Oculotrichoanal syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301721[PMID]</SourceOfValidation>
+          <Gene id="18924">
+            <Name lang="en">FRAS1 related extracellular matrix 1</Name>
+            <Symbol>FREM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C9orf143</Synonym>
+              <Synonym lang="en">C9orf145</Synonym>
+              <Synonym lang="en">DKFZp686M16108</Synonym>
+              <Synonym lang="en">FLJ25461</Synonym>
+              <Synonym lang="en">TILRR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58268">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164946</Reference>
+              </ExternalReference>
+              <ExternalReference id="44062">
+                <Source>Genatlas</Source>
+                <Reference>FREM1</Reference>
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+              <ExternalReference id="44063">
+                <Source>HGNC</Source>
+                <Reference>23399</Reference>
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+              <ExternalReference id="44064">
+                <Source>OMIM</Source>
+                <Reference>608944</Reference>
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+              <ExternalReference id="44065">
+                <Source>SwissProt</Source>
+                <Reference>Q5H8C1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>2704</OrphaCode>
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+      <Name lang="en">Ochoa syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23967498[PMID]</SourceOfValidation>
+          <Gene id="19241">
+            <Name lang="en">heparanase 2 (inactive)</Name>
+            <Symbol>HPSE2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HPA2</Synonym>
+              <Synonym lang="en">HPR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58267">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172987</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HPSE2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18374</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8WWQ2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WWQ2</Reference>
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+                <GeneLocus>10q24.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23313374[PMID]_23967498[PMID]</SourceOfValidation>
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+            <Name lang="en">leucine rich repeats and immunoglobulin like domains 2</Name>
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+              <Synonym lang="en">KIAA0806</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83699">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198799</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O94898</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Mitochondrial DNA-associated Leigh syndrome</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198899</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P00846</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11938446[PMID]_14520659[PMID]_20301352[PMID]</SourceOfValidation>
+          <Gene id="16483">
+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5</Name>
+            <Symbol>MT-ND5</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NAD5</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 5</Synonym>
+              <Synonym lang="en">ND5</Synonym>
+              <Synonym lang="en">complex I ND5 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56745">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198786</Reference>
+              </ExternalReference>
+              <ExternalReference id="37261">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31509">
+                <Source>HGNC</Source>
+                <Reference>7461</Reference>
+              </ExternalReference>
+              <ExternalReference id="31508">
+                <Source>OMIM</Source>
+                <Reference>516005</Reference>
+              </ExternalReference>
+              <ExternalReference id="56746">
+                <Source>Reactome</Source>
+                <Reference>P03915</Reference>
+              </ExternalReference>
+              <ExternalReference id="33548">
+                <Source>SwissProt</Source>
+                <Reference>P03915</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9351">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14595656[PMID]_20301352[PMID]_23813926[PMID]</SourceOfValidation>
+          <Gene id="16484">
+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6</Name>
+            <Symbol>MT-ND6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NAD6</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 6</Synonym>
+              <Synonym lang="en">ND6</Synonym>
+              <Synonym lang="en">complex I ND6 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198695</Reference>
+              </ExternalReference>
+              <ExternalReference id="37262">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31513">
+                <Source>HGNC</Source>
+                <Reference>7462</Reference>
+              </ExternalReference>
+              <ExternalReference id="31512">
+                <Source>OMIM</Source>
+                <Reference>516006</Reference>
+              </ExternalReference>
+              <ExternalReference id="56748">
+                <Source>Reactome</Source>
+                <Reference>P03923</Reference>
+              </ExternalReference>
+              <ExternalReference id="33549">
+                <Source>SwissProt</Source>
+                <Reference>P03923</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9353">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9323566[PMID]_10356136[PMID]_20301352[PMID]</SourceOfValidation>
+          <Gene id="16841">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
+            <Symbol>MT-TL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
+              </ExternalReference>
+              <ExternalReference id="35211">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35210">
+                <Source>HGNC</Source>
+                <Reference>7490</Reference>
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+              <ExternalReference id="35884">
+                <Source>OMIM</Source>
+                <Reference>590050</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9787">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301352[PMID]_24374964[PMID]</SourceOfValidation>
+          <Gene id="16842">
+            <Name lang="en">mitochondrially encoded tRNA-Lys (AAA/G)</Name>
+            <Symbol>MT-TK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnK</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210156</Reference>
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+              <ExternalReference id="35213">
+                <Source>Genatlas</Source>
+                <Reference>MT-TK</Reference>
+              </ExternalReference>
+              <ExternalReference id="35214">
+                <Source>HGNC</Source>
+                <Reference>7489</Reference>
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+              <ExternalReference id="35885">
+                <Source>OMIM</Source>
+                <Reference>590060</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9266739[PMID]_19349200[PMID]_20301352[PMID]</SourceOfValidation>
+          <Gene id="17473">
+            <Name lang="en">mitochondrially encoded tRNA-Trp (UGA/G)</Name>
+            <Symbol>MT-TW</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnW</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="38241">
+                <Source>HGNC</Source>
+                <Reference>7501</Reference>
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+              <ExternalReference id="38242">
+                <Source>OMIM</Source>
+                <Reference>590095</Reference>
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+              <ExternalReference id="83100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210117</Reference>
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+              <ExternalReference id="38240">
+                <Source>Genatlas</Source>
+                <Reference>MT-TW</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11799391[PMID]_20301352[PMID]_24691472[PMID]</SourceOfValidation>
+          <Gene id="20156">
+            <Name lang="en">mitochondrially encoded tRNA-Val (GUN)</Name>
+            <Symbol>MT-TV</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnV</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
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+              <ExternalReference id="83202">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210077</Reference>
+              </ExternalReference>
+              <ExternalReference id="51707">
+                <Source>Genatlas</Source>
+                <Reference>MT-TV</Reference>
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+              <ExternalReference id="51705">
+                <Source>HGNC</Source>
+                <Reference>7500</Reference>
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+              <ExternalReference id="51706">
+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19812">
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+      <Name lang="en">Navajo neurohepatopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrial inner membrane protein MPV17</Name>
+            <Symbol>MPV17</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SYM1</Synonym>
+              <Synonym lang="en">glomerulosclerosis</Synonym>
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+                <Reference>ENSG00000115204</Reference>
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+                <Reference>MPV17</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7224</Reference>
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+              <ExternalReference id="31413">
+                <Source>OMIM</Source>
+                <Reference>137960</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P39210</Reference>
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+      <Name lang="en">Oculocerebrofacial syndrome, Kaufman type</Name>
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+            <Name lang="en">ubiquitin protein ligase E3B</Name>
+            <Symbol>UBE3B</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>13478</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z3V4</Reference>
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+                <Reference>Q7Z3V4</Reference>
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+      <OrphaCode>255235</OrphaCode>
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+      <Name lang="en">Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy</Name>
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+            <Name lang="en">ribonucleotide reductase regulatory TP53 inducible subunit M2B</Name>
+            <Symbol>RRM2B</Symbol>
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+                <Source>Ensembl</Source>
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+                <Reference>RRM2B</Reference>
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+                <Reference>2754</Reference>
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+                <Reference>604712</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7LG56</Reference>
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+      <Name lang="en">Oculodentodigital dysplasia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">gap junction protein alpha 1</Name>
+            <Symbol>GJA1</Symbol>
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+              <Synonym lang="en">ODD</Synonym>
+              <Synonym lang="en">ODOD</Synonym>
+              <Synonym lang="en">SDTY3</Synonym>
+              <Synonym lang="en">connexin 43</Synonym>
+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152661</Reference>
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+                <Reference>GJA1</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Leigh syndrome with leukodystrophy</Name>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A13</Name>
+            <Symbol>NDUFA13</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">B16.6</Synonym>
+              <Synonym lang="en">CDA016</Synonym>
+              <Synonym lang="en">CGI-39</Synonym>
+              <Synonym lang="en">GRIM-19</Synonym>
+              <Synonym lang="en">GRIM19</Synonym>
+              <Synonym lang="en">complex I B16.6 subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186010</Reference>
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+              <ExternalReference id="84713">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA13</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17194</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609435</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9P0J0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9P0J0</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16361598[PMID]_24781757[PMID]</SourceOfValidation>
+          <Gene id="15261">
+            <Name lang="en">succinate dehydrogenase complex flavoprotein subunit A</Name>
+            <Symbol>SDHA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FP</Synonym>
+              <Synonym lang="en">SDHF</Synonym>
+              <Synonym lang="en">flavoprotein subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] flavoprotein subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073578</Reference>
+              </ExternalReference>
+              <ExternalReference id="25671">
+                <Source>Genatlas</Source>
+                <Reference>SDHA</Reference>
+              </ExternalReference>
+              <ExternalReference id="25669">
+                <Source>HGNC</Source>
+                <Reference>10680</Reference>
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+              <ExternalReference id="25668">
+                <Source>OMIM</Source>
+                <Reference>600857</Reference>
+              </ExternalReference>
+              <ExternalReference id="57475">
+                <Source>Reactome</Source>
+                <Reference>P31040</Reference>
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+              <ExternalReference id="33819">
+                <Source>SwissProt</Source>
+                <Reference>P31040</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23423671[PMID]</SourceOfValidation>
+          <Gene id="15305">
+            <Name lang="en">solute carrier family 19 member 3</Name>
+            <Symbol>SLC19A3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">THTR2</Synonym>
+              <Synonym lang="en">thiamine transporter 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="33863">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZV2</Reference>
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+              <ExternalReference id="59171">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135917</Reference>
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+              <ExternalReference id="25883">
+                <Source>Genatlas</Source>
+                <Reference>SLC19A3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16266</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606152</Reference>
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+              <ExternalReference id="59172">
+                <Source>Reactome</Source>
+                <Reference>Q9BZV2</Reference>
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+              <ExternalReference id="193522">
+                <Source>IUPHAR</Source>
+                <Reference>1016</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23829769[PMID]</SourceOfValidation>
+          <Gene id="15572">
+            <Name lang="en">SURF1 cytochrome c oxidase assembly factor</Name>
+            <Symbol>SURF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SHY1</Synonym>
+              <Synonym lang="en">surfeit locus protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148290</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11474</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q15526</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15235026[PMID]_15863660[PMID]</SourceOfValidation>
+          <Gene id="15790">
+            <Name lang="en">cytochrome c oxidase assembly homolog COX15</Name>
+            <Symbol>COX15</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CEMCOX2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000014919</Reference>
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+              <ExternalReference id="28201">
+                <Source>Genatlas</Source>
+                <Reference>COX15</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2263</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603646</Reference>
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+              <ExternalReference id="82870">
+                <Source>Reactome</Source>
+                <Reference>Q7KZN9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7KZN9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20818383[PMID]_22644603[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 2</Name>
+            <Symbol>NDUFAF2</Symbol>
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+              <Synonym lang="en">B17.2L</Synonym>
+              <Synonym lang="en">MMTN</Synonym>
+              <Synonym lang="en">Myc-induced mitochondrial protein</Synonym>
+              <Synonym lang="en">mimitin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8N183</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N183</Reference>
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+                <Source>Ensembl</Source>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26008862[PMID]</SourceOfValidation>
+          <Gene id="16534">
+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit V2</Name>
+            <Symbol>NDUFV2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CI-24k</Synonym>
+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 24kDa subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178127</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7717</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600532</Reference>
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+              <ExternalReference id="57220">
+                <Source>Reactome</Source>
+                <Reference>P19404</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P19404</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8498846[PMID]_15384102[PMID]_20002461[PMID]</SourceOfValidation>
+          <Gene id="16631">
+            <Name lang="en">pyruvate dehydrogenase E1 subunit alpha 1</Name>
+            <Symbol>PDHA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000131828</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19542079[PMID]_22644603[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 5</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q5TEU4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5TEU4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101247</Reference>
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+                <Source>Genatlas</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18614015[PMID]_22644603[PMID]</SourceOfValidation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q330K2</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>23746447[PMID]</SourceOfValidation>
+          <Gene id="22681">
+            <Name lang="en">NDUFA4 mitochondrial complex associated</Name>
+            <Symbol>NDUFA4</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">CI-9k</Synonym>
+              <Synonym lang="en">COXFA4</Synonym>
+              <Synonym lang="en">MISTR1</Synonym>
+              <Synonym lang="en">MLRQ</Synonym>
+              <Synonym lang="en">MRCAF1</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase MLRQ subunit</Synonym>
+              <Synonym lang="en">complex I 9kDa subunit</Synonym>
+              <Synonym lang="en">cytochrome c oxidase subunit FA4</Synonym>
+              <Synonym lang="en">mitochondrial respiratory chain associated factor 1</Synonym>
+              <Synonym lang="en">mitochondrial stress response 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87903">
+                <Source>SwissProt</Source>
+                <Reference>O00483</Reference>
+              </ExternalReference>
+              <ExternalReference id="89574">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189043</Reference>
+              </ExternalReference>
+              <ExternalReference id="87902">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="87900">
+                <Source>HGNC</Source>
+                <Reference>7687</Reference>
+              </ExternalReference>
+              <ExternalReference id="87901">
+                <Source>OMIM</Source>
+                <Reference>603833</Reference>
+              </ExternalReference>
+              <ExternalReference id="89573">
+                <Source>Reactome</Source>
+                <Reference>O00483</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13097">
+                <GeneLocus>7p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25393721[PMID]</SourceOfValidation>
+          <Gene id="23219">
+            <Name lang="en">enoyl-CoA hydratase, short chain 1</Name>
+            <Symbol>ECHS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SCEH</Synonym>
+              <Synonym lang="en">short chain enoyl-CoA hydratase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95586">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127884</Reference>
+              </ExternalReference>
+              <ExternalReference id="95583">
+                <Source>Genatlas</Source>
+                <Reference>ECHS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95581">
+                <Source>HGNC</Source>
+                <Reference>3151</Reference>
+              </ExternalReference>
+              <ExternalReference id="95582">
+                <Source>OMIM</Source>
+                <Reference>602292</Reference>
+              </ExternalReference>
+              <ExternalReference id="95585">
+                <Source>Reactome</Source>
+                <Reference>P30084</Reference>
+              </ExternalReference>
+              <ExternalReference id="95584">
+                <Source>SwissProt</Source>
+                <Reference>P30084</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20969">
+                <GeneLocus>10q26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21617257[PMID]_22644603[PMID]</SourceOfValidation>
+          <Gene id="23357">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A12</Name>
+            <Symbol>NDUFA12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">B17.2</Synonym>
+              <Synonym lang="en">DAP13</Synonym>
+              <Synonym lang="en">complex I B17.2 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="96299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184752</Reference>
+              </ExternalReference>
+              <ExternalReference id="96296">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA12</Reference>
+              </ExternalReference>
+              <ExternalReference id="96294">
+                <Source>HGNC</Source>
+                <Reference>23987</Reference>
+              </ExternalReference>
+              <ExternalReference id="96295">
+                <Source>OMIM</Source>
+                <Reference>614530</Reference>
+              </ExternalReference>
+              <ExternalReference id="96298">
+                <Source>Reactome</Source>
+                <Reference>Q9UI09</Reference>
+              </ExternalReference>
+              <ExternalReference id="96297">
+                <Source>SwissProt</Source>
+                <Reference>Q9UI09</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16203">
+                <GeneLocus>12q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19815">
+      <OrphaCode>255249</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=255249</ExpertLink>
+      <Name lang="en">Leigh syndrome with nephrotic syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15788">
+            <Name lang="en">coenzyme Q2, polyprenyltransferase</Name>
+            <Symbol>COQ2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">4-hydroxybenzoate polyprenyltransferase</Synonym>
+              <Synonym lang="en">CL640</Synonym>
+              <Synonym lang="en">FLJ26072</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173085</Reference>
+              </ExternalReference>
+              <ExternalReference id="28191">
+                <Source>Genatlas</Source>
+                <Reference>COQ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28193">
+                <Source>HGNC</Source>
+                <Reference>25223</Reference>
+              </ExternalReference>
+              <ExternalReference id="28192">
+                <Source>OMIM</Source>
+                <Reference>609825</Reference>
+              </ExternalReference>
+              <ExternalReference id="60079">
+                <Source>Reactome</Source>
+                <Reference>Q96H96</Reference>
+              </ExternalReference>
+              <ExternalReference id="32760">
+                <Source>SwissProt</Source>
+                <Reference>Q96H96</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8053">
+                <GeneLocus>4q21.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17186472[PMID]_20301352[PMID]</SourceOfValidation>
+          <Gene id="18491">
+            <Name lang="en">decaprenyl diphosphate synthase subunit 2</Name>
+            <Symbol>PDSS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COQ1B</Synonym>
+              <Synonym lang="en">bA59I9.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60081">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164494</Reference>
+              </ExternalReference>
+              <ExternalReference id="42680">
+                <Source>Genatlas</Source>
+                <Reference>PDSS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="42681">
+                <Source>HGNC</Source>
+                <Reference>23041</Reference>
+              </ExternalReference>
+              <ExternalReference id="42682">
+                <Source>OMIM</Source>
+                <Reference>610564</Reference>
+              </ExternalReference>
+              <ExternalReference id="83148">
+                <Source>Reactome</Source>
+                <Reference>Q86YH6</Reference>
+              </ExternalReference>
+              <ExternalReference id="42683">
+                <Source>SwissProt</Source>
+                <Reference>Q86YH6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2489">
+      <OrphaCode>2728</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2728</ExpertLink>
+      <Name lang="en">Blepharophimosis-intellectual disability syndrome, Ohdo type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32694869[PMID]</SourceOfValidation>
+          <Gene id="20810">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2</Name>
+            <Symbol>SMARCA2</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">BAF190</Synonym>
+              <Synonym lang="en">BRM</Synonym>
+              <Synonym lang="en">SNF2</Synonym>
+              <Synonym lang="en">SNF2LA</Synonym>
+              <Synonym lang="en">SWI2</Synonym>
+              <Synonym lang="en">Sth1p</Synonym>
+              <Synonym lang="en">brahma homolog</Synonym>
+              <Synonym lang="en">hBRM</Synonym>
+              <Synonym lang="en">hSNF2a</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83258">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080503</Reference>
+              </ExternalReference>
+              <ExternalReference id="61005">
+                <Source>Genatlas</Source>
+                <Reference>SMARCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="61003">
+                <Source>HGNC</Source>
+                <Reference>11098</Reference>
+              </ExternalReference>
+              <ExternalReference id="88000">
+                <Source>IUPHAR</Source>
+                <Reference>2739</Reference>
+              </ExternalReference>
+              <ExternalReference id="61004">
+                <Source>OMIM</Source>
+                <Reference>600014</Reference>
+              </ExternalReference>
+              <ExternalReference id="91594">
+                <Source>Reactome</Source>
+                <Reference>P51531</Reference>
+              </ExternalReference>
+              <ExternalReference id="61006">
+                <Source>SwissProt</Source>
+                <Reference>P51531</Reference>
+              </ExternalReference>
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+                <GeneLocus>9p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="2482">
+      <OrphaCode>2721</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2721</ExpertLink>
+      <Name lang="en">Odonto-onycho-dermal dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17847007[PMID]_24458874[PMID]</SourceOfValidation>
+          <Gene id="16428">
+            <Name lang="en">Wnt family member 10A</Name>
+            <Symbol>WNT10A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31254">
+                <Source>HGNC</Source>
+                <Reference>13829</Reference>
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+              <ExternalReference id="31253">
+                <Source>OMIM</Source>
+                <Reference>606268</Reference>
+              </ExternalReference>
+              <ExternalReference id="58163">
+                <Source>Reactome</Source>
+                <Reference>Q9GZT5</Reference>
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+              <ExternalReference id="33489">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZT5</Reference>
+              </ExternalReference>
+              <ExternalReference id="58162">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135925</Reference>
+              </ExternalReference>
+              <ExternalReference id="36554">
+                <Source>Genatlas</Source>
+                <Reference>WNT10A</Reference>
+              </ExternalReference>
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+              <Locus id="9249">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>260305</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=260305</ExpertLink>
+      <Name lang="en">Autosomal recessive sideroblastic anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19412178[PMID]</SourceOfValidation>
+          <Gene id="18423">
+            <Name lang="en">solute carrier family 25 member 38</Name>
+            <Symbol>SLC25A38</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20551</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190370">
+                <Source>IUPHAR</Source>
+                <Reference>1089</Reference>
+              </ExternalReference>
+              <ExternalReference id="60493">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144659</Reference>
+              </ExternalReference>
+              <ExternalReference id="42007">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A38</Reference>
+              </ExternalReference>
+              <ExternalReference id="42009">
+                <Source>HGNC</Source>
+                <Reference>26054</Reference>
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+              <ExternalReference id="42008">
+                <Source>OMIM</Source>
+                <Reference>610819</Reference>
+              </ExternalReference>
+              <ExternalReference id="42010">
+                <Source>SwissProt</Source>
+                <Reference>Q96DW6</Reference>
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+                <GeneLocus>3p22.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26491070[PMID]</SourceOfValidation>
+          <Gene id="23644">
+            <Name lang="en">heat shock protein family A (Hsp70) member 9</Name>
+            <Symbol>HSPA9</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">75 kDa glucose-regulated protein</Synonym>
+              <Synonym lang="en">GRP75</Synonym>
+              <Synonym lang="en">PBP74</Synonym>
+              <Synonym lang="en">Stress-70 protein, mitochondrial</Synonym>
+              <Synonym lang="en">mortalin</Synonym>
+              <Synonym lang="en">mortalin2</Synonym>
+              <Synonym lang="en">mot-2</Synonym>
+              <Synonym lang="en">mthsp75</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>HSPA9</Reference>
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+                <Reference>5244</Reference>
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+                <Reference>600548</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P38646</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P38646</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113013</Reference>
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+                <GeneLocus>5q31.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Eye defects-arachnodactyly-cardiopathy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
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+          <SourceOfValidation>25149931[PMID] _29443383[PMID]</SourceOfValidation>
+          <Gene id="22187">
+            <Name lang="en">beta-1,3-galactosyltransferase 6</Name>
+            <Symbol>B3GALT6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">beta-1,3-galactosyltransferase-6</Synonym>
+              <Synonym lang="en">beta3GalT6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83889">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176022</Reference>
+              </ExternalReference>
+              <ExternalReference id="80076">
+                <Source>Genatlas</Source>
+                <Reference>B3GALT6</Reference>
+              </ExternalReference>
+              <ExternalReference id="80074">
+                <Source>HGNC</Source>
+                <Reference>17978</Reference>
+              </ExternalReference>
+              <ExternalReference id="80075">
+                <Source>OMIM</Source>
+                <Reference>615291</Reference>
+              </ExternalReference>
+              <ExternalReference id="83888">
+                <Source>Reactome</Source>
+                <Reference>Q96L58</Reference>
+              </ExternalReference>
+              <ExternalReference id="80077">
+                <Source>SwissProt</Source>
+                <Reference>Q96L58</Reference>
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+                <GeneLocus>1p36.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2510">
+      <OrphaCode>2754</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2754</ExpertLink>
+      <Name lang="en">Orofaciodigital syndrome type 6</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30905400[PMID]</SourceOfValidation>
+          <Gene id="28199">
+            <Name lang="en">family with sequence similarity 149 member B1</Name>
+            <Symbol>FAM149B1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="170969">
+                <Source>HGNC</Source>
+                <Reference>29162</Reference>
+              </ExternalReference>
+              <ExternalReference id="170970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138286</Reference>
+              </ExternalReference>
+              <ExternalReference id="170971">
+                <Source>SwissProt</Source>
+                <Reference>Q96BN6</Reference>
+              </ExternalReference>
+              <ExternalReference id="170972">
+                <Source>OMIM</Source>
+                <Reference>618413</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51939">
+                <GeneLocus>10q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301500[PMID]</SourceOfValidation>
+          <Gene id="16586">
+            <Name lang="en">OFD1 centriole and centriolar satellite protein</Name>
+            <Symbol>OFD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">71-7A</Synonym>
+              <Synonym lang="en">JBTS10</Synonym>
+              <Synonym lang="en">Joubert syndrome type 10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000046651</Reference>
+              </ExternalReference>
+              <ExternalReference id="31995">
+                <Source>Genatlas</Source>
+                <Reference>OFD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31997">
+                <Source>HGNC</Source>
+                <Reference>2567</Reference>
+              </ExternalReference>
+              <ExternalReference id="31996">
+                <Source>OMIM</Source>
+                <Reference>300170</Reference>
+              </ExternalReference>
+              <ExternalReference id="57604">
+                <Source>Reactome</Source>
+                <Reference>O75665</Reference>
+              </ExternalReference>
+              <ExternalReference id="33651">
+                <Source>SwissProt</Source>
+                <Reference>O75665</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22095">
+                <GeneLocus>Xp22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20615230[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="18961">
+            <Name lang="en">transmembrane protein 216</Name>
+            <Symbol>TMEM216</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HSPC244</Synonym>
+              <Synonym lang="en">JBTS2</Synonym>
+              <Synonym lang="en">MGC13379</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187049</Reference>
+              </ExternalReference>
+              <ExternalReference id="44179">
+                <Source>Genatlas</Source>
+                <Reference>TMEM216</Reference>
+              </ExternalReference>
+              <ExternalReference id="44180">
+                <Source>HGNC</Source>
+                <Reference>25018</Reference>
+              </ExternalReference>
+              <ExternalReference id="44181">
+                <Source>OMIM</Source>
+                <Reference>613277</Reference>
+              </ExternalReference>
+              <ExternalReference id="97287">
+                <Source>Reactome</Source>
+                <Reference>Q9P0N5</Reference>
+              </ExternalReference>
+              <ExternalReference id="44182">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0N5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16821">
+                <GeneLocus>11q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301500[PMID]_21633164[PMID]</SourceOfValidation>
+          <Gene id="20160">
+            <Name lang="en">kinesin family member 7</Name>
+            <Symbol>KIF7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JBTS12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57240">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166813</Reference>
+              </ExternalReference>
+              <ExternalReference id="51758">
+                <Source>Genatlas</Source>
+                <Reference>KIF7</Reference>
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+              <ExternalReference id="51756">
+                <Source>HGNC</Source>
+                <Reference>30497</Reference>
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+              <ExternalReference id="51757">
+                <Source>OMIM</Source>
+                <Reference>611254</Reference>
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+              <ExternalReference id="97306">
+                <Source>Reactome</Source>
+                <Reference>Q2M1P5</Reference>
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+              <ExternalReference id="51759">
+                <Source>SwissProt</Source>
+                <Reference>Q2M1P5</Reference>
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+            <LocusList count="1">
+              <Locus id="16859">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24178751[PMID]</SourceOfValidation>
+          <Gene id="21089">
+            <Name lang="en">ciliogenesis and planar polarity effector complex subunit 1</Name>
+            <Symbol>CPLANE1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ13231</Synonym>
+              <Synonym lang="en">Hug</Synonym>
+              <Synonym lang="en">JBTS17</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83355">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197603</Reference>
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+              <ExternalReference id="61849">
+                <Source>Genatlas</Source>
+                <Reference>C5orf42</Reference>
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+              <ExternalReference id="61847">
+                <Source>HGNC</Source>
+                <Reference>25801</Reference>
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+              <ExternalReference id="61848">
+                <Source>OMIM</Source>
+                <Reference>614571</Reference>
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+              <ExternalReference id="61850">
+                <Source>SwissProt</Source>
+                <Reference>Q9H799</Reference>
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+            <LocusList count="1">
+              <Locus id="14079">
+                <GeneLocus>5p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22883145[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="21406">
+            <Name lang="en">tectonic family member 3</Name>
+            <Symbol>TCTN3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZP564D116</Synonym>
+              <Synonym lang="en">JBTS18</Synonym>
+              <Synonym lang="en">TECT3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119977</Reference>
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+              <ExternalReference id="70792">
+                <Source>Genatlas</Source>
+                <Reference>TCTN3</Reference>
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+              <ExternalReference id="70790">
+                <Source>HGNC</Source>
+                <Reference>24519</Reference>
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+              <ExternalReference id="70791">
+                <Source>OMIM</Source>
+                <Reference>613847</Reference>
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+              <ExternalReference id="97331">
+                <Source>Reactome</Source>
+                <Reference>Q6NUS6</Reference>
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+              <ExternalReference id="70793">
+                <Source>SwissProt</Source>
+                <Reference>Q6NUS6</Reference>
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+                <GeneLocus>10q24.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24166846[PMID]</SourceOfValidation>
+          <Gene id="22646">
+            <Name lang="en">phosphodiesterase 6D</Name>
+            <Symbol>PDE6D</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JBTS22</Synonym>
+              <Synonym lang="en">retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="87618">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156973</Reference>
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+              <ExternalReference id="85467">
+                <Source>Genatlas</Source>
+                <Reference>PDE6D</Reference>
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+              <ExternalReference id="85465">
+                <Source>HGNC</Source>
+                <Reference>8788</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O43924</Reference>
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+              <ExternalReference id="85468">
+                <Source>SwissProt</Source>
+                <Reference>O43924</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17333">
+            <Name lang="en">TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase</Name>
+            <Symbol>TOPORS</Symbol>
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+              <Synonym lang="en">LUN</Synonym>
+              <Synonym lang="en">TP53BPL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57584">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197579</Reference>
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+              <ExternalReference id="36853">
+                <Source>Genatlas</Source>
+                <Reference>TOPORS</Reference>
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+              <ExternalReference id="36855">
+                <Source>HGNC</Source>
+                <Reference>21653</Reference>
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+              <ExternalReference id="36854">
+                <Source>OMIM</Source>
+                <Reference>609507</Reference>
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+              <ExternalReference id="36856">
+                <Source>SwissProt</Source>
+                <Reference>Q9NS56</Reference>
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+                <GeneLocus>9p21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26643951[PMID]</SourceOfValidation>
+          <Gene id="25094">
+            <Name lang="en">KIAA0753</Name>
+            <Symbol>KIAA0753</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MNR</Synonym>
+              <Synonym lang="en">OFD1 and FOPNL interacting protein</Synonym>
+              <Synonym lang="en">OFIP</Synonym>
+              <Synonym lang="en">moonraker</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>29110</Reference>
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+              <ExternalReference id="134862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198920</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q2KHM9</Reference>
+              </ExternalReference>
+              <ExternalReference id="134859">
+                <Source>OMIM</Source>
+                <Reference>617112</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>KIAA0753</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q2KHM9</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="2509">
+      <OrphaCode>2753</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2753</ExpertLink>
+      <Name lang="en">Orofaciodigital syndrome type 4</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22883145[PMID]</SourceOfValidation>
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+            <Name lang="en">tectonic family member 3</Name>
+            <Symbol>TCTN3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZP564D116</Synonym>
+              <Synonym lang="en">JBTS18</Synonym>
+              <Synonym lang="en">TECT3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119977</Reference>
+              </ExternalReference>
+              <ExternalReference id="70792">
+                <Source>Genatlas</Source>
+                <Reference>TCTN3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24519</Reference>
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+              <ExternalReference id="70791">
+                <Source>OMIM</Source>
+                <Reference>613847</Reference>
+              </ExternalReference>
+              <ExternalReference id="97331">
+                <Source>Reactome</Source>
+                <Reference>Q6NUS6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6NUS6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>2752</OrphaCode>
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+      <Name lang="en">Orofaciodigital syndrome type 3</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="21736">
+            <Name lang="en">transmembrane protein 231</Name>
+            <Symbol>TMEM231</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">FLJ22167</Synonym>
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+              <Synonym lang="en">MKS11</Synonym>
+              <Synonym lang="en">PRO1886</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000205084</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TMEM231</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>37234</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614949</Reference>
+              </ExternalReference>
+              <ExternalReference id="76133">
+                <Source>SwissProt</Source>
+                <Reference>Q9H6L2</Reference>
+              </ExternalReference>
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+                <GeneLocus>16q23.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2507">
+      <OrphaCode>2751</OrphaCode>
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+      <Name lang="en">Orofaciodigital syndrome type 2</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NIMA related kinase 1</Name>
+            <Symbol>NEK1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1901</Synonym>
+              <Synonym lang="en">NY-REN-55</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143933">
+                <Source>Reactome</Source>
+                <Reference>Q96PY6</Reference>
+              </ExternalReference>
+              <ExternalReference id="59674">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137601</Reference>
+              </ExternalReference>
+              <ExternalReference id="50632">
+                <Source>Genatlas</Source>
+                <Reference>NEK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="50631">
+                <Source>HGNC</Source>
+                <Reference>7744</Reference>
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+              <ExternalReference id="83193">
+                <Source>IUPHAR</Source>
+                <Reference>2114</Reference>
+              </ExternalReference>
+              <ExternalReference id="50630">
+                <Source>OMIM</Source>
+                <Reference>604588</Reference>
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+              <ExternalReference id="50633">
+                <Source>SwissProt</Source>
+                <Reference>Q96PY6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="39333">
+                <GeneLocus>4q33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19722">
+      <OrphaCode>252128</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=252128</ExpertLink>
+      <Name lang="en">Malignant peripheral nerve sheath tumor with perineurial differentiation</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27723760[PMID]</SourceOfValidation>
+          <Gene id="25204">
+            <Name lang="en">SH3 and PX domains 2A</Name>
+            <Symbol>SH3PXD2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FISH</Synonym>
+              <Synonym lang="en">KIAA0418</Synonym>
+              <Synonym lang="en">five SH3 domains</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143104">
+                <Source>Reactome</Source>
+                <Reference>Q5TCZ1</Reference>
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+              <ExternalReference id="194431">
+                <Source>OMIM</Source>
+                <Reference>619455</Reference>
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+              <ExternalReference id="136302">
+                <Source>SwissProt</Source>
+                <Reference>Q5TCZ1</Reference>
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+              <ExternalReference id="136300">
+                <Source>HGNC</Source>
+                <Reference>23664</Reference>
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+              <ExternalReference id="136301">
+                <Source>Genatlas</Source>
+                <Reference>SH3PXD2A</Reference>
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+              <ExternalReference id="136303">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107957</Reference>
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+                <GeneLocus>10q24.33</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27723760[PMID]</SourceOfValidation>
+          <Gene id="16824">
+            <Name lang="en">HtrA serine peptidase 1</Name>
+            <Symbol>HTRA1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ARMD7</Synonym>
+              <Synonym lang="en">HtrA</Synonym>
+              <Synonym lang="en">IGFBP5-protease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166033</Reference>
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+              <ExternalReference id="35126">
+                <Source>Genatlas</Source>
+                <Reference>HTRA1</Reference>
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+              <ExternalReference id="35125">
+                <Source>HGNC</Source>
+                <Reference>9476</Reference>
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+              <ExternalReference id="35128">
+                <Source>OMIM</Source>
+                <Reference>602194</Reference>
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+              <ExternalReference id="35127">
+                <Source>SwissProt</Source>
+                <Reference>Q92743</Reference>
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+              <ExternalReference id="203219">
+                <Source>IUPHAR</Source>
+                <Reference>3194</Reference>
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+              <ExternalReference id="100312">
+                <Source>Reactome</Source>
+                <Reference>Q92743</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>10q26.13</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2506">
+      <OrphaCode>2750</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2750</ExpertLink>
+      <Name lang="en">Orofaciodigital syndrome type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301367[PMID]</SourceOfValidation>
+          <Gene id="16586">
+            <Name lang="en">OFD1 centriole and centriolar satellite protein</Name>
+            <Symbol>OFD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">71-7A</Synonym>
+              <Synonym lang="en">JBTS10</Synonym>
+              <Synonym lang="en">Joubert syndrome type 10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000046651</Reference>
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+              <ExternalReference id="31995">
+                <Source>Genatlas</Source>
+                <Reference>OFD1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2567</Reference>
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+              <ExternalReference id="31996">
+                <Source>OMIM</Source>
+                <Reference>300170</Reference>
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+              <ExternalReference id="57604">
+                <Source>Reactome</Source>
+                <Reference>O75665</Reference>
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+              <ExternalReference id="33651">
+                <Source>SwissProt</Source>
+                <Reference>O75665</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Congenital central hypoventilation syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
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+          <Gene id="15089">
+            <Name lang="en">paired like homeobox 2B</Name>
+            <Symbol>PHOX2B</Symbol>
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+              <Synonym lang="en">NBPhox</Synonym>
+              <Synonym lang="en">Phox2b</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>603851</Reference>
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+              <ExternalReference id="32780">
+                <Source>SwissProt</Source>
+                <Reference>Q99453</Reference>
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+              <ExternalReference id="57372">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109132</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8696331[PMID]_20301600[PMID]</SourceOfValidation>
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+            <Name lang="en">endothelin 3</Name>
+            <Symbol>EDN3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+          <Gene id="16116">
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+              <Synonym lang="en">astrocyte-derived trophic factor</Synonym>
+              <Synonym lang="en">glial cell line derived neurotrophic factor</Synonym>
+              <Synonym lang="en">glial derived neurotrophic factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+              <Synonym lang="en">FLJ37587</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+          <Gene id="15367">
+            <Name lang="en">brain derived neurotrophic factor</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176697</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">MAF bZIP transcription factor B</Name>
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+                <Reference>6408</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Q3</Reference>
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+      <Name lang="en">Nasu-Hakola disease</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301376[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58272">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
+              </ExternalReference>
+              <ExternalReference id="37386">
+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27568">
+                <Source>HGNC</Source>
+                <Reference>17761</Reference>
+              </ExternalReference>
+              <ExternalReference id="27567">
+                <Source>OMIM</Source>
+                <Reference>605086</Reference>
+              </ExternalReference>
+              <ExternalReference id="58273">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32627">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZC2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7813">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301376[PMID]</SourceOfValidation>
+          <Gene id="15678">
+            <Name lang="en">transmembrane immune signaling adaptor TYROBP</Name>
+            <Symbol>TYROBP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DAP12</Synonym>
+              <Synonym lang="en">DNAX adaptor protein 12</Synonym>
+              <Synonym lang="en">DNAX-activation protein 12</Synonym>
+              <Synonym lang="en">KARAP</Synonym>
+              <Synonym lang="en">PLO-SL</Synonym>
+              <Synonym lang="en">killer activating receptor associated protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58270">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011600</Reference>
+              </ExternalReference>
+              <ExternalReference id="27677">
+                <Source>Genatlas</Source>
+                <Reference>TYROBP</Reference>
+              </ExternalReference>
+              <ExternalReference id="27679">
+                <Source>HGNC</Source>
+                <Reference>12449</Reference>
+              </ExternalReference>
+              <ExternalReference id="27678">
+                <Source>OMIM</Source>
+                <Reference>604142</Reference>
+              </ExternalReference>
+              <ExternalReference id="58271">
+                <Source>Reactome</Source>
+                <Reference>O43914</Reference>
+              </ExternalReference>
+              <ExternalReference id="32650">
+                <Source>SwissProt</Source>
+                <Reference>O43914</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15893">
+                <GeneLocus>19q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19738">
+      <OrphaCode>254343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254343</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20970105[PMID]</SourceOfValidation>
+          <Gene id="21429">
+            <Name lang="en">mitochondrial poly(A) polymerase</Name>
+            <Symbol>MTPAP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ10486</Synonym>
+              <Synonym lang="en">SPAX4</Synonym>
+              <Synonym lang="en">TENT6</Synonym>
+              <Synonym lang="en">TUTase1</Synonym>
+              <Synonym lang="en">mtPAP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83495">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107951</Reference>
+              </ExternalReference>
+              <ExternalReference id="71787">
+                <Source>Genatlas</Source>
+                <Reference>MTPAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="71785">
+                <Source>HGNC</Source>
+                <Reference>25532</Reference>
+              </ExternalReference>
+              <ExternalReference id="71786">
+                <Source>OMIM</Source>
+                <Reference>613669</Reference>
+              </ExternalReference>
+              <ExternalReference id="71788">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVV4</Reference>
+              </ExternalReference>
+              <ExternalReference id="143916">
+                <Source>Reactome</Source>
+                <Reference>Q9NVV4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39297">
+                <GeneLocus>10p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19736">
+      <OrphaCode>254334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254334</ExpertLink>
+      <Name lang="en">Autosomal recessive intermediate Charcot-Marie-Tooth disease type B</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20920668[PMID]</SourceOfValidation>
+          <Gene id="20149">
+            <Name lang="en">lysyl-tRNA synthetase 1</Name>
+            <Symbol>KARS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KARS1</Synonym>
+              <Synonym lang="en">KARS2</Synonym>
+              <Synonym lang="en">lysine tRNA ligase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065427</Reference>
+              </ExternalReference>
+              <ExternalReference id="51553">
+                <Source>Genatlas</Source>
+                <Reference>KARS</Reference>
+              </ExternalReference>
+              <ExternalReference id="51551">
+                <Source>HGNC</Source>
+                <Reference>6215</Reference>
+              </ExternalReference>
+              <ExternalReference id="51552">
+                <Source>OMIM</Source>
+                <Reference>601421</Reference>
+              </ExternalReference>
+              <ExternalReference id="60478">
+                <Source>Reactome</Source>
+                <Reference>Q15046</Reference>
+              </ExternalReference>
+              <ExternalReference id="51554">
+                <Source>SwissProt</Source>
+                <Reference>Q15046</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11435">
+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2516">
+      <OrphaCode>2762</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2762</ExpertLink>
+      <Name lang="en">Progressive osseous heteroplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14723729[PMID]_20427508[PMID]_17321228[PMID]</SourceOfValidation>
+          <Gene id="16147">
+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">G protein subunit alpha S</Synonym>
+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="9">
+              <ExternalReference id="82607">
+                <Source>SwissProt</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95207">
+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
+              </ExternalReference>
+              <ExternalReference id="95206">
+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="57099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+              <ExternalReference id="29938">
+                <Source>Genatlas</Source>
+                <Reference>GNAS</Reference>
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+              <ExternalReference id="29933">
+                <Source>HGNC</Source>
+                <Reference>4392</Reference>
+              </ExternalReference>
+              <ExternalReference id="29932">
+                <Source>OMIM</Source>
+                <Reference>139320</Reference>
+              </ExternalReference>
+              <ExternalReference id="126516">
+                <Source>Reactome</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95208">
+                <Source>SwissProt</Source>
+                <Reference>O95467</Reference>
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+            <LocusList count="1">
+              <Locus id="58533">
+                <GeneLocus>20q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19733">
+      <OrphaCode>252212</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=252212</ExpertLink>
+      <Name lang="en">Malignant triton tumor</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27723760[PMID]</SourceOfValidation>
+          <Gene id="25204">
+            <Name lang="en">SH3 and PX domains 2A</Name>
+            <Symbol>SH3PXD2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FISH</Synonym>
+              <Synonym lang="en">KIAA0418</Synonym>
+              <Synonym lang="en">five SH3 domains</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143104">
+                <Source>Reactome</Source>
+                <Reference>Q5TCZ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="194431">
+                <Source>OMIM</Source>
+                <Reference>619455</Reference>
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+              <ExternalReference id="136302">
+                <Source>SwissProt</Source>
+                <Reference>Q5TCZ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="136300">
+                <Source>HGNC</Source>
+                <Reference>23664</Reference>
+              </ExternalReference>
+              <ExternalReference id="136301">
+                <Source>Genatlas</Source>
+                <Reference>SH3PXD2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="136303">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107957</Reference>
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+            <LocusList count="1">
+              <Locus id="69505">
+                <GeneLocus>10q24.33</GeneLocus>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27723760[PMID]</SourceOfValidation>
+          <Gene id="16824">
+            <Name lang="en">HtrA serine peptidase 1</Name>
+            <Symbol>HTRA1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ARMD7</Synonym>
+              <Synonym lang="en">HtrA</Synonym>
+              <Synonym lang="en">IGFBP5-protease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166033</Reference>
+              </ExternalReference>
+              <ExternalReference id="35126">
+                <Source>Genatlas</Source>
+                <Reference>HTRA1</Reference>
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+              <ExternalReference id="35125">
+                <Source>HGNC</Source>
+                <Reference>9476</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602194</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92743</Reference>
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+              <ExternalReference id="203219">
+                <Source>IUPHAR</Source>
+                <Reference>3194</Reference>
+              </ExternalReference>
+              <ExternalReference id="100312">
+                <Source>Reactome</Source>
+                <Reference>Q92743</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2517">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2763</ExpertLink>
+      <Name lang="en">Osteocraniostenosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="22200">
+            <Name lang="en">FAM111 trypsin like peptidase A</Name>
+            <Symbol>FAM111A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22794</Synonym>
+              <Synonym lang="en">KIAA1895</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83892">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166801</Reference>
+              </ExternalReference>
+              <ExternalReference id="80101">
+                <Source>Genatlas</Source>
+                <Reference>FAM111A</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>24725</Reference>
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+              <ExternalReference id="80100">
+                <Source>OMIM</Source>
+                <Reference>615292</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PZ2</Reference>
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+    <Disorder id="19732">
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+      <Name lang="en">Melanoma and neural system tumor syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11136714[PMID]</SourceOfValidation>
+          <Gene id="15426">
+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
+            <Symbol>CDKN2A</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">ARF</Synonym>
+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">CMM2</Synonym>
+              <Synonym lang="en">INK4</Synonym>
+              <Synonym lang="en">INK4a</Synonym>
+              <Synonym lang="en">MTS1</Synonym>
+              <Synonym lang="en">p14</Synonym>
+              <Synonym lang="en">p14ARF</Synonym>
+              <Synonym lang="en">p16</Synonym>
+              <Synonym lang="en">p16INK4a</Synonym>
+              <Synonym lang="en">p19</Synonym>
+              <Synonym lang="en">p19Arf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58645">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147889</Reference>
+              </ExternalReference>
+              <ExternalReference id="26459">
+                <Source>Genatlas</Source>
+                <Reference>CDKN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="26461">
+                <Source>HGNC</Source>
+                <Reference>1787</Reference>
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+              <ExternalReference id="26460">
+                <Source>OMIM</Source>
+                <Reference>600160</Reference>
+              </ExternalReference>
+              <ExternalReference id="82807">
+                <Source>Reactome</Source>
+                <Reference>P42771</Reference>
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+              <ExternalReference id="82604">
+                <Source>SwissProt</Source>
+                <Reference>P42771</Reference>
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+                <GeneLocus>9p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="19731">
+      <OrphaCode>252202</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=252202</ExpertLink>
+      <Name lang="en">Constitutional mismatch repair deficiency syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20442441[PMID]_23483711[PMID]</SourceOfValidation>
+          <Gene id="15116">
+            <Name lang="en">PMS1 homolog 2, mismatch repair system component</Name>
+            <Symbol>PMS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HNPCC4</Synonym>
+              <Synonym lang="en">H_DJ0042M02.9</Synonym>
+              <Synonym lang="en">MLH4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58414">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122512</Reference>
+              </ExternalReference>
+              <ExternalReference id="24984">
+                <Source>Genatlas</Source>
+                <Reference>PMS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24986">
+                <Source>HGNC</Source>
+                <Reference>9122</Reference>
+              </ExternalReference>
+              <ExternalReference id="24985">
+                <Source>OMIM</Source>
+                <Reference>600259</Reference>
+              </ExternalReference>
+              <ExternalReference id="91582">
+                <Source>Reactome</Source>
+                <Reference>P54278</Reference>
+              </ExternalReference>
+              <ExternalReference id="32807">
+                <Source>SwissProt</Source>
+                <Reference>P54278</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6801">
+                <GeneLocus>7p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20442441[PMID]</SourceOfValidation>
+          <Gene id="16407">
+            <Name lang="en">mutL homolog 1</Name>
+            <Symbol>MLH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FCC2</Synonym>
+              <Synonym lang="en">HNPCC</Synonym>
+              <Synonym lang="en">HNPCC2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57365">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076242</Reference>
+              </ExternalReference>
+              <ExternalReference id="31167">
+                <Source>Genatlas</Source>
+                <Reference>MLH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31165">
+                <Source>HGNC</Source>
+                <Reference>7127</Reference>
+              </ExternalReference>
+              <ExternalReference id="31164">
+                <Source>OMIM</Source>
+                <Reference>120436</Reference>
+              </ExternalReference>
+              <ExternalReference id="57366">
+                <Source>Reactome</Source>
+                <Reference>P40692</Reference>
+              </ExternalReference>
+              <ExternalReference id="33471">
+                <Source>SwissProt</Source>
+                <Reference>P40692</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23875">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20442441[PMID]_23483711[PMID]</SourceOfValidation>
+          <Gene id="16466">
+            <Name lang="en">mutS homolog 2</Name>
+            <Symbol>MSH2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DNA mismatch repair protein Msh2</Synonym>
+              <Synonym lang="en">HNPCC</Synonym>
+              <Synonym lang="en">HNPCC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57367">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095002</Reference>
+              </ExternalReference>
+              <ExternalReference id="31436">
+                <Source>Genatlas</Source>
+                <Reference>MSH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31434">
+                <Source>HGNC</Source>
+                <Reference>7325</Reference>
+              </ExternalReference>
+              <ExternalReference id="31433">
+                <Source>OMIM</Source>
+                <Reference>609309</Reference>
+              </ExternalReference>
+              <ExternalReference id="91589">
+                <Source>Reactome</Source>
+                <Reference>P43246</Reference>
+              </ExternalReference>
+              <ExternalReference id="33531">
+                <Source>SwissProt</Source>
+                <Reference>P43246</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23085">
+                <GeneLocus>2p21-p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20442441[PMID]_23483711[PMID]</SourceOfValidation>
+          <Gene id="16467">
+            <Name lang="en">mutS homolog 6</Name>
+            <Symbol>MSH6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58412">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116062</Reference>
+              </ExternalReference>
+              <ExternalReference id="31438">
+                <Source>Genatlas</Source>
+                <Reference>MSH6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31440">
+                <Source>HGNC</Source>
+                <Reference>7329</Reference>
+              </ExternalReference>
+              <ExternalReference id="31439">
+                <Source>OMIM</Source>
+                <Reference>600678</Reference>
+              </ExternalReference>
+              <ExternalReference id="91590">
+                <Source>Reactome</Source>
+                <Reference>P52701</Reference>
+              </ExternalReference>
+              <ExternalReference id="33532">
+                <Source>SwissProt</Source>
+                <Reference>P52701</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24697">
+                <GeneLocus>2p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2540">
+      <OrphaCode>2792</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2792</ExpertLink>
+      <Name lang="en">Otofaciocervical syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16441263[PMID]</SourceOfValidation>
+          <Gene id="16006">
+            <Name lang="en">EYA transcriptional coactivator and phosphatase 1</Name>
+            <Symbol>EYA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57044">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104313</Reference>
+              </ExternalReference>
+              <ExternalReference id="29237">
+                <Source>Genatlas</Source>
+                <Reference>EYA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29235">
+                <Source>HGNC</Source>
+                <Reference>3519</Reference>
+              </ExternalReference>
+              <ExternalReference id="29234">
+                <Source>OMIM</Source>
+                <Reference>601653</Reference>
+              </ExternalReference>
+              <ExternalReference id="97218">
+                <Source>Reactome</Source>
+                <Reference>Q99502</Reference>
+              </ExternalReference>
+              <ExternalReference id="33020">
+                <Source>SwissProt</Source>
+                <Reference>Q99502</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16683">
+                <GeneLocus>8q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23851939[PMID]</SourceOfValidation>
+          <Gene id="22565">
+            <Name lang="en">paired box 1</Name>
+            <Symbol>PAX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84600">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125813</Reference>
+              </ExternalReference>
+              <ExternalReference id="84371">
+                <Source>Genatlas</Source>
+                <Reference>PAX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="84369">
+                <Source>HGNC</Source>
+                <Reference>8615</Reference>
+              </ExternalReference>
+              <ExternalReference id="84370">
+                <Source>OMIM</Source>
+                <Reference>167411</Reference>
+              </ExternalReference>
+              <ExternalReference id="84372">
+                <Source>SwissProt</Source>
+                <Reference>P15863</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12955">
+                <GeneLocus>20p11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19758">
+      <OrphaCode>254525</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254525</ExpertLink>
+      <Name lang="en">Temple syndrome due to paternal 14q32.2 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
+          <Gene id="17275">
+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTL2</Synonym>
+              <Synonym lang="en">LINC00023</Synonym>
+              <Synonym lang="en">NCRNA00023</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">onco-lncRNA-83</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="59776">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
+              </ExternalReference>
+              <ExternalReference id="36575">
+                <Source>Genatlas</Source>
+                <Reference>MEG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="36574">
+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
+              </ExternalReference>
+              <ExternalReference id="36576">
+                <Source>OMIM</Source>
+                <Reference>605636</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36471">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Delta1</Synonym>
+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59774">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
+              </ExternalReference>
+              <ExternalReference id="36967">
+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36969">
+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
+              </ExternalReference>
+              <ExternalReference id="36968">
+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
+              </ExternalReference>
+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+              <ExternalReference id="36970">
+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13737">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17276">
+            <Name lang="en">retrotransposon Gag like 1</Name>
+            <Symbol>RTL1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HUR1</Synonym>
+              <Synonym lang="en">MART1</Synonym>
+              <Synonym lang="en">Mar1</Synonym>
+              <Synonym lang="en">PEG11</Synonym>
+              <Synonym lang="en">SIRH2</Synonym>
+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
+              </ExternalReference>
+              <ExternalReference id="36579">
+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36580">
+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
+              </ExternalReference>
+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
+                <Reference>611896</Reference>
+              </ExternalReference>
+              <ExternalReference id="37575">
+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9963">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2542">
+      <OrphaCode>2796</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2796</ExpertLink>
+      <Name lang="en">Pachydermoperiostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22197487[PMID]_22331663[PMID]</SourceOfValidation>
+          <Gene id="20794">
+            <Name lang="en">solute carrier organic anion transporter family member 2A1</Name>
+            <Symbol>SLCO2A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">OATP2A1</Synonym>
+              <Synonym lang="en">PGT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190532">
+                <Source>IUPHAR</Source>
+                <Reference>1223</Reference>
+              </ExternalReference>
+              <ExternalReference id="60714">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174640</Reference>
+              </ExternalReference>
+              <ExternalReference id="60712">
+                <Source>Genatlas</Source>
+                <Reference>SLCO2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="60710">
+                <Source>HGNC</Source>
+                <Reference>10955</Reference>
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+              <ExternalReference id="60711">
+                <Source>OMIM</Source>
+                <Reference>601460</Reference>
+              </ExternalReference>
+              <ExternalReference id="83244">
+                <Source>Reactome</Source>
+                <Reference>Q92959</Reference>
+              </ExternalReference>
+              <ExternalReference id="60713">
+                <Source>SwissProt</Source>
+                <Reference>Q92959</Reference>
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+            <LocusList count="1">
+              <Locus id="60473">
+                <GeneLocus>3q22.1-q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18500342[PMID]</SourceOfValidation>
+          <Gene id="17727">
+            <Name lang="en">15-hydroxyprostaglandin dehydrogenase</Name>
+            <Symbol>HPGD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">15-hydroxyprostaglandin dehydrogenase (NAD(+))</Synonym>
+              <Synonym lang="en">SDR36C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 36C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="39258">
+                <Source>OMIM</Source>
+                <Reference>601688</Reference>
+              </ExternalReference>
+              <ExternalReference id="83114">
+                <Source>Reactome</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="39259">
+                <Source>SwissProt</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="58084">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164120</Reference>
+              </ExternalReference>
+              <ExternalReference id="39256">
+                <Source>Genatlas</Source>
+                <Reference>HPGD</Reference>
+              </ExternalReference>
+              <ExternalReference id="39257">
+                <Source>HGNC</Source>
+                <Reference>5154</Reference>
+              </ExternalReference>
+              <ExternalReference id="190362">
+                <Source>IUPHAR</Source>
+                <Reference>1384</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60133">
+                <GeneLocus>4q34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19759">
+      <OrphaCode>254528</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254528</ExpertLink>
+      <Name lang="en">Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17276">
+            <Name lang="en">retrotransposon Gag like 1</Name>
+            <Symbol>RTL1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HUR1</Synonym>
+              <Synonym lang="en">MART1</Synonym>
+              <Synonym lang="en">Mar1</Synonym>
+              <Synonym lang="en">PEG11</Synonym>
+              <Synonym lang="en">SIRH2</Synonym>
+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
+              </ExternalReference>
+              <ExternalReference id="36579">
+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36580">
+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
+              </ExternalReference>
+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
+                <Reference>611896</Reference>
+              </ExternalReference>
+              <ExternalReference id="37575">
+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9963">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
+          <Gene id="17275">
+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTL2</Synonym>
+              <Synonym lang="en">LINC00023</Synonym>
+              <Synonym lang="en">NCRNA00023</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">onco-lncRNA-83</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="59776">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
+              </ExternalReference>
+              <ExternalReference id="36575">
+                <Source>Genatlas</Source>
+                <Reference>MEG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="36574">
+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
+              </ExternalReference>
+              <ExternalReference id="36576">
+                <Source>OMIM</Source>
+                <Reference>605636</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36471">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Delta1</Synonym>
+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59774">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
+              </ExternalReference>
+              <ExternalReference id="36967">
+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36969">
+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
+              </ExternalReference>
+              <ExternalReference id="36968">
+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
+              </ExternalReference>
+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+              <ExternalReference id="36970">
+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13737">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2537">
+      <OrphaCode>2789</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2789</ExpertLink>
+      <Name lang="en">Lateral meningocele syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25394726[PMID]</SourceOfValidation>
+          <Gene id="16559">
+            <Name lang="en">notch receptor 3</Name>
+            <Symbol>NOTCH3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CASIL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074181</Reference>
+              </ExternalReference>
+              <ExternalReference id="31867">
+                <Source>Genatlas</Source>
+                <Reference>NOTCH3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31865">
+                <Source>HGNC</Source>
+                <Reference>7883</Reference>
+              </ExternalReference>
+              <ExternalReference id="31864">
+                <Source>OMIM</Source>
+                <Reference>600276</Reference>
+              </ExternalReference>
+              <ExternalReference id="57902">
+                <Source>Reactome</Source>
+                <Reference>Q9UM47</Reference>
+              </ExternalReference>
+              <ExternalReference id="33624">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM47</Reference>
+              </ExternalReference>
+              <ExternalReference id="190374">
+                <Source>IUPHAR</Source>
+                <Reference>2860</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60157">
+                <GeneLocus>19p13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2536">
+      <OrphaCode>2788</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2788</ExpertLink>
+      <Name lang="en">Osteoporosis-pseudoglioma syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21407258[PMID]_16679074[PMID]_16252235[PMID]</SourceOfValidation>
+          <Gene id="16372">
+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
+              </ExternalReference>
+              <ExternalReference id="31002">
+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
+              </ExternalReference>
+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
+              </ExternalReference>
+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+              <ExternalReference id="33437">
+                <Source>SwissProt</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24603">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2539">
+      <OrphaCode>2791</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2791</ExpertLink>
+      <Name lang="en">Otodental syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17656375[PMID]</SourceOfValidation>
+          <Gene id="17362">
+            <Name lang="en">fibroblast growth factor 3</Name>
+            <Symbol>FGF3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HBGF-3</Synonym>
+              <Synonym lang="en">INT-2 proto-oncogene protein</Synonym>
+              <Synonym lang="en">V-INT2 murine mammary tumor virus integration site oncogene homolog</Synonym>
+              <Synonym lang="en">murine mammary tumor virus integration site 2, mouse</Synonym>
+              <Synonym lang="en">oncogene INT2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58282">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186895</Reference>
+              </ExternalReference>
+              <ExternalReference id="37039">
+                <Source>Genatlas</Source>
+                <Reference>FGF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="37041">
+                <Source>HGNC</Source>
+                <Reference>3681</Reference>
+              </ExternalReference>
+              <ExternalReference id="37040">
+                <Source>OMIM</Source>
+                <Reference>164950</Reference>
+              </ExternalReference>
+              <ExternalReference id="58283">
+                <Source>Reactome</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+              <ExternalReference id="37042">
+                <Source>SwissProt</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23053">
+                <GeneLocus>11q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="2538">
+      <OrphaCode>2790</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2790</ExpertLink>
+      <Name lang="en">Endosteal hyperostosis, Worth type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12579474[PMID]</SourceOfValidation>
+          <Gene id="16372">
+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
+              </ExternalReference>
+              <ExternalReference id="31002">
+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
+              </ExternalReference>
+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
+              </ExternalReference>
+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+              <ExternalReference id="33437">
+                <Source>SwissProt</Source>
+                <Reference>O75197</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2533">
+      <OrphaCode>1306</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1306</ExpertLink>
+      <Name lang="en">Buschke-Ollendorff syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>15489854[PMID]</SourceOfValidation>
+          <Gene id="16349">
+            <Name lang="en">LEM domain containing 3</Name>
+            <Symbol>LEMD3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAN antigen 1</Synonym>
+              <Synonym lang="en">MAN1</Synonym>
+              <Synonym lang="en">inner nuclear membrane protein Man1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174106</Reference>
+              </ExternalReference>
+              <ExternalReference id="30893">
+                <Source>Genatlas</Source>
+                <Reference>LEMD3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30891">
+                <Source>HGNC</Source>
+                <Reference>28887</Reference>
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+              <ExternalReference id="30890">
+                <Source>OMIM</Source>
+                <Reference>607844</Reference>
+              </ExternalReference>
+              <ExternalReference id="82979">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2U8</Reference>
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+              <ExternalReference id="33414">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2U8</Reference>
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+                <GeneLocus>12q14.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2532">
+      <OrphaCode>2783</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2783</ExpertLink>
+      <Name lang="en">Autosomal dominant osteopetrosis type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21600326[PMID]_12579474[PMID]</SourceOfValidation>
+          <Gene id="16372">
+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
+              </ExternalReference>
+              <ExternalReference id="31002">
+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
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+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
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+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
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+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75197</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2529">
+      <OrphaCode>2780</OrphaCode>
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+      <Name lang="en">Osteopathia striata-cranial sclerosis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19079258[PMID]</SourceOfValidation>
+          <Gene id="17979">
+            <Name lang="en">APC membrane recruitment protein 1</Name>
+            <Symbol>AMER1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Adenomatous polyposis coli membrane recruitment 1</Synonym>
+              <Synonym lang="en">FLJ39827</Synonym>
+              <Synonym lang="en">RP11-403E24.2</Synonym>
+              <Synonym lang="en">WTX</Synonym>
+              <Synonym lang="en">Wilms Tumor on the X</Synonym>
+              <Synonym lang="en">adenomatous polyposis coli membrane recruitment 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58274">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184675</Reference>
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+              <ExternalReference id="99994">
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+              <ExternalReference id="40593">
+                <Source>HGNC</Source>
+                <Reference>26837</Reference>
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+                <Reference>300647</Reference>
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+              <ExternalReference id="58275">
+                <Source>Reactome</Source>
+                <Reference>Q5JTC6</Reference>
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+              <ExternalReference id="40595">
+                <Source>SwissProt</Source>
+                <Reference>Q5JTC6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>Xq11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="2530">
+      <OrphaCode>667</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=667</ExpertLink>
+      <Name lang="en">Autosomal recessive malignant osteopetrosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID]</SourceOfValidation>
+          <Gene id="15460">
+            <Name lang="en">chloride voltage-gated channel 7</Name>
+            <Symbol>CLCN7</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CLC-7</Synonym>
+              <Synonym lang="en">CLC7</Synonym>
+              <Synonym lang="en">ClC-7</Synonym>
+              <Synonym lang="en">OPTA2</Synonym>
+              <Synonym lang="en">PPP1R63</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 63</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="82820">
+                <Source>Reactome</Source>
+                <Reference>P51798</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51798</Reference>
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+              <ExternalReference id="57063">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103249</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2025</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID]</SourceOfValidation>
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+            <Name lang="en">T cell immune regulator 1, ATPase H+ transporting V0 subunit a3</Name>
+            <Symbol>TCIRG1</Symbol>
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+              <Synonym lang="en">ATP6N1C</Synonym>
+              <Synonym lang="en">ATP6V0A3</Synonym>
+              <Synonym lang="en">Atp6i</Synonym>
+              <Synonym lang="en">OC-116</Synonym>
+              <Synonym lang="en">OC116</Synonym>
+              <Synonym lang="en">T-cell immune response cDNA 7</Synonym>
+              <Synonym lang="en">TIRC7</Synonym>
+              <Synonym lang="en">V-ATPase subunit a3</Synonym>
+              <Synonym lang="en">a3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110719</Reference>
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+              <ExternalReference id="37373">
+                <Source>Genatlas</Source>
+                <Reference>TCIRG1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q13488</Reference>
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+              <ExternalReference id="32564">
+                <Source>SwissProt</Source>
+                <Reference>Q13488</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17632511[PMID]_23877423[PMID]</SourceOfValidation>
+          <Gene id="17256">
+            <Name lang="en">TNF superfamily member 11</Name>
+            <Symbol>TNFSF11</Symbol>
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+              <Synonym lang="en">CD254</Synonym>
+              <Synonym lang="en">ODF</Synonym>
+              <Synonym lang="en">OPGL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120659</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>22499339[PMID]_23877423[PMID]</SourceOfValidation>
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+            <Name lang="en">sorting nexin 10</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9Y5X0</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y5X0</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">KH domain containing 3 like, subcortical maternal complex member</Name>
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+      <Name lang="en">Papilloma of choroid plexus</Name>
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+            <Symbol>TP53</Symbol>
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+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="28353">
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+                <Reference>2528</Reference>
+              </ExternalReference>
+              <ExternalReference id="82873">
+                <Source>IUPHAR</Source>
+                <Reference>2344</Reference>
+              </ExternalReference>
+              <ExternalReference id="28352">
+                <Source>OMIM</Source>
+                <Reference>602365</Reference>
+              </ExternalReference>
+              <ExternalReference id="82872">
+                <Source>Reactome</Source>
+                <Reference>P53634</Reference>
+              </ExternalReference>
+              <ExternalReference id="32833">
+                <Source>SwissProt</Source>
+                <Reference>P53634</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8117">
+                <GeneLocus>11q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19766">
+      <OrphaCode>254704</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254704</ExpertLink>
+      <Name lang="en">Genetic hyperferritinemia without iron overload</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19176363[PMID]</SourceOfValidation>
+          <Gene id="16080">
+            <Name lang="en">ferritin light chain</Name>
+            <Symbol>FTL</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">L apoferritin</Synonym>
+              <Synonym lang="en">MGC71996</Synonym>
+              <Synonym lang="en">NBIA3</Synonym>
+              <Synonym lang="en">ferritin L subunit</Synonym>
+              <Synonym lang="en">ferritin L-chain</Synonym>
+              <Synonym lang="en">ferritin light polypeptide-like 3</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087086</Reference>
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+              <ExternalReference id="29610">
+                <Source>Genatlas</Source>
+                <Reference>FTL</Reference>
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+              <ExternalReference id="29608">
+                <Source>HGNC</Source>
+                <Reference>3999</Reference>
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+              <ExternalReference id="29607">
+                <Source>OMIM</Source>
+                <Reference>134790</Reference>
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+              <ExternalReference id="58057">
+                <Source>Reactome</Source>
+                <Reference>P02792</Reference>
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+              <ExternalReference id="33095">
+                <Source>SwissProt</Source>
+                <Reference>P02792</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19761">
+      <OrphaCode>254534</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254534</ExpertLink>
+      <Name lang="en">Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Delta1</Synonym>
+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59774">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
+              </ExternalReference>
+              <ExternalReference id="36967">
+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36969">
+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
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+              <ExternalReference id="36968">
+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
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+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
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+              <ExternalReference id="36970">
+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>14q32.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
+          <Gene id="17275">
+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTL2</Synonym>
+              <Synonym lang="en">LINC00023</Synonym>
+              <Synonym lang="en">NCRNA00023</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">onco-lncRNA-83</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="59776">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
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+              <ExternalReference id="36575">
+                <Source>Genatlas</Source>
+                <Reference>MEG3</Reference>
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+              <ExternalReference id="36574">
+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
+              </ExternalReference>
+              <ExternalReference id="36576">
+                <Source>OMIM</Source>
+                <Reference>605636</Reference>
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+            <LocusList count="1">
+              <Locus id="36471">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17276">
+            <Name lang="en">retrotransposon Gag like 1</Name>
+            <Symbol>RTL1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HUR1</Synonym>
+              <Synonym lang="en">MART1</Synonym>
+              <Synonym lang="en">Mar1</Synonym>
+              <Synonym lang="en">PEG11</Synonym>
+              <Synonym lang="en">SIRH2</Synonym>
+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
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+              <ExternalReference id="36579">
+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
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+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
+                <Reference>611896</Reference>
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+              <ExternalReference id="37575">
+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>14q32.2</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2545">
+      <OrphaCode>2802</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2802</ExpertLink>
+      <Name lang="en">X-linked sideroblastic anemia and spinocerebellar ataxia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301496[PMID]</SourceOfValidation>
+          <Gene id="15053">
+            <Name lang="en">ATP binding cassette subfamily B member 7</Name>
+            <Symbol>ABCB7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ASAT</Synonym>
+              <Synonym lang="en">Atm1p</Synonym>
+              <Synonym lang="en">EST140535</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193569">
+                <Source>IUPHAR</Source>
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+              <ExternalReference id="58284">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131269</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ABCB7</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O75027</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75027</Reference>
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+      <Name lang="en">Temple syndrome due to paternal 14q32.2 hypomethylation</Name>
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+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
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+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
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+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
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+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
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+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
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+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
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+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>254688</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=254688</ExpertLink>
+      <Name lang="en">Complete hydatidiform mole</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">NLR family pyrin domain containing 7</Name>
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+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8WX94</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167634</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21885028[PMID]_24533231[PMID]</SourceOfValidation>
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+            <Name lang="en">KH domain containing 3 like, subcortical maternal complex member</Name>
+            <Symbol>KHDC3L</Symbol>
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+              <Synonym lang="en">ES cell associated transcript 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000203908</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KHDC3L</Reference>
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+                <Reference>33699</Reference>
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+              <ExternalReference id="55155">
+                <Source>OMIM</Source>
+                <Reference>611687</Reference>
+              </ExternalReference>
+              <ExternalReference id="55156">
+                <Source>SwissProt</Source>
+                <Reference>Q587J8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18949">
+                <GeneLocus>6q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30388401[PMID]</SourceOfValidation>
+          <Gene id="27775">
+            <Name lang="en">meiotic double-stranded break formation protein 1</Name>
+            <Symbol>MEI1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MGC40042</Synonym>
+              <Synonym lang="en">SPATA38</Synonym>
+              <Synonym lang="en">spermatogenesis associated 38</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="161540">
+                <Source>HGNC</Source>
+                <Reference>28613</Reference>
+              </ExternalReference>
+              <ExternalReference id="161541">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167077</Reference>
+              </ExternalReference>
+              <ExternalReference id="161542">
+                <Source>SwissProt</Source>
+                <Reference>Q5TIA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="161543">
+                <Source>OMIM</Source>
+                <Reference>608797</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50255">
+                <GeneLocus>22q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30388401[PMID]</SourceOfValidation>
+          <Gene id="27776">
+            <Name lang="en">chromosome 11 open reading frame 80</Name>
+            <Symbol>C11ORF80</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22531</Synonym>
+              <Synonym lang="en">TOPOVIBL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="161545">
+                <Source>HGNC</Source>
+                <Reference>26197</Reference>
+              </ExternalReference>
+              <ExternalReference id="161546">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173715</Reference>
+              </ExternalReference>
+              <ExternalReference id="161547">
+                <Source>SwissProt</Source>
+                <Reference>Q8N6T0</Reference>
+              </ExternalReference>
+              <ExternalReference id="161548">
+                <Source>OMIM</Source>
+                <Reference>616109</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50265">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2307">
+      <OrphaCode>619</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Primary ovarian failure</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="22">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24269065[PMID]</SourceOfValidation>
+          <Gene id="24621">
+            <Name lang="en">inhibin subunit alpha</Name>
+            <Symbol>INHA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131438">
+                <Source>HGNC</Source>
+                <Reference>6065</Reference>
+              </ExternalReference>
+              <ExternalReference id="142972">
+                <Source>Genatlas</Source>
+                <Reference>INHA</Reference>
+              </ExternalReference>
+              <ExternalReference id="134353">
+                <Source>Reactome</Source>
+                <Reference>P05111</Reference>
+              </ExternalReference>
+              <ExternalReference id="132896">
+                <Source>SwissProt</Source>
+                <Reference>P05111</Reference>
+              </ExternalReference>
+              <ExternalReference id="133436">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123999</Reference>
+              </ExternalReference>
+              <ExternalReference id="132170">
+                <Source>OMIM</Source>
+                <Reference>147380</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="37663">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28175301[PMID]</SourceOfValidation>
+          <Gene id="24716">
+            <Name lang="en">mutS homolog 5</Name>
+            <Symbol>MSH5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">G7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="133667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204410</Reference>
+              </ExternalReference>
+              <ExternalReference id="134413">
+                <Source>Reactome</Source>
+                <Reference>O43196</Reference>
+              </ExternalReference>
+              <ExternalReference id="132264">
+                <Source>OMIM</Source>
+                <Reference>603382</Reference>
+              </ExternalReference>
+              <ExternalReference id="131533">
+                <Source>HGNC</Source>
+                <Reference>7328</Reference>
+              </ExternalReference>
+              <ExternalReference id="132989">
+                <Source>SwissProt</Source>
+                <Reference>O43196</Reference>
+              </ExternalReference>
+              <ExternalReference id="144231">
+                <Source>Genatlas</Source>
+                <Reference>MSH5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39903">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25246111[PMID]</SourceOfValidation>
+          <Gene id="24807">
+            <Name lang="en">progesterone receptor membrane component 1</Name>
+            <Symbol>PGRMC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HPR6.6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="133073">
+                <Source>SwissProt</Source>
+                <Reference>O00264</Reference>
+              </ExternalReference>
+              <ExternalReference id="134469">
+                <Source>Reactome</Source>
+                <Reference>O00264</Reference>
+              </ExternalReference>
+              <ExternalReference id="133815">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101856</Reference>
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+              <ExternalReference id="131624">
+                <Source>HGNC</Source>
+                <Reference>16090</Reference>
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+              <ExternalReference id="144153">
+                <Source>Genatlas</Source>
+                <Reference>PGRMC1</Reference>
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+              <ExternalReference id="132354">
+                <Source>OMIM</Source>
+                <Reference>300435</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq24</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18166824[PMID]</SourceOfValidation>
+          <Gene id="24482">
+            <Name lang="en">DNA meiotic recombinase 1</Name>
+            <Symbol>DMC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LIM15</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="134266">
+                <Source>Reactome</Source>
+                <Reference>Q14565</Reference>
+              </ExternalReference>
+              <ExternalReference id="144004">
+                <Source>Genatlas</Source>
+                <Reference>DMC1</Reference>
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+              <ExternalReference id="132757">
+                <Source>SwissProt</Source>
+                <Reference>Q14565</Reference>
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+              <ExternalReference id="132041">
+                <Source>OMIM</Source>
+                <Reference>602721</Reference>
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+              <ExternalReference id="133451">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100206</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2927</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16773570[PMID]</SourceOfValidation>
+          <Gene id="15117">
+            <Name lang="en">POF1B actin binding protein</Name>
+            <Symbol>POF1B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22792</Synonym>
+              <Synonym lang="en">POF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58214">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124429</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POF1B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13711</Reference>
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+              <ExternalReference id="24989">
+                <Source>OMIM</Source>
+                <Reference>300603</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WVV4</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21188402[PMID]_24157186[PMID]</SourceOfValidation>
+          <Gene id="16063">
+            <Name lang="en">fragile X messenger ribonucleoprotein 1</Name>
+            <Symbol>FMR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FMRP</Synonym>
+              <Synonym lang="en">FRAXA</Synonym>
+              <Synonym lang="en">MGC87458</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="56832">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102081</Reference>
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+              <ExternalReference id="29531">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3775</Reference>
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+                <Source>OMIM</Source>
+                <Reference>309550</Reference>
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+              <ExternalReference id="33078">
+                <Source>SwissProt</Source>
+                <Reference>Q06787</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq27.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9497258[PMID]</SourceOfValidation>
+          <Gene id="15865">
+            <Name lang="en">diaphanous related formin 2</Name>
+            <Symbol>DIAPH2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DIA</Synonym>
+              <Synonym lang="en">DIA2</Synonym>
+              <Synonym lang="en">POF</Synonym>
+              <Synonym lang="en">POF2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147202</Reference>
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+              <ExternalReference id="36959">
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+                <Source>HGNC</Source>
+                <Reference>2877</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300108</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60879</Reference>
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+                <GeneLocus>Xq21.33</GeneLocus>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21188402[PMID]</SourceOfValidation>
+          <Gene id="17198">
+            <Name lang="en">bone morphogenetic protein 15</Name>
+            <Symbol>BMP15</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GDF9B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142964">
+                <Source>Reactome</Source>
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+              <ExternalReference id="57910">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130385</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1068</Reference>
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+              <ExternalReference id="36266">
+                <Source>OMIM</Source>
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+              <ExternalReference id="36268">
+                <Source>SwissProt</Source>
+                <Reference>O95972</Reference>
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+                <GeneLocus>Xp11.22</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12149404[PMID]_19429596[PMID]_21188402[PMID]_20382564[PMID]_24157186[PMID]</SourceOfValidation>
+          <Gene id="16068">
+            <Name lang="en">forkhead box L2</Name>
+            <Symbol>FOXL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BPES1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57047">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183770</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FOXL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1092</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605597</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P58012</Reference>
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+              <ExternalReference id="143902">
+                <Source>Reactome</Source>
+                <Reference>P58012</Reference>
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+                <GeneLocus>3q22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21188402[PMID]_20382564[PMID]</SourceOfValidation>
+          <Gene id="16077">
+            <Name lang="en">follicle stimulating hormone receptor</Name>
+            <Symbol>FSHR</Symbol>
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+              <Synonym lang="en">FSHRO</Synonym>
+              <Synonym lang="en">LGR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57912">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170820</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3969</Reference>
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+              <ExternalReference id="82919">
+                <Source>IUPHAR</Source>
+                <Reference>253</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136435</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P23945</Reference>
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+              <ExternalReference id="33092">
+                <Source>SwissProt</Source>
+                <Reference>P23945</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21188402[PMID]_20382564[PMID]</SourceOfValidation>
+          <Gene id="16354">
+            <Name lang="en">luteinizing hormone/choriogonadotropin receptor</Name>
+            <Symbol>LHCGR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LCGR</Synonym>
+              <Synonym lang="en">LGR2</Synonym>
+              <Synonym lang="en">LHR</Synonym>
+              <Synonym lang="en">ULG5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138039</Reference>
+              </ExternalReference>
+              <ExternalReference id="30915">
+                <Source>Genatlas</Source>
+                <Reference>LHCGR</Reference>
+              </ExternalReference>
+              <ExternalReference id="30917">
+                <Source>HGNC</Source>
+                <Reference>6585</Reference>
+              </ExternalReference>
+              <ExternalReference id="82981">
+                <Source>IUPHAR</Source>
+                <Reference>254</Reference>
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+                <Source>OMIM</Source>
+                <Reference>152790</Reference>
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+              <ExternalReference id="57659">
+                <Source>Reactome</Source>
+                <Reference>P22888</Reference>
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+              <ExternalReference id="33419">
+                <Source>SwissProt</Source>
+                <Reference>P22888</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2p16.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21078366[PMID]_19246354[PMID]_24157186[PMID]</SourceOfValidation>
+          <Gene id="17744">
+            <Name lang="en">nuclear receptor subfamily 5 group A member 1</Name>
+            <Symbol>NR5A1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AD4BP</Synonym>
+              <Synonym lang="en">ELP</Synonym>
+              <Synonym lang="en">FTZ1</Synonym>
+              <Synonym lang="en">SF-1</Synonym>
+              <Synonym lang="en">SF1</Synonym>
+              <Synonym lang="en">hSF-1</Synonym>
+              <Synonym lang="en">steroidogenic factor 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136931</Reference>
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+              <ExternalReference id="39474">
+                <Source>Genatlas</Source>
+                <Reference>NR5A1</Reference>
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+              <ExternalReference id="39475">
+                <Source>HGNC</Source>
+                <Reference>7983</Reference>
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+              <ExternalReference id="83118">
+                <Source>IUPHAR</Source>
+                <Reference>632</Reference>
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+                <Source>OMIM</Source>
+                <Reference>184757</Reference>
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+              <ExternalReference id="57916">
+                <Source>Reactome</Source>
+                <Reference>Q13285</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13285</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17701902[PMID]_21837770[PMID]_24157186[PMID]</SourceOfValidation>
+          <Gene id="18108">
+            <Name lang="en">NOBOX oogenesis homeobox</Name>
+            <Symbol>NOBOX</Symbol>
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+              <Synonym lang="en">OG2</Synonym>
+              <Synonym lang="en">Og2x</Synonym>
+              <Synonym lang="en">newborn ovary homeobox-encoding gene</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106410</Reference>
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+              <ExternalReference id="41218">
+                <Source>Genatlas</Source>
+                <Reference>NOBOX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>22448</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18499083[PMID]</SourceOfValidation>
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+            <Name lang="en">folliculogenesis specific bHLH transcription factor</Name>
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+              <Synonym lang="en">Factor in the germline alpha</Synonym>
+              <Synonym lang="en">Figalpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183733</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q6QHK4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23902945[PMID]</SourceOfValidation>
+          <Gene id="22415">
+            <Name lang="en">eukaryotic translation initiation factor 4E nuclear import factor 1</Name>
+            <Symbol>EIF4ENIF1</Symbol>
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+              <Synonym lang="en">2610509L04Rik</Synonym>
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+              <Synonym lang="en">4E-transporter</Synonym>
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+              <Synonym lang="en">FLJ21601</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184708</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EIF4ENIF1</Reference>
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+                <Source>OMIM</Source>
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+                <Reference>Q9NRA8</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NRA8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164404</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Not yet assessed</Name>
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+          <Gene id="22810">
+            <Name lang="en">stromal antigen 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ERCC excision repair 6, chromatin remodeling factor</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">spermatogenesis and oogenesis specific basic helix-loop-helix 2</Name>
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+                <Source>Ensembl</Source>
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+      <OrphaCode>2498</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2498</ExpertLink>
+      <Name lang="en">Syndactyly type 8</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="22387">
+            <Name lang="en">fibroblast growth factor 16</Name>
+            <Symbol>FGF16</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O43320</Reference>
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+                <Reference>ENSG00000196468</Reference>
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+      <Name lang="en">Metachondromatosis</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>PTPN11</Symbol>
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+              <Synonym lang="en">PTP2C</Synonym>
+              <Synonym lang="en">SH-PTP2</Synonym>
+              <Synonym lang="en">SH2 domain-containing protein tyrosine phosphatase 2</Synonym>
+              <Synonym lang="en">SHP-2</Synonym>
+              <Synonym lang="en">SHP2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2201</Reference>
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+      <Name lang="en">Metaphyseal chondrodysplasia, Spahr type</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24239381[PMID]</SourceOfValidation>
+          <Gene id="22575">
+            <Name lang="en">TBC1 domain family member 20</Name>
+            <Symbol>TBC1D20</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">dJ852M4.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125875</Reference>
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+              <ExternalReference id="84489">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D20</Reference>
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+              <ExternalReference id="84487">
+                <Source>HGNC</Source>
+                <Reference>16133</Reference>
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+              <ExternalReference id="84488">
+                <Source>OMIM</Source>
+                <Reference>611663</Reference>
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+              <ExternalReference id="84490">
+                <Source>SwissProt</Source>
+                <Reference>Q96BZ9</Reference>
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+              <ExternalReference id="100351">
+                <Source>Reactome</Source>
+                <Reference>Q96BZ9</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19277">
+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2320">
+      <OrphaCode>2508</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2508</ExpertLink>
+      <Name lang="en">Corpus callosum agenesis-abnormal genitalia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14722918[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="32966">
+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
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+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
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+              <ExternalReference id="28975">
+                <Source>Genatlas</Source>
+                <Reference>ARX</Reference>
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+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
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+              <ExternalReference id="28972">
+                <Source>OMIM</Source>
+                <Reference>300382</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2325">
+      <OrphaCode>2514</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2514</ExpertLink>
+      <Name lang="en">Autosomal dominant primary microcephaly</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>23832105[PMID]</SourceOfValidation>
+          <Gene id="19219">
+            <Name lang="en">dipeptidyl peptidase like 6</Name>
+            <Symbol>DPP6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DPL1</Synonym>
+              <Synonym lang="en">DPPX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60368">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130226</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DPP6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3010</Reference>
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+              <ExternalReference id="46353">
+                <Source>OMIM</Source>
+                <Reference>126141</Reference>
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+              <ExternalReference id="46354">
+                <Source>SwissProt</Source>
+                <Reference>P42658</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32910914[PMID]</SourceOfValidation>
+          <Gene id="16365">
+            <Name lang="en">lamin B1</Name>
+            <Symbol>LMNB1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59900">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113368</Reference>
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+              <ExternalReference id="30966">
+                <Source>Genatlas</Source>
+                <Reference>LMNB1</Reference>
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+              <ExternalReference id="30968">
+                <Source>HGNC</Source>
+                <Reference>6637</Reference>
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+                <Source>OMIM</Source>
+                <Reference>150340</Reference>
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+              <ExternalReference id="59901">
+                <Source>Reactome</Source>
+                <Reference>P20700</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P20700</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2329">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2518</ExpertLink>
+      <Name lang="en">Autosomal recessive chorioretinopathy-microcephaly syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27650967[PMID]</SourceOfValidation>
+          <Gene id="23133">
+            <Name lang="en">polo like kinase 4</Name>
+            <Symbol>PLK4</Symbol>
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+              <Synonym lang="en">Sak</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142731</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O00444</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22279524[PMID]</SourceOfValidation>
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+              <Synonym lang="en">Gamma-tubulin complex component 6</Synonym>
+              <Synonym lang="en">KIAA1669</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83418">
+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96RT7</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137822</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>20920667[PMID]</SourceOfValidation>
+          <Gene id="19617">
+            <Name lang="en">Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase</Name>
+            <Symbol>SEPSECS</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">O-phosphoseryl-tRNA(Sec) selenium transferase</Synonym>
+              <Synonym lang="en">SLA</Synonym>
+              <Synonym lang="en">SLA/LP</Synonym>
+              <Synonym lang="en">soluble liver antigen/liver pancreas antigen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58219">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109618</Reference>
+              </ExternalReference>
+              <ExternalReference id="50212">
+                <Source>Genatlas</Source>
+                <Reference>SEPSECS</Reference>
+              </ExternalReference>
+              <ExternalReference id="50213">
+                <Source>HGNC</Source>
+                <Reference>30605</Reference>
+              </ExternalReference>
+              <ExternalReference id="50215">
+                <Source>OMIM</Source>
+                <Reference>613009</Reference>
+              </ExternalReference>
+              <ExternalReference id="98088">
+                <Source>Reactome</Source>
+                <Reference>Q9HD40</Reference>
+              </ExternalReference>
+              <ExternalReference id="50216">
+                <Source>SwissProt</Source>
+                <Reference>Q9HD40</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17787">
+                <GeneLocus>4p15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2336">
+      <OrphaCode>2526</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2526</ExpertLink>
+      <Name lang="en">Microcephaly-lymphedema-chorioretinopathy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22284827[PMID]</SourceOfValidation>
+          <Gene id="20816">
+            <Name lang="en">kinesin family member 11</Name>
+            <Symbol>KIF11</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Eg5</Synonym>
+              <Synonym lang="en">HKSP</Synonym>
+              <Synonym lang="en">TRIP5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83268">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138160</Reference>
+              </ExternalReference>
+              <ExternalReference id="61054">
+                <Source>Genatlas</Source>
+                <Reference>KIF11</Reference>
+              </ExternalReference>
+              <ExternalReference id="61052">
+                <Source>HGNC</Source>
+                <Reference>6388</Reference>
+              </ExternalReference>
+              <ExternalReference id="61053">
+                <Source>OMIM</Source>
+                <Reference>148760</Reference>
+              </ExternalReference>
+              <ExternalReference id="83267">
+                <Source>Reactome</Source>
+                <Reference>P52732</Reference>
+              </ExternalReference>
+              <ExternalReference id="61055">
+                <Source>SwissProt</Source>
+                <Reference>P52732</Reference>
+              </ExternalReference>
+              <ExternalReference id="190536">
+                <Source>IUPHAR</Source>
+                <Reference>2788</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60481">
+                <GeneLocus>10q23.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2357">
+      <OrphaCode>2554</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2554</ExpertLink>
+      <Name lang="en">Ear-patella-short stature syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23516378[PMID]_21358632[PMID]</SourceOfValidation>
+          <Gene id="19834">
+            <Name lang="en">origin recognition complex subunit 4</Name>
+            <Symbol>ORC4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HsORC4</Synonym>
+              <Synonym lang="en">Orc4p</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58233">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115947</Reference>
+              </ExternalReference>
+              <ExternalReference id="50783">
+                <Source>Genatlas</Source>
+                <Reference>ORC4</Reference>
+              </ExternalReference>
+              <ExternalReference id="50781">
+                <Source>HGNC</Source>
+                <Reference>8490</Reference>
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+              <ExternalReference id="50782">
+                <Source>OMIM</Source>
+                <Reference>603056</Reference>
+              </ExternalReference>
+              <ExternalReference id="58234">
+                <Source>Reactome</Source>
+                <Reference>O43929</Reference>
+              </ExternalReference>
+              <ExternalReference id="50784">
+                <Source>SwissProt</Source>
+                <Reference>O43929</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21743">
+                <GeneLocus>2q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23516378[PMID]_21358632[PMID]</SourceOfValidation>
+          <Gene id="19835">
+            <Name lang="en">origin recognition complex subunit 6</Name>
+            <Symbol>ORC6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091651</Reference>
+              </ExternalReference>
+              <ExternalReference id="50788">
+                <Source>Genatlas</Source>
+                <Reference>ORC6</Reference>
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+              <ExternalReference id="50786">
+                <Source>HGNC</Source>
+                <Reference>17151</Reference>
+              </ExternalReference>
+              <ExternalReference id="50787">
+                <Source>OMIM</Source>
+                <Reference>607213</Reference>
+              </ExternalReference>
+              <ExternalReference id="58236">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5N6</Reference>
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+              <ExternalReference id="50789">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5N6</Reference>
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+            <LocusList count="1">
+              <Locus id="23373">
+                <GeneLocus>16q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23516378[PMID]_21358632[PMID]</SourceOfValidation>
+          <Gene id="19836">
+            <Name lang="en">chromatin licensing and DNA replication factor 1</Name>
+            <Symbol>CDT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DUP</Synonym>
+              <Synonym lang="en">RIS2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58229">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167513</Reference>
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+              <ExternalReference id="50793">
+                <Source>Genatlas</Source>
+                <Reference>CDT1</Reference>
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+              <ExternalReference id="50791">
+                <Source>HGNC</Source>
+                <Reference>24576</Reference>
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+              <ExternalReference id="50792">
+                <Source>OMIM</Source>
+                <Reference>605525</Reference>
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+              <ExternalReference id="58230">
+                <Source>Reactome</Source>
+                <Reference>Q9H211</Reference>
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+              <ExternalReference id="50794">
+                <Source>SwissProt</Source>
+                <Reference>Q9H211</Reference>
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+              <Locus id="11367">
+                <GeneLocus>16q24.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23516378[PMID]_21358632[PMID]</SourceOfValidation>
+          <Gene id="19837">
+            <Name lang="en">cell division cycle 6</Name>
+            <Symbol>CDC6</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58228">
+                <Source>Reactome</Source>
+                <Reference>Q99741</Reference>
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+              <ExternalReference id="50799">
+                <Source>SwissProt</Source>
+                <Reference>Q99741</Reference>
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+              <ExternalReference id="58227">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000094804</Reference>
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+              <ExternalReference id="50798">
+                <Source>Genatlas</Source>
+                <Reference>CDC6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1744</Reference>
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+              <Locus id="25243">
+                <GeneLocus>17q21.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23516378[PMID]_21358632[PMID]</SourceOfValidation>
+          <Gene id="19843">
+            <Name lang="en">origin recognition complex subunit 1</Name>
+            <Symbol>ORC1</Symbol>
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+              <Synonym lang="en">HSORC1</Synonym>
+              <Synonym lang="en">PARC1</Synonym>
+              <Synonym lang="en">origin recognition complex 1</Synonym>
+              <Synonym lang="en">origin recognition complex, subunit 1, S. cerevisiae, homolog-like</Synonym>
+              <Synonym lang="en">replication control protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085840</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ORC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8487</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26637980[PMID]</SourceOfValidation>
+          <Gene id="23638">
+            <Name lang="en">geminin DNA replication inhibitor</Name>
+            <Symbol>GMNN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Gem</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98801">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112312</Reference>
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+              <ExternalReference id="98798">
+                <Source>Genatlas</Source>
+                <Reference>GMNN</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="98800">
+                <Source>Reactome</Source>
+                <Reference>O75496</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75496</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27374770[PMID]</SourceOfValidation>
+          <Gene id="23944">
+            <Name lang="en">cell division cycle 45</Name>
+            <Symbol>CDC45</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">human CDC45</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>CDC45</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75419</Reference>
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+              <ExternalReference id="104198">
+                <Source>Reactome</Source>
+                <Reference>O75419</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000093009</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="2359">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2556</ExpertLink>
+      <Name lang="en">Microphthalmia with linear skin defects syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>17033964[PMID]</SourceOfValidation>
+          <Gene id="16187">
+            <Name lang="en">holocytochrome c synthase</Name>
+            <Symbol>HCCS</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">cytochrome c heme-lyase</Synonym>
+              <Synonym lang="en">holocytochrome-c synthetase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58237">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004961</Reference>
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+                <Reference>4837</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">cytochrome c oxidase subunit 7B</Name>
+            <Symbol>COX7B</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131174</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25772934[PMID]</SourceOfValidation>
+          <Gene id="23222">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit B11</Name>
+            <Symbol>NDUFB11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ESSS</Synonym>
+              <Synonym lang="en">NP17.3</Synonym>
+              <Synonym lang="en">Np15</Synonym>
+              <Synonym lang="en">complex I NP17.3 subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000147123</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NDUFB11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20372</Reference>
+              </ExternalReference>
+              <ExternalReference id="95608">
+                <Source>OMIM</Source>
+                <Reference>300403</Reference>
+              </ExternalReference>
+              <ExternalReference id="95611">
+                <Source>Reactome</Source>
+                <Reference>Q9NX14</Reference>
+              </ExternalReference>
+              <ExternalReference id="95610">
+                <Source>SwissProt</Source>
+                <Reference>Q9NX14</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15155">
+                <GeneLocus>Xp11.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2375">
+      <OrphaCode>575</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=575</ExpertLink>
+      <Name lang="en">Muckle-Wells syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11687797[PMID]</SourceOfValidation>
+          <Gene id="16553">
+            <Name lang="en">NLR family pyrin domain containing 3</Name>
+            <Symbol>NLRP3</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">AGTAVPRL</Synonym>
+              <Synonym lang="en">AII</Synonym>
+              <Synonym lang="en">AVP</Synonym>
+              <Synonym lang="en">CLR1.1</Synonym>
+              <Synonym lang="en">Cryopyrin</Synonym>
+              <Synonym lang="en">FCAS</Synonym>
+              <Synonym lang="en">FCU</Synonym>
+              <Synonym lang="en">MWS</Synonym>
+              <Synonym lang="en">NALP3</Synonym>
+              <Synonym lang="en">PYPAF1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162711</Reference>
+              </ExternalReference>
+              <ExternalReference id="36623">
+                <Source>Genatlas</Source>
+                <Reference>NLRP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31839">
+                <Source>HGNC</Source>
+                <Reference>16400</Reference>
+              </ExternalReference>
+              <ExternalReference id="31838">
+                <Source>OMIM</Source>
+                <Reference>606416</Reference>
+              </ExternalReference>
+              <ExternalReference id="58243">
+                <Source>Reactome</Source>
+                <Reference>Q96P20</Reference>
+              </ExternalReference>
+              <ExternalReference id="33618">
+                <Source>SwissProt</Source>
+                <Reference>Q96P20</Reference>
+              </ExternalReference>
+              <ExternalReference id="190378">
+                <Source>IUPHAR</Source>
+                <Reference>1770</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60165">
+                <GeneLocus>1q44</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2373">
+      <OrphaCode>2573</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2573</ExpertLink>
+      <Name lang="en">Moyamoya disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34125151[PMID]</SourceOfValidation>
+          <Gene id="15864">
+            <Name lang="en">diaphanous related formin 1</Name>
+            <Symbol>DIAPH1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LFHL1</Synonym>
+              <Synonym lang="en">hDIA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59570">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131504</Reference>
+              </ExternalReference>
+              <ExternalReference id="28555">
+                <Source>Genatlas</Source>
+                <Reference>DIAPH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28553">
+                <Source>HGNC</Source>
+                <Reference>2876</Reference>
+              </ExternalReference>
+              <ExternalReference id="28552">
+                <Source>OMIM</Source>
+                <Reference>602121</Reference>
+              </ExternalReference>
+              <ExternalReference id="97203">
+                <Source>Reactome</Source>
+                <Reference>O60610</Reference>
+              </ExternalReference>
+              <ExternalReference id="32875">
+                <Source>SwissProt</Source>
+                <Reference>O60610</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q31.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19409525[PMID]_20970362[PMID]</SourceOfValidation>
+          <Gene id="16835">
+            <Name lang="en">actin alpha 2, smooth muscle</Name>
+            <Symbol>ACTA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ACTSA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58238">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107796</Reference>
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+              <ExternalReference id="35180">
+                <Source>Genatlas</Source>
+                <Reference>ACTA2</Reference>
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+              <ExternalReference id="35183">
+                <Source>HGNC</Source>
+                <Reference>130</Reference>
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+              <ExternalReference id="35181">
+                <Source>OMIM</Source>
+                <Reference>102620</Reference>
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+              <ExternalReference id="58239">
+                <Source>Reactome</Source>
+                <Reference>P62736</Reference>
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+              <ExternalReference id="35182">
+                <Source>SwissProt</Source>
+                <Reference>P62736</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>10q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21048783[PMID]_21799892[PMID]_22377813[PMID]</SourceOfValidation>
+          <Gene id="19846">
+            <Name lang="en">ring finger protein 213</Name>
+            <Symbol>RNF213</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ALK lymphoma oligomerization partner on chromosome 17</Synonym>
+              <Synonym lang="en">ALO17</Synonym>
+              <Synonym lang="en">KIAA1554</Synonym>
+              <Synonym lang="en">NET57</Synonym>
+              <Synonym lang="en">mysterin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100329">
+                <Source>Reactome</Source>
+                <Reference>Q63HN8</Reference>
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+              <ExternalReference id="58241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173821</Reference>
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+              <ExternalReference id="50867">
+                <Source>Genatlas</Source>
+                <Reference>RNF213</Reference>
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+              <ExternalReference id="50865">
+                <Source>HGNC</Source>
+                <Reference>14539</Reference>
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+              <ExternalReference id="50869">
+                <Source>OMIM</Source>
+                <Reference>613768</Reference>
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+              <ExternalReference id="50868">
+                <Source>SwissProt</Source>
+                <Reference>Q63HN8</Reference>
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+                <GeneLocus>17q25.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2370">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2570</ExpertLink>
+      <Name lang="en">Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28612833[PMID]</SourceOfValidation>
+          <Gene id="27522">
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+            <Symbol>GPKOW</Symbol>
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+              <Synonym lang="en">GPATC5</Synonym>
+              <Synonym lang="en">GPATCH5</Synonym>
+              <Synonym lang="en">Mos2</Synonym>
+              <Synonym lang="en">Spp2</Synonym>
+              <Synonym lang="en">T54</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="160243">
+                <Source>HGNC</Source>
+                <Reference>30677</Reference>
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+              <ExternalReference id="160244">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068394</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92917</Reference>
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+              <ExternalReference id="160246">
+                <Source>Reactome</Source>
+                <Reference>Q92917</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NIPA magnesium transporter 1</Name>
+            <Symbol>NIPA1</Symbol>
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+              <Synonym lang="en">MGC35570</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59993">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170113</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>17043</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q7RTP0</Reference>
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+              <ExternalReference id="33612">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTP0</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25689425[PMID]</SourceOfValidation>
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+            <Name lang="en">NIPA magnesium transporter 2</Name>
+            <Symbol>NIPA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SLC57A2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>3034</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N8Q9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17044</Reference>
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+                <Reference>608146</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140157</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N8Q9</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>25689425[PMID]</SourceOfValidation>
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+            <Name lang="en">tubulin gamma 1</Name>
+            <Symbol>TUBG1</Symbol>
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+              <Synonym lang="en">TUBGCP1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131462</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Ataxia-pancytopenia syndrome</Name>
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+            <Name lang="en">sterile alpha motif domain containing 9 like</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>611170</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IVG5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177409</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">FOXG1 syndrome due to 14q12 microdeletion</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>FOXG1</Symbol>
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+              <Synonym lang="en">HBF-3</Synonym>
+              <Synonym lang="en">HFK1</Synonym>
+              <Synonym lang="en">HFK2</Synonym>
+              <Synonym lang="en">HFK3</Synonym>
+              <Synonym lang="en">QIN</Synonym>
+              <Synonym lang="en">brain factor 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176165</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FOXG1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3811</Reference>
+              </ExternalReference>
+              <ExternalReference id="39090">
+                <Source>OMIM</Source>
+                <Reference>164874</Reference>
+              </ExternalReference>
+              <ExternalReference id="39091">
+                <Source>SwissProt</Source>
+                <Reference>P55316</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>14q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2376">
+      <OrphaCode>2576</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2576</ExpertLink>
+      <Name lang="en">Mulibrey nanism</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19347900[PMID]</SourceOfValidation>
+          <Gene id="15663">
+            <Name lang="en">tripartite motif containing 37</Name>
+            <Symbol>TRIM37</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0898</Synonym>
+              <Synonym lang="en">POB1</Synonym>
+              <Synonym lang="en">RING-B-box-coiled-coil protein</Synonym>
+              <Synonym lang="en">TEF3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58244">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108395</Reference>
+              </ExternalReference>
+              <ExternalReference id="27606">
+                <Source>Genatlas</Source>
+                <Reference>TRIM37</Reference>
+              </ExternalReference>
+              <ExternalReference id="27604">
+                <Source>HGNC</Source>
+                <Reference>7523</Reference>
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+              <ExternalReference id="27603">
+                <Source>OMIM</Source>
+                <Reference>605073</Reference>
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+              <ExternalReference id="58245">
+                <Source>Reactome</Source>
+                <Reference>O94972</Reference>
+              </ExternalReference>
+              <ExternalReference id="32635">
+                <Source>SwissProt</Source>
+                <Reference>O94972</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19860">
+      <OrphaCode>261222</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261222</ExpertLink>
+      <Name lang="en">Distal 16p11.2 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20852">
+            <Name lang="en">SH2B adaptor protein 1</Name>
+            <Symbol>SH2B1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ30542</Synonym>
+              <Synonym lang="en">SH2-B homolog</Synonym>
+              <Synonym lang="en">SH2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="61257">
+                <Source>HGNC</Source>
+                <Reference>30417</Reference>
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+              <ExternalReference id="61258">
+                <Source>OMIM</Source>
+                <Reference>608937</Reference>
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+              <ExternalReference id="83308">
+                <Source>Reactome</Source>
+                <Reference>Q9NRF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="61260">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRF2</Reference>
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+              <ExternalReference id="83309">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178188</Reference>
+              </ExternalReference>
+              <ExternalReference id="61259">
+                <Source>Genatlas</Source>
+                <Reference>SH2B1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2389">
+      <OrphaCode>1359</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1359</ExpertLink>
+      <Name lang="en">Carney complex</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
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+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit alpha</Name>
+            <Symbol>PRKAR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNC1</Synonym>
+              <Synonym lang="en">Carney complex type 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58248">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108946</Reference>
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+              <ExternalReference id="25095">
+                <Source>Genatlas</Source>
+                <Reference>PRKAR1A</Reference>
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+              <ExternalReference id="25097">
+                <Source>HGNC</Source>
+                <Reference>9388</Reference>
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+              <ExternalReference id="82746">
+                <Source>IUPHAR</Source>
+                <Reference>1472</Reference>
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+                <Source>OMIM</Source>
+                <Reference>188830</Reference>
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+              <ExternalReference id="58249">
+                <Source>Reactome</Source>
+                <Reference>P10644</Reference>
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+              <ExternalReference id="33250">
+                <Source>SwissProt</Source>
+                <Reference>P10644</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21047926[PMID]</SourceOfValidation>
+          <Gene id="17881">
+            <Name lang="en">phosphodiesterase 11A</Name>
+            <Symbol>PDE11A</Symbol>
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+              <Synonym lang="en">Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60275">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128655</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PDE11A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8773</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60276">
+                <Source>Reactome</Source>
+                <Reference>Q9HCR9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HCR9</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1311</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Tubular aggregate myopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ORAI calcium release-activated calcium modulator 1</Name>
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+              <Synonym lang="en">CRACM1</Synonym>
+              <Synonym lang="en">FLJ14466</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95176">
+                <Source>Ensembl</Source>
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+                <Reference>25896</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96D31</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96D31</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q13586</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13586</Reference>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>28895244[PMID]_29039140[PMID]</SourceOfValidation>
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+            <Name lang="en">calsequestrin 1</Name>
+            <Symbol>CASQ1</Symbol>
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+              <Synonym lang="en">calsequestrin 1, fast-twitch, skeletal muscle</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="22965">
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+            <Symbol>MEIS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HsT18361</Synonym>
+              <Synonym lang="en">MRG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91678">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134138</Reference>
+              </ExternalReference>
+              <ExternalReference id="91538">
+                <Source>Genatlas</Source>
+                <Reference>MEIS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="91536">
+                <Source>HGNC</Source>
+                <Reference>7001</Reference>
+              </ExternalReference>
+              <ExternalReference id="91537">
+                <Source>OMIM</Source>
+                <Reference>601740</Reference>
+              </ExternalReference>
+              <ExternalReference id="91539">
+                <Source>SwissProt</Source>
+                <Reference>O14770</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13283">
+                <GeneLocus>15q14</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2385">
+      <OrphaCode>2588</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2588</ExpertLink>
+      <Name lang="en">Myhre syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22243968[PMID]_22158539[PMID]_24398790[PMID]_24715504[PMID]_24580733[PMID]</SourceOfValidation>
+          <Gene id="15524">
+            <Name lang="en">SMAD family member 4</Name>
+            <Symbol>SMAD4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DPC4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141646</Reference>
+              </ExternalReference>
+              <ExternalReference id="26942">
+                <Source>Genatlas</Source>
+                <Reference>SMAD4</Reference>
+              </ExternalReference>
+              <ExternalReference id="26944">
+                <Source>HGNC</Source>
+                <Reference>6770</Reference>
+              </ExternalReference>
+              <ExternalReference id="26943">
+                <Source>OMIM</Source>
+                <Reference>600993</Reference>
+              </ExternalReference>
+              <ExternalReference id="57043">
+                <Source>Reactome</Source>
+                <Reference>Q13485</Reference>
+              </ExternalReference>
+              <ExternalReference id="32495">
+                <Source>SwissProt</Source>
+                <Reference>Q13485</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21537">
+                <GeneLocus>18q21.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19857">
+      <OrphaCode>261197</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261197</ExpertLink>
+      <Name lang="en">Proximal 16p11.2 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20852">
+            <Name lang="en">SH2B adaptor protein 1</Name>
+            <Symbol>SH2B1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ30542</Synonym>
+              <Synonym lang="en">SH2-B homolog</Synonym>
+              <Synonym lang="en">SH2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="61257">
+                <Source>HGNC</Source>
+                <Reference>30417</Reference>
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+              <ExternalReference id="61258">
+                <Source>OMIM</Source>
+                <Reference>608937</Reference>
+              </ExternalReference>
+              <ExternalReference id="83308">
+                <Source>Reactome</Source>
+                <Reference>Q9NRF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="61260">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="83309">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178188</Reference>
+              </ExternalReference>
+              <ExternalReference id="61259">
+                <Source>Genatlas</Source>
+                <Reference>SH2B1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11883">
+                <GeneLocus>16p11.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19870">
+      <OrphaCode>261295</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261295</ExpertLink>
+      <Name lang="en">20p12.3 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18812404[PMID]_21671386[PMID]</SourceOfValidation>
+          <Gene id="18080">
+            <Name lang="en">bone morphogenetic protein 2</Name>
+            <Symbol>BMP2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125845</Reference>
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+              <ExternalReference id="41081">
+                <Source>Genatlas</Source>
+                <Reference>BMP2</Reference>
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+              <ExternalReference id="41082">
+                <Source>HGNC</Source>
+                <Reference>1069</Reference>
+              </ExternalReference>
+              <ExternalReference id="41083">
+                <Source>OMIM</Source>
+                <Reference>112261</Reference>
+              </ExternalReference>
+              <ExternalReference id="57878">
+                <Source>Reactome</Source>
+                <Reference>P12643</Reference>
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+              <ExternalReference id="41084">
+                <Source>SwissProt</Source>
+                <Reference>P12643</Reference>
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+            <LocusList count="1">
+              <Locus id="22135">
+                <GeneLocus>20p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19868">
+      <OrphaCode>261279</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261279</ExpertLink>
+      <Name lang="en">17q23.1q23.2 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21271665[PMID]</SourceOfValidation>
+          <Gene id="15588">
+            <Name lang="en">T-box transcription factor 4</Name>
+            <Symbol>TBX4</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121075</Reference>
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+              <ExternalReference id="27247">
+                <Source>Genatlas</Source>
+                <Reference>TBX4</Reference>
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+              <ExternalReference id="27249">
+                <Source>HGNC</Source>
+                <Reference>11603</Reference>
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+              <ExternalReference id="27248">
+                <Source>OMIM</Source>
+                <Reference>601719</Reference>
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+              <ExternalReference id="32559">
+                <Source>SwissProt</Source>
+                <Reference>P57082</Reference>
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+            <LocusList count="1">
+              <Locus id="18625">
+                <GeneLocus>17q23.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19866">
+      <OrphaCode>261265</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261265</ExpertLink>
+      <Name lang="en">17q12 microdeletion syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
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+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
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+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
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+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
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+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="21575">
+            <Name lang="en">LIM homeobox 1</Name>
+            <Symbol>LHX1</Symbol>
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+              <Synonym lang="en">LIM-1</Synonym>
+              <Synonym lang="en">LIM1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000273706</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>6593</Reference>
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+                <Reference>601999</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48742</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2616</ExpertLink>
+      <Name lang="en">3M syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>20301654[PMID]</SourceOfValidation>
+          <Gene id="15826">
+            <Name lang="en">cullin 7</Name>
+            <Symbol>CUL7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">dJ20C7.5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58250">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000044090</Reference>
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+              <ExternalReference id="28373">
+                <Source>Genatlas</Source>
+                <Reference>CUL7</Reference>
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+              <ExternalReference id="28371">
+                <Source>HGNC</Source>
+                <Reference>21024</Reference>
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+              <ExternalReference id="28370">
+                <Source>OMIM</Source>
+                <Reference>609577</Reference>
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+              <ExternalReference id="58251">
+                <Source>Reactome</Source>
+                <Reference>Q14999</Reference>
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+              <ExternalReference id="32837">
+                <Source>SwissProt</Source>
+                <Reference>Q14999</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301654[PMID]</SourceOfValidation>
+          <Gene id="18463">
+            <Name lang="en">obscurin like cytoskeletal adaptor 1</Name>
+            <Symbol>OBSL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0657</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143560">
+                <Source>Reactome</Source>
+                <Reference>O75147</Reference>
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+              <ExternalReference id="58252">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124006</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>OBSL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29092</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610991</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75147</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301654[PMID]_21737058[PMID]</SourceOfValidation>
+          <Gene id="20298">
+            <Name lang="en">coiled-coil domain containing 8</Name>
+            <Symbol>CCDC8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">3M3</Synonym>
+              <Synonym lang="en">DKFZp564K0322</Synonym>
+              <Synonym lang="en">PPP1R20</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 20</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58253">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169515</Reference>
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+              <ExternalReference id="52311">
+                <Source>Genatlas</Source>
+                <Reference>CCDC8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25367</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614145</Reference>
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+              <ExternalReference id="52312">
+                <Source>SwissProt</Source>
+                <Reference>Q9H0W5</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H0W5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19864">
+      <OrphaCode>261250</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261250</ExpertLink>
+      <Name lang="en">16q24.3 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="20309">
+            <Name lang="en">ankyrin repeat domain containing 11</Name>
+            <Symbol>ANKRD11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LZ16</Synonym>
+              <Synonym lang="en">T13</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58186">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167522</Reference>
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+              <ExternalReference id="53025">
+                <Source>Genatlas</Source>
+                <Reference>ANKRD11</Reference>
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+              <ExternalReference id="53023">
+                <Source>HGNC</Source>
+                <Reference>21316</Reference>
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+              <ExternalReference id="53024">
+                <Source>OMIM</Source>
+                <Reference>611192</Reference>
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+              <ExternalReference id="53026">
+                <Source>SwissProt</Source>
+                <Reference>Q6UB99</Reference>
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+            <LocusList count="1">
+              <Locus id="11543">
+                <GeneLocus>16q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2392">
+      <OrphaCode>2613</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2613</ExpertLink>
+      <Name lang="en">Nail-patella-like renal disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25713721[PMID]_24042019[PMID]</SourceOfValidation>
+          <Gene id="16367">
+            <Name lang="en">LIM homeobox transcription factor 1 beta</Name>
+            <Symbol>LMX1B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57228">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136944</Reference>
+              </ExternalReference>
+              <ExternalReference id="37512">
+                <Source>Genatlas</Source>
+                <Reference>LMX1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="30977">
+                <Source>HGNC</Source>
+                <Reference>6654</Reference>
+              </ExternalReference>
+              <ExternalReference id="30976">
+                <Source>OMIM</Source>
+                <Reference>602575</Reference>
+              </ExternalReference>
+              <ExternalReference id="33432">
+                <Source>SwissProt</Source>
+                <Reference>O60663</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9145">
+                <GeneLocus>9q33.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19865">
+      <OrphaCode>261257</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261257</ExpertLink>
+      <Name lang="en">Distal 17p13.3 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20599530[PMID]</SourceOfValidation>
+          <Gene id="20276">
+            <Name lang="en">tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon</Name>
+            <Symbol>YWHAE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">14-3-3 epsilon</Synonym>
+              <Synonym lang="en">FLJ45465</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108953</Reference>
+              </ExternalReference>
+              <ExternalReference id="52130">
+                <Source>Genatlas</Source>
+                <Reference>YWHAE</Reference>
+              </ExternalReference>
+              <ExternalReference id="52128">
+                <Source>HGNC</Source>
+                <Reference>12851</Reference>
+              </ExternalReference>
+              <ExternalReference id="52129">
+                <Source>OMIM</Source>
+                <Reference>605066</Reference>
+              </ExternalReference>
+              <ExternalReference id="60341">
+                <Source>Reactome</Source>
+                <Reference>P62258</Reference>
+              </ExternalReference>
+              <ExternalReference id="52131">
+                <Source>SwissProt</Source>
+                <Reference>P62258</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11497">
+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2401">
+      <OrphaCode>2623</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2623</ExpertLink>
+      <Name lang="en">Geleophysic dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301776[PMID]_21683322[PMID]</SourceOfValidation>
+          <Gene id="16032">
+            <Name lang="en">fibrillin 1</Name>
+            <Symbol>FBN1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MASS</Synonym>
+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57333">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
+              </ExternalReference>
+              <ExternalReference id="29363">
+                <Source>Genatlas</Source>
+                <Reference>FBN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29365">
+                <Source>HGNC</Source>
+                <Reference>3603</Reference>
+              </ExternalReference>
+              <ExternalReference id="29364">
+                <Source>OMIM</Source>
+                <Reference>134797</Reference>
+              </ExternalReference>
+              <ExternalReference id="57334">
+                <Source>Reactome</Source>
+                <Reference>P35555</Reference>
+              </ExternalReference>
+              <ExternalReference id="33046">
+                <Source>SwissProt</Source>
+                <Reference>P35555</Reference>
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+            <LocusList count="1">
+              <Locus id="8511">
+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301776[PMID]</SourceOfValidation>
+          <Gene id="18351">
+            <Name lang="en">ADAMTS like 2</Name>
+            <Symbol>ADAMTSL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0605</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58254">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197859</Reference>
+              </ExternalReference>
+              <ExternalReference id="41677">
+                <Source>Genatlas</Source>
+                <Reference>ADAMTSL2</Reference>
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+              <ExternalReference id="41678">
+                <Source>HGNC</Source>
+                <Reference>14631</Reference>
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+              <ExternalReference id="41679">
+                <Source>OMIM</Source>
+                <Reference>612277</Reference>
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+              <ExternalReference id="87988">
+                <Source>Reactome</Source>
+                <Reference>Q86TH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="41680">
+                <Source>SwissProt</Source>
+                <Reference>Q86TH1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="23739">
+                <GeneLocus>9q34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27068007[PMID]</SourceOfValidation>
+          <Gene id="18363">
+            <Name lang="en">latent transforming growth factor beta binding protein 3</Name>
+            <Symbol>LTBP3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59917">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168056</Reference>
+              </ExternalReference>
+              <ExternalReference id="41769">
+                <Source>Genatlas</Source>
+                <Reference>LTBP3</Reference>
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+              <ExternalReference id="41770">
+                <Source>HGNC</Source>
+                <Reference>6716</Reference>
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+              <ExternalReference id="41771">
+                <Source>OMIM</Source>
+                <Reference>602090</Reference>
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+              <ExternalReference id="83136">
+                <Source>Reactome</Source>
+                <Reference>Q9NS15</Reference>
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+              <ExternalReference id="41772">
+                <Source>SwissProt</Source>
+                <Reference>Q9NS15</Reference>
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+            <LocusList count="1">
+              <Locus id="25957">
+                <GeneLocus>11q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19875">
+      <OrphaCode>261330</OrphaCode>
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+      <Name lang="en">Distal 22q11.2 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15365">
+            <Name lang="en">BCR activator of RhoGEF and GTPase</Name>
+            <Symbol>BCR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALL</Synonym>
+              <Synonym lang="en">CML</Synonym>
+              <Synonym lang="en">D22S662</Synonym>
+              <Synonym lang="en">PHL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56848">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186716</Reference>
+              </ExternalReference>
+              <ExternalReference id="36244">
+                <Source>Genatlas</Source>
+                <Reference>BCR</Reference>
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+              <ExternalReference id="26170">
+                <Source>HGNC</Source>
+                <Reference>1014</Reference>
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+              <ExternalReference id="87966">
+                <Source>IUPHAR</Source>
+                <Reference>2755</Reference>
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+                <Source>OMIM</Source>
+                <Reference>151410</Reference>
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+              <ExternalReference id="56849">
+                <Source>Reactome</Source>
+                <Reference>P11274</Reference>
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+              <ExternalReference id="33922">
+                <Source>SwissProt</Source>
+                <Reference>P11274</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="17413">
+            <Name lang="en">mitogen-activated protein kinase 1</Name>
+            <Symbol>MAPK1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ERK</Synonym>
+              <Synonym lang="en">ERK2</Synonym>
+              <Synonym lang="en">MAPK2</Synonym>
+              <Synonym lang="en">p41mapk</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56851">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100030</Reference>
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+              <ExternalReference id="37632">
+                <Source>Genatlas</Source>
+                <Reference>MAPK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6871</Reference>
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+              <ExternalReference id="83090">
+                <Source>IUPHAR</Source>
+                <Reference>1495</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176948</Reference>
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+              <ExternalReference id="56852">
+                <Source>Reactome</Source>
+                <Reference>P28482</Reference>
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+              <ExternalReference id="37635">
+                <Source>SwissProt</Source>
+                <Reference>P28482</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">CRK like proto-oncogene, adaptor protein</Name>
+            <Symbol>CRKL</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="76907">
+                <Source>OMIM</Source>
+                <Reference>602007</Reference>
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+              <ExternalReference id="83649">
+                <Source>Reactome</Source>
+                <Reference>P46109</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P46109</Reference>
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+              <ExternalReference id="83650">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099942</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CRKL</Reference>
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+                <Reference>2363</Reference>
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+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261323</ExpertLink>
+      <Name lang="en">21q22.11q22.12 microdeletion syndrome</Name>
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+            <Name lang="en">kinesin family member 15</Name>
+            <Symbol>KIF15</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HKLP2</Synonym>
+              <Synonym lang="en">NY-BR-62</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="144366">
+                <Source>HGNC</Source>
+                <Reference>17273</Reference>
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+              <ExternalReference id="144367">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163808</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NS87</Reference>
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+                <Reference>617569</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIF15</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NS87</Reference>
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+      <Name lang="en">Fibular aplasia-complex brachydactyly syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">bone morphogenetic protein receptor type 1B</Name>
+            <Symbol>BMPR1B</Symbol>
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+              <Synonym lang="en">ALK6</Synonym>
+              <Synonym lang="en">CDw293</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138696</Reference>
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+              <ExternalReference id="26205">
+                <Source>Genatlas</Source>
+                <Reference>BMPR1B</Reference>
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+              <ExternalReference id="26207">
+                <Source>HGNC</Source>
+                <Reference>1077</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1789</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603248</Reference>
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+              <ExternalReference id="59688">
+                <Source>Reactome</Source>
+                <Reference>O00238</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00238</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="16114">
+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">BMP14</Synonym>
+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="29775">
+                <Source>OMIM</Source>
+                <Reference>601146</Reference>
+              </ExternalReference>
+              <ExternalReference id="82927">
+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
+              </ExternalReference>
+              <ExternalReference id="33129">
+                <Source>SwissProt</Source>
+                <Reference>P43026</Reference>
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+              <ExternalReference id="57987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
+              </ExternalReference>
+              <ExternalReference id="29774">
+                <Source>Genatlas</Source>
+                <Reference>GDF5</Reference>
+              </ExternalReference>
+              <ExternalReference id="29776">
+                <Source>HGNC</Source>
+                <Reference>4220</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22773">
+                <GeneLocus>20q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19880">
+      <OrphaCode>261483</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261483</ExpertLink>
+      <Name lang="en">Xq27.3q28 duplication syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19844254[PMID]</SourceOfValidation>
+          <Gene id="16063">
+            <Name lang="en">fragile X messenger ribonucleoprotein 1</Name>
+            <Symbol>FMR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FMRP</Synonym>
+              <Synonym lang="en">FRAXA</Synonym>
+              <Synonym lang="en">MGC87458</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56832">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102081</Reference>
+              </ExternalReference>
+              <ExternalReference id="29531">
+                <Source>Genatlas</Source>
+                <Reference>FMR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29529">
+                <Source>HGNC</Source>
+                <Reference>3775</Reference>
+              </ExternalReference>
+              <ExternalReference id="29528">
+                <Source>OMIM</Source>
+                <Reference>309550</Reference>
+              </ExternalReference>
+              <ExternalReference id="33078">
+                <Source>SwissProt</Source>
+                <Reference>Q06787</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8569">
+                <GeneLocus>Xq27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="2409">
+      <OrphaCode>2632</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2632</ExpertLink>
+      <Name lang="en">Langer mesomelic dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12116254[PMID]_20301394[PMID]</SourceOfValidation>
+          <Gene id="15291">
+            <Name lang="en">short stature homeobox</Name>
+            <Symbol>SHOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GCFX</Synonym>
+              <Synonym lang="en">PHOG</Synonym>
+              <Synonym lang="en">SHOXY</Synonym>
+              <Synonym lang="en">SS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="36285">
+                <Source>OMIM</Source>
+                <Reference>312865</Reference>
+              </ExternalReference>
+              <ExternalReference id="95202">
+                <Source>OMIM</Source>
+                <Reference>400020</Reference>
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+              <ExternalReference id="33849">
+                <Source>SwissProt</Source>
+                <Reference>O15266</Reference>
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+              <ExternalReference id="57939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185960</Reference>
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+              <ExternalReference id="25813">
+                <Source>Genatlas</Source>
+                <Reference>SHOX</Reference>
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+              <ExternalReference id="25815">
+                <Source>HGNC</Source>
+                <Reference>10853</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="69349">
+                <GeneLocus>Xp22.33 and Yp11.32</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2421">
+      <OrphaCode>2646</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2646</ExpertLink>
+      <Name lang="en">Parastremmatic dwarfism</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20503319[PMID]_24830047[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
+              </ExternalReference>
+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
+                <Reference>TRPV4</Reference>
+              </ExternalReference>
+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
+              </ExternalReference>
+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
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+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+              <ExternalReference id="82619">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
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+            <LocusList count="1">
+              <Locus id="15867">
+                <GeneLocus>12q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2420">
+      <OrphaCode>2645</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2645</ExpertLink>
+      <Name lang="en">Osteoglosphonic dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15625620[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
+              </ExternalReference>
+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+              <ExternalReference id="29431">
+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+              <ExternalReference id="82916">
+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+              <ExternalReference id="29430">
+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
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+                <GeneLocus>8p11.23</GeneLocus>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="19893">
+      <OrphaCode>261584</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261584</ExpertLink>
+      <Name lang="en">Familial adenomatous polyposis due to 5q22.2 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301519[PMID]</SourceOfValidation>
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+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
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+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
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+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
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+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
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+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
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+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19894">
+      <OrphaCode>261600</OrphaCode>
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+      <Name lang="en">Alagille syndrome due to 20p12 microdeletion</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21934706[PMID]</SourceOfValidation>
+          <Gene id="16278">
+            <Name lang="en">jagged canonical Notch ligand 1</Name>
+            <Symbol>JAG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AHD</Synonym>
+              <Synonym lang="en">AWS</Synonym>
+              <Synonym lang="en">CD339</Synonym>
+              <Synonym lang="en">HJ1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101384</Reference>
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+              <ExternalReference id="30554">
+                <Source>Genatlas</Source>
+                <Reference>JAG1</Reference>
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+              <ExternalReference id="30556">
+                <Source>HGNC</Source>
+                <Reference>6188</Reference>
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+              <ExternalReference id="30555">
+                <Source>OMIM</Source>
+                <Reference>601920</Reference>
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+              <ExternalReference id="57707">
+                <Source>Reactome</Source>
+                <Reference>P78504</Reference>
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+              <ExternalReference id="33343">
+                <Source>SwissProt</Source>
+                <Reference>P78504</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19895">
+      <OrphaCode>261619</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261619</ExpertLink>
+      <Name lang="en">Alagille syndrome due to a JAG1 point mutation</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>21934706[PMID]</SourceOfValidation>
+          <Gene id="16278">
+            <Name lang="en">jagged canonical Notch ligand 1</Name>
+            <Symbol>JAG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AHD</Synonym>
+              <Synonym lang="en">AWS</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57706">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>JAG1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6188</Reference>
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+              <ExternalReference id="30555">
+                <Source>OMIM</Source>
+                <Reference>601920</Reference>
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+              <ExternalReference id="57707">
+                <Source>Reactome</Source>
+                <Reference>P78504</Reference>
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+              <ExternalReference id="33343">
+                <Source>SwissProt</Source>
+                <Reference>P78504</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261537</ExpertLink>
+      <Name lang="en">Mowat-Wilson syndrome due to monosomy 2q22</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301585[PMID]</SourceOfValidation>
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+            <Name lang="en">zinc finger E-box binding homeobox 2</Name>
+            <Symbol>ZEB2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0569</Synonym>
+              <Synonym lang="en">SIP-1</Synonym>
+              <Synonym lang="en">SIP1</Synonym>
+              <Synonym lang="en">SMAD interacting protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>O60315</Reference>
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+              <ExternalReference id="58149">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169554</Reference>
+              </ExternalReference>
+              <ExternalReference id="36581">
+                <Source>Genatlas</Source>
+                <Reference>ZEB2</Reference>
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+              <ExternalReference id="27964">
+                <Source>HGNC</Source>
+                <Reference>14881</Reference>
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+              <ExternalReference id="27963">
+                <Source>OMIM</Source>
+                <Reference>605802</Reference>
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+              <ExternalReference id="32712">
+                <Source>SwissProt</Source>
+                <Reference>O60315</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19889">
+      <OrphaCode>261552</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261552</ExpertLink>
+      <Name lang="en">Mowat-Wilson syndrome due to a ZEB2 point mutation</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301585[PMID]</SourceOfValidation>
+          <Gene id="15740">
+            <Name lang="en">zinc finger E-box binding homeobox 2</Name>
+            <Symbol>ZEB2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0569</Synonym>
+              <Synonym lang="en">SIP-1</Synonym>
+              <Synonym lang="en">SIP1</Synonym>
+              <Synonym lang="en">SMAD interacting protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143091">
+                <Source>Reactome</Source>
+                <Reference>O60315</Reference>
+              </ExternalReference>
+              <ExternalReference id="58149">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169554</Reference>
+              </ExternalReference>
+              <ExternalReference id="36581">
+                <Source>Genatlas</Source>
+                <Reference>ZEB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27964">
+                <Source>HGNC</Source>
+                <Reference>14881</Reference>
+              </ExternalReference>
+              <ExternalReference id="27963">
+                <Source>OMIM</Source>
+                <Reference>605802</Reference>
+              </ExternalReference>
+              <ExternalReference id="32712">
+                <Source>SwissProt</Source>
+                <Reference>O60315</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37899">
+                <GeneLocus>2q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2418">
+      <OrphaCode>2636</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2636</ExpertLink>
+      <Name lang="en">Microcephalic osteodysplastic primordial dwarfism types I and III</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21815888[PMID]_23794361[PMID]</SourceOfValidation>
+          <Gene id="20137">
+            <Name lang="en">RNA, U4atac small nuclear (U12-dependent splicing)</Name>
+            <Symbol>RNU4ATAC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RNU4ATAC1</Synonym>
+              <Synonym lang="en">U4atac</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="95178">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000264229</Reference>
+              </ExternalReference>
+              <ExternalReference id="84656">
+                <Source>Genatlas</Source>
+                <Reference>RNU4ATAC</Reference>
+              </ExternalReference>
+              <ExternalReference id="51432">
+                <Source>HGNC</Source>
+                <Reference>34016</Reference>
+              </ExternalReference>
+              <ExternalReference id="51433">
+                <Source>OMIM</Source>
+                <Reference>601428</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14521">
+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2429">
+      <OrphaCode>2658</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2658</ExpertLink>
+      <Name lang="en">Lenz-Majewski hyperostotic dwarfism</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24241535[PMID]</SourceOfValidation>
+          <Gene id="22633">
+            <Name lang="en">phosphatidylserine synthase 1</Name>
+            <Symbol>PTDSS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0024</Synonym>
+              <Synonym lang="en">PSS1</Synonym>
+              <Synonym lang="en">PSSA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87615">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156471</Reference>
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+              <ExternalReference id="85439">
+                <Source>Genatlas</Source>
+                <Reference>PTDSS1</Reference>
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+              <ExternalReference id="85437">
+                <Source>HGNC</Source>
+                <Reference>9587</Reference>
+              </ExternalReference>
+              <ExternalReference id="85438">
+                <Source>OMIM</Source>
+                <Reference>612792</Reference>
+              </ExternalReference>
+              <ExternalReference id="87614">
+                <Source>Reactome</Source>
+                <Reference>P48651</Reference>
+              </ExternalReference>
+              <ExternalReference id="85440">
+                <Source>SwissProt</Source>
+                <Reference>P48651</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23047">
+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19896">
+      <OrphaCode>261629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=261629</ExpertLink>
+      <Name lang="en">Alagille syndrome due to a NOTCH2 point mutation</Name>
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+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21934706[PMID]</SourceOfValidation>
+          <Gene id="16558">
+            <Name lang="en">notch receptor 2</Name>
+            <Symbol>NOTCH2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57984">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134250</Reference>
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+              <ExternalReference id="31859">
+                <Source>Genatlas</Source>
+                <Reference>NOTCH2</Reference>
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+              <ExternalReference id="31861">
+                <Source>HGNC</Source>
+                <Reference>7882</Reference>
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+              <ExternalReference id="31860">
+                <Source>OMIM</Source>
+                <Reference>600275</Reference>
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+              <ExternalReference id="57985">
+                <Source>Reactome</Source>
+                <Reference>Q04721</Reference>
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+              <ExternalReference id="33623">
+                <Source>SwissProt</Source>
+                <Reference>Q04721</Reference>
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+              <ExternalReference id="190375">
+                <Source>IUPHAR</Source>
+                <Reference>2859</Reference>
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+              <Locus id="60159">
+                <GeneLocus>1p12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19897">
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+      <Name lang="en">Okihiro syndrome due to 20q13 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>16086360[PMID]_20301547[PMID]</SourceOfValidation>
+          <Gene id="15242">
+            <Name lang="en">spalt like transcription factor 4</Name>
+            <Symbol>SALL4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ZNF797</Synonym>
+              <Synonym lang="en">dJ1112F19.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57986">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101115</Reference>
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+              <ExternalReference id="25579">
+                <Source>Genatlas</Source>
+                <Reference>SALL4</Reference>
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+              <ExternalReference id="25581">
+                <Source>HGNC</Source>
+                <Reference>15924</Reference>
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+              <ExternalReference id="25580">
+                <Source>OMIM</Source>
+                <Reference>607343</Reference>
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+              <ExternalReference id="87960">
+                <Source>Reactome</Source>
+                <Reference>Q9UJQ4</Reference>
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+              <ExternalReference id="33800">
+                <Source>SwissProt</Source>
+                <Reference>Q9UJQ4</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19898">
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+      <Name lang="en">Okihiro syndrome due to a point mutation</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">spalt like transcription factor 4</Name>
+            <Symbol>SALL4</Symbol>
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+              <Synonym lang="en">ZNF797</Synonym>
+              <Synonym lang="en">dJ1112F19.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57986">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101115</Reference>
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+              <ExternalReference id="25579">
+                <Source>Genatlas</Source>
+                <Reference>SALL4</Reference>
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+              <ExternalReference id="25581">
+                <Source>HGNC</Source>
+                <Reference>15924</Reference>
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+              <ExternalReference id="25580">
+                <Source>OMIM</Source>
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+              <ExternalReference id="87960">
+                <Source>Reactome</Source>
+                <Reference>Q9UJQ4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UJQ4</Reference>
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+      <Name lang="en">Kleefstra syndrome due to a point mutation</Name>
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+            <Name lang="en">lysine methyltransferase 2C</Name>
+            <Symbol>KMT2C</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">Histone-lysine N-methyltransferase 2C</Synonym>
+              <Synonym lang="en">KIAA1506</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>13726</Reference>
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+              <ExternalReference id="146402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000055609</Reference>
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+              <ExternalReference id="146403">
+                <Source>SwissProt</Source>
+                <Reference>Q8NEZ4</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="146405">
+                <Source>Reactome</Source>
+                <Reference>Q8NEZ4</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KMT2C</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2690</Reference>
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+            <Symbol>EHMT1</Symbol>
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+              <Synonym lang="en">FLJ12879</Synonym>
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+              <Synonym lang="en">KIAA1876</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>EHMT1</Reference>
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+                <Reference>24650</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H9B1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H9B1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181090</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Monoamine oxidase A deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">monoamine oxidase A</Name>
+            <Symbol>MAOA</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189221</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MAOA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6833</Reference>
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+                <Reference>309850</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P21397</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21397</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2489</Reference>
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+      <Name lang="en">Blepharophimosis-intellectual disability syndrome, SBBYS type</Name>
+      <DisorderType id="21401">
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22715153[PMID]_23236640[PMID]</SourceOfValidation>
+          <Gene id="20645">
+            <Name lang="en">lysine acetyltransferase 6B</Name>
+            <Symbol>KAT6B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">MOZ-related factor</Synonym>
+              <Synonym lang="en">MOZ2</Synonym>
+              <Synonym lang="en">Morf</Synonym>
+              <Synonym lang="en">ZC2HC6B</Synonym>
+              <Synonym lang="en">qkf</Synonym>
+              <Synonym lang="en">querkopf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>605880</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WYB5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WYB5</Reference>
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+              <ExternalReference id="56970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156650</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KAT6B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17582</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2666</Reference>
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+            <LocusList count="1">
+              <Locus id="60487">
+                <GeneLocus>10q22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2735">
+      <OrphaCode>3042</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3042</ExpertLink>
+      <Name lang="en">Intellectual disability-cataracts-calcified pinnae-myopathy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25017102[PMID]</SourceOfValidation>
+          <Gene id="23000">
+            <Name lang="en">zinc finger and BTB domain containing 20</Name>
+            <Symbol>ZBTB20</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp566F123</Synonym>
+              <Synonym lang="en">DPZF</Synonym>
+              <Synonym lang="en">ODA-8S</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="94503">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181722</Reference>
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+              <ExternalReference id="94501">
+                <Source>Genatlas</Source>
+                <Reference>ZBTB20</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13503</Reference>
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+              <ExternalReference id="94500">
+                <Source>OMIM</Source>
+                <Reference>606025</Reference>
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+              <ExternalReference id="94502">
+                <Source>SwissProt</Source>
+                <Reference>Q9HC78</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20073">
+      <OrphaCode>263662</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263662</ExpertLink>
+      <Name lang="en">Familial multiple meningioma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20930055[PMID]</SourceOfValidation>
+          <Gene id="15526">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1</Name>
+            <Symbol>SMARCB1</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">BAF47</Synonym>
+              <Synonym lang="en">Ini1</Synonym>
+              <Synonym lang="en">PPP1R144</Synonym>
+              <Synonym lang="en">RDT</Synonym>
+              <Synonym lang="en">SNF5</Synonym>
+              <Synonym lang="en">Sfh1p</Synonym>
+              <Synonym lang="en">Snr1</Synonym>
+              <Synonym lang="en">hSNFS</Synonym>
+              <Synonym lang="en">integrase interactor 1</Synonym>
+              <Synonym lang="en">malignant rhabdoid tumor suppressor</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 144</Synonym>
+              <Synonym lang="en">sucrose nonfermenting, yeast, homolog-like 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91583">
+                <Source>Reactome</Source>
+                <Reference>Q12824</Reference>
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+              <ExternalReference id="32497">
+                <Source>SwissProt</Source>
+                <Reference>Q12824</Reference>
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+              <ExternalReference id="59207">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099956</Reference>
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+              <ExternalReference id="26952">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11103</Reference>
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+                <Reference>601607</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22958902[PMID]</SourceOfValidation>
+          <Gene id="15569">
+            <Name lang="en">SUFU negative regulator of hedgehog signaling</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">PRO1280</Synonym>
+              <Synonym lang="en">SUFUH</Synonym>
+              <Synonym lang="en">SUFUXL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97184">
+                <Source>Reactome</Source>
+                <Reference>Q9UMX1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UMX1</Reference>
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+              <ExternalReference id="60476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107882</Reference>
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+              <ExternalReference id="37370">
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+                <Reference>SUFU</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23377182[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073584</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          <Gene id="23524">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Reference>7907</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20068">
+      <OrphaCode>263534</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263534</ExpertLink>
+      <Name lang="en">Acral peeling skin syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26684698[PMID]</SourceOfValidation>
+          <Gene id="20747">
+            <Name lang="en">cystatin A</Name>
+            <Symbol>CSTA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">stefin A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126406">
+                <Source>Reactome</Source>
+                <Reference>P01040</Reference>
+              </ExternalReference>
+              <ExternalReference id="60624">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121552</Reference>
+              </ExternalReference>
+              <ExternalReference id="55850">
+                <Source>Genatlas</Source>
+                <Reference>CSTA</Reference>
+              </ExternalReference>
+              <ExternalReference id="55848">
+                <Source>HGNC</Source>
+                <Reference>2481</Reference>
+              </ExternalReference>
+              <ExternalReference id="55849">
+                <Source>OMIM</Source>
+                <Reference>184600</Reference>
+              </ExternalReference>
+              <ExternalReference id="55851">
+                <Source>SwissProt</Source>
+                <Reference>P01040</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26797">
+                <GeneLocus>3q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9767297[PMID]</SourceOfValidation>
+          <Gene id="15614">
+            <Name lang="en">transglutaminase 5</Name>
+            <Symbol>TGM5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TGMX</Synonym>
+              <Synonym lang="en">TGX</Synonym>
+              <Synonym lang="en">protein-glutamine gamma-glutamyltransferase 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126331">
+                <Source>Reactome</Source>
+                <Reference>O43548</Reference>
+              </ExternalReference>
+              <ExternalReference id="60511">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104055</Reference>
+              </ExternalReference>
+              <ExternalReference id="27371">
+                <Source>Genatlas</Source>
+                <Reference>TGM5</Reference>
+              </ExternalReference>
+              <ExternalReference id="27373">
+                <Source>HGNC</Source>
+                <Reference>11781</Reference>
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+              <ExternalReference id="27372">
+                <Source>OMIM</Source>
+                <Reference>603805</Reference>
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+              <ExternalReference id="32585">
+                <Source>SwissProt</Source>
+                <Reference>O43548</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26647">
+                <GeneLocus>15q15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20066">
+      <OrphaCode>263516</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263516</ExpertLink>
+      <Name lang="en">Progressive myoclonic epilepsy type 3</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22693283[PMID]_22748208[PMID]</SourceOfValidation>
+          <Gene id="20180">
+            <Name lang="en">potassium channel tetramerization domain containing 7</Name>
+            <Symbol>KCTD7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CLN14</Synonym>
+              <Synonym lang="en">EPM3</Synonym>
+              <Synonym lang="en">FLJ32069</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126401">
+                <Source>Reactome</Source>
+                <Reference>Q96MP8</Reference>
+              </ExternalReference>
+              <ExternalReference id="60510">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000243335</Reference>
+              </ExternalReference>
+              <ExternalReference id="51842">
+                <Source>Genatlas</Source>
+                <Reference>KCTD7</Reference>
+              </ExternalReference>
+              <ExternalReference id="51840">
+                <Source>HGNC</Source>
+                <Reference>21957</Reference>
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+              <ExternalReference id="51841">
+                <Source>OMIM</Source>
+                <Reference>611725</Reference>
+              </ExternalReference>
+              <ExternalReference id="51843">
+                <Source>SwissProt</Source>
+                <Reference>Q96MP8</Reference>
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+            <LocusList count="1">
+              <Locus id="26787">
+                <GeneLocus>7q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="20067">
+      <OrphaCode>263524</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263524</ExpertLink>
+      <Name lang="en">Acute necrotizing encephalopathy of childhood</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20934285[PMID]</SourceOfValidation>
+          <Gene id="15796">
+            <Name lang="en">carnitine palmitoyltransferase 2</Name>
+            <Symbol>CPT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPTASE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28230">
+                <Source>Genatlas</Source>
+                <Reference>CPT2</Reference>
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+              <ExternalReference id="28232">
+                <Source>HGNC</Source>
+                <Reference>2330</Reference>
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+              <ExternalReference id="28231">
+                <Source>OMIM</Source>
+                <Reference>600650</Reference>
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+              <ExternalReference id="60372">
+                <Source>Reactome</Source>
+                <Reference>P23786</Reference>
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+              <ExternalReference id="32768">
+                <Source>SwissProt</Source>
+                <Reference>P23786</Reference>
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+              <ExternalReference id="60371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157184</Reference>
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+                <GeneLocus>1p32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19807769[PMID]</SourceOfValidation>
+          <Gene id="17981">
+            <Name lang="en">RAN binding protein 2</Name>
+            <Symbol>RANBP2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ADANE</Synonym>
+              <Synonym lang="en">NUP358</Synonym>
+              <Synonym lang="en">nucleoporin 358</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59514">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153201</Reference>
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+              <ExternalReference id="40602">
+                <Source>Genatlas</Source>
+                <Reference>RANBP2</Reference>
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+              <ExternalReference id="40603">
+                <Source>HGNC</Source>
+                <Reference>9848</Reference>
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+              <ExternalReference id="40604">
+                <Source>OMIM</Source>
+                <Reference>601181</Reference>
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+              <ExternalReference id="59515">
+                <Source>Reactome</Source>
+                <Reference>P49792</Reference>
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+              <ExternalReference id="40605">
+                <Source>SwissProt</Source>
+                <Reference>P49792</Reference>
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+            <LocusList count="1">
+              <Locus id="10551">
+                <GeneLocus>2q13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="20064">
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+      <Name lang="en">COG4-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="20272">
+            <Name lang="en">component of oligomeric golgi complex 4</Name>
+            <Symbol>COG4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COD1</Synonym>
+              <Synonym lang="en">DKFZP586E1519</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="52042">
+                <Source>OMIM</Source>
+                <Reference>606976</Reference>
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+              <ExternalReference id="98093">
+                <Source>Reactome</Source>
+                <Reference>Q9H9E3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H9E3</Reference>
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+              <ExternalReference id="60508">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103051</Reference>
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+              <ExternalReference id="52043">
+                <Source>Genatlas</Source>
+                <Reference>COG4</Reference>
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+                <Reference>18620</Reference>
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+                <GeneLocus>16q22.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>263508</OrphaCode>
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+      <Name lang="en">COG1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="17983">
+            <Name lang="en">component of oligomeric golgi complex 1</Name>
+            <Symbol>COG1</Symbol>
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+              <Synonym lang="en">KIAA1381</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8WTW3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WTW3</Reference>
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+              <ExternalReference id="60509">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166685</Reference>
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+              <ExternalReference id="40612">
+                <Source>Genatlas</Source>
+                <Reference>COG1</Reference>
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+      <OrphaCode>263482</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263482</ExpertLink>
+      <Name lang="en">Spondyloepiphyseal dysplasia, Maroteaux type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
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+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+                <Reference>Q9HBA0</Reference>
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+      <OrphaCode>3021</OrphaCode>
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+      <Name lang="en">RAPADILINO syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15196">
+            <Name lang="en">RecQ like helicase 4</Name>
+            <Symbol>RECQL4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RecQ4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>9949</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603780</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O94761</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160957</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RECQL4</Reference>
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+      <OrphaCode>263494</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263494</ExpertLink>
+      <Name lang="en">DPM3-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="20271">
+            <Name lang="en">dolichyl-phosphate mannosyltransferase subunit 3, regulatory</Name>
+            <Symbol>DPM3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPM synthase complex subunit</Synonym>
+              <Synonym lang="en">MGC125904</Synonym>
+              <Synonym lang="en">MGC125905</Synonym>
+              <Synonym lang="en">MGC34275</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179085</Reference>
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+                <Reference>DPM3</Reference>
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+              <ExternalReference id="52034">
+                <Source>HGNC</Source>
+                <Reference>3007</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605951</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9P2X0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9P2X0</Reference>
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+            <LocusList count="1">
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+      <Name lang="en">COG5-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>COG5</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164597</Reference>
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+              <ExternalReference id="52029">
+                <Source>Genatlas</Source>
+                <Reference>COG5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14857</Reference>
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+                <Reference>606821</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UP83</Reference>
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+                <Reference>Q9UP83</Reference>
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+      <Name lang="en">Hyperinsulinism due to INSR deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171105</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>INSR</Reference>
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+                <Reference>6091</Reference>
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+      <Name lang="en">Hyperinsulinism due to HNF4A deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>5024</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">golgi casein kinase</Synonym>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <GeneLocus>7p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20046">
+      <OrphaCode>263347</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263347</ExpertLink>
+      <Name lang="en">MRCS syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15452077[PMID]</SourceOfValidation>
+          <Gene id="15368">
+            <Name lang="en">bestrophin 1</Name>
+            <Symbol>BEST1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BEST</Synonym>
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">Best disease</Synonym>
+              <Synonym lang="en">RP50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167995</Reference>
+              </ExternalReference>
+              <ExternalReference id="36509">
+                <Source>Genatlas</Source>
+                <Reference>BEST1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26183">
+                <Source>HGNC</Source>
+                <Reference>12703</Reference>
+              </ExternalReference>
+              <ExternalReference id="26182">
+                <Source>OMIM</Source>
+                <Reference>607854</Reference>
+              </ExternalReference>
+              <ExternalReference id="82787">
+                <Source>Reactome</Source>
+                <Reference>O76090</Reference>
+              </ExternalReference>
+              <ExternalReference id="33925">
+                <Source>SwissProt</Source>
+                <Reference>O76090</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25627">
+                <GeneLocus>11q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2692">
+      <OrphaCode>2990</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2990</ExpertLink>
+      <Name lang="en">Autosomal recessive multiple pterygium syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22167768[PMID]</SourceOfValidation>
+          <Gene id="15452">
+            <Name lang="en">cholinergic receptor nicotinic gamma subunit</Name>
+            <Symbol>CHRNG</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, gamma (muscle)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58958">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196811</Reference>
+              </ExternalReference>
+              <ExternalReference id="26585">
+                <Source>Genatlas</Source>
+                <Reference>CHRNG</Reference>
+              </ExternalReference>
+              <ExternalReference id="26587">
+                <Source>HGNC</Source>
+                <Reference>1967</Reference>
+              </ExternalReference>
+              <ExternalReference id="82815">
+                <Source>IUPHAR</Source>
+                <Reference>475</Reference>
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+              <ExternalReference id="26586">
+                <Source>OMIM</Source>
+                <Reference>100730</Reference>
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+              <ExternalReference id="58959">
+                <Source>Reactome</Source>
+                <Reference>P07510</Reference>
+              </ExternalReference>
+              <ExternalReference id="32421">
+                <Source>SwissProt</Source>
+                <Reference>P07510</Reference>
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+            <LocusList count="1">
+              <Locus id="7435">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29805041[PMID]</SourceOfValidation>
+          <Gene id="16499">
+            <Name lang="en">myosin heavy chain 3</Name>
+            <Symbol>MYH3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HEMHC</Synonym>
+              <Synonym lang="en">MYHC-EMB</Synonym>
+              <Synonym lang="en">MYHSE1</Synonym>
+              <Synonym lang="en">SMHCE</Synonym>
+              <Synonym lang="en">muscle embryonic myosin heavy chain 3</Synonym>
+              <Synonym lang="en">myosin, skeletal, heavy chain, embryonic 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109063</Reference>
+              </ExternalReference>
+              <ExternalReference id="31584">
+                <Source>Genatlas</Source>
+                <Reference>MYH3</Reference>
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+              <ExternalReference id="31582">
+                <Source>HGNC</Source>
+                <Reference>7573</Reference>
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+              <ExternalReference id="31581">
+                <Source>OMIM</Source>
+                <Reference>160720</Reference>
+              </ExternalReference>
+              <ExternalReference id="57256">
+                <Source>Reactome</Source>
+                <Reference>P11055</Reference>
+              </ExternalReference>
+              <ExternalReference id="33564">
+                <Source>SwissProt</Source>
+                <Reference>P11055</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="20039">
+      <OrphaCode>263297</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=263297</ExpertLink>
+      <Name lang="en">Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20357282[PMID]</SourceOfValidation>
+          <Gene id="20269">
+            <Name lang="en">glycogenin 1</Name>
+            <Symbol>GYG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">glycogenin glucosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60503">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163754</Reference>
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+              <ExternalReference id="52002">
+                <Source>Genatlas</Source>
+                <Reference>GYG1</Reference>
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+              <ExternalReference id="52000">
+                <Source>HGNC</Source>
+                <Reference>4699</Reference>
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+              <ExternalReference id="52001">
+                <Source>OMIM</Source>
+                <Reference>603942</Reference>
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+              <ExternalReference id="60504">
+                <Source>Reactome</Source>
+                <Reference>P46976</Reference>
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+              <ExternalReference id="52003">
+                <Source>SwissProt</Source>
+                <Reference>P46976</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3q24</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2808">
+      <OrphaCode>3138</OrphaCode>
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+      <Name lang="en">Ulnar-mammary syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19938096[PMID]_10330342[PMID]_12668170[PMID]</SourceOfValidation>
+          <Gene id="15587">
+            <Name lang="en">T-box transcription factor 3</Name>
+            <Symbol>TBX3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TBX3-ISO</Synonym>
+              <Synonym lang="en">XHL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58326">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135111</Reference>
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+              <ExternalReference id="27245">
+                <Source>Genatlas</Source>
+                <Reference>TBX3</Reference>
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+              <ExternalReference id="27243">
+                <Source>HGNC</Source>
+                <Reference>11602</Reference>
+              </ExternalReference>
+              <ExternalReference id="27242">
+                <Source>OMIM</Source>
+                <Reference>601621</Reference>
+              </ExternalReference>
+              <ExternalReference id="32558">
+                <Source>SwissProt</Source>
+                <Reference>O15119</Reference>
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+              <ExternalReference id="143400">
+                <Source>Reactome</Source>
+                <Reference>O15119</Reference>
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+                <GeneLocus>12q24.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="2813">
+      <OrphaCode>3144</OrphaCode>
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+      <Name lang="en">Schneckenbecken dysplasia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>19508970[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 35 member D1</Name>
+            <Symbol>SLC35D1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0260</Synonym>
+              <Synonym lang="en">UGTREL7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58327">
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+                <Reference>ENSG00000116704</Reference>
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+              <ExternalReference id="39261">
+                <Source>Genatlas</Source>
+                <Reference>SLC35D1</Reference>
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+              <ExternalReference id="39262">
+                <Source>HGNC</Source>
+                <Reference>20800</Reference>
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+              <ExternalReference id="39263">
+                <Source>OMIM</Source>
+                <Reference>610804</Reference>
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+              <ExternalReference id="58328">
+                <Source>Reactome</Source>
+                <Reference>Q9NTN3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NTN3</Reference>
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+                <Source>IUPHAR</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25997753[PMID]</SourceOfValidation>
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+            <Name lang="en">inositol polyphosphate phosphatase like 1</Name>
+            <Symbol>INPPL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">51C protein</Synonym>
+              <Synonym lang="en">SH2 domain-containing inositol 5'-phosphatase 2</Synonym>
+              <Synonym lang="en">SHIP2</Synonym>
+              <Synonym lang="en">phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165458</Reference>
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+                <Reference>6080</Reference>
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+                <Reference>1459</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600829</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15357</Reference>
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+                <Reference>O15357</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Schinzel-Giedion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20436468[PMID]_21371013[PMID]</SourceOfValidation>
+          <Gene id="19183">
+            <Name lang="en">SET binding protein 1</Name>
+            <Symbol>SETBP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0437</Synonym>
+              <Synonym lang="en">SEB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152217</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SETBP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15573</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611060</Reference>
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+              <ExternalReference id="46142">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6X0</Reference>
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+      <Name lang="en">Roussy-Lévy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">peripheral myelin protein 22</Name>
+            <Symbol>PMP22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
+              <Synonym lang="en">HNPP</Synonym>
+              <Synonym lang="en">Sp110</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PMP22</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9118</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601097</Reference>
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+              <ExternalReference id="32805">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10553995[PMID]</SourceOfValidation>
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+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
+              <Synonym lang="en">P0</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000158887</Reference>
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+              <ExternalReference id="31418">
+                <Source>Genatlas</Source>
+                <Reference>MPZ</Reference>
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+                <Reference>7225</Reference>
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+              <ExternalReference id="33528">
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+                <Reference>P25189</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2777">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3102</ExpertLink>
+      <Name lang="en">Richieri Costa-Pereira syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24360804[PMID]</SourceOfValidation>
+          <Gene id="22596">
+            <Name lang="en">eukaryotic translation initiation factor 4A3</Name>
+            <Symbol>EIF4A3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EIF4AIII</Synonym>
+              <Synonym lang="en">Fal1</Synonym>
+              <Synonym lang="en">KIAA0111</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="85386">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141543</Reference>
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+              <ExternalReference id="85205">
+                <Source>Genatlas</Source>
+                <Reference>EIF4A3</Reference>
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+              <ExternalReference id="85203">
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+                <Reference>18683</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="85385">
+                <Source>Reactome</Source>
+                <Reference>P38919</Reference>
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+              <ExternalReference id="85206">
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+                <Reference>P38919</Reference>
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+      <Name lang="en">Autosomal dominant Robinow syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="23684">
+            <Name lang="en">dishevelled segment polarity protein 3</Name>
+            <Symbol>DVL3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0208</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100782">
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+                <Source>Genatlas</Source>
+                <Reference>DVL3</Reference>
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+              <ExternalReference id="100784">
+                <Source>SwissProt</Source>
+                <Reference>Q92997</Reference>
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+              <ExternalReference id="100785">
+                <Source>Reactome</Source>
+                <Reference>Q92997</Reference>
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+              <ExternalReference id="100786">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19918918[PMID]</SourceOfValidation>
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+            <Name lang="en">Wnt family member 5A</Name>
+            <Symbol>WNT5A</Symbol>
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+              <Synonym lang="en">WNT-5A protein</Synonym>
+              <Synonym lang="en">hWNT5A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000114251</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000107404</Reference>
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+                <Reference>DVL1</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>O14640</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29276006[PMID]</SourceOfValidation>
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+            <Name lang="en">frizzled class receptor 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2752">
+      <OrphaCode>3063</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3063</ExpertLink>
+      <Name lang="en">X-linked intellectual disability, Snyder type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23805436[PMID]</SourceOfValidation>
+          <Gene id="16809">
+            <Name lang="en">spermine synthase</Name>
+            <Symbol>SMS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MRSR</Synonym>
+              <Synonym lang="en">SPMSY</Synonym>
+              <Synonym lang="en">SpS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58320">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102172</Reference>
+              </ExternalReference>
+              <ExternalReference id="35044">
+                <Source>Genatlas</Source>
+                <Reference>SMS</Reference>
+              </ExternalReference>
+              <ExternalReference id="35043">
+                <Source>HGNC</Source>
+                <Reference>11123</Reference>
+              </ExternalReference>
+              <ExternalReference id="35046">
+                <Source>OMIM</Source>
+                <Reference>300105</Reference>
+              </ExternalReference>
+              <ExternalReference id="58321">
+                <Source>Reactome</Source>
+                <Reference>P52788</Reference>
+              </ExternalReference>
+              <ExternalReference id="35045">
+                <Source>SwissProt</Source>
+                <Reference>P52788</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23503">
+                <GeneLocus>Xp22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2614">
+      <OrphaCode>2886</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2886</ExpertLink>
+      <Name lang="en">TARP syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21910224[PMID]</SourceOfValidation>
+          <Gene id="19229">
+            <Name lang="en">RNA binding motif protein 10</Name>
+            <Symbol>RBM10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DXS8237E</Synonym>
+              <Synonym lang="en">GPATC9</Synonym>
+              <Synonym lang="en">GPATCH9</Synonym>
+              <Synonym lang="en">KIAA0122</Synonym>
+              <Synonym lang="en">S1-1</Synonym>
+              <Synonym lang="en">ZRANB5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58306">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182872</Reference>
+              </ExternalReference>
+              <ExternalReference id="46567">
+                <Source>Genatlas</Source>
+                <Reference>RBM10</Reference>
+              </ExternalReference>
+              <ExternalReference id="46566">
+                <Source>HGNC</Source>
+                <Reference>9896</Reference>
+              </ExternalReference>
+              <ExternalReference id="46569">
+                <Source>OMIM</Source>
+                <Reference>300080</Reference>
+              </ExternalReference>
+              <ExternalReference id="46568">
+                <Source>SwissProt</Source>
+                <Reference>P98175</Reference>
+              </ExternalReference>
+              <ExternalReference id="143158">
+                <Source>Reactome</Source>
+                <Reference>P98175</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2612">
+      <OrphaCode>2884</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2884</ExpertLink>
+      <Name lang="en">Piebaldism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12955764[PMID]_24443330[PMID]</SourceOfValidation>
+          <Gene id="15530">
+            <Name lang="en">snail family transcriptional repressor 2</Name>
+            <Symbol>SNAI2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SLUGH</Synonym>
+              <Synonym lang="en">SLUGH1</Synonym>
+              <Synonym lang="en">SNAIL2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143798">
+                <Source>Reactome</Source>
+                <Reference>O43623</Reference>
+              </ExternalReference>
+              <ExternalReference id="57008">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000019549</Reference>
+              </ExternalReference>
+              <ExternalReference id="26970">
+                <Source>Genatlas</Source>
+                <Reference>SNAI2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26972">
+                <Source>HGNC</Source>
+                <Reference>11094</Reference>
+              </ExternalReference>
+              <ExternalReference id="26971">
+                <Source>OMIM</Source>
+                <Reference>602150</Reference>
+              </ExternalReference>
+              <ExternalReference id="32501">
+                <Source>SwissProt</Source>
+                <Reference>O43623</Reference>
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+            <LocusList count="1">
+              <Locus id="39059">
+                <GeneLocus>8q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22670867[PMID]_25199540[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
+              </ExternalReference>
+              <ExternalReference id="30699">
+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
+              </ExternalReference>
+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2610">
+      <OrphaCode>2879</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2879</ExpertLink>
+      <Name lang="en">Phocomelia, Schinzel type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23922166[PMID]_23266637[PMID]</SourceOfValidation>
+          <Gene id="15729">
+            <Name lang="en">Wnt family member 7A</Name>
+            <Symbol>WNT7A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Wnt-7a</Synonym>
+              <Synonym lang="en">proto-oncogene Wnt7a protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58292">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154764</Reference>
+              </ExternalReference>
+              <ExternalReference id="27915">
+                <Source>Genatlas</Source>
+                <Reference>WNT7A</Reference>
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+              <ExternalReference id="27913">
+                <Source>HGNC</Source>
+                <Reference>12786</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601570</Reference>
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+              <ExternalReference id="58293">
+                <Source>Reactome</Source>
+                <Reference>O00755</Reference>
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+              <ExternalReference id="32701">
+                <Source>SwissProt</Source>
+                <Reference>O00755</Reference>
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+                <GeneLocus>3p25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20223">
+      <OrphaCode>268920</OrphaCode>
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+      <Name lang="en">Isolated megalencephaly</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23687350[PMID]</SourceOfValidation>
+          <Gene id="22545">
+            <Name lang="en">TBC1 domain family member 7</Name>
+            <Symbol>TBC1D7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ32666</Synonym>
+              <Synonym lang="en">TS complex subunit 3</Synonym>
+              <Synonym lang="en">dJ257A7.3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135068">
+                <Source>Reactome</Source>
+                <Reference>Q9P0N9</Reference>
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+              <ExternalReference id="82680">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145979</Reference>
+              </ExternalReference>
+              <ExternalReference id="82678">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21066</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612655</Reference>
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+              <ExternalReference id="82679">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0N9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Arnold-Chiari malformation type I</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28513615[PMID]</SourceOfValidation>
+          <Gene id="21409">
+            <Name lang="en">dickkopf WNT signaling pathway inhibitor 1</Name>
+            <Symbol>DKK1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKK-1</Synonym>
+              <Synonym lang="en">SK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107984</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DKK1</Reference>
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+              <ExternalReference id="70802">
+                <Source>HGNC</Source>
+                <Reference>2891</Reference>
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+              <ExternalReference id="88002">
+                <Source>Reactome</Source>
+                <Reference>O94907</Reference>
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+              <ExternalReference id="70805">
+                <Source>SwissProt</Source>
+                <Reference>O94907</Reference>
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+                <GeneLocus>10q21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Upper thoracic spina bifida cystica</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16813">
+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100714</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MTHFD1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7432</Reference>
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+                <Source>OMIM</Source>
+                <Reference>172460</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P11586</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
+          <Gene id="20559">
+            <Name lang="en">VANGL planar cell polarity protein 2</Name>
+            <Symbol>VANGL2</Symbol>
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+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58375">
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+                <Reference>ENSG00000162738</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+                <Reference>Q9ULK5</Reference>
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+                <GeneLocus>1q23.2</GeneLocus>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164458</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+                <Reference>601397</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
+          <Gene id="16812">
+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57870">
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+                <Reference>ENSG00000173218</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>15512</Reference>
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+              <ExternalReference id="35059">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
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+            <Symbol>FUZ</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">FLJ22688</Synonym>
+              <Synonym lang="en">Fy</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000010361</Reference>
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+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
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+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
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+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+              <ExternalReference id="31476">
+                <Source>Genatlas</Source>
+                <Reference>MTHFR</Reference>
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+              <ExternalReference id="31475">
+                <Source>HGNC</Source>
+                <Reference>7436</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20198">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268766</ExpertLink>
+      <Name lang="en">Cervicothoracic spina bifida cystica</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
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+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57870">
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+                <Reference>ENSG00000173218</Reference>
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+              <ExternalReference id="35060">
+                <Source>Genatlas</Source>
+                <Reference>VANGL1</Reference>
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+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
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+              <ExternalReference id="35061">
+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
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+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000162738</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <GeneType id="25993">
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+              <Synonym lang="en">loop-tail-associated protein</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
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+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31473">
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+                <Reference>607093</Reference>
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+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="33540">
+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="57312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+              <ExternalReference id="31476">
+                <Source>Genatlas</Source>
+                <Reference>MTHFR</Reference>
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+              <ExternalReference id="31475">
+                <Source>HGNC</Source>
+                <Reference>7436</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
+          <Gene id="16812">
+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57870">
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+                <Reference>ENSG00000173218</Reference>
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+              <ExternalReference id="35060">
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+                <Reference>VANGL1</Reference>
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+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
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+              <ExternalReference id="35061">
+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
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+              <ExternalReference id="35059">
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+                <Reference>Q8TAA9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
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+                <GeneLocus>1p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Reference>ENSG00000164458</Reference>
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+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+              <ExternalReference id="27180">
+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
+          <Gene id="16813">
+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57635">
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+                <Reference>ENSG00000100714</Reference>
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+              <ExternalReference id="35066">
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+                <Reference>MTHFD1</Reference>
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+              <ExternalReference id="35068">
+                <Source>HGNC</Source>
+                <Reference>7432</Reference>
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+              <ExternalReference id="35067">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57636">
+                <Source>Reactome</Source>
+                <Reference>P11586</Reference>
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+                <Reference>P11586</Reference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="20196">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268758</ExpertLink>
+      <Name lang="en">Lumbosacral spina bifida cystica</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
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+            <Symbol>VANGL2</Symbol>
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+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000162738</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
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+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+              <ExternalReference id="54488">
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+                <Reference>600533</Reference>
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+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULK5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000010361</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100714</Reference>
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+              <ExternalReference id="35068">
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+                <Reference>7432</Reference>
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+              <ExternalReference id="57636">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P11586</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
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+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164458</Reference>
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+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+              <ExternalReference id="27180">
+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
+          <Gene id="16813">
+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100714</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7432</Reference>
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+                <Source>Reactome</Source>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+              <ExternalReference id="27180">
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+                <Reference>601397</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+                <Reference>P42898</Reference>
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+                <Reference>ENSG00000177000</Reference>
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+                <Reference>7436</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
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+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
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+              <Synonym lang="en">STB2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000173218</Reference>
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+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Total spina bifida cystica</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
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+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
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+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+              <ExternalReference id="54488">
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+                <Reference>600533</Reference>
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+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
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+          <DisorderGeneAssociationStatus id="17991">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000177000</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>26219</Reference>
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+                <Reference>610622</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16813">
+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100714</Reference>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
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+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
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+                <Reference>P42898</Reference>
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+                <Reference>ENSG00000177000</Reference>
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+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
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+                <Reference>Q8TAA9</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165617</Reference>
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+                <Reference>DACT1</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Phakomatosis pigmentokeratotica</Name>
+      <DisorderType id="21401">
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">HRas proto-oncogene, GTPase</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174775</Reference>
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+      <Name lang="en">Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">HAPO</Synonym>
+              <Synonym lang="en">JCAP</Synonym>
+              <Synonym lang="en">Jacobs camptodactyly-arthropathy-pericarditis syndrome</Synonym>
+              <Synonym lang="en">MSF</Synonym>
+              <Synonym lang="en">SZP</Synonym>
+              <Synonym lang="en">articular superficial zone protein</Synonym>
+              <Synonym lang="en">bG174L6.2</Synonym>
+              <Synonym lang="en">bG174L6.2 (MSF: megakaryocyte stimulating factor )</Synonym>
+              <Synonym lang="en">camptodactyly, arthropathy, coxa vara, pericarditis syndrome</Synonym>
+              <Synonym lang="en">lubricin</Synonym>
+              <Synonym lang="en">megakaryocyte stimulating factor</Synonym>
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+              <Synonym lang="en">KIAA1215</Synonym>
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+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
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+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57869">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164458</Reference>
+              </ExternalReference>
+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
+              </ExternalReference>
+              <ExternalReference id="27181">
+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
+              </ExternalReference>
+              <ExternalReference id="27180">
+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
+              </ExternalReference>
+              <ExternalReference id="32545">
+                <Source>SwissProt</Source>
+                <Reference>O15178</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7667">
+                <GeneLocus>6q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31473">
+                <Source>OMIM</Source>
+                <Reference>607093</Reference>
+              </ExternalReference>
+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
+              </ExternalReference>
+              <ExternalReference id="33540">
+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
+              </ExternalReference>
+              <ExternalReference id="57312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
+              </ExternalReference>
+              <ExternalReference id="31476">
+                <Source>Genatlas</Source>
+                <Reference>MTHFR</Reference>
+              </ExternalReference>
+              <ExternalReference id="31475">
+                <Source>HGNC</Source>
+                <Reference>7436</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24267">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
+          <Gene id="16812">
+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173218</Reference>
+              </ExternalReference>
+              <ExternalReference id="35060">
+                <Source>Genatlas</Source>
+                <Reference>VANGL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
+              </ExternalReference>
+              <ExternalReference id="35061">
+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
+              </ExternalReference>
+              <ExternalReference id="35059">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143855">
+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="39175">
+                <GeneLocus>1p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2589">
+      <OrphaCode>2855</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2855</ExpertLink>
+      <Name lang="en">Perrault syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28449065[PMID]</SourceOfValidation>
+          <Gene id="25484">
+            <Name lang="en">Era like 12S mitochondrial rRNA chaperone 1</Name>
+            <Symbol>ERAL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HERA-B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144589">
+                <Source>HGNC</Source>
+                <Reference>3424</Reference>
+              </ExternalReference>
+              <ExternalReference id="144590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132591</Reference>
+              </ExternalReference>
+              <ExternalReference id="144591">
+                <Source>SwissProt</Source>
+                <Reference>O75616</Reference>
+              </ExternalReference>
+              <ExternalReference id="144592">
+                <Source>OMIM</Source>
+                <Reference>607435</Reference>
+              </ExternalReference>
+              <ExternalReference id="144593">
+                <Source>Genatlas</Source>
+                <Reference>ERAL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="144594">
+                <Source>Reactome</Source>
+                <Reference>O75616</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40283">
+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20673864[PMID]</SourceOfValidation>
+          <Gene id="16225">
+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 4</Name>
+            <Symbol>HSD17B4</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">17-beta-HSD IV</Synonym>
+              <Synonym lang="en">17-beta-hydroxysteroid dehydrogenase 4</Synonym>
+              <Synonym lang="en">17beta-estradiol dehydrogenase type IV</Synonym>
+              <Synonym lang="en">3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase</Synonym>
+              <Synonym lang="en">D-3-hydroxyacyl-CoA dehydratase</Synonym>
+              <Synonym lang="en">D-bifunctional protein, peroxisomal</Synonym>
+              <Synonym lang="en">DBP</Synonym>
+              <Synonym lang="en">MFE-2</Synonym>
+              <Synonym lang="en">SDR8C1</Synonym>
+              <Synonym lang="en">beta-hydroxyacyl dehydrogenase</Synonym>
+              <Synonym lang="en">beta-keto-reductase</Synonym>
+              <Synonym lang="en">peroxisomal multifunctional protein 2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 8C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57010">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133835</Reference>
+              </ExternalReference>
+              <ExternalReference id="37158">
+                <Source>Genatlas</Source>
+                <Reference>HSD17B4</Reference>
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+              <ExternalReference id="30307">
+                <Source>HGNC</Source>
+                <Reference>5213</Reference>
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+              <ExternalReference id="30306">
+                <Source>OMIM</Source>
+                <Reference>601860</Reference>
+              </ExternalReference>
+              <ExternalReference id="57011">
+                <Source>Reactome</Source>
+                <Reference>P51659</Reference>
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+              <ExternalReference id="33289">
+                <Source>SwissProt</Source>
+                <Reference>P51659</Reference>
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+            <LocusList count="1">
+              <Locus id="26229">
+                <GeneLocus>5q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25355836[PMID]</SourceOfValidation>
+          <Gene id="17411">
+            <Name lang="en">twinkle mtDNA helicase</Name>
+            <Symbol>TWNK</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FLJ21832</Synonym>
+              <Synonym lang="en">PEO</Synonym>
+              <Synonym lang="en">PEO1</Synonym>
+              <Synonym lang="en">T7 helicase-related protein with intramitochondrial nucleoid localization</Synonym>
+              <Synonym lang="en">TWINKLE</Synonym>
+              <Synonym lang="en">TWINL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107815</Reference>
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+              <ExternalReference id="37622">
+                <Source>Genatlas</Source>
+                <Reference>C10orf2</Reference>
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+              <ExternalReference id="37624">
+                <Source>HGNC</Source>
+                <Reference>1160</Reference>
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+              <ExternalReference id="37623">
+                <Source>OMIM</Source>
+                <Reference>606075</Reference>
+              </ExternalReference>
+              <ExternalReference id="87982">
+                <Source>Reactome</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37625">
+                <Source>SwissProt</Source>
+                <Reference>Q96RR1</Reference>
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+            <LocusList count="1">
+              <Locus id="24221">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21464306[PMID]</SourceOfValidation>
+          <Gene id="20159">
+            <Name lang="en">histidyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>HARS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HARSR</Synonym>
+              <Synonym lang="en">HO3</Synonym>
+              <Synonym lang="en">histidine tRNA ligase 2, mitochondrial (putative)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112855</Reference>
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+              <ExternalReference id="51753">
+                <Source>Genatlas</Source>
+                <Reference>HARS2</Reference>
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+              <ExternalReference id="51751">
+                <Source>HGNC</Source>
+                <Reference>4817</Reference>
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+              <ExternalReference id="51752">
+                <Source>OMIM</Source>
+                <Reference>600783</Reference>
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+              <ExternalReference id="58295">
+                <Source>Reactome</Source>
+                <Reference>P49590</Reference>
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+              <ExternalReference id="51754">
+                <Source>SwissProt</Source>
+                <Reference>P49590</Reference>
+              </ExternalReference>
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+              <Locus id="11455">
+                <GeneLocus>5q31.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23541340[PMID]</SourceOfValidation>
+          <Gene id="22027">
+            <Name lang="en">caseinolytic mitochondrial matrix peptidase proteolytic subunit</Name>
+            <Symbol>CLPP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83775">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125656</Reference>
+              </ExternalReference>
+              <ExternalReference id="78713">
+                <Source>Genatlas</Source>
+                <Reference>CLPP</Reference>
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+              <ExternalReference id="78711">
+                <Source>HGNC</Source>
+                <Reference>2084</Reference>
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+              <ExternalReference id="78712">
+                <Source>OMIM</Source>
+                <Reference>601119</Reference>
+              </ExternalReference>
+              <ExternalReference id="78714">
+                <Source>SwissProt</Source>
+                <Reference>Q16740</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="12523">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23541342[PMID]</SourceOfValidation>
+          <Gene id="22028">
+            <Name lang="en">leucyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>LARS2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">'leucine tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">KIAA0028</Synonym>
+              <Synonym lang="en">LEURS</Synonym>
+              <Synonym lang="en">Leucine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">MGC26121</Synonym>
+              <Synonym lang="en">mtLeuRS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011376</Reference>
+              </ExternalReference>
+              <ExternalReference id="78718">
+                <Source>Genatlas</Source>
+                <Reference>LARS2</Reference>
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+              <ExternalReference id="78716">
+                <Source>HGNC</Source>
+                <Reference>17095</Reference>
+              </ExternalReference>
+              <ExternalReference id="78717">
+                <Source>OMIM</Source>
+                <Reference>604544</Reference>
+              </ExternalReference>
+              <ExternalReference id="83776">
+                <Source>Reactome</Source>
+                <Reference>Q15031</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15031</Reference>
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+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2588">
+      <OrphaCode>2854</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2854</ExpertLink>
+      <Name lang="en">Fuhrmann syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23922166[PMID]_23266637[PMID]</SourceOfValidation>
+          <Gene id="15729">
+            <Name lang="en">Wnt family member 7A</Name>
+            <Symbol>WNT7A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Wnt-7a</Synonym>
+              <Synonym lang="en">proto-oncogene Wnt7a protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58292">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154764</Reference>
+              </ExternalReference>
+              <ExternalReference id="27915">
+                <Source>Genatlas</Source>
+                <Reference>WNT7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="27913">
+                <Source>HGNC</Source>
+                <Reference>12786</Reference>
+              </ExternalReference>
+              <ExternalReference id="27912">
+                <Source>OMIM</Source>
+                <Reference>601570</Reference>
+              </ExternalReference>
+              <ExternalReference id="58293">
+                <Source>Reactome</Source>
+                <Reference>O00755</Reference>
+              </ExternalReference>
+              <ExternalReference id="32701">
+                <Source>SwissProt</Source>
+                <Reference>O00755</Reference>
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+                <GeneLocus>3p25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268388</ExpertLink>
+      <Name lang="en">Lumbosacral spina bifida aperta</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
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+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
+          <Gene id="20559">
+            <Name lang="en">VANGL planar cell polarity protein 2</Name>
+            <Symbol>VANGL2</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">'vang, van gogh-like 2'</Synonym>
+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162738</Reference>
+              </ExternalReference>
+              <ExternalReference id="54486">
+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
+              </ExternalReference>
+              <ExternalReference id="54488">
+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
+              </ExternalReference>
+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
+              </ExternalReference>
+              <ExternalReference id="54487">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULK5</Reference>
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+              <Locus id="18665">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
+              <Synonym lang="en">Fy</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
+              </ExternalReference>
+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
+              </ExternalReference>
+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
+              </ExternalReference>
+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+              <ExternalReference id="54862">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
+          <Gene id="16813">
+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57635">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100714</Reference>
+              </ExternalReference>
+              <ExternalReference id="35066">
+                <Source>Genatlas</Source>
+                <Reference>MTHFD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35068">
+                <Source>HGNC</Source>
+                <Reference>7432</Reference>
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+              <ExternalReference id="35067">
+                <Source>OMIM</Source>
+                <Reference>172460</Reference>
+              </ExternalReference>
+              <ExternalReference id="57636">
+                <Source>Reactome</Source>
+                <Reference>P11586</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11586</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22003">
+                <GeneLocus>14q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57869">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164458</Reference>
+              </ExternalReference>
+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
+              </ExternalReference>
+              <ExternalReference id="27181">
+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+              <ExternalReference id="27180">
+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
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+              <ExternalReference id="32545">
+                <Source>SwissProt</Source>
+                <Reference>O15178</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31473">
+                <Source>OMIM</Source>
+                <Reference>607093</Reference>
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+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="33540">
+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="57312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
+              </ExternalReference>
+              <ExternalReference id="31476">
+                <Source>Genatlas</Source>
+                <Reference>MTHFR</Reference>
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+              <ExternalReference id="31475">
+                <Source>HGNC</Source>
+                <Reference>7436</Reference>
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+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17409324[PMID]_19319979[PMID]</SourceOfValidation>
+          <Gene id="16812">
+            <Name lang="en">VANGL planar cell polarity protein 1</Name>
+            <Symbol>VANGL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STB2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173218</Reference>
+              </ExternalReference>
+              <ExternalReference id="35060">
+                <Source>Genatlas</Source>
+                <Reference>VANGL1</Reference>
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+              <ExternalReference id="35058">
+                <Source>HGNC</Source>
+                <Reference>15512</Reference>
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+              <ExternalReference id="35061">
+                <Source>OMIM</Source>
+                <Reference>610132</Reference>
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+              <ExternalReference id="35059">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAA9</Reference>
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+              <ExternalReference id="143855">
+                <Source>Reactome</Source>
+                <Reference>Q8TAA9</Reference>
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+            <LocusList count="1">
+              <Locus id="39175">
+                <GeneLocus>1p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="20190">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268392</ExpertLink>
+      <Name lang="en">Cervical spina bifida aperta</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
+          <Gene id="20559">
+            <Name lang="en">VANGL planar cell polarity protein 2</Name>
+            <Symbol>VANGL2</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">'vang, van gogh-like 2'</Synonym>
+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162738</Reference>
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+              <ExternalReference id="54486">
+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
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+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+              <ExternalReference id="54488">
+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+              <ExternalReference id="54487">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULK5</Reference>
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+              <Locus id="18665">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
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+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
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+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
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+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
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+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
+          <Gene id="16813">
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+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57635">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100714</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="35068">
+                <Source>HGNC</Source>
+                <Reference>7432</Reference>
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+              <ExternalReference id="35067">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57636">
+                <Source>Reactome</Source>
+                <Reference>P11586</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11586</Reference>
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+                <GeneLocus>14q23.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164458</Reference>
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+              <ExternalReference id="37371">
+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241680[PMID]</SourceOfValidation>
+          <Gene id="16475">
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+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>7436</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">FREAC3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054598</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11403040[PMID]_15621878[PMID]_16735991[PMID]</SourceOfValidation>
+          <Gene id="15838">
+            <Name lang="en">cytochrome P450 family 1 subfamily B member 1</Name>
+            <Symbol>CYP1B1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CP1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193636">
+                <Source>IUPHAR</Source>
+                <Reference>1320</Reference>
+              </ExternalReference>
+              <ExternalReference id="58296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138061</Reference>
+              </ExternalReference>
+              <ExternalReference id="28432">
+                <Source>Genatlas</Source>
+                <Reference>CYP1B1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28430">
+                <Source>HGNC</Source>
+                <Reference>2597</Reference>
+              </ExternalReference>
+              <ExternalReference id="28429">
+                <Source>OMIM</Source>
+                <Reference>601771</Reference>
+              </ExternalReference>
+              <ExternalReference id="58297">
+                <Source>Reactome</Source>
+                <Reference>Q16678</Reference>
+              </ExternalReference>
+              <ExternalReference id="32849">
+                <Source>SwissProt</Source>
+                <Reference>Q16678</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66681">
+                <GeneLocus>2p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10051017[PMID]</SourceOfValidation>
+          <Gene id="15096">
+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ARP1</Synonym>
+              <Synonym lang="en">Brx1</Synonym>
+              <Synonym lang="en">IGDS</Synonym>
+              <Synonym lang="en">Otlx2</Synonym>
+              <Synonym lang="en">RS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58301">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164093</Reference>
+              </ExternalReference>
+              <ExternalReference id="24889">
+                <Source>Genatlas</Source>
+                <Reference>PITX2</Reference>
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+              <ExternalReference id="24887">
+                <Source>HGNC</Source>
+                <Reference>9005</Reference>
+              </ExternalReference>
+              <ExternalReference id="24886">
+                <Source>OMIM</Source>
+                <Reference>601542</Reference>
+              </ExternalReference>
+              <ExternalReference id="32787">
+                <Source>SwissProt</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+              <ExternalReference id="126310">
+                <Source>Reactome</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8162071[PMID]_10441571[PMID]_15090434[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
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+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
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+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
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+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27218149[PMID]</SourceOfValidation>
+          <Gene id="16067">
+            <Name lang="en">forkhead box E3</Name>
+            <Symbol>FOXE3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FREAC8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59433">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186790</Reference>
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+              <ExternalReference id="29551">
+                <Source>Genatlas</Source>
+                <Reference>FOXE3</Reference>
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+              <ExternalReference id="29549">
+                <Source>HGNC</Source>
+                <Reference>3808</Reference>
+              </ExternalReference>
+              <ExternalReference id="29548">
+                <Source>OMIM</Source>
+                <Reference>601094</Reference>
+              </ExternalReference>
+              <ExternalReference id="33082">
+                <Source>SwissProt</Source>
+                <Reference>Q13461</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25655">
+                <GeneLocus>1p33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20191">
+      <OrphaCode>268397</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268397</ExpertLink>
+      <Name lang="en">Cervicothoracic spina bifida aperta</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20738329[PMID]</SourceOfValidation>
+          <Gene id="20559">
+            <Name lang="en">VANGL planar cell polarity protein 2</Name>
+            <Symbol>VANGL2</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">'vang, van gogh-like 2'</Synonym>
+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162738</Reference>
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+              <ExternalReference id="54486">
+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
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+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+              <ExternalReference id="54488">
+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+              <ExternalReference id="54487">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULK5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21840926[PMID]</SourceOfValidation>
+          <Gene id="20663">
+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
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+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
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+              <ExternalReference id="54861">
+                <Source>HGNC</Source>
+                <Reference>26219</Reference>
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+              <ExternalReference id="54863">
+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+              <ExternalReference id="97314">
+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+              <ExternalReference id="54862">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16552426[PMID]</SourceOfValidation>
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+            <Name lang="en">methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1</Name>
+            <Symbol>MTHFD1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100714</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P11586</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15449172[PMID]</SourceOfValidation>
+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164458</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115221</Reference>
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+                <Reference>6161</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P18564</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="23345">
+            <Name lang="en">lanosterol synthase</Name>
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+              <Synonym lang="en">OSC</Synonym>
+              <Synonym lang="en">Oxidosqualene-lanosterol cyclase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000160285</Reference>
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+                <Reference>2434</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600909</Reference>
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+              <ExternalReference id="96187">
+                <Source>Reactome</Source>
+                <Reference>P48449</Reference>
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+              <ExternalReference id="96186">
+                <Source>SwissProt</Source>
+                <Reference>P48449</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28054173[PMID]</SourceOfValidation>
+          <Gene id="25340">
+            <Name lang="en">alpha 2-HS glycoprotein</Name>
+            <Symbol>AHSG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">A2HS</Synonym>
+              <Synonym lang="en">FETUA</Synonym>
+              <Synonym lang="en">HSGA</Synonym>
+              <Synonym lang="en">fetuin A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="141490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145192</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138680</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02765</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AHSG</Reference>
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+                <Source>Reactome</Source>
+                <Reference>R-HSA-8848910</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Total spina bifida aperta</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">fuzzy planar cell polarity protein</Name>
+            <Symbol>FUZ</Symbol>
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+              <Synonym lang="en">CPLANE3</Synonym>
+              <Synonym lang="en">FLJ22688</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000010361</Reference>
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+              <ExternalReference id="54860">
+                <Source>Genatlas</Source>
+                <Reference>FUZ</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15574">
+            <Name lang="en">T-box transcription factor T</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>11226</Reference>
+              </ExternalReference>
+              <ExternalReference id="27038">
+                <Source>OMIM</Source>
+                <Reference>610844</Reference>
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+              <ExternalReference id="32515">
+                <Source>SwissProt</Source>
+                <Reference>Q96JI7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14417">
+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="20173">
+      <OrphaCode>268261</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268261</ExpertLink>
+      <Name lang="en">DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21031080[PMID]_25944381[PMID]_26677511[PMID]</SourceOfValidation>
+          <Gene id="20280">
+            <Name lang="en">dual specificity tyrosine phosphorylation regulated kinase 1A</Name>
+            <Symbol>DYRK1A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83204">
+                <Source>IUPHAR</Source>
+                <Reference>2009</Reference>
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+              <ExternalReference id="52200">
+                <Source>OMIM</Source>
+                <Reference>600855</Reference>
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+              <ExternalReference id="60257">
+                <Source>Reactome</Source>
+                <Reference>Q13627</Reference>
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+              <ExternalReference id="52202">
+                <Source>SwissProt</Source>
+                <Reference>Q13627</Reference>
+              </ExternalReference>
+              <ExternalReference id="60256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157540</Reference>
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+              <ExternalReference id="52201">
+                <Source>Genatlas</Source>
+                <Reference>DYRK1A</Reference>
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+              <ExternalReference id="52199">
+                <Source>HGNC</Source>
+                <Reference>3091</Reference>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2573">
+      <OrphaCode>2836</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2836</ExpertLink>
+      <Name lang="en">PEHO syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26486474[PMID]</SourceOfValidation>
+          <Gene id="20403">
+            <Name lang="en">kinesin family member 1A</Name>
+            <Symbol>KIF1A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">UNC104</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100333">
+                <Source>Reactome</Source>
+                <Reference>Q12756</Reference>
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+              <ExternalReference id="57990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130294</Reference>
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+              <ExternalReference id="53962">
+                <Source>Genatlas</Source>
+                <Reference>KIF1A</Reference>
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+              <ExternalReference id="53960">
+                <Source>HGNC</Source>
+                <Reference>888</Reference>
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+              <ExternalReference id="53961">
+                <Source>OMIM</Source>
+                <Reference>601255</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12756</Reference>
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+                <GeneLocus>2q37.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28335020[PMID]</SourceOfValidation>
+          <Gene id="25354">
+            <Name lang="en">zinc finger HIT-type containing 3</Name>
+            <Symbol>ZNHIT3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hit1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="142420">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000273611</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604500</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15649</Reference>
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+              <ExternalReference id="142423">
+                <Source>Genatlas</Source>
+                <Reference>ZNHIT3</Reference>
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+              <Locus id="37127">
+                <GeneLocus>17q12</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20169">
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+      <Name lang="en">Intermediate maple syrup urine disease</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15360">
+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit alpha</Name>
+            <Symbol>BCKDHA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MSU</Synonym>
+              <Synonym lang="en">maple syrup urine disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000248098</Reference>
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+              <ExternalReference id="26148">
+                <Source>Genatlas</Source>
+                <Reference>BCKDHA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>986</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608348</Reference>
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+              <ExternalReference id="57628">
+                <Source>Reactome</Source>
+                <Reference>P12694</Reference>
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+                <Reference>P12694</Reference>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
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+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit beta</Name>
+            <Symbol>BCKDHB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">2-oxoisovalerate dehydrogenase subunit beta, mitochondrial</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083123</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BCKDHB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>987</Reference>
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+                <Source>OMIM</Source>
+                <Reference>248611</Reference>
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+              <ExternalReference id="57630">
+                <Source>Reactome</Source>
+                <Reference>P21953</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21953</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15851">
+            <Name lang="en">dihydrolipoamide branched chain transacylase E2</Name>
+            <Symbol>DBT</Symbol>
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+              <Synonym lang="en">branched chain 2-oxo-acid dehydrogenase complex component E2</Synonym>
+              <Synonym lang="en">dihydrolipoyllysine-residue (2-methylpropanoyl)transferase</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137992</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>P11182</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23086801[PMID]</SourceOfValidation>
+          <Gene id="21863">
+            <Name lang="en">protein phosphatase, Mg2+/Mn2+ dependent 1K</Name>
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+              <Synonym lang="en">DKFZp761G058</Synonym>
+              <Synonym lang="en">PP2C-type mitochondrial phosphoprotein phosphatase</Synonym>
+              <Synonym lang="en">PP2Ckappa</Synonym>
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+              <Synonym lang="en">Protein phosphatase 2C kappa</Synonym>
+              <Synonym lang="en">branched-chain &amp;#945;-ketoacid dehydrogenase phosphatase</Synonym>
+              <Synonym lang="en">branched-chain a-ketoacid dehydrogenase phosphatase</Synonym>
+              <Synonym lang="en">hPTMP</Synonym>
+              <Synonym lang="en">protein phosphatase 2C kappa</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q8N3J5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163644</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PPM1K</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit alpha</Name>
+            <Symbol>BCKDHA</Symbol>
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+              <Synonym lang="en">MSU</Synonym>
+              <Synonym lang="en">maple syrup urine disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000248098</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BCKDHA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>986</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608348</Reference>
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+              <ExternalReference id="57628">
+                <Source>Reactome</Source>
+                <Reference>P12694</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P12694</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
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+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit beta</Name>
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+              <Synonym lang="en">2-oxoisovalerate dehydrogenase subunit beta, mitochondrial</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083123</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>987</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57630">
+                <Source>Reactome</Source>
+                <Reference>P21953</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21953</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15851">
+            <Name lang="en">dihydrolipoamide branched chain transacylase E2</Name>
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+              <Synonym lang="en">branched chain 2-oxo-acid dehydrogenase complex component E2</Synonym>
+              <Synonym lang="en">dihydrolipoyllysine-residue (2-methylpropanoyl)transferase</Synonym>
+              <Synonym lang="en">lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P11182</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137992</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DBT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2698</Reference>
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+              <ExternalReference id="28490">
+                <Source>OMIM</Source>
+                <Reference>248610</Reference>
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+              <ExternalReference id="57632">
+                <Source>Reactome</Source>
+                <Reference>P11182</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20171">
+      <OrphaCode>268184</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268184</ExpertLink>
+      <Name lang="en">Thiamine-responsive maple syrup urine disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15360">
+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit alpha</Name>
+            <Symbol>BCKDHA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MSU</Synonym>
+              <Synonym lang="en">maple syrup urine disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000248098</Reference>
+              </ExternalReference>
+              <ExternalReference id="26148">
+                <Source>Genatlas</Source>
+                <Reference>BCKDHA</Reference>
+              </ExternalReference>
+              <ExternalReference id="26146">
+                <Source>HGNC</Source>
+                <Reference>986</Reference>
+              </ExternalReference>
+              <ExternalReference id="26145">
+                <Source>OMIM</Source>
+                <Reference>608348</Reference>
+              </ExternalReference>
+              <ExternalReference id="57628">
+                <Source>Reactome</Source>
+                <Reference>P12694</Reference>
+              </ExternalReference>
+              <ExternalReference id="33917">
+                <Source>SwissProt</Source>
+                <Reference>P12694</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21007">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15361">
+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit beta</Name>
+            <Symbol>BCKDHB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">2-oxoisovalerate dehydrogenase subunit beta, mitochondrial</Synonym>
+              <Synonym lang="en">maple syrup urine disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083123</Reference>
+              </ExternalReference>
+              <ExternalReference id="26150">
+                <Source>Genatlas</Source>
+                <Reference>BCKDHB</Reference>
+              </ExternalReference>
+              <ExternalReference id="26152">
+                <Source>HGNC</Source>
+                <Reference>987</Reference>
+              </ExternalReference>
+              <ExternalReference id="26151">
+                <Source>OMIM</Source>
+                <Reference>248611</Reference>
+              </ExternalReference>
+              <ExternalReference id="57630">
+                <Source>Reactome</Source>
+                <Reference>P21953</Reference>
+              </ExternalReference>
+              <ExternalReference id="33918">
+                <Source>SwissProt</Source>
+                <Reference>P21953</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7273">
+                <GeneLocus>6q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15851">
+            <Name lang="en">dihydrolipoamide branched chain transacylase E2</Name>
+            <Symbol>DBT</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BCKAD-E2</Synonym>
+              <Synonym lang="en">BCKDH-E2</Synonym>
+              <Synonym lang="en">BCOADC-E2</Synonym>
+              <Synonym lang="en">branched chain 2-oxo-acid dehydrogenase complex component E2</Synonym>
+              <Synonym lang="en">dihydrolipoyllysine-residue (2-methylpropanoyl)transferase</Synonym>
+              <Synonym lang="en">lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32862">
+                <Source>SwissProt</Source>
+                <Reference>P11182</Reference>
+              </ExternalReference>
+              <ExternalReference id="57631">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137992</Reference>
+              </ExternalReference>
+              <ExternalReference id="28489">
+                <Source>Genatlas</Source>
+                <Reference>DBT</Reference>
+              </ExternalReference>
+              <ExternalReference id="28491">
+                <Source>HGNC</Source>
+                <Reference>2698</Reference>
+              </ExternalReference>
+              <ExternalReference id="28490">
+                <Source>OMIM</Source>
+                <Reference>248610</Reference>
+              </ExternalReference>
+              <ExternalReference id="57632">
+                <Source>Reactome</Source>
+                <Reference>P11182</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2570">
+      <OrphaCode>2833</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2833</ExpertLink>
+      <Name lang="en">Stiff skin syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20375004[PMID]</SourceOfValidation>
+          <Gene id="16032">
+            <Name lang="en">fibrillin 1</Name>
+            <Symbol>FBN1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MASS</Synonym>
+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57333">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
+              </ExternalReference>
+              <ExternalReference id="29363">
+                <Source>Genatlas</Source>
+                <Reference>FBN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29365">
+                <Source>HGNC</Source>
+                <Reference>3603</Reference>
+              </ExternalReference>
+              <ExternalReference id="29364">
+                <Source>OMIM</Source>
+                <Reference>134797</Reference>
+              </ExternalReference>
+              <ExternalReference id="57334">
+                <Source>Reactome</Source>
+                <Reference>P35555</Reference>
+              </ExternalReference>
+              <ExternalReference id="33046">
+                <Source>SwissProt</Source>
+                <Reference>P35555</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2571">
+      <OrphaCode>2834</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2834</ExpertLink>
+      <Name lang="en">Wrinkly skin syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18157129[PMID]</SourceOfValidation>
+          <Gene id="17303">
+            <Name lang="en">ATPase H+ transporting V0 subunit a2</Name>
+            <Symbol>ATP6V0A2</Symbol>
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+              <Synonym lang="en">ATP6N1D</Synonym>
+              <Synonym lang="en">ATP6a2</Synonym>
+              <Synonym lang="en">J6B7</Synonym>
+              <Synonym lang="en">RTF</Synonym>
+              <Synonym lang="en">Stv1</Synonym>
+              <Synonym lang="en">TJ6</Synonym>
+              <Synonym lang="en">TJ6M</Synonym>
+              <Synonym lang="en">TJ6s</Synonym>
+              <Synonym lang="en">V-ATPase subunit a2</Synonym>
+              <Synonym lang="en">V-type proton ATPase 116 kDa subunit a2</Synonym>
+              <Synonym lang="en">Vph1</Synonym>
+              <Synonym lang="en">a2</Synonym>
+              <Synonym lang="en">a2V</Synonym>
+              <Synonym lang="en">regeneration and tolerance factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58290">
+                <Source>Reactome</Source>
+                <Reference>Q9Y487</Reference>
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+              <ExternalReference id="36741">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y487</Reference>
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+              <ExternalReference id="58289">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185344</Reference>
+              </ExternalReference>
+              <ExternalReference id="36738">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V0A2</Reference>
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+              <ExternalReference id="36740">
+                <Source>HGNC</Source>
+                <Reference>18481</Reference>
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+              <ExternalReference id="36739">
+                <Source>OMIM</Source>
+                <Reference>611716</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>824</Reference>
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+            <LocusList count="1">
+              <Locus id="60251">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20170">
+      <OrphaCode>268173</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268173</ExpertLink>
+      <Name lang="en">Intermittent maple syrup urine disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15360">
+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit alpha</Name>
+            <Symbol>BCKDHA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MSU</Synonym>
+              <Synonym lang="en">maple syrup urine disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000248098</Reference>
+              </ExternalReference>
+              <ExternalReference id="26148">
+                <Source>Genatlas</Source>
+                <Reference>BCKDHA</Reference>
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+              <ExternalReference id="26146">
+                <Source>HGNC</Source>
+                <Reference>986</Reference>
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+              <ExternalReference id="26145">
+                <Source>OMIM</Source>
+                <Reference>608348</Reference>
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+              <ExternalReference id="57628">
+                <Source>Reactome</Source>
+                <Reference>P12694</Reference>
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+              <ExternalReference id="33917">
+                <Source>SwissProt</Source>
+                <Reference>P12694</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15361">
+            <Name lang="en">branched chain keto acid dehydrogenase E1 subunit beta</Name>
+            <Symbol>BCKDHB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">2-oxoisovalerate dehydrogenase subunit beta, mitochondrial</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083123</Reference>
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+              <ExternalReference id="26150">
+                <Source>Genatlas</Source>
+                <Reference>BCKDHB</Reference>
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+              <ExternalReference id="26152">
+                <Source>HGNC</Source>
+                <Reference>987</Reference>
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+              <ExternalReference id="26151">
+                <Source>OMIM</Source>
+                <Reference>248611</Reference>
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+              <ExternalReference id="57630">
+                <Source>Reactome</Source>
+                <Reference>P21953</Reference>
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+              <ExternalReference id="33918">
+                <Source>SwissProt</Source>
+                <Reference>P21953</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301495[PMID]</SourceOfValidation>
+          <Gene id="15851">
+            <Name lang="en">dihydrolipoamide branched chain transacylase E2</Name>
+            <Symbol>DBT</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">BCKDH-E2</Synonym>
+              <Synonym lang="en">BCOADC-E2</Synonym>
+              <Synonym lang="en">branched chain 2-oxo-acid dehydrogenase complex component E2</Synonym>
+              <Synonym lang="en">dihydrolipoyllysine-residue (2-methylpropanoyl)transferase</Synonym>
+              <Synonym lang="en">lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="32862">
+                <Source>SwissProt</Source>
+                <Reference>P11182</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137992</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DBT</Reference>
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+              <ExternalReference id="28491">
+                <Source>HGNC</Source>
+                <Reference>2698</Reference>
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+              <ExternalReference id="28490">
+                <Source>OMIM</Source>
+                <Reference>248610</Reference>
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+              <ExternalReference id="57632">
+                <Source>Reactome</Source>
+                <Reference>P11182</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Proteus-like syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
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+              <Synonym lang="en">PTEN1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P60484</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+      <Name lang="en">Pseudoachondroplasia</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301660[PMID]</SourceOfValidation>
+          <Gene id="15787">
+            <Name lang="en">cartilage oligomeric matrix protein</Name>
+            <Symbol>COMP</Symbol>
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+              <Synonym lang="en">THBS5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105664</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COMP</Reference>
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+                <Reference>2227</Reference>
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+                <Source>OMIM</Source>
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+                <Reference>P49747</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2656">
+      <OrphaCode>1848</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1848</ExpertLink>
+      <Name lang="en">Renal agenesis, bilateral</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34145744[PMID]</SourceOfValidation>
+          <Gene id="31365">
+            <Name lang="en">Wnt family member 9B</Name>
+            <Symbol>WNT9B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="205327">
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+                <Reference>12779</Reference>
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+              <ExternalReference id="205744">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158955</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602864</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100090[PMID]_29100091[PMID]</SourceOfValidation>
+          <Gene id="24575">
+            <Name lang="en">GREB1 like retinoic acid receptor coactivator</Name>
+            <Symbol>GREB1L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">C18orf6</Synonym>
+              <Synonym lang="en">FLJ13687</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>31042</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9C091</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141449</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GREB1L</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18252215[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000165731</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
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+                <Reference>164761</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24439109[PMID]</SourceOfValidation>
+          <Gene id="22671">
+            <Name lang="en">integrin subunit alpha 8</Name>
+            <Symbol>ITGA8</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22698282[PMID]</SourceOfValidation>
+          <Gene id="22817">
+            <Name lang="en">fibroblast growth factor 20</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000078579</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q9NP95</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <Gene id="31452">
+            <Name lang="en">GDNF family receptor alpha 1</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">homeobox A13</Name>
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+              <Locus id="16581">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24706814[PMID]</SourceOfValidation>
+          <Gene id="16372">
+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
+              </ExternalReference>
+              <ExternalReference id="31002">
+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
+              </ExternalReference>
+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
+              </ExternalReference>
+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+              <ExternalReference id="33437">
+                <Source>SwissProt</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24603">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2624">
+      <OrphaCode>2896</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2896</ExpertLink>
+      <Name lang="en">Pitt-Hopkins syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22934316[PMID]</SourceOfValidation>
+          <Gene id="17229">
+            <Name lang="en">transcription factor 4</Name>
+            <Symbol>TCF4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">E2-2</Synonym>
+              <Synonym lang="en">ITF2</Synonym>
+              <Synonym lang="en">SEF2-1B</Synonym>
+              <Synonym lang="en">SL3-3 enhancer factor 2</Synonym>
+              <Synonym lang="en">bHLHb19</Synonym>
+              <Synonym lang="en">class B basic helix-loop-helix protein 19</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196628</Reference>
+              </ExternalReference>
+              <ExternalReference id="36407">
+                <Source>Genatlas</Source>
+                <Reference>TCF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="36409">
+                <Source>HGNC</Source>
+                <Reference>11634</Reference>
+              </ExternalReference>
+              <ExternalReference id="36408">
+                <Source>OMIM</Source>
+                <Reference>602272</Reference>
+              </ExternalReference>
+              <ExternalReference id="58168">
+                <Source>Reactome</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+              <ExternalReference id="36410">
+                <Source>SwissProt</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25499">
+                <GeneLocus>18q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30450687[PMID]</SourceOfValidation>
+          <Gene id="17229">
+            <Name lang="en">transcription factor 4</Name>
+            <Symbol>TCF4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">E2-2</Synonym>
+              <Synonym lang="en">ITF2</Synonym>
+              <Synonym lang="en">SEF2-1B</Synonym>
+              <Synonym lang="en">SL3-3 enhancer factor 2</Synonym>
+              <Synonym lang="en">bHLHb19</Synonym>
+              <Synonym lang="en">class B basic helix-loop-helix protein 19</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196628</Reference>
+              </ExternalReference>
+              <ExternalReference id="36407">
+                <Source>Genatlas</Source>
+                <Reference>TCF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="36409">
+                <Source>HGNC</Source>
+                <Reference>11634</Reference>
+              </ExternalReference>
+              <ExternalReference id="36408">
+                <Source>OMIM</Source>
+                <Reference>602272</Reference>
+              </ExternalReference>
+              <ExternalReference id="58168">
+                <Source>Reactome</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+              <ExternalReference id="36410">
+                <Source>SwissProt</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25499">
+                <GeneLocus>18q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="2625">
+      <OrphaCode>2899</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2899</ExpertLink>
+      <Name lang="en">Brachyolmia-amelogenesis imperfecta syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25669657[PMID]</SourceOfValidation>
+          <Gene id="18363">
+            <Name lang="en">latent transforming growth factor beta binding protein 3</Name>
+            <Symbol>LTBP3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59917">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168056</Reference>
+              </ExternalReference>
+              <ExternalReference id="41769">
+                <Source>Genatlas</Source>
+                <Reference>LTBP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="41770">
+                <Source>HGNC</Source>
+                <Reference>6716</Reference>
+              </ExternalReference>
+              <ExternalReference id="41771">
+                <Source>OMIM</Source>
+                <Reference>602090</Reference>
+              </ExternalReference>
+              <ExternalReference id="83136">
+                <Source>Reactome</Source>
+                <Reference>Q9NS15</Reference>
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+              <ExternalReference id="41772">
+                <Source>SwissProt</Source>
+                <Reference>Q9NS15</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25957">
+                <GeneLocus>11q13.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20103">
+      <OrphaCode>264580</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=264580</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to liver phosphorylase kinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15086">
+            <Name lang="en">phosphorylase kinase regulatory subunit alpha 2</Name>
+            <Symbol>PHKA2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60513">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000044446</Reference>
+              </ExternalReference>
+              <ExternalReference id="24842">
+                <Source>Genatlas</Source>
+                <Reference>PHKA2</Reference>
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+              <ExternalReference id="35356">
+                <Source>HGNC</Source>
+                <Reference>8926</Reference>
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+              <ExternalReference id="43676">
+                <Source>OMIM</Source>
+                <Reference>300798</Reference>
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+              <ExternalReference id="60514">
+                <Source>Reactome</Source>
+                <Reference>P46019</Reference>
+              </ExternalReference>
+              <ExternalReference id="32777">
+                <Source>SwissProt</Source>
+                <Reference>P46019</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17404">
+            <Name lang="en">phosphorylase kinase catalytic subunit gamma 2</Name>
+            <Symbol>PHKG2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60515">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156873</Reference>
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+              <ExternalReference id="37295">
+                <Source>Genatlas</Source>
+                <Reference>PHKG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="37296">
+                <Source>HGNC</Source>
+                <Reference>8931</Reference>
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+              <ExternalReference id="83089">
+                <Source>IUPHAR</Source>
+                <Reference>2147</Reference>
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+              <ExternalReference id="37297">
+                <Source>OMIM</Source>
+                <Reference>172471</Reference>
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+              <ExternalReference id="60516">
+                <Source>Reactome</Source>
+                <Reference>P15735</Reference>
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+              <ExternalReference id="37298">
+                <Source>SwissProt</Source>
+                <Reference>P15735</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Orofaciodigital syndrome type 5</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23972372[PMID]</SourceOfValidation>
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+            <Name lang="en">DEAD-box helicase 59</Name>
+            <Symbol>DDX59</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZP564B1023</Synonym>
+              <Synonym lang="en">ZNHIT5</Synonym>
+              <Synonym lang="en">zinc finger HIT-type containing 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118197</Reference>
+              </ExternalReference>
+              <ExternalReference id="84143">
+                <Source>Genatlas</Source>
+                <Reference>DDX59</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>25360</Reference>
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+              <ExternalReference id="84142">
+                <Source>OMIM</Source>
+                <Reference>615464</Reference>
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+              <ExternalReference id="84144">
+                <Source>SwissProt</Source>
+                <Reference>Q5T1V6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=264675</ExpertLink>
+      <Name lang="en">Hereditary pulmonary alveolar proteinosis</Name>
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+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">colony stimulating factor 2 receptor subunit beta</Name>
+            <Symbol>CSF2RB</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD131</Synonym>
+              <Synonym lang="en">IL5RB</Synonym>
+              <Synonym lang="en">beta common cytokine receptor</Synonym>
+              <Synonym lang="en">beta-GM-CSF receptor</Synonym>
+              <Synonym lang="en">betaGMR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2306</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100368</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CSF2RB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2436</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138981</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">colony stimulating factor 2 receptor subunit alpha</Name>
+            <Symbol>CSF2RA</Symbol>
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+              <Synonym lang="en">CD116</Synonym>
+              <Synonym lang="en">alpha-GM-CSF receptor</Synonym>
+              <Synonym lang="en">alphaGMR</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198223</Reference>
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+                <Reference>CSF2RA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2435</Reference>
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+                <Source>OMIM</Source>
+                <Reference>306250</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P15509</Reference>
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+      <Name lang="en">Trismus-pseudocamptodactyly syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17041932[PMID]_18049072[PMID]</SourceOfValidation>
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+            <Name lang="en">myosin heavy chain 8</Name>
+            <Symbol>MYH8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MyHC-peri</Synonym>
+              <Synonym lang="en">MyHC-pn</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133020</Reference>
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+              <ExternalReference id="31596">
+                <Source>Genatlas</Source>
+                <Reference>MYH8</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>7578</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160741</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13535</Reference>
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+              <ExternalReference id="33567">
+                <Source>SwissProt</Source>
+                <Reference>P13535</Reference>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20328">
+      <OrphaCode>275777</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=275777</ExpertLink>
+      <Name lang="en">Heritable pulmonary arterial hypertension</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24951767[PMID]_24956016[PMID]_24936649[PMID]_22632830[PMID]_23298310[PMID]</SourceOfValidation>
+          <Gene id="15079">
+            <Name lang="en">activin A receptor like type 1</Name>
+            <Symbol>ACVRL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALK1</Synonym>
+              <Synonym lang="en">HHT</Synonym>
+              <Synonym lang="en">HHT2</Synonym>
+              <Synonym lang="en">activin receptor-like kinase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57040">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139567</Reference>
+              </ExternalReference>
+              <ExternalReference id="24802">
+                <Source>Genatlas</Source>
+                <Reference>ACVRL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24804">
+                <Source>HGNC</Source>
+                <Reference>175</Reference>
+              </ExternalReference>
+              <ExternalReference id="82733">
+                <Source>IUPHAR</Source>
+                <Reference>1784</Reference>
+              </ExternalReference>
+              <ExternalReference id="24803">
+                <Source>OMIM</Source>
+                <Reference>601284</Reference>
+              </ExternalReference>
+              <ExternalReference id="32357">
+                <Source>SwissProt</Source>
+                <Reference>P37023</Reference>
+              </ExternalReference>
+              <ExternalReference id="143863">
+                <Source>Reactome</Source>
+                <Reference>P37023</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39191">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19555857[PMID]_20301658[PMID]_24951767[PMID]</SourceOfValidation>
+          <Gene id="15374">
+            <Name lang="en">bone morphogenetic protein receptor type 2</Name>
+            <Symbol>BMPR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BMPR-II</Synonym>
+              <Synonym lang="en">BMPR3</Synonym>
+              <Synonym lang="en">BRK-3</Synonym>
+              <Synonym lang="en">T-ALK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204217</Reference>
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+              <ExternalReference id="26213">
+                <Source>Genatlas</Source>
+                <Reference>BMPR2</Reference>
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+              <ExternalReference id="26211">
+                <Source>HGNC</Source>
+                <Reference>1078</Reference>
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+              <ExternalReference id="82790">
+                <Source>IUPHAR</Source>
+                <Reference>1794</Reference>
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+              <ExternalReference id="26210">
+                <Source>OMIM</Source>
+                <Reference>600799</Reference>
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+              <ExternalReference id="58609">
+                <Source>Reactome</Source>
+                <Reference>Q13873</Reference>
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+              <ExternalReference id="33931">
+                <Source>SwissProt</Source>
+                <Reference>Q13873</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25931">
+                <GeneLocus>2q33.1-q33.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23502781[PMID]_23592887[PMID]</SourceOfValidation>
+          <Gene id="15588">
+            <Name lang="en">T-box transcription factor 4</Name>
+            <Symbol>TBX4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121075</Reference>
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+              <ExternalReference id="27247">
+                <Source>Genatlas</Source>
+                <Reference>TBX4</Reference>
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+              <ExternalReference id="27249">
+                <Source>HGNC</Source>
+                <Reference>11603</Reference>
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+              <ExternalReference id="27248">
+                <Source>OMIM</Source>
+                <Reference>601719</Reference>
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+              <ExternalReference id="32559">
+                <Source>SwissProt</Source>
+                <Reference>P57082</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="18625">
+                <GeneLocus>17q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24951767[PMID]_15687131[PMID]_15115879[PMID]_23298310[PMID]</SourceOfValidation>
+          <Gene id="15977">
+            <Name lang="en">endoglin</Name>
+            <Symbol>ENG</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD105</Synonym>
+              <Synonym lang="en">END</Synonym>
+              <Synonym lang="en">HHT1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="143888">
+                <Source>Reactome</Source>
+                <Reference>P17813</Reference>
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+              <ExternalReference id="193620">
+                <Source>IUPHAR</Source>
+                <Reference>2895</Reference>
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+              <ExternalReference id="57041">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106991</Reference>
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+              <ExternalReference id="29082">
+                <Source>Genatlas</Source>
+                <Reference>ENG</Reference>
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+              <ExternalReference id="29084">
+                <Source>HGNC</Source>
+                <Reference>3349</Reference>
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+              <ExternalReference id="29083">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P17813</Reference>
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+                <GeneLocus>9q34.11</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22474227[PMID]</SourceOfValidation>
+          <Gene id="17896">
+            <Name lang="en">caveolin 1</Name>
+            <Symbol>CAV1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57906">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105974</Reference>
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+              <ExternalReference id="40128">
+                <Source>Genatlas</Source>
+                <Reference>CAV1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1527</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601047</Reference>
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+              <ExternalReference id="57907">
+                <Source>Reactome</Source>
+                <Reference>Q03135</Reference>
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+              <ExternalReference id="40131">
+                <Source>SwissProt</Source>
+                <Reference>Q03135</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21920918[PMID]</SourceOfValidation>
+          <Gene id="18370">
+            <Name lang="en">SMAD family member 9</Name>
+            <Symbol>SMAD9</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58611">
+                <Source>Reactome</Source>
+                <Reference>O15198</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15198</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120693</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SMAD9</Reference>
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+                <Source>HGNC</Source>
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+                <GeneLocus>13q13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23883380[PMID]_24951767[PMID]</SourceOfValidation>
+          <Gene id="22261">
+            <Name lang="en">potassium two pore domain channel subfamily K member 3</Name>
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+              <Synonym lang="en">TASK</Synonym>
+              <Synonym lang="en">TASK-1</Synonym>
+              <Synonym lang="en">TASK1</Synonym>
+              <Synonym lang="en">TWIK-related acid-sensitive K+ 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171303</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>515</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83952">
+                <Source>Reactome</Source>
+                <Reference>O14649</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25512148[PMID]</SourceOfValidation>
+          <Gene id="22632">
+            <Name lang="en">eukaryotic translation initiation factor 2 alpha kinase 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128829</Reference>
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+            <Name lang="en">bone morphogenetic protein receptor type 2</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</Name>
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+            <Name lang="en">patatin like phospholipase domain containing 6</Name>
+            <Symbol>PNPLA6</Symbol>
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+              <Synonym lang="en">SPG39</Synonym>
+              <Synonym lang="en">SWS</Synonym>
+              <Synonym lang="en">iPLA2delta</Synonym>
+              <Synonym lang="en">neuropathy target esterase</Synonym>
+              <Synonym lang="en">sws</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8IY17</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>16268</Reference>
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+                <Reference>603197</Reference>
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+                <Reference>Q8IY17</Reference>
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+              <ExternalReference id="60076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000032444</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3366</ExpertLink>
+      <Name lang="en">Non-syndromic metopic craniosynostosis</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11173846[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Reference>136350</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+                <Reference>P11362</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21931569[PMID]</SourceOfValidation>
+          <Gene id="18924">
+            <Name lang="en">FRAS1 related extracellular matrix 1</Name>
+            <Symbol>FREM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C9orf143</Synonym>
+              <Synonym lang="en">C9orf145</Synonym>
+              <Synonym lang="en">DKFZp686M16108</Synonym>
+              <Synonym lang="en">FLJ25461</Synonym>
+              <Synonym lang="en">TILRR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164946</Reference>
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+              <ExternalReference id="44062">
+                <Source>Genatlas</Source>
+                <Reference>FREM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23399</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608944</Reference>
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+              <ExternalReference id="44065">
+                <Source>SwissProt</Source>
+                <Reference>Q5H8C1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3007">
+      <OrphaCode>3412</OrphaCode>
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+      <Name lang="en">VACTERL with hydrocephalus</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21910217[PMID]</SourceOfValidation>
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+            <Name lang="en">FA complementation group B</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57419">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181544</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FANCB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3583</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NB91</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Multiple endocrine neoplasia type 4</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cyclin dependent kinase inhibitor 1B</Name>
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+              <Synonym lang="en">KIP1</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111276</Reference>
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+      <Name lang="en">Bile acid CoA ligase deficiency and defective amidation</Name>
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+              <Synonym lang="en">fatty-acid-Coenzyme A ligase, very long-chain 3</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>28337</Reference>
+              </ExternalReference>
+              <ExternalReference id="54955">
+                <Source>OMIM</Source>
+                <Reference>614260</Reference>
+              </ExternalReference>
+              <ExternalReference id="54957">
+                <Source>SwissProt</Source>
+                <Reference>Q96LT7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21549">
+                <GeneLocus>9p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25803835[PMID]</SourceOfValidation>
+          <Gene id="21615">
+            <Name lang="en">TANK binding kinase 1</Name>
+            <Symbol>TBK1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NAK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83593">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183735</Reference>
+              </ExternalReference>
+              <ExternalReference id="75302">
+                <Source>Genatlas</Source>
+                <Reference>TBK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="75300">
+                <Source>HGNC</Source>
+                <Reference>11584</Reference>
+              </ExternalReference>
+              <ExternalReference id="83594">
+                <Source>IUPHAR</Source>
+                <Reference>2237</Reference>
+              </ExternalReference>
+              <ExternalReference id="75301">
+                <Source>OMIM</Source>
+                <Reference>604834</Reference>
+              </ExternalReference>
+              <ExternalReference id="83592">
+                <Source>Reactome</Source>
+                <Reference>Q9UHD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="75303">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHD2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12267">
+                <GeneLocus>12q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24934289[PMID]</SourceOfValidation>
+          <Gene id="22968">
+            <Name lang="en">coiled-coil-helix-coiled-coil-helix domain containing 10</Name>
+            <Symbol>CHCHD10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MIX17 homolog A</Synonym>
+              <Synonym lang="en">MIX17A</Synonym>
+              <Synonym lang="en">N27C7-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126440">
+                <Source>Reactome</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+              <ExternalReference id="91952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000250479</Reference>
+              </ExternalReference>
+              <ExternalReference id="91707">
+                <Source>Genatlas</Source>
+                <Reference>CHCHD10</Reference>
+              </ExternalReference>
+              <ExternalReference id="91705">
+                <Source>HGNC</Source>
+                <Reference>15559</Reference>
+              </ExternalReference>
+              <ExternalReference id="91706">
+                <Source>OMIM</Source>
+                <Reference>615903</Reference>
+              </ExternalReference>
+              <ExternalReference id="91708">
+                <Source>SwissProt</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26863">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2997">
+      <OrphaCode>3384</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3384</ExpertLink>
+      <Name lang="en">Truncus arteriosus</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15649947[PMID]_25195019[PMID]</SourceOfValidation>
+          <Gene id="17359">
+            <Name lang="en">NK2 homeobox 6</Name>
+            <Symbol>NKX2-6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CSX2</Synonym>
+              <Synonym lang="en">NKX4-2</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="37018">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-6</Reference>
+              </ExternalReference>
+              <ExternalReference id="37019">
+                <Source>HGNC</Source>
+                <Reference>32940</Reference>
+              </ExternalReference>
+              <ExternalReference id="37591">
+                <Source>OMIM</Source>
+                <Reference>611770</Reference>
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+              <ExternalReference id="37021">
+                <Source>SwissProt</Source>
+                <Reference>A6NCS4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180053</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>8p21.2</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24254849[PMID]</SourceOfValidation>
+          <Gene id="22582">
+            <Name lang="en">plexin D1</Name>
+            <Symbol>PLXND1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0620</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84650">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004399</Reference>
+              </ExternalReference>
+              <ExternalReference id="84524">
+                <Source>Genatlas</Source>
+                <Reference>PLXND1</Reference>
+              </ExternalReference>
+              <ExternalReference id="84522">
+                <Source>HGNC</Source>
+                <Reference>9107</Reference>
+              </ExternalReference>
+              <ExternalReference id="84523">
+                <Source>OMIM</Source>
+                <Reference>604282</Reference>
+              </ExternalReference>
+              <ExternalReference id="84649">
+                <Source>Reactome</Source>
+                <Reference>Q9Y4D7</Reference>
+              </ExternalReference>
+              <ExternalReference id="84525">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4D7</Reference>
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+            <LocusList count="1">
+              <Locus id="25705">
+                <GeneLocus>3q22.1</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="20340">
+      <OrphaCode>275864</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=275864</ExpertLink>
+      <Name lang="en">Behavioral variant of frontotemporal dementia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27543298[PMID]_21614538[PMID]</SourceOfValidation>
+          <Gene id="25303">
+            <Name lang="en">transmembrane protein 106B</Name>
+            <Symbol>TMEM106B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11273</Synonym>
+              <Synonym lang="en">MGC33727</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="141137">
+                <Source>HGNC</Source>
+                <Reference>22407</Reference>
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+              <ExternalReference id="141138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106460</Reference>
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+              <ExternalReference id="141139">
+                <Source>OMIM</Source>
+                <Reference>613413</Reference>
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+              <ExternalReference id="141140">
+                <Source>Genatlas</Source>
+                <Reference>TMEM106B</Reference>
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+              <ExternalReference id="141141">
+                <Source>SwissProt</Source>
+                <Reference>Q9NUM4</Reference>
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+              <Locus id="36899">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11094121[PMID]</SourceOfValidation>
+          <Gene id="15160">
+            <Name lang="en">presenilin 1</Name>
+            <Symbol>PSEN1</Symbol>
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+              <Synonym lang="en">FAD</Synonym>
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+              <Synonym lang="en">S182</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57409">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080815</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PSEN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9508</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2402</Reference>
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+                <Source>OMIM</Source>
+                <Reference>104311</Reference>
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+              <ExternalReference id="57410">
+                <Source>Reactome</Source>
+                <Reference>P49768</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49768</Reference>
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+              <Locus id="23391">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22355793[PMID]_23597030[PMID]</SourceOfValidation>
+          <Gene id="15446">
+            <Name lang="en">charged multivesicular body protein 2B</Name>
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+              <Synonym lang="en">DKFZP564O123</Synonym>
+              <Synonym lang="en">VPS2 homolog B (S. cerevisiae)</Synonym>
+              <Synonym lang="en">VPS2B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58549">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083937</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CHMP2B</Reference>
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+              <ExternalReference id="26558">
+                <Source>HGNC</Source>
+                <Reference>24537</Reference>
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+              <ExternalReference id="26557">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UQN3</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24139279[PMID]_25042114[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58272">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
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+                <Reference>17761</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
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+                <Reference>Q9NZC2</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15706">
+            <Name lang="en">valosin containing protein</Name>
+            <Symbol>VCP</Symbol>
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+              <Synonym lang="en">CDC48</Synonym>
+              <Synonym lang="en">IBMPFD</Synonym>
+              <Synonym lang="en">TERA</Synonym>
+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56814">
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+                <Reference>ENSG00000165280</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VCP</Reference>
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+                <Reference>12666</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P55072</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P55072</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16379">
+            <Name lang="en">microtubule associated protein tau</Name>
+            <Symbol>MAPT</Symbol>
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+              <Synonym lang="en">FTDP-17</Synonym>
+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
+              <Synonym lang="en">MGC138549</Synonym>
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+              <Synonym lang="en">MTBT1</Synonym>
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+              <Synonym lang="en">TAU</Synonym>
+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186868</Reference>
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+                <Reference>MAPT</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P10636</Reference>
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+              <ExternalReference id="33443">
+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]_23392204[PMID]</SourceOfValidation>
+          <Gene id="17726">
+            <Name lang="en">granulin precursor</Name>
+            <Symbol>GRN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLN11</Synonym>
+              <Synonym lang="en">PCDGF</Synonym>
+              <Synonym lang="en">PGRN</Synonym>
+              <Synonym lang="en">progranulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126377">
+                <Source>Reactome</Source>
+                <Reference>P28799</Reference>
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+              <ExternalReference id="60525">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000030582</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GRN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4601</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138945</Reference>
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+              <ExternalReference id="39254">
+                <Source>SwissProt</Source>
+                <Reference>P28799</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26739">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24042580[PMID]</SourceOfValidation>
+          <Gene id="20429">
+            <Name lang="en">sequestosome 1</Name>
+            <Symbol>SQSTM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">A170</Synonym>
+              <Synonym lang="en">autophagy receptor p62</Synonym>
+              <Synonym lang="en">p60</Synonym>
+              <Synonym lang="en">p62</Synonym>
+              <Synonym lang="en">p62B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60546">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161011</Reference>
+              </ExternalReference>
+              <ExternalReference id="54031">
+                <Source>Genatlas</Source>
+                <Reference>SQSTM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54029">
+                <Source>HGNC</Source>
+                <Reference>11280</Reference>
+              </ExternalReference>
+              <ExternalReference id="54030">
+                <Source>OMIM</Source>
+                <Reference>601530</Reference>
+              </ExternalReference>
+              <ExternalReference id="60547">
+                <Source>Reactome</Source>
+                <Reference>Q13501</Reference>
+              </ExternalReference>
+              <ExternalReference id="54032">
+                <Source>SwissProt</Source>
+                <Reference>Q13501</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>5q35.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]_23392204[PMID]</SourceOfValidation>
+          <Gene id="20676">
+            <Name lang="en">C9orf72-SMCR8 complex subunit</Name>
+            <Symbol>C9ORF72</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DENND9</Synonym>
+              <Synonym lang="en">DENNL72</Synonym>
+              <Synonym lang="en">MGC23980</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147894</Reference>
+              </ExternalReference>
+              <ExternalReference id="54956">
+                <Source>Genatlas</Source>
+                <Reference>C9orf72</Reference>
+              </ExternalReference>
+              <ExternalReference id="54954">
+                <Source>HGNC</Source>
+                <Reference>28337</Reference>
+              </ExternalReference>
+              <ExternalReference id="54955">
+                <Source>OMIM</Source>
+                <Reference>614260</Reference>
+              </ExternalReference>
+              <ExternalReference id="54957">
+                <Source>SwissProt</Source>
+                <Reference>Q96LT7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21549">
+                <GeneLocus>9p21.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2954">
+      <OrphaCode>3329</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3329</ExpertLink>
+      <Name lang="en">Tibial aplasia-ectrodactyly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20801">
+            <Name lang="en">basic helix-loop-helix family member a9</Name>
+            <Symbol>BHLHA9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BHLHF42</Synonym>
+              <Synonym lang="en">Fingerin</Synonym>
+              <Synonym lang="en">bHLHa9</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60890">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205899</Reference>
+              </ExternalReference>
+              <ExternalReference id="82593">
+                <Source>Genatlas</Source>
+                <Reference>BHLHA9</Reference>
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+              <ExternalReference id="60888">
+                <Source>HGNC</Source>
+                <Reference>35126</Reference>
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+              <ExternalReference id="82592">
+                <Source>OMIM</Source>
+                <Reference>615416</Reference>
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+              <ExternalReference id="60889">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTU4</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="2949">
+      <OrphaCode>3322</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3322</ExpertLink>
+      <Name lang="en">Hoyeraal-Hreidarsson syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15869">
+            <Name lang="en">dyskerin pseudouridine synthase 1</Name>
+            <Symbol>DKC1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Cbf5</Synonym>
+              <Synonym lang="en">H/ACA ribonucleoprotein complex subunit 4</Synonym>
+              <Synonym lang="en">NAP57</Synonym>
+              <Synonym lang="en">NOLA4</Synonym>
+              <Synonym lang="en">XAP101</Synonym>
+              <Synonym lang="en">dyskerin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57319">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130826</Reference>
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+              <ExternalReference id="28576">
+                <Source>Genatlas</Source>
+                <Reference>DKC1</Reference>
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+              <ExternalReference id="28574">
+                <Source>HGNC</Source>
+                <Reference>2890</Reference>
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+              <ExternalReference id="28573">
+                <Source>OMIM</Source>
+                <Reference>300126</Reference>
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+              <ExternalReference id="57320">
+                <Source>Reactome</Source>
+                <Reference>O60832</Reference>
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+              <ExternalReference id="32880">
+                <Source>SwissProt</Source>
+                <Reference>O60832</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17785587[PMID]_23335200[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
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+              <ExternalReference id="34945">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14746</Reference>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092330</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">TIN2 interacting protein 1</Synonym>
+              <Synonym lang="en">Tint1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">vascular endothelial growth factor receptor 1</Synonym>
+              <Synonym lang="en">vascular permeability factor receptor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000165730</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22437503[PMID]</SourceOfValidation>
+          <Gene id="23277">
+            <Name lang="en">corin, serine peptidase</Name>
+            <Symbol>CORIN</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ATC2</Synonym>
+              <Synonym lang="en">CRN</Synonym>
+              <Synonym lang="en">Lrp4</Synonym>
+              <Synonym lang="en">PRSC</Synonym>
+              <Synonym lang="en">TMPRSS10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145244</Reference>
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+              <ExternalReference id="95963">
+                <Source>Genatlas</Source>
+                <Reference>CORIN</Reference>
+              </ExternalReference>
+              <ExternalReference id="95961">
+                <Source>HGNC</Source>
+                <Reference>19012</Reference>
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+              <ExternalReference id="95962">
+                <Source>OMIM</Source>
+                <Reference>605236</Reference>
+              </ExternalReference>
+              <ExternalReference id="98110">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Q5</Reference>
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+              <ExternalReference id="95964">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Q5</Reference>
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+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20315">
+      <OrphaCode>275517</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=275517</ExpertLink>
+      <Name lang="en">Autoimmune lymphoproliferative syndrome with recurrent viral infections</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21447005[PMID]_16446975[PMID]_20301287[PMID]</SourceOfValidation>
+          <Gene id="16839">
+            <Name lang="en">caspase 8</Name>
+            <Symbol>CASP8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Casp-8</Synonym>
+              <Synonym lang="en">FLICE</Synonym>
+              <Synonym lang="en">MACH</Synonym>
+              <Synonym lang="en">MCH5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064012</Reference>
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+              <ExternalReference id="35201">
+                <Source>Genatlas</Source>
+                <Reference>CASP8</Reference>
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+              <ExternalReference id="35200">
+                <Source>HGNC</Source>
+                <Reference>1509</Reference>
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+              <ExternalReference id="83041">
+                <Source>IUPHAR</Source>
+                <Reference>1624</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601763</Reference>
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+              <ExternalReference id="58617">
+                <Source>Reactome</Source>
+                <Reference>Q14790</Reference>
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+              <ExternalReference id="35202">
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+                <Reference>Q14790</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>3352</OrphaCode>
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+      <Name lang="en">Tricho-dento-osseous syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18492670[PMID]_22969805[PMID]</SourceOfValidation>
+          <Gene id="15874">
+            <Name lang="en">distal-less homeobox 3</Name>
+            <Symbol>DLX3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064195</Reference>
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+              <ExternalReference id="28596">
+                <Source>Genatlas</Source>
+                <Reference>DLX3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2916</Reference>
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+              <ExternalReference id="28597">
+                <Source>OMIM</Source>
+                <Reference>600525</Reference>
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+              <ExternalReference id="32885">
+                <Source>SwissProt</Source>
+                <Reference>O60479</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2965">
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+      <Name lang="en">Arterial tortuosity syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 2 member 10</Name>
+            <Symbol>SLC2A10</Symbol>
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+              <Synonym lang="en">GLUT10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58369">
+                <Source>Reactome</Source>
+                <Reference>O95528</Reference>
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+              <ExternalReference id="33876">
+                <Source>SwissProt</Source>
+                <Reference>O95528</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197496</Reference>
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+      <Name lang="en">Toriello-Lacassie-Droste syndrome</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Helicase-like protein 2</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital amegakaryocytic thrombocytopenia</Name>
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+              <Synonym lang="en">megakaryocyte colony-stimulating factor</Synonym>
+              <Synonym lang="en">megakaryocyte growth and development factor</Synonym>
+              <Synonym lang="en">megakaryocyte stimulating factor</Synonym>
+              <Synonym lang="en">myeloproliferative leukemia virus oncogene ligand</Synonym>
+              <Synonym lang="en">prepro-thrombopoietin</Synonym>
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+                <Source>Reactome</Source>
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+            <Symbol>MPL</Symbol>
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+                <Reference>7217</Reference>
+              </ExternalReference>
+              <ExternalReference id="83001">
+                <Source>IUPHAR</Source>
+                <Reference>1722</Reference>
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+              <ExternalReference id="31403">
+                <Source>OMIM</Source>
+                <Reference>159530</Reference>
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+              <ExternalReference id="58387">
+                <Source>Reactome</Source>
+                <Reference>P40238</Reference>
+              </ExternalReference>
+              <ExternalReference id="33525">
+                <Source>SwissProt</Source>
+                <Reference>P40238</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p34.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3052">
+      <OrphaCode>3473</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3473</ExpertLink>
+      <Name lang="en">Zimmermann-Laband syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31155282[PMID]</SourceOfValidation>
+          <Gene id="25422">
+            <Name lang="en">potassium calcium-activated channel subfamily N member 3</Name>
+            <Symbol>KCNN3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KCa2.3</Synonym>
+              <Synonym lang="en">SKCA3</Synonym>
+              <Synonym lang="en">hSK3</Synonym>
+              <Synonym lang="en">small conductance calcium-activated potassium channel 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="147469">
+                <Source>IUPHAR</Source>
+                <Reference>383</Reference>
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+              <ExternalReference id="143675">
+                <Source>HGNC</Source>
+                <Reference>6292</Reference>
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+              <ExternalReference id="143676">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143603</Reference>
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+              <ExternalReference id="143677">
+                <Source>SwissProt</Source>
+                <Reference>Q9UGI6</Reference>
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+              <ExternalReference id="143678">
+                <Source>OMIM</Source>
+                <Reference>602983</Reference>
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+              <ExternalReference id="143679">
+                <Source>Genatlas</Source>
+                <Reference>KCNN3</Reference>
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+              <ExternalReference id="143680">
+                <Source>Reactome</Source>
+                <Reference>Q9UGI6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25915598[PMID]</SourceOfValidation>
+          <Gene id="22990">
+            <Name lang="en">ATPase H+ transporting V1 subunit B2</Name>
+            <Symbol>ATP6V1B2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HO57</Synonym>
+              <Synonym lang="en">V-ATPase subunit B2</Synonym>
+              <Synonym lang="en">VATB</Synonym>
+              <Synonym lang="en">Vma2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="94436">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147416</Reference>
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+              <ExternalReference id="94434">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V1B2</Reference>
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+              <ExternalReference id="94432">
+                <Source>HGNC</Source>
+                <Reference>854</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606939</Reference>
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+              <ExternalReference id="94622">
+                <Source>Reactome</Source>
+                <Reference>P21281</Reference>
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+              <ExternalReference id="94435">
+                <Source>SwissProt</Source>
+                <Reference>P21281</Reference>
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+              <ExternalReference id="190600">
+                <Source>IUPHAR</Source>
+                <Reference>812</Reference>
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+                <GeneLocus>8p21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25915598[PMID]</SourceOfValidation>
+          <Gene id="23250">
+            <Name lang="en">potassium voltage-gated channel subfamily H member 1</Name>
+            <Symbol>KCNH1</Symbol>
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+              <Synonym lang="en">Kv10.1</Synonym>
+              <Synonym lang="en">eag</Synonym>
+              <Synonym lang="en">eag1</Synonym>
+              <Synonym lang="en">ether-a-go-go 1</Synonym>
+              <Synonym lang="en">h-eag</Synonym>
+              <Synonym lang="en">hEAG</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95735">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143473</Reference>
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+              <ExternalReference id="95732">
+                <Source>Genatlas</Source>
+                <Reference>KCNH1</Reference>
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+              <ExternalReference id="95731">
+                <Source>HGNC</Source>
+                <Reference>6250</Reference>
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+              <ExternalReference id="95736">
+                <Source>IUPHAR</Source>
+                <Reference>570</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603305</Reference>
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+              <ExternalReference id="95734">
+                <Source>Reactome</Source>
+                <Reference>O95259</Reference>
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+              <ExternalReference id="95733">
+                <Source>SwissProt</Source>
+                <Reference>O95259</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+        <Name lang="en">Disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147099</Reference>
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+              <ExternalReference id="56047">
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+                <Reference>2619</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BY41</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]</SourceOfValidation>
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+            <Name lang="en">LAS1 like ribosome biogenesis factor</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">MEFV innate immuity regulator, pyrin</Name>
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+                <Reference>615951</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HCJ5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>268973</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=268973</ExpertLink>
+      <Name lang="en">Isolated focal cortical dysplasia type Ia</Name>
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+        <Name lang="en">Histopathological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>29679388[PMID]</SourceOfValidation>
+          <Gene id="22235">
+            <Name lang="en">solute carrier family 35 member A2</Name>
+            <Symbol>SLC35A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">UGAT</Synonym>
+              <Synonym lang="en">UGT</Synonym>
+              <Synonym lang="en">UGT1</Synonym>
+              <Synonym lang="en">UGT2</Synonym>
+              <Synonym lang="en">UGTL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83913">
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+                <Reference>ENSG00000102100</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Isolated focal cortical dysplasia type IIb</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 160</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57593">
+                <Source>Reactome</Source>
+                <Reference>P49815</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="27635">
+                <Source>Genatlas</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25799227[PMID]</SourceOfValidation>
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+              <Synonym lang="en">dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)</Synonym>
+              <Synonym lang="en">mammalian target of rapamycin</Synonym>
+              <Synonym lang="en">rapamycin and FKBP12 target 1</Synonym>
+              <Synonym lang="en">rapamycin associated protein FRAP2</Synonym>
+              <Synonym lang="en">rapamycin target protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198793</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2109</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601231</Reference>
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+              <ExternalReference id="95700">
+                <Source>Reactome</Source>
+                <Reference>P42345</Reference>
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+                <Reference>P42345</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22460196[PMID]_23342054[PMID]</SourceOfValidation>
+          <Gene id="15481">
+            <Name lang="en">autoimmune regulator</Name>
+            <Symbol>AIRE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">APS1</Synonym>
+              <Synonym lang="en">PGA1</Synonym>
+              <Synonym lang="en">autoimmune polyendocrinopathy candidiasis ectodermal dystrophy</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160224</Reference>
+              </ExternalReference>
+              <ExternalReference id="26737">
+                <Source>Genatlas</Source>
+                <Reference>AIRE</Reference>
+              </ExternalReference>
+              <ExternalReference id="26735">
+                <Source>HGNC</Source>
+                <Reference>360</Reference>
+              </ExternalReference>
+              <ExternalReference id="26734">
+                <Source>OMIM</Source>
+                <Reference>607358</Reference>
+              </ExternalReference>
+              <ExternalReference id="32452">
+                <Source>SwissProt</Source>
+                <Reference>O43918</Reference>
+              </ExternalReference>
+              <ExternalReference id="143379">
+                <Source>Reactome</Source>
+                <Reference>O43918</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38475">
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="3033">
+      <OrphaCode>3449</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3449</ExpertLink>
+      <Name lang="en">Weill-Marchesani syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301293[PMID]</SourceOfValidation>
+          <Gene id="15081">
+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 10</Name>
+            <Symbol>ADAMTS10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ADAM-TS10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193572">
+                <Source>IUPHAR</Source>
+                <Reference>1683</Reference>
+              </ExternalReference>
+              <ExternalReference id="58380">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142303</Reference>
+              </ExternalReference>
+              <ExternalReference id="24812">
+                <Source>Genatlas</Source>
+                <Reference>ADAMTS10</Reference>
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+              <ExternalReference id="24814">
+                <Source>HGNC</Source>
+                <Reference>13201</Reference>
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+              <ExternalReference id="24813">
+                <Source>OMIM</Source>
+                <Reference>608990</Reference>
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+              <ExternalReference id="87955">
+                <Source>Reactome</Source>
+                <Reference>Q9H324</Reference>
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+                <Reference>Q9H324</Reference>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301293[PMID]</SourceOfValidation>
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+            <Name lang="en">fibrillin 1</Name>
+            <Symbol>FBN1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MASS</Synonym>
+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
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+              <ExternalReference id="29363">
+                <Source>Genatlas</Source>
+                <Reference>FBN1</Reference>
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+              <ExternalReference id="29365">
+                <Source>HGNC</Source>
+                <Reference>3603</Reference>
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+              <ExternalReference id="29364">
+                <Source>OMIM</Source>
+                <Reference>134797</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P35555</Reference>
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+              <ExternalReference id="33046">
+                <Source>SwissProt</Source>
+                <Reference>P35555</Reference>
+              </ExternalReference>
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+                <GeneLocus>15q21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301293[PMID]_22539340[PMID]</SourceOfValidation>
+          <Gene id="18372">
+            <Name lang="en">latent transforming growth factor beta binding protein 2</Name>
+            <Symbol>LTBP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119681</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LTBP2</Reference>
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+              <ExternalReference id="41814">
+                <Source>HGNC</Source>
+                <Reference>6715</Reference>
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+              <ExternalReference id="41815">
+                <Source>OMIM</Source>
+                <Reference>602091</Reference>
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+              <ExternalReference id="83138">
+                <Source>Reactome</Source>
+                <Reference>Q14767</Reference>
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+              <ExternalReference id="41816">
+                <Source>SwissProt</Source>
+                <Reference>Q14767</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20253">
+      <OrphaCode>269510</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=269510</ExpertLink>
+      <Name lang="en">Congenital non-communicating hydrocephalus</Name>
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+          <SourceOfValidation>21031079[PMID]_23042809[PMID]</SourceOfValidation>
+          <Gene id="21727">
+            <Name lang="en">coiled-coil domain containing 88C</Name>
+            <Symbol>CCDC88C</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">Dvl-associating protein with a high frequency of leucine residues</Synonym>
+              <Synonym lang="en">HkRP2</Synonym>
+              <Synonym lang="en">SCA40</Synonym>
+              <Synonym lang="en">spinocerebellar ataxia 40</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="91599">
+                <Source>Reactome</Source>
+                <Reference>Q9P219</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000015133</Reference>
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+      <Name lang="en">Intellectual disability-developmental delay-contractures syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">zinc finger C4H2-type containing</Name>
+            <Symbol>ZC4H2</Symbol>
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+              <Synonym lang="en">HCA127</Synonym>
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+            </GeneType>
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+              <ExternalReference id="83841">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126970</Reference>
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+                <Reference>ZC4H2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24931</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300897</Reference>
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+              <ExternalReference id="79614">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQZ6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+      <Name lang="en">Wiedemann-Rautenstrauch syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">RNA polymerase III subunit A</Name>
+            <Symbol>POLR3A</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">RPC1</Synonym>
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+              <Synonym lang="en">hRPC155</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>POLR3A</Reference>
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+              <ExternalReference id="54756">
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+                <Reference>30074</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14802</Reference>
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+                <Reference>O14802</Reference>
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+                <Reference>32669</Reference>
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+                <Reference>Q2Q1W2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206557</Reference>
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+            <Name lang="en">multiple PDZ domain crumbs cell polarity complex component</Name>
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+              <Synonym lang="en">MUPP1</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116962</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID]</SourceOfValidation>
+          <Gene id="15743">
+            <Name lang="en">Zic family member 1</Name>
+            <Symbol>ZIC1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ZIC</Synonym>
+              <Synonym lang="en">ZNF201</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143965">
+                <Source>Reactome</Source>
+                <Reference>Q15915</Reference>
+              </ExternalReference>
+              <ExternalReference id="57298">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152977</Reference>
+              </ExternalReference>
+              <ExternalReference id="36517">
+                <Source>Genatlas</Source>
+                <Reference>ZIC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27977">
+                <Source>HGNC</Source>
+                <Reference>12872</Reference>
+              </ExternalReference>
+              <ExternalReference id="27976">
+                <Source>OMIM</Source>
+                <Reference>600470</Reference>
+              </ExternalReference>
+              <ExternalReference id="32715">
+                <Source>SwissProt</Source>
+                <Reference>Q15915</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39399">
+                <GeneLocus>3q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="20246">
+      <OrphaCode>269212</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=269212</ExpertLink>
+      <Name lang="en">Isolated Dandy-Walker malformation with hydrocephalus</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID]</SourceOfValidation>
+          <Gene id="15743">
+            <Name lang="en">Zic family member 1</Name>
+            <Symbol>ZIC1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ZIC</Synonym>
+              <Synonym lang="en">ZNF201</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143965">
+                <Source>Reactome</Source>
+                <Reference>Q15915</Reference>
+              </ExternalReference>
+              <ExternalReference id="57298">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152977</Reference>
+              </ExternalReference>
+              <ExternalReference id="36517">
+                <Source>Genatlas</Source>
+                <Reference>ZIC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27977">
+                <Source>HGNC</Source>
+                <Reference>12872</Reference>
+              </ExternalReference>
+              <ExternalReference id="27976">
+                <Source>OMIM</Source>
+                <Reference>600470</Reference>
+              </ExternalReference>
+              <ExternalReference id="32715">
+                <Source>SwissProt</Source>
+                <Reference>Q15915</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID]</SourceOfValidation>
+          <Gene id="15746">
+            <Name lang="en">Zic family member 4</Name>
+            <Symbol>ZIC4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="32718">
+                <Source>SwissProt</Source>
+                <Reference>Q8N9L1</Reference>
+              </ExternalReference>
+              <ExternalReference id="57299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174963</Reference>
+              </ExternalReference>
+              <ExternalReference id="36799">
+                <Source>Genatlas</Source>
+                <Reference>ZIC4</Reference>
+              </ExternalReference>
+              <ExternalReference id="27991">
+                <Source>HGNC</Source>
+                <Reference>20393</Reference>
+              </ExternalReference>
+              <ExternalReference id="27990">
+                <Source>OMIM</Source>
+                <Reference>608948</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2852">
+      <OrphaCode>1856</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1856</ExpertLink>
+      <Name lang="en">Spondyloperipheral dysplasia-short ulna syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15316962[PMID]_23545312[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <LocusList count="1">
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+    <Disorder id="20455">
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+      <Name lang="en">Alpha-dystroglycan-related limb-girdle muscular dystrophy R16</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14678799[PMID]_21388311[PMID]</SourceOfValidation>
+          <Gene id="20457">
+            <Name lang="en">dystroglycan 1</Name>
+            <Symbol>DAG1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">156DAG</Synonym>
+              <Synonym lang="en">A3a</Synonym>
+              <Synonym lang="en">AGRNR</Synonym>
+              <Synonym lang="en">DAG</Synonym>
+              <Synonym lang="en">alpha-dystroglycan</Synonym>
+              <Synonym lang="en">beta-dystroglycan</Synonym>
+              <Synonym lang="en">dystrophin-associated glycoprotein-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60554">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173402</Reference>
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+              <ExternalReference id="54083">
+                <Source>Genatlas</Source>
+                <Reference>DAG1</Reference>
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+              <ExternalReference id="54081">
+                <Source>HGNC</Source>
+                <Reference>2666</Reference>
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+              <ExternalReference id="54082">
+                <Source>OMIM</Source>
+                <Reference>128239</Reference>
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+              <ExternalReference id="83213">
+                <Source>Reactome</Source>
+                <Reference>Q14118</Reference>
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+              <ExternalReference id="54084">
+                <Source>SwissProt</Source>
+                <Reference>Q14118</Reference>
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+      <Name lang="en">Distal monosomy 12p</Name>
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+            <Name lang="en">ELKS/RAB6-interacting/CAST family member 1</Name>
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+              <Synonym lang="en">CAST2</Synonym>
+              <Synonym lang="en">ELKS</Synonym>
+              <Synonym lang="en">KIAA1081</Synonym>
+              <Synonym lang="en">MGC12974</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082805</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERC1</Reference>
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+                <Reference>17072</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607127</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IUD2</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280293</ExpertLink>
+      <Name lang="en">Pelizaeus-Merzbacher-like disease due to AIMP1 mutation</Name>
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+            <Name lang="en">aminoacyl tRNA synthetase complex interacting multifunctional protein 1</Name>
+            <Symbol>AIMP1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">EMAP II</Synonym>
+              <Synonym lang="en">EMAP-2</Synonym>
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+              <Synonym lang="en">p43</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60552">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164022</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AIMP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10648</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q12904</Reference>
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+                <Reference>Q12904</Reference>
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+      <Name lang="en">Pelizaeus-Merzbacher-like disease due to HSPD1 mutation</Name>
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+            <Name lang="en">heat shock protein family D (Hsp60) member 1</Name>
+            <Symbol>HSPD1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144381</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HSPD1</Reference>
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+                <Reference>5261</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10809</Reference>
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+      <Name lang="en">Autosomal semi-dominant severe lipodystrophic laminopathy</Name>
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+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+      <Name lang="en">Hereditary hyperekplexia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29390050[PMID]</SourceOfValidation>
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+            <Name lang="en">ATPase family AAA domain containing 1</Name>
+            <Symbol>ATAD1</Symbol>
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+              <Synonym lang="en">FLJ14600</Synonym>
+              <Synonym lang="en">Msp1</Synonym>
+              <Synonym lang="en">thorase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>25903</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138138</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P23415</Reference>
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+            <Name lang="en">gephyrin</Name>
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+                <Reference>ENSG00000171723</Reference>
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+              <Synonym lang="en">Williams-Beuren syndrome</Synonym>
+              <Synonym lang="en">supravalvular aortic stenosis</Synonym>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>3220</OrphaCode>
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+      <Name lang="en">Deafness-enamel hypoplasia-nail defects syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26387595[PMID]</SourceOfValidation>
+          <Gene id="16637">
+            <Name lang="en">peroxisomal biogenesis factor 1</Name>
+            <Symbol>PEX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57022">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127980</Reference>
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+              <ExternalReference id="32239">
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+              <ExternalReference id="32237">
+                <Source>HGNC</Source>
+                <Reference>8850</Reference>
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+              <ExternalReference id="32236">
+                <Source>OMIM</Source>
+                <Reference>602136</Reference>
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+              <ExternalReference id="33741">
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+                <Reference>O43933</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26387595[PMID]</SourceOfValidation>
+          <Gene id="16647">
+            <Name lang="en">peroxisomal biogenesis factor 6</Name>
+            <Symbol>PEX6</Symbol>
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+              <Synonym lang="en">PAF-2</Synonym>
+              <Synonym lang="en">PXAAA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>8859</Reference>
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+      <Name lang="en">Chondrodysplasia with joint dislocations, gPAPP type</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21549340[PMID]</SourceOfValidation>
+          <Gene id="20479">
+            <Name lang="en">3'(2'), 5'-bisphosphate nucleotidase 2</Name>
+            <Symbol>BPNT2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">'Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase'</Synonym>
+              <Synonym lang="en">FLJ20421</Synonym>
+              <Synonym lang="en">IMPA3</Synonym>
+              <Synonym lang="en">gPAPP</Synonym>
+              <Synonym lang="en">golgi-resident nucleotide phosphatase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143227">
+                <Source>Reactome</Source>
+                <Reference>Q9NX62</Reference>
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+              <ExternalReference id="60563">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104331</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IMPAD1</Reference>
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+                <Reference>26019</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Fatal infantile hypertonic myofibrillar myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21337604[PMID]</SourceOfValidation>
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+            <Name lang="en">crystallin alpha B</Name>
+            <Symbol>CRYAB</Symbol>
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+              <Synonym lang="en">HSPB5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">Warsaw Breakage Syndrome</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              </ExternalReference>
+              <ExternalReference id="46573">
+                <Source>SwissProt</Source>
+                <Reference>O75096</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11091">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20431">
+      <OrphaCode>280142</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280142</ExpertLink>
+      <Name lang="en">Severe combined immunodeficiency due to LCK deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20432">
+            <Name lang="en">LCK proto-oncogene, Src family tyrosine kinase</Name>
+            <Symbol>LCK</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60548">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182866</Reference>
+              </ExternalReference>
+              <ExternalReference id="54040">
+                <Source>Genatlas</Source>
+                <Reference>LCK</Reference>
+              </ExternalReference>
+              <ExternalReference id="54038">
+                <Source>HGNC</Source>
+                <Reference>6524</Reference>
+              </ExternalReference>
+              <ExternalReference id="83211">
+                <Source>IUPHAR</Source>
+                <Reference>2053</Reference>
+              </ExternalReference>
+              <ExternalReference id="54039">
+                <Source>OMIM</Source>
+                <Reference>153390</Reference>
+              </ExternalReference>
+              <ExternalReference id="60549">
+                <Source>Reactome</Source>
+                <Reference>P06239</Reference>
+              </ExternalReference>
+              <ExternalReference id="54041">
+                <Source>SwissProt</Source>
+                <Reference>P06239</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20430">
+      <OrphaCode>280133</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280133</ExpertLink>
+      <Name lang="en">Complement component 3 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15781264[PMID]</SourceOfValidation>
+          <Gene id="17446">
+            <Name lang="en">complement C3</Name>
+            <Symbol>C3</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ARMD9</Synonym>
+              <Synonym lang="en">C3a</Synonym>
+              <Synonym lang="en">C3a anaphylatoxin</Synonym>
+              <Synonym lang="en">C3b</Synonym>
+              <Synonym lang="en">CPAMD1</Synonym>
+              <Synonym lang="en">complement component C3a</Synonym>
+              <Synonym lang="en">complement component C3b</Synonym>
+              <Synonym lang="en">prepro-C3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125730</Reference>
+              </ExternalReference>
+              <ExternalReference id="38111">
+                <Source>Genatlas</Source>
+                <Reference>C3</Reference>
+              </ExternalReference>
+              <ExternalReference id="38113">
+                <Source>HGNC</Source>
+                <Reference>1318</Reference>
+              </ExternalReference>
+              <ExternalReference id="38112">
+                <Source>OMIM</Source>
+                <Reference>120700</Reference>
+              </ExternalReference>
+              <ExternalReference id="58477">
+                <Source>Reactome</Source>
+                <Reference>P01024</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>P01024</Reference>
+              </ExternalReference>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2829">
+      <OrphaCode>3163</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3163</ExpertLink>
+      <Name lang="en">SHORT syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23810378[PMID]_23810379[PMID]_23810382[PMID]</SourceOfValidation>
+          <Gene id="22044">
+            <Name lang="en">phosphoinositide-3-kinase regulatory subunit 1</Name>
+            <Symbol>PIK3R1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GRB1</Synonym>
+              <Synonym lang="en">p85</Synonym>
+              <Synonym lang="en">p85-ALPHA</Synonym>
+              <Synonym lang="en">phosphoinositide-3-kinase regulatory subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190528">
+                <Source>IUPHAR</Source>
+                <Reference>2503</Reference>
+              </ExternalReference>
+              <ExternalReference id="83804">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145675</Reference>
+              </ExternalReference>
+              <ExternalReference id="79139">
+                <Source>Genatlas</Source>
+                <Reference>PIK3R1</Reference>
+              </ExternalReference>
+              <ExternalReference id="79137">
+                <Source>HGNC</Source>
+                <Reference>8979</Reference>
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+              <ExternalReference id="79138">
+                <Source>OMIM</Source>
+                <Reference>171833</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27986</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P27986</Reference>
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+          </DisorderGeneAssociationType>
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+      <Name lang="en">NON RARE IN EUROPE: Paget disease of bone</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">TNF receptor superfamily member 11a</Name>
+            <Symbol>TNFRSF11A</Symbol>
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+              <Synonym lang="en">CD265</Synonym>
+              <Synonym lang="en">FEO</Synonym>
+              <Synonym lang="en">ODFR</Synonym>
+              <Synonym lang="en">RANK</Synonym>
+              <Synonym lang="en">TRANCE receptor</Synonym>
+              <Synonym lang="en">TRANCE-R</Synonym>
+              <Synonym lang="en">familial expansile osteolysis</Synonym>
+              <Synonym lang="en">osteoclast differentiation factor receptor</Synonym>
+              <Synonym lang="en">receptor activator of nuclear factor kappa B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="193639">
+                <Source>IUPHAR</Source>
+                <Reference>1881</Reference>
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+              <ExternalReference id="58280">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141655</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TNFRSF11A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11908</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603499</Reference>
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+              <ExternalReference id="97188">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6Q6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y6Q6</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12374763[PMID]</SourceOfValidation>
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+            <Name lang="en">sequestosome 1</Name>
+            <Symbol>SQSTM1</Symbol>
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+              <Synonym lang="en">autophagy receptor p62</Synonym>
+              <Synonym lang="en">p60</Synonym>
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+              <Synonym lang="en">p62B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60546">
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+                <Reference>ENSG00000161011</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>601530</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13501</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26849110[PMID]</SourceOfValidation>
+          <Gene id="23637">
+            <Name lang="en">zinc finger protein 687</Name>
+            <Symbol>ZNF687</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1441</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143503">
+                <Source>Reactome</Source>
+                <Reference>Q8N1G0</Reference>
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+              <ExternalReference id="98789">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143373</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ZNF687</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29277</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610568</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N1G0</Reference>
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+      <Name lang="en">Atrial septal defect-atrioventricular conduction defects syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+                <Reference>2488</Reference>
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+      <Name lang="en">Senior-Loken syndrome</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">centrosomal protein 290</Name>
+            <Symbol>CEP290</Symbol>
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+              <Synonym lang="en">BBS14</Synonym>
+              <Synonym lang="en">Bardet-Biedl syndrome 14</Synonym>
+              <Synonym lang="en">CT87</Synonym>
+              <Synonym lang="en">FLJ13615</Synonym>
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+              <Synonym lang="en">Joubert syndrome 5</Synonym>
+              <Synonym lang="en">KIAA0373</Synonym>
+              <Synonym lang="en">LCA10</Synonym>
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+              <Synonym lang="en">Meckel syndrome, type 4</Synonym>
+              <Synonym lang="en">NPHP6</Synonym>
+              <Synonym lang="en">POC3</Synonym>
+              <Synonym lang="en">POC3 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN6</Synonym>
+              <Synonym lang="en">cancer/testis antigen 87</Synonym>
+              <Synonym lang="en">nephrocystin-6</Synonym>
+              <Synonym lang="en">rd16</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198707</Reference>
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+                <Reference>29021</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15078</Reference>
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+          <SourceOfValidation>16522655[PMID]_22819833[PMID]</SourceOfValidation>
+          <Gene id="16264">
+            <Name lang="en">inversin</Name>
+            <Symbol>INVS</Symbol>
+            <SynonymList count="1">
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+                <Reference>ENSG00000119509</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>INVS</Reference>
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+                <Reference>243305</Reference>
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+                <Reference>Q9Y283</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22819833[PMID]</SourceOfValidation>
+          <Gene id="16265">
+            <Name lang="en">IQ motif containing B1</Name>
+            <Symbol>IQCB1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0036</Synonym>
+              <Synonym lang="en">NPHP5</Synonym>
+              <Synonym lang="en">SLSN5</Synonym>
+              <Synonym lang="en">nephrocystin-5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58331">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173226</Reference>
+              </ExternalReference>
+              <ExternalReference id="30495">
+                <Source>Genatlas</Source>
+                <Reference>IQCB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30493">
+                <Source>HGNC</Source>
+                <Reference>28949</Reference>
+              </ExternalReference>
+              <ExternalReference id="30492">
+                <Source>OMIM</Source>
+                <Reference>609237</Reference>
+              </ExternalReference>
+              <ExternalReference id="97229">
+                <Source>Reactome</Source>
+                <Reference>Q15051</Reference>
+              </ExternalReference>
+              <ExternalReference id="33330">
+                <Source>SwissProt</Source>
+                <Reference>Q15051</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25903">
+                <GeneLocus>3q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22819833[PMID]</SourceOfValidation>
+          <Gene id="16563">
+            <Name lang="en">nephrocystin 1</Name>
+            <Symbol>NPHP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JBTS4</Synonym>
+              <Synonym lang="en">SLSN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58332">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144061</Reference>
+              </ExternalReference>
+              <ExternalReference id="31887">
+                <Source>Genatlas</Source>
+                <Reference>NPHP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31885">
+                <Source>HGNC</Source>
+                <Reference>7905</Reference>
+              </ExternalReference>
+              <ExternalReference id="31884">
+                <Source>OMIM</Source>
+                <Reference>607100</Reference>
+              </ExternalReference>
+              <ExternalReference id="97243">
+                <Source>Reactome</Source>
+                <Reference>O15259</Reference>
+              </ExternalReference>
+              <ExternalReference id="33628">
+                <Source>SwissProt</Source>
+                <Reference>O15259</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16733">
+                <GeneLocus>2q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22819833[PMID]</SourceOfValidation>
+          <Gene id="16564">
+            <Name lang="en">nephrocystin 3</Name>
+            <Symbol>NPHP3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CFAP31</Synonym>
+              <Synonym lang="en">FLJ30691</Synonym>
+              <Synonym lang="en">FLJ36696</Synonym>
+              <Synonym lang="en">KIAA2000</Synonym>
+              <Synonym lang="en">MKS7</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 7</Synonym>
+              <Synonym lang="en">NPH3</Synonym>
+              <Synonym lang="en">SLSN3</Synonym>
+              <Synonym lang="en">cilia and flagella associated protein 31</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58317">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113971</Reference>
+              </ExternalReference>
+              <ExternalReference id="31889">
+                <Source>Genatlas</Source>
+                <Reference>NPHP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31891">
+                <Source>HGNC</Source>
+                <Reference>7907</Reference>
+              </ExternalReference>
+              <ExternalReference id="31890">
+                <Source>OMIM</Source>
+                <Reference>608002</Reference>
+              </ExternalReference>
+              <ExternalReference id="97244">
+                <Source>Reactome</Source>
+                <Reference>Q7Z494</Reference>
+              </ExternalReference>
+              <ExternalReference id="33629">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z494</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25201">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22819833[PMID]</SourceOfValidation>
+          <Gene id="16565">
+            <Name lang="en">nephrocystin 4</Name>
+            <Symbol>NPHP4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA0673</Synonym>
+              <Synonym lang="en">POC10</Synonym>
+              <Synonym lang="en">POC10 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN4</Synonym>
+              <Synonym lang="en">nephroretinin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58333">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131697</Reference>
+              </ExternalReference>
+              <ExternalReference id="31897">
+                <Source>Genatlas</Source>
+                <Reference>NPHP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="31895">
+                <Source>HGNC</Source>
+                <Reference>19104</Reference>
+              </ExternalReference>
+              <ExternalReference id="31894">
+                <Source>OMIM</Source>
+                <Reference>607215</Reference>
+              </ExternalReference>
+              <ExternalReference id="58334">
+                <Source>Reactome</Source>
+                <Reference>O75161</Reference>
+              </ExternalReference>
+              <ExternalReference id="33630">
+                <Source>SwissProt</Source>
+                <Reference>O75161</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20835">
+                <GeneLocus>1p36.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22819833[PMID]</SourceOfValidation>
+          <Gene id="19480">
+            <Name lang="en">SHH signaling and ciliogenesis regulator SDCCAG8</Name>
+            <Symbol>SDCCAG8</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">BBS16</Synonym>
+              <Synonym lang="en">Bardet-Biedl syndrome 16</Synonym>
+              <Synonym lang="en">CCCAP</Synonym>
+              <Synonym lang="en">NPHP10</Synonym>
+              <Synonym lang="en">NY-CO-8</Synonym>
+              <Synonym lang="en">SLSN7</Synonym>
+              <Synonym lang="en">Senior-Loken syndrome 7</Synonym>
+              <Synonym lang="en">centrosomal colon cancer autoantigen protein</Synonym>
+              <Synonym lang="en">nephrocystin 10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="49298">
+                <Source>HGNC</Source>
+                <Reference>10671</Reference>
+              </ExternalReference>
+              <ExternalReference id="49299">
+                <Source>OMIM</Source>
+                <Reference>613524</Reference>
+              </ExternalReference>
+              <ExternalReference id="58336">
+                <Source>Reactome</Source>
+                <Reference>Q86SQ7</Reference>
+              </ExternalReference>
+              <ExternalReference id="49300">
+                <Source>SwissProt</Source>
+                <Reference>Q86SQ7</Reference>
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+              <ExternalReference id="58335">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054282</Reference>
+              </ExternalReference>
+              <ExternalReference id="49297">
+                <Source>Genatlas</Source>
+                <Reference>SDCCAG8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25041">
+                <GeneLocus>1q43-q44</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23683095[PMID]</SourceOfValidation>
+          <Gene id="20667">
+            <Name lang="en">WD repeat domain 19</Name>
+            <Symbol>WDR19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DYF-2</Synonym>
+              <Synonym lang="en">FAP66</Synonym>
+              <Synonym lang="en">FLJ23127</Synonym>
+              <Synonym lang="en">IFT144</Synonym>
+              <Synonym lang="en">KIAA1638</Synonym>
+              <Synonym lang="en">NPHP13</Synonym>
+              <Synonym lang="en">ORF26</Synonym>
+              <Synonym lang="en">Oseg6</Synonym>
+              <Synonym lang="en">Pwdmp</Synonym>
+              <Synonym lang="en">intraflagellar transport 144 homolog (Chlamydomonas)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95499">
+                <Source>Reactome</Source>
+                <Reference>Q8NEZ3</Reference>
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+              <ExternalReference id="54885">
+                <Source>SwissProt</Source>
+                <Reference>Q8NEZ3</Reference>
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+              <ExternalReference id="57121">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157796</Reference>
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+              <ExternalReference id="54886">
+                <Source>Genatlas</Source>
+                <Reference>WDR19</Reference>
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+              <ExternalReference id="54887">
+                <Source>HGNC</Source>
+                <Reference>18340</Reference>
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+              <ExternalReference id="54884">
+                <Source>OMIM</Source>
+                <Reference>608151</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22863007[PMID]</SourceOfValidation>
+          <Gene id="21455">
+            <Name lang="en">centrosomal protein 164</Name>
+            <Symbol>CEP164</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1052</Synonym>
+              <Synonym lang="en">NPHP15</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000110274</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CEP164</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29182</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83513">
+                <Source>Reactome</Source>
+                <Reference>Q9UPV0</Reference>
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+                <Reference>Q9UPV0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26487268[PMID]</SourceOfValidation>
+          <Gene id="23492">
+            <Name lang="en">TRAF3 interacting protein 1</Name>
+            <Symbol>TRAF3IP1</Symbol>
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+              <Synonym lang="en">DKFZP434F124</Synonym>
+              <Synonym lang="en">FAP116</Synonym>
+              <Synonym lang="en">IFT54</Synonym>
+              <Synonym lang="en">MIP-T3</Synonym>
+              <Synonym lang="en">MIPT3</Synonym>
+              <Synonym lang="en">microtubule interacting protein that associates with TRAF3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204104</Reference>
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+                <Reference>17861</Reference>
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+              <ExternalReference id="97498">
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+                <Reference>607380</Reference>
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+              <ExternalReference id="97501">
+                <Source>Reactome</Source>
+                <Reference>Q8TDR0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TDR0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280071</ExpertLink>
+      <Name lang="en">ALG11-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20080937[PMID]</SourceOfValidation>
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+            <Name lang="en">ALG11 alpha-1,2-mannosyltransferase</Name>
+            <Symbol>ALG11</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CDG1P</Synonym>
+              <Synonym lang="en">GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase</Synonym>
+              <Synonym lang="en">KIAA0266</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000253710</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ALG11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>32456</Reference>
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+                <Reference>613666</Reference>
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+              <ExternalReference id="83210">
+                <Source>Reactome</Source>
+                <Reference>Q2TAA5</Reference>
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+                <Reference>Q2TAA5</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3157</ExpertLink>
+      <Name lang="en">Septo-optic dysplasia spectrum</Name>
+      <DisorderType id="21401">
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+          <SourceOfValidation>22319038[PMID]</SourceOfValidation>
+          <Gene id="15146">
+            <Name lang="en">prokineticin receptor 2</Name>
+            <Symbol>PROKR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GPR73b</Synonym>
+              <Synonym lang="en">GPRg2</Synonym>
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+              <Synonym lang="en">dJ680N4.3</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101292</Reference>
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+                <Reference>PROKR2</Reference>
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+                <Reference>15836</Reference>
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+              <ExternalReference id="82749">
+                <Source>IUPHAR</Source>
+                <Reference>336</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>607123</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]</SourceOfValidation>
+          <Gene id="15540">
+            <Name lang="en">SRY-box transcription factor 2</Name>
+            <Symbol>SOX2</Symbol>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181449</Reference>
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+              <ExternalReference id="27018">
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+                <Reference>SOX2</Reference>
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+                <Reference>11195</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48431</Reference>
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+                <Reference>P48431</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q26.33</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22319038[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
+              </ExternalReference>
+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+              <ExternalReference id="29431">
+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+              <ExternalReference id="82916">
+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+              <ExternalReference id="29430">
+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
+              </ExternalReference>
+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26177">
+                <GeneLocus>8p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]</SourceOfValidation>
+          <Gene id="16192">
+            <Name lang="en">HESX homeobox 1</Name>
+            <Symbol>HESX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ANF</Synonym>
+              <Synonym lang="en">RPX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143259">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX0</Reference>
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+              <ExternalReference id="58337">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163666</Reference>
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+              <ExternalReference id="30152">
+                <Source>Genatlas</Source>
+                <Reference>HESX1</Reference>
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+              <ExternalReference id="30150">
+                <Source>HGNC</Source>
+                <Reference>4877</Reference>
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+              <ExternalReference id="30149">
+                <Source>OMIM</Source>
+                <Reference>601802</Reference>
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+              <ExternalReference id="33211">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBX0</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21396578[PMID]_24802313[PMID]</SourceOfValidation>
+          <Gene id="16599">
+            <Name lang="en">orthodenticle homeobox 2</Name>
+            <Symbol>OTX2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="33664">
+                <Source>SwissProt</Source>
+                <Reference>P32243</Reference>
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+              <ExternalReference id="58338">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165588</Reference>
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+              <ExternalReference id="37287">
+                <Source>Genatlas</Source>
+                <Reference>OTX2</Reference>
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+              <ExternalReference id="32059">
+                <Source>HGNC</Source>
+                <Reference>8522</Reference>
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+              <ExternalReference id="32058">
+                <Source>OMIM</Source>
+                <Reference>600037</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9561">
+                <GeneLocus>14q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17587179[PMID]_21396578[PMID]_24802313[PMID]</SourceOfValidation>
+          <Gene id="16787">
+            <Name lang="en">SRY-box transcription factor 3</Name>
+            <Symbol>SOX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134595</Reference>
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+              <ExternalReference id="34936">
+                <Source>Genatlas</Source>
+                <Reference>SOX3</Reference>
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+              <ExternalReference id="34933">
+                <Source>HGNC</Source>
+                <Reference>11199</Reference>
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+              <ExternalReference id="34934">
+                <Source>OMIM</Source>
+                <Reference>313430</Reference>
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+              <ExternalReference id="97248">
+                <Source>Reactome</Source>
+                <Reference>P41225</Reference>
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+              <ExternalReference id="34935">
+                <Source>SwissProt</Source>
+                <Reference>P41225</Reference>
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+            <LocusList count="1">
+              <Locus id="16743">
+                <GeneLocus>Xq27.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24022475[PMID]</SourceOfValidation>
+          <Gene id="22563">
+            <Name lang="en">aryl hydrocarbon receptor nuclear translocator 2</Name>
+            <Symbol>ARNT2</Symbol>
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+              <Synonym lang="en">KIAA0307</Synonym>
+              <Synonym lang="en">bHLHe1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135069">
+                <Source>Reactome</Source>
+                <Reference>Q9HBZ2</Reference>
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+              <ExternalReference id="84321">
+                <Source>OMIM</Source>
+                <Reference>606036</Reference>
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+              <ExternalReference id="84320">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBZ2</Reference>
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+              <ExternalReference id="84597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172379</Reference>
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+              <ExternalReference id="84319">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="84318">
+                <Source>HGNC</Source>
+                <Reference>16876</Reference>
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+              <Locus id="35969">
+                <GeneLocus>15q25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280210</ExpertLink>
+      <Name lang="en">Pelizaeus-Merzbacher disease, connatal form</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">proteolipid protein 1</Name>
+            <Symbol>PLP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPM6C</Synonym>
+              <Synonym lang="en">Pelizaeus-Merzbacher disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123560</Reference>
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+              <ExternalReference id="24962">
+                <Source>Genatlas</Source>
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+                <Reference>9086</Reference>
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+              <ExternalReference id="32802">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Pelizaeus-Merzbacher disease, classic form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>9086</Reference>
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+              <ExternalReference id="32802">
+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280200</ExpertLink>
+      <Name lang="en">Microform holoprosencephaly</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>3688</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">SUFU negative regulator of hedgehog signaling</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">SIX homeobox 3</Name>
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+                <Source>Reactome</Source>
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+            <Symbol>TGIF1</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177426</Reference>
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+              <ExternalReference id="36450">
+                <Source>Genatlas</Source>
+                <Reference>TGIF1</Reference>
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+              <ExternalReference id="27363">
+                <Source>HGNC</Source>
+                <Reference>11776</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602630</Reference>
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+              <ExternalReference id="82833">
+                <Source>Reactome</Source>
+                <Reference>Q15583</Reference>
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+              <ExternalReference id="32583">
+                <Source>SwissProt</Source>
+                <Reference>Q15583</Reference>
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+            <LocusList count="1">
+              <Locus id="7737">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15744">
+            <Name lang="en">Zic family member 2</Name>
+            <Symbol>ZIC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HPE5</Synonym>
+              <Synonym lang="en">Zinc finger protein of the cerebellum 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000043355</Reference>
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+              <ExternalReference id="27983">
+                <Source>Genatlas</Source>
+                <Reference>ZIC2</Reference>
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+              <ExternalReference id="27981">
+                <Source>HGNC</Source>
+                <Reference>12873</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603073</Reference>
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+              <ExternalReference id="32716">
+                <Source>SwissProt</Source>
+                <Reference>O95409</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16803">
+            <Name lang="en">GLI family zinc finger 2</Name>
+            <Symbol>GLI2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HPE9</Synonym>
+              <Synonym lang="en">THP1</Synonym>
+              <Synonym lang="en">THP2</Synonym>
+              <Synonym lang="en">tax helper protein 1</Synonym>
+              <Synonym lang="en">tax helper protein 2</Synonym>
+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074047</Reference>
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+              <ExternalReference id="35013">
+                <Source>Genatlas</Source>
+                <Reference>GLI2</Reference>
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+              <ExternalReference id="35014">
+                <Source>HGNC</Source>
+                <Reference>4318</Reference>
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+                <Source>OMIM</Source>
+                <Reference>165230</Reference>
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+              <ExternalReference id="97249">
+                <Source>Reactome</Source>
+                <Reference>P10070</Reference>
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+              <ExternalReference id="35015">
+                <Source>SwissProt</Source>
+                <Reference>P10070</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16804">
+            <Name lang="en">teratocarcinoma-derived growth factor 1</Name>
+            <Symbol>TDGF1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CR</Synonym>
+              <Synonym lang="en">CR-1</Synonym>
+              <Synonym lang="en">CRIPTO</Synonym>
+              <Synonym lang="en">Cripto-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59740">
+                <Source>Reactome</Source>
+                <Reference>P13385</Reference>
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+              <ExternalReference id="35019">
+                <Source>SwissProt</Source>
+                <Reference>P13385</Reference>
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+              <ExternalReference id="59739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241186</Reference>
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+              <ExternalReference id="35018">
+                <Source>Genatlas</Source>
+                <Reference>TDGF1</Reference>
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+              <ExternalReference id="35021">
+                <Source>HGNC</Source>
+                <Reference>11701</Reference>
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+              <ExternalReference id="35020">
+                <Source>OMIM</Source>
+                <Reference>187395</Reference>
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+                <GeneLocus>3p21.31</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17366">
+            <Name lang="en">forkhead box H1</Name>
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+              <Synonym lang="en">FAST1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59732">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160973</Reference>
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+              <ExternalReference id="37058">
+                <Source>Genatlas</Source>
+                <Reference>FOXH1</Reference>
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+              <ExternalReference id="37060">
+                <Source>HGNC</Source>
+                <Reference>3814</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603621</Reference>
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+              <ExternalReference id="59733">
+                <Source>Reactome</Source>
+                <Reference>O75593</Reference>
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+              <ExternalReference id="37061">
+                <Source>SwissProt</Source>
+                <Reference>O75593</Reference>
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+                <GeneLocus>8q24.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17965">
+            <Name lang="en">fibroblast growth factor 8</Name>
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+            <SynonymList count="2">
+              <Synonym lang="en">AIGF</Synonym>
+              <Synonym lang="en">androgen-induced growth factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="40510">
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+                <Reference>P55075</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107831</Reference>
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+              <ExternalReference id="40507">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="40509">
+                <Source>OMIM</Source>
+                <Reference>600483</Reference>
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+              <ExternalReference id="58422">
+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19461">
+            <Name lang="en">dispatched RND transporter family member 1</Name>
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+              <Synonym lang="en">DISPA</Synonym>
+              <Synonym lang="en">DKFZP434I0428</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000154309</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="20404">
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+              <Synonym lang="en">CDON1</Synonym>
+              <Synonym lang="en">Ihog</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="20553">
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+                <Source>Reactome</Source>
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+          <Gene id="20554">
+            <Name lang="en">delta like canonical Notch ligand 1</Name>
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+                <Reference>ENSG00000198719</Reference>
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+                <Source>Reactome</Source>
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+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
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+              <Synonym lang="en">Growth arrest-specific gene-1</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">EIEE1</Synonym>
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+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
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+                <Reference>ARX</Reference>
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+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
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+              <ExternalReference id="28972">
+                <Source>OMIM</Source>
+                <Reference>300382</Reference>
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+            <LocusList count="1">
+              <Locus id="8363">
+                <GeneLocus>Xp21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20435">
+      <OrphaCode>280195</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280195</ExpertLink>
+      <Name lang="en">Septopreoptic holoprosencephaly</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="15">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29785796[PMID]</SourceOfValidation>
+          <Gene id="17920">
+            <Name lang="en">STIL centriolar assembly protein</Name>
+            <Symbol>STIL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MCPH7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142939">
+                <Source>Reactome</Source>
+                <Reference>Q15468</Reference>
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+              <ExternalReference id="57649">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123473</Reference>
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+              <ExternalReference id="40359">
+                <Source>Genatlas</Source>
+                <Reference>STIL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10879</Reference>
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+                <Source>OMIM</Source>
+                <Reference>181590</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15468</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15164">
+            <Name lang="en">patched 1</Name>
+            <Symbol>PTCH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BCNS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185920</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PTCH1</Reference>
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+              <ExternalReference id="25214">
+                <Source>HGNC</Source>
+                <Reference>9585</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601309</Reference>
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+              <ExternalReference id="56984">
+                <Source>Reactome</Source>
+                <Reference>Q13635</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
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+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+              <ExternalReference id="33848">
+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15296">
+            <Name lang="en">SIX homeobox 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57396">
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+                <Reference>ENSG00000138083</Reference>
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+                <Reference>SIX3</Reference>
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+                <Reference>10889</Reference>
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+                <Reference>603714</Reference>
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+              <ExternalReference id="33854">
+                <Source>SwissProt</Source>
+                <Reference>O95343</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95343</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15612">
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+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="36450">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>602630</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15744">
+            <Name lang="en">Zic family member 2</Name>
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+              <ExternalReference id="27983">
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+          <Gene id="16803">
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+              <Synonym lang="en">tax helper protein 1</Synonym>
+              <Synonym lang="en">tax helper protein 2</Synonym>
+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Cripto-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000241186</Reference>
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+                <Source>Reactome</Source>
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+          <Gene id="17965">
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+              <Synonym lang="en">androgen-induced growth factor</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="20553">
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+            <Symbol>NODAL</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000156574</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>601265</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20554">
+            <Name lang="en">delta like canonical Notch ligand 1</Name>
+            <Symbol>DLL1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198719</Reference>
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+              <ExternalReference id="54424">
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+                <Reference>DLL1</Reference>
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+                <Reference>O00548</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
+            <Symbol>GAS1</Symbol>
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+              <Synonym lang="en">Growth arrest-specific gene-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P54826</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>280183</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280183</ExpertLink>
+      <Name lang="en">Methylmalonic aciduria due to transcobalamin receptor defect</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20524213[PMID]</SourceOfValidation>
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+            <Name lang="en">CD320 molecule</Name>
+            <Symbol>CD320</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">8D6</Synonym>
+              <Synonym lang="en">8D6 antigen</Synonym>
+              <Synonym lang="en">8D6A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167775</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>Q9NPF0</Reference>
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+      <Name lang="en">Pelizaeus-Merzbacher-like disease due to GJC2 mutation</Name>
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+            <Symbol>GJC2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198835</Reference>
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+              <ExternalReference id="38646">
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+                <Reference>17494</Reference>
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+              <ExternalReference id="59414">
+                <Source>Reactome</Source>
+                <Reference>Q5T442</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5T442</Reference>
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+      <Name lang="en">Null syndrome</Name>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">acid phosphatase 5, tartrate resistant</Name>
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+              <Synonym lang="en">human purple acid phosphatase</Synonym>
+              <Synonym lang="en">tartrate-resistant acid phosphatase</Synonym>
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+                <Reference>9086</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Pelizaeus-Merzbacher disease in female carriers</Name>
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+                <Source>Genatlas</Source>
+                <Reference>PLP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24960">
+                <Source>HGNC</Source>
+                <Reference>9086</Reference>
+              </ExternalReference>
+              <ExternalReference id="24959">
+                <Source>OMIM</Source>
+                <Reference>300401</Reference>
+              </ExternalReference>
+              <ExternalReference id="32802">
+                <Source>SwissProt</Source>
+                <Reference>P60201</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22525">
+                <GeneLocus>Xq22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20385">
+      <OrphaCode>276580</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276580</ExpertLink>
+      <Name lang="en">Autosomal dominant hyperinsulinism due to Kir6.2 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18596924[PMID]_25733449[PMID]</SourceOfValidation>
+          <Gene id="16292">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-sensitive inward rectifier potassium channel 11</Synonym>
+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
+              </ExternalReference>
+              <ExternalReference id="30625">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
+              </ExternalReference>
+              <ExternalReference id="30623">
+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
+              </ExternalReference>
+              <ExternalReference id="82967">
+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
+              </ExternalReference>
+              <ExternalReference id="30622">
+                <Source>OMIM</Source>
+                <Reference>600937</Reference>
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+              <ExternalReference id="59295">
+                <Source>Reactome</Source>
+                <Reference>Q14654</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11p15.1</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="2913">
+      <OrphaCode>3258</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3258</ExpertLink>
+      <Name lang="en">Cenani-Lenz syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25676610[PMID]</SourceOfValidation>
+          <Gene id="16443">
+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP2</Synonym>
+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
+              </ExternalReference>
+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
+              </ExternalReference>
+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
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+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
+              </ExternalReference>
+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
+              </ExternalReference>
+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20381006[PMID]_23636941[PMID]</SourceOfValidation>
+          <Gene id="19230">
+            <Name lang="en">LDL receptor related protein 4</Name>
+            <Symbol>LRP4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLSS</Synonym>
+              <Synonym lang="en">LRP-4</Synonym>
+              <Synonym lang="en">MEGF7</Synonym>
+              <Synonym lang="en">SOST2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58363">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134569</Reference>
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+              <ExternalReference id="46572">
+                <Source>Genatlas</Source>
+                <Reference>LRP4</Reference>
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+              <ExternalReference id="46571">
+                <Source>HGNC</Source>
+                <Reference>6696</Reference>
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+              <ExternalReference id="46574">
+                <Source>OMIM</Source>
+                <Reference>604270</Reference>
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+              <ExternalReference id="83178">
+                <Source>Reactome</Source>
+                <Reference>O75096</Reference>
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+              <ExternalReference id="46573">
+                <Source>SwissProt</Source>
+                <Reference>O75096</Reference>
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+                <GeneLocus>11p11.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20384">
+      <OrphaCode>276575</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276575</ExpertLink>
+      <Name lang="en">Autosomal dominant hyperinsulinism due to SUR1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>11018078[PMID]_25733449[PMID]</SourceOfValidation>
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+            <Name lang="en">ATP binding cassette subfamily C member 8</Name>
+            <Symbol>ABCC8</Symbol>
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+              <Synonym lang="en">ABC36</Synonym>
+              <Synonym lang="en">HHF1</Synonym>
+              <Synonym lang="en">HI</Synonym>
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+              <Synonym lang="en">TNDM2</Synonym>
+              <Synonym lang="en">sulfonylurea receptor (hyperinsulinemia)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006071</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>59</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2594</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600509</Reference>
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+              <ExternalReference id="59428">
+                <Source>Reactome</Source>
+                <Reference>Q09428</Reference>
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+              <ExternalReference id="32333">
+                <Source>SwissProt</Source>
+                <Reference>Q09428</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="20387">
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+      <Name lang="en">Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006071</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Sporadic pheochromocytoma/secreting paraganglioma</Name>
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+            <Name lang="en">succinate dehydrogenase complex subunit D</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="18353">
+            <Name lang="en">endothelial PAS domain protein 1</Name>
+            <Symbol>EPAS1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HIF-1 alpha-like factor</Synonym>
+              <Synonym lang="en">HIF2A</Synonym>
+              <Synonym lang="en">HLF</Synonym>
+              <Synonym lang="en">MOP2</Synonym>
+              <Synonym lang="en">PASD2</Synonym>
+              <Synonym lang="en">bHLHe73</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190371">
+                <Source>IUPHAR</Source>
+                <Reference>3148</Reference>
+              </ExternalReference>
+              <ExternalReference id="41694">
+                <Source>OMIM</Source>
+                <Reference>603349</Reference>
+              </ExternalReference>
+              <ExternalReference id="83132">
+                <Source>Reactome</Source>
+                <Reference>Q99814</Reference>
+              </ExternalReference>
+              <ExternalReference id="41695">
+                <Source>SwissProt</Source>
+                <Reference>Q99814</Reference>
+              </ExternalReference>
+              <ExternalReference id="60457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116016</Reference>
+              </ExternalReference>
+              <ExternalReference id="41692">
+                <Source>Genatlas</Source>
+                <Reference>EPAS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="41693">
+                <Source>HGNC</Source>
+                <Reference>3374</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60151">
+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12000816[PMID]_27539324[PMID]</SourceOfValidation>
+          <Gene id="15708">
+            <Name lang="en">von Hippel-Lindau tumor suppressor</Name>
+            <Symbol>VHL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VHL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56768">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134086</Reference>
+              </ExternalReference>
+              <ExternalReference id="27819">
+                <Source>Genatlas</Source>
+                <Reference>VHL</Reference>
+              </ExternalReference>
+              <ExternalReference id="27817">
+                <Source>HGNC</Source>
+                <Reference>12687</Reference>
+              </ExternalReference>
+              <ExternalReference id="27816">
+                <Source>OMIM</Source>
+                <Reference>608537</Reference>
+              </ExternalReference>
+              <ExternalReference id="56769">
+                <Source>Reactome</Source>
+                <Reference>P40337</Reference>
+              </ExternalReference>
+              <ExternalReference id="32680">
+                <Source>SwissProt</Source>
+                <Reference>P40337</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7903">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12000816[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
+              </ExternalReference>
+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
+              </ExternalReference>
+              <ExternalReference id="25386">
+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
+              </ExternalReference>
+              <ExternalReference id="82759">
+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
+              </ExternalReference>
+              <ExternalReference id="25385">
+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
+              </ExternalReference>
+              <ExternalReference id="33724">
+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24113">
+                <GeneLocus>10q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20393">
+      <OrphaCode>276630</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276630</ExpertLink>
+      <Name lang="en">Symptomatic form of Coffin-Lowry syndrome in female carriers</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301520[PMID]</SourceOfValidation>
+          <Gene id="15231">
+            <Name lang="en">ribosomal protein S6 kinase A3</Name>
+            <Symbol>RPS6KA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HU-3</Synonym>
+              <Synonym lang="en">RSK</Synonym>
+              <Synonym lang="en">RSK2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="25527">
+                <Source>HGNC</Source>
+                <Reference>10432</Reference>
+              </ExternalReference>
+              <ExternalReference id="82764">
+                <Source>IUPHAR</Source>
+                <Reference>1528</Reference>
+              </ExternalReference>
+              <ExternalReference id="25526">
+                <Source>OMIM</Source>
+                <Reference>300075</Reference>
+              </ExternalReference>
+              <ExternalReference id="57049">
+                <Source>Reactome</Source>
+                <Reference>P51812</Reference>
+              </ExternalReference>
+              <ExternalReference id="33789">
+                <Source>SwissProt</Source>
+                <Reference>P51812</Reference>
+              </ExternalReference>
+              <ExternalReference id="57048">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177189</Reference>
+              </ExternalReference>
+              <ExternalReference id="25529">
+                <Source>Genatlas</Source>
+                <Reference>RPS6KA3</Reference>
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+            <LocusList count="1">
+              <Locus id="25813">
+                <GeneLocus>Xp22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="2923">
+      <OrphaCode>3275</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3275</ExpertLink>
+      <Name lang="en">Spondylocarpotarsal synostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27381093[PMID]</SourceOfValidation>
+          <Gene id="16499">
+            <Name lang="en">myosin heavy chain 3</Name>
+            <Symbol>MYH3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HEMHC</Synonym>
+              <Synonym lang="en">MYHC-EMB</Synonym>
+              <Synonym lang="en">MYHSE1</Synonym>
+              <Synonym lang="en">SMHCE</Synonym>
+              <Synonym lang="en">muscle embryonic myosin heavy chain 3</Synonym>
+              <Synonym lang="en">myosin, skeletal, heavy chain, embryonic 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109063</Reference>
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+              <ExternalReference id="31584">
+                <Source>Genatlas</Source>
+                <Reference>MYH3</Reference>
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+              <ExternalReference id="31582">
+                <Source>HGNC</Source>
+                <Reference>7573</Reference>
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+              <ExternalReference id="31581">
+                <Source>OMIM</Source>
+                <Reference>160720</Reference>
+              </ExternalReference>
+              <ExternalReference id="57256">
+                <Source>Reactome</Source>
+                <Reference>P11055</Reference>
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+              <ExternalReference id="33564">
+                <Source>SwissProt</Source>
+                <Reference>P11055</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17p13.1</GeneLocus>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301736[PMID]</SourceOfValidation>
+          <Gene id="16059">
+            <Name lang="en">filamin B</Name>
+            <Symbol>FLNB</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABP-278</Synonym>
+              <Synonym lang="en">FH1</Synonym>
+              <Synonym lang="en">TABP</Synonym>
+              <Synonym lang="en">TAP</Synonym>
+              <Synonym lang="en">actin binding protein 278</Synonym>
+              <Synonym lang="en">beta filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136068</Reference>
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+              <ExternalReference id="29509">
+                <Source>Genatlas</Source>
+                <Reference>FLNB</Reference>
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+                <Reference>3755</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603381</Reference>
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+              <ExternalReference id="58038">
+                <Source>Reactome</Source>
+                <Reference>O75369</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75369</Reference>
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+                <GeneLocus>3p14.3</GeneLocus>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=425</ExpertLink>
+      <Name lang="en">Apolipoprotein A-I deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>8240372[PMID]_8282791[PMID]</SourceOfValidation>
+          <Gene id="15936">
+            <Name lang="en">apolipoprotein A1</Name>
+            <Symbol>APOA1</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118137</Reference>
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+              <ExternalReference id="28881">
+                <Source>Genatlas</Source>
+                <Reference>APOA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>600</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02647</Reference>
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+          <SourceOfValidation>15158913[PMID]_22959828[PMID]</SourceOfValidation>
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+            <Name lang="en">ATP binding cassette subfamily A member 1</Name>
+            <Symbol>ABCA1</Symbol>
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+              <Synonym lang="en">TGD</Synonym>
+              <Synonym lang="en">Tangier disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165029</Reference>
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+                <Reference>ABCA1</Reference>
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+                <Reference>29</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>O95477</Reference>
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+      <Name lang="en">Tetraamelia-multiple malformations syndrome</Name>
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+              <Synonym lang="en">MGC35555</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147655</Reference>
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+                <Reference>Q6UXX9</Reference>
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+                <Reference>610575</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RSPO2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q6UXX9</Reference>
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+          <SourceOfValidation>14872406[PMID]_20301453[PMID]</SourceOfValidation>
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+            <Name lang="en">Wnt family member 3</Name>
+            <Symbol>WNT3</Symbol>
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+              <Synonym lang="en">MGC138321</Synonym>
+              <Synonym lang="en">MGC138323</Synonym>
+              <Synonym lang="en">WNT-3 proto-oncogene protein</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108379</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P56703</Reference>
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+                <Reference>P56703</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276198</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 36</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="20398">
+            <Name lang="en">NOP56 ribonucleoprotein</Name>
+            <Symbol>NOP56</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SCA36</Synonym>
+              <Synonym lang="en">spinocerebellar ataxia 36</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60527">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101361</Reference>
+              </ExternalReference>
+              <ExternalReference id="100001">
+                <Source>Genatlas</Source>
+                <Reference>NOP56</Reference>
+              </ExternalReference>
+              <ExternalReference id="53883">
+                <Source>HGNC</Source>
+                <Reference>15911</Reference>
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+              <ExternalReference id="53884">
+                <Source>OMIM</Source>
+                <Reference>614154</Reference>
+              </ExternalReference>
+              <ExternalReference id="60528">
+                <Source>Reactome</Source>
+                <Reference>O00567</Reference>
+              </ExternalReference>
+              <ExternalReference id="53885">
+                <Source>SwissProt</Source>
+                <Reference>O00567</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18945">
+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="20354">
+      <OrphaCode>276193</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276193</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 35</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20397">
+            <Name lang="en">transglutaminase 6</Name>
+            <Symbol>TGM6</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">SCA35</Synonym>
+              <Synonym lang="en">TGY</Synonym>
+              <Synonym lang="en">dJ734P14.3</Synonym>
+              <Synonym lang="en">protein-glutamine gamma-glutamyltransferase 6</Synonym>
+              <Synonym lang="en">spinocerebellar ataxia 35</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Source>Genatlas</Source>
+                <Reference>TGM6</Reference>
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+              <ExternalReference id="53878">
+                <Source>HGNC</Source>
+                <Reference>16255</Reference>
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+              <ExternalReference id="53879">
+                <Source>OMIM</Source>
+                <Reference>613900</Reference>
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+              <ExternalReference id="53880">
+                <Source>SwissProt</Source>
+                <Reference>O95932</Reference>
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+              <ExternalReference id="60526">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166948</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="2883">
+      <OrphaCode>3226</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3226</ExpertLink>
+      <Name lang="en">Deafness-lymphedema-leukemia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20311">
+            <Name lang="en">GATA binding protein 2</Name>
+            <Symbol>GATA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NFE1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58359">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179348</Reference>
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+              <ExternalReference id="53182">
+                <Source>Genatlas</Source>
+                <Reference>GATA2</Reference>
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+              <ExternalReference id="53180">
+                <Source>HGNC</Source>
+                <Reference>4171</Reference>
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+              <ExternalReference id="53181">
+                <Source>OMIM</Source>
+                <Reference>137295</Reference>
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+              <ExternalReference id="58360">
+                <Source>Reactome</Source>
+                <Reference>P23769</Reference>
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+              <ExternalReference id="53183">
+                <Source>SwissProt</Source>
+                <Reference>P23769</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>3q21.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="20353">
+      <OrphaCode>276183</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276183</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 32</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="22892">
+            <Name lang="en">spinocerebellar ataxia 32</Name>
+            <Symbol>SCA32</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+            <ExternalReferenceList count="1">
+              <ExternalReference id="90328">
+                <Source>HGNC</Source>
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+                <GeneLocus>7q32-q33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="20359">
+      <OrphaCode>276238</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276238</ExpertLink>
+      <Name lang="en">Machado-Joseph disease type 1</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="15339">
+            <Name lang="en">ataxin 3</Name>
+            <Symbol>ATXN3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ATX3</Synonym>
+              <Synonym lang="en">JOS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126321">
+                <Source>Reactome</Source>
+                <Reference>P54252</Reference>
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+              <ExternalReference id="60530">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066427</Reference>
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+              <ExternalReference id="26047">
+                <Source>Genatlas</Source>
+                <Reference>ATXN3</Reference>
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+                <Reference>7106</Reference>
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+                <Reference>607047</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P54252</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276234</ExpertLink>
+      <Name lang="en">Non-syndromic male infertility due to sperm motility disorder</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30122540[PMID]</SourceOfValidation>
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+            <Name lang="en">cilia and flagella associated protein 251</Name>
+            <Symbol>CFAP251</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CaM-IP4</Synonym>
+              <Synonym lang="en">MGC33630</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="133753">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158023</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TBY9</Reference>
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+                <Reference>618146</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28552195[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197748</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NDM7</Reference>
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+                <Reference>617558</Reference>
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+              <ExternalReference id="144486">
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+                <Reference>CFAP43</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28552195[PMID]</SourceOfValidation>
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+            <Name lang="en">cilia and flagella associated protein 44</Name>
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+              <Synonym lang="en">FLJ11142</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206530</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96MT7</Reference>
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+                <Reference>617559</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>30686508[PMID]</SourceOfValidation>
+          <Gene id="28250">
+            <Name lang="en">armadillo repeat containing 2</Name>
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+              <Synonym lang="en">DKFZp434P0714</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118690</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30929735[PMID]</SourceOfValidation>
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+            <Name lang="en">tetratricopeptide repeat domain 21A</Name>
+            <Symbol>TTC21A</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168026</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>AK7</Symbol>
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+              <Synonym lang="en">FLJ32864</Synonym>
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+                <Reference>20091</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140057</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96M32</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">cilia and flagella associated protein 65</Name>
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+              <Synonym lang="en">DKFZp434O0527</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181378</Reference>
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+                <Reference>Q6ZU64</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614270</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>29606301[PMID]</SourceOfValidation>
+          <Gene id="27179">
+            <Name lang="en">cilia and flagella associated protein 69</Name>
+            <Symbol>CFAP69</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FAP69</Synonym>
+              <Synonym lang="en">FLJ21062</Synonym>
+              <Synonym lang="en">flagellar protein 69 homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">hypothetical protein FLJ21062</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="158786">
+                <Source>HGNC</Source>
+                <Reference>26107</Reference>
+              </ExternalReference>
+              <ExternalReference id="158787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105792</Reference>
+              </ExternalReference>
+              <ExternalReference id="158788">
+                <Source>SwissProt</Source>
+                <Reference>A5D8W1</Reference>
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+              <ExternalReference id="158789">
+                <Source>OMIM</Source>
+                <Reference>617949</Reference>
+              </ExternalReference>
+              <ExternalReference id="158790">
+                <Source>Genatlas</Source>
+                <Reference>CFAP69</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="49009">
+                <GeneLocus>7q21.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34415320[PMID]</SourceOfValidation>
+          <Gene id="30215">
+            <Name lang="en">A-kinase anchoring protein 4</Name>
+            <Symbol>AKAP4</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">A-kinase anchor protein 82 kDa</Synonym>
+              <Synonym lang="en">AKAP82</Synonym>
+              <Synonym lang="en">CT99</Synonym>
+              <Synonym lang="en">Fsc1</Synonym>
+              <Synonym lang="en">HI</Synonym>
+              <Synonym lang="en">cancer/testis antigen 99</Synonym>
+              <Synonym lang="en">hAKAP82</Synonym>
+              <Synonym lang="en">p82</Synonym>
+              <Synonym lang="en">protein kinase A anchoring protein 4</Synonym>
+              <Synonym lang="en">testis-specific gene HI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189779">
+                <Source>HGNC</Source>
+                <Reference>374</Reference>
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+              <ExternalReference id="192256">
+                <Source>OMIM</Source>
+                <Reference>300185</Reference>
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+              <ExternalReference id="192255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147081</Reference>
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+              <ExternalReference id="201177">
+                <Source>SwissProt</Source>
+                <Reference>Q5JQC9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28548327[PMID]</SourceOfValidation>
+          <Gene id="26527">
+            <Name lang="en">sperm associated antigen 17</Name>
+            <Symbol>SPAG17</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CT143</Synonym>
+              <Synonym lang="en">FLJ34497</Synonym>
+              <Synonym lang="en">PF6</Synonym>
+              <Synonym lang="en">RP4-776P7.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="155718">
+                <Source>HGNC</Source>
+                <Reference>26620</Reference>
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+              <ExternalReference id="155719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155761</Reference>
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+              <ExternalReference id="155720">
+                <Source>SwissProt</Source>
+                <Reference>Q6Q759</Reference>
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+              <ExternalReference id="155721">
+                <Source>OMIM</Source>
+                <Reference>616554</Reference>
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+              <ExternalReference id="155722">
+                <Source>Genatlas</Source>
+                <Reference>SPAG17</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="44425">
+                <GeneLocus>1p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33626338[PMID]</SourceOfValidation>
+          <Gene id="30674">
+            <Name lang="en">actin like 9</Name>
+            <Symbol>ACTL9</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="200302">
+                <Source>HGNC</Source>
+                <Reference>28494</Reference>
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+              <ExternalReference id="200924">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181786</Reference>
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+              <ExternalReference id="200925">
+                <Source>OMIM</Source>
+                <Reference>619251</Reference>
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+              <ExternalReference id="200926">
+                <Source>SwissProt</Source>
+                <Reference>Q8TC94</Reference>
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+            <LocusList count="1">
+              <Locus id="80827">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30137358[PMID]</SourceOfValidation>
+          <Gene id="27703">
+            <Name lang="en">fibrous sheath interacting protein 2</Name>
+            <Symbol>FSIP2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ34780</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="161258">
+                <Source>HGNC</Source>
+                <Reference>21675</Reference>
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+              <ExternalReference id="161259">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188738</Reference>
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+              <ExternalReference id="161260">
+                <Source>SwissProt</Source>
+                <Reference>Q5CZC0</Reference>
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+              <ExternalReference id="161261">
+                <Source>OMIM</Source>
+                <Reference>615796</Reference>
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+              <Locus id="50151">
+                <GeneLocus>2q32.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31621862[PMID]</SourceOfValidation>
+          <Gene id="28733">
+            <Name lang="en">cilia and flagella associated protein 70</Name>
+            <Symbol>CFAP70</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ25765</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="179476">
+                <Source>HGNC</Source>
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+              <ExternalReference id="179477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156042</Reference>
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+              <ExternalReference id="179478">
+                <Source>SwissProt</Source>
+                <Reference>Q5T0N1</Reference>
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+              <ExternalReference id="179479">
+                <Source>OMIM</Source>
+                <Reference>618661</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31735292[PMID]_31735294[PMID]</SourceOfValidation>
+          <Gene id="28933">
+            <Name lang="en">tetratricopeptide repeat domain 29</Name>
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+              <Synonym lang="en">NYD-SP14</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="180432">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137473</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NA56</Reference>
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+                <Source>OMIM</Source>
+                <Reference>618735</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19344877[PMID]</SourceOfValidation>
+          <Gene id="20399">
+            <Name lang="en">cation channel sperm associated 1</Name>
+            <Symbol>CATSPER1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CATSPER</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175294</Reference>
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+              <ExternalReference id="53890">
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23582645[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112053</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">septin 12</Name>
+            <Symbol>SEPTIN12</Symbol>
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+              <Synonym lang="en">FLJ25410</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">dynein axonemal heavy chain 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187775</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">sperm flagellar 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276223</ExpertLink>
+      <Name lang="en">Mucopolysaccharidosis type 6, slowly progressing</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">arylsulfatase B</Name>
+            <Symbol>ARSB</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000113273</Reference>
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+                <Source>HGNC</Source>
+                <Reference>714</Reference>
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+                <Reference>611542</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P15848</Reference>
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+                <Reference>P15848</Reference>
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+      <Name lang="en">Mucopolysaccharidosis type 6, rapidly progressing</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+            <Name lang="en">arylsulfatase B</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P15848</Reference>
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+                <Reference>P15848</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>276244</OrphaCode>
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+      <Name lang="en">Machado-Joseph disease type 3</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Synonym lang="en">JOS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000066427</Reference>
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+                <Reference>ATXN3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7106</Reference>
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+                <Reference>P54252</Reference>
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+      <Name lang="en">Machado-Joseph disease type 2</Name>
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+                <Reference>ENSG00000066427</Reference>
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+                <Reference>7106</Reference>
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+    <Disorder id="2896">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3237</ExpertLink>
+      <Name lang="en">Multiple synostoses syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16532400[PMID]</SourceOfValidation>
+          <Gene id="16114">
+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BMP14</Synonym>
+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="29775">
+                <Source>OMIM</Source>
+                <Reference>601146</Reference>
+              </ExternalReference>
+              <ExternalReference id="82927">
+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
+              </ExternalReference>
+              <ExternalReference id="33129">
+                <Source>SwissProt</Source>
+                <Reference>P43026</Reference>
+              </ExternalReference>
+              <ExternalReference id="57987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
+              </ExternalReference>
+              <ExternalReference id="29774">
+                <Source>Genatlas</Source>
+                <Reference>GDF5</Reference>
+              </ExternalReference>
+              <ExternalReference id="29776">
+                <Source>HGNC</Source>
+                <Reference>4220</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22773">
+                <GeneLocus>20q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20503332[PMID]_25241334[PMID]</SourceOfValidation>
+          <Gene id="16557">
+            <Name lang="en">noggin</Name>
+            <Symbol>NOG</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58061">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183691</Reference>
+              </ExternalReference>
+              <ExternalReference id="31857">
+                <Source>Genatlas</Source>
+                <Reference>NOG</Reference>
+              </ExternalReference>
+              <ExternalReference id="31855">
+                <Source>HGNC</Source>
+                <Reference>7866</Reference>
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+              <ExternalReference id="31854">
+                <Source>OMIM</Source>
+                <Reference>602991</Reference>
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+              <ExternalReference id="58062">
+                <Source>Reactome</Source>
+                <Reference>Q13253</Reference>
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+              <ExternalReference id="33622">
+                <Source>SwissProt</Source>
+                <Reference>Q13253</Reference>
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+            <LocusList count="1">
+              <Locus id="9487">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19589401[PMID]</SourceOfValidation>
+          <Gene id="18470">
+            <Name lang="en">fibroblast growth factor 9</Name>
+            <Symbol>FGF9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">glia-activating factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58361">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102678</Reference>
+              </ExternalReference>
+              <ExternalReference id="42441">
+                <Source>Genatlas</Source>
+                <Reference>FGF9</Reference>
+              </ExternalReference>
+              <ExternalReference id="42442">
+                <Source>HGNC</Source>
+                <Reference>3687</Reference>
+              </ExternalReference>
+              <ExternalReference id="42443">
+                <Source>OMIM</Source>
+                <Reference>600921</Reference>
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+              <ExternalReference id="58362">
+                <Source>Reactome</Source>
+                <Reference>P31371</Reference>
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+              <ExternalReference id="42444">
+                <Source>SwissProt</Source>
+                <Reference>P31371</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22729">
+                <GeneLocus>13q12.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20373">
+      <OrphaCode>276405</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=276405</ExpertLink>
+      <Name lang="en">Hyperbiliverdinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21278388[PMID]</SourceOfValidation>
+          <Gene id="20549">
+            <Name lang="en">biliverdin reductase A</Name>
+            <Symbol>BLVRA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="54330">
+                <Source>OMIM</Source>
+                <Reference>109750</Reference>
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+              <ExternalReference id="60540">
+                <Source>Reactome</Source>
+                <Reference>P53004</Reference>
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+              <ExternalReference id="54332">
+                <Source>SwissProt</Source>
+                <Reference>P53004</Reference>
+              </ExternalReference>
+              <ExternalReference id="60539">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106605</Reference>
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+              <ExternalReference id="54331">
+                <Source>Genatlas</Source>
+                <Reference>BLVRA</Reference>
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+              <ExternalReference id="54329">
+                <Source>HGNC</Source>
+                <Reference>1062</Reference>
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+                <GeneLocus>7p13</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2907">
+      <OrphaCode>3250</OrphaCode>
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+      <Name lang="en">Proximal symphalangism</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>18283415[PMID]_16892395[PMID]</SourceOfValidation>
+          <Gene id="16114">
+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BMP14</Synonym>
+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="29775">
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+              <ExternalReference id="82927">
+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
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+              <ExternalReference id="33129">
+                <Source>SwissProt</Source>
+                <Reference>P43026</Reference>
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+              <ExternalReference id="57987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+              <ExternalReference id="29774">
+                <Source>Genatlas</Source>
+                <Reference>GDF5</Reference>
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+                <Reference>4220</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11846737[PMID]_24326127[PMID]</SourceOfValidation>
+          <Gene id="16557">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183691</Reference>
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+              <ExternalReference id="31857">
+                <Source>Genatlas</Source>
+                <Reference>NOG</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7866</Reference>
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+              <ExternalReference id="58062">
+                <Source>Reactome</Source>
+                <Reference>Q13253</Reference>
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+              <ExternalReference id="33622">
+                <Source>SwissProt</Source>
+                <Reference>Q13253</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="2910">
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+      <Name lang="en">Filippi syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cytoskeleton associated protein 2 like</Name>
+            <Symbol>CKAP2L</Symbol>
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+              <Synonym lang="en">radial fiber and mitotic spindle</Synonym>
+              <Synonym lang="en">radmis</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95018">
+                <Source>SwissProt</Source>
+                <Reference>Q8IYA6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169607</Reference>
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+              <ExternalReference id="95017">
+                <Source>Genatlas</Source>
+                <Reference>CKAP2L</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>276556</OrphaCode>
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+      <Name lang="en">Hyperinsulinism due to UCP2 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19065272[PMID]_25733449[PMID]</SourceOfValidation>
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+            <Name lang="en">uncoupling protein 2</Name>
+            <Symbol>UCP2</Symbol>
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+              <Synonym lang="en">SLC25A8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>1067</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175567</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UCP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12518</Reference>
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+                <Reference>601693</Reference>
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+              <ExternalReference id="83339">
+                <Source>Reactome</Source>
+                <Reference>P55851</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P55851</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Ogden syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+            <Name lang="en">N-alpha-acetyltransferase 10, NatA catalytic subunit</Name>
+            <Symbol>NAA10</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">TE2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000102030</Reference>
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+              <ExternalReference id="54339">
+                <Source>Genatlas</Source>
+                <Reference>ARD1A</Reference>
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+                <Reference>18704</Reference>
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+                <Reference>P41227</Reference>
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+                <Reference>P41227</Reference>
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+      <Name lang="en">Cleft lip/palate-ectodermal dysplasia syndrome</Name>
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+            <Symbol>NECTIN1</Symbol>
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+              <Synonym lang="en">CLPED1</Synonym>
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+              <Synonym lang="en">OFC7</Synonym>
+              <Synonym lang="en">PRR</Synonym>
+              <Synonym lang="en">PRR1</Synonym>
+              <Synonym lang="en">PVRR1</Synonym>
+              <Synonym lang="en">SK-12</Synonym>
+              <Synonym lang="en">nectin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57140">
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+                <Reference>ENSG00000110400</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9706</Reference>
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+                <Reference>600644</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q15223</Reference>
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+                <Reference>Q15223</Reference>
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+      <OrphaCode>276435</OrphaCode>
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+      <Name lang="en">Lower motor neuron syndrome with late-adult onset</Name>
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+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25428574[PMID]</SourceOfValidation>
+          <Gene id="22968">
+            <Name lang="en">coiled-coil-helix-coiled-coil-helix domain containing 10</Name>
+            <Symbol>CHCHD10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MIX17 homolog A</Synonym>
+              <Synonym lang="en">MIX17A</Synonym>
+              <Synonym lang="en">N27C7-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126440">
+                <Source>Reactome</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+              <ExternalReference id="91952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000250479</Reference>
+              </ExternalReference>
+              <ExternalReference id="91707">
+                <Source>Genatlas</Source>
+                <Reference>CHCHD10</Reference>
+              </ExternalReference>
+              <ExternalReference id="91705">
+                <Source>HGNC</Source>
+                <Reference>15559</Reference>
+              </ExternalReference>
+              <ExternalReference id="91706">
+                <Source>OMIM</Source>
+                <Reference>615903</Reference>
+              </ExternalReference>
+              <ExternalReference id="91708">
+                <Source>SwissProt</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26863">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3280">
+      <OrphaCode>911</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=911</ExpertLink>
+      <Name lang="en">Combined immunodeficiency due to ZAP70 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301777[PMID]</SourceOfValidation>
+          <Gene id="15738">
+            <Name lang="en">zeta chain of T-cell receptor associated protein kinase 70</Name>
+            <Symbol>ZAP70</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">STD</Synonym>
+              <Synonym lang="en">ZAP-70</Synonym>
+              <Synonym lang="en">tyrosine-protein kinase ZAP-70</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="27955">
+                <Source>HGNC</Source>
+                <Reference>12858</Reference>
+              </ExternalReference>
+              <ExternalReference id="82856">
+                <Source>IUPHAR</Source>
+                <Reference>2285</Reference>
+              </ExternalReference>
+              <ExternalReference id="27954">
+                <Source>OMIM</Source>
+                <Reference>176947</Reference>
+              </ExternalReference>
+              <ExternalReference id="58519">
+                <Source>Reactome</Source>
+                <Reference>P43403</Reference>
+              </ExternalReference>
+              <ExternalReference id="32710">
+                <Source>SwissProt</Source>
+                <Reference>P43403</Reference>
+              </ExternalReference>
+              <ExternalReference id="58518">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115085</Reference>
+              </ExternalReference>
+              <ExternalReference id="27957">
+                <Source>Genatlas</Source>
+                <Reference>ZAP70</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22719">
+                <GeneLocus>2q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="3294">
+      <OrphaCode>746</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=746</ExpertLink>
+      <Name lang="en">Mitochondrial trifunctional protein deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16781">
+            <Name lang="en">hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha</Name>
+            <Symbol>HADHA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">GBP</Synonym>
+              <Synonym lang="en">LCEH</Synonym>
+              <Synonym lang="en">LCHAD</Synonym>
+              <Synonym lang="en">MTPA</Synonym>
+              <Synonym lang="en">gastrin-binding protein</Synonym>
+              <Synonym lang="en">long-chain 2-enoyl-CoA hydratase</Synonym>
+              <Synonym lang="en">long-chain-3-hydroxyacyl-CoA dehydrogenase</Synonym>
+              <Synonym lang="en">mitochondrial trifunctional protein, alpha subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084754</Reference>
+              </ExternalReference>
+              <ExternalReference id="34904">
+                <Source>Genatlas</Source>
+                <Reference>HADHA</Reference>
+              </ExternalReference>
+              <ExternalReference id="34902">
+                <Source>HGNC</Source>
+                <Reference>4801</Reference>
+              </ExternalReference>
+              <ExternalReference id="34905">
+                <Source>OMIM</Source>
+                <Reference>600890</Reference>
+              </ExternalReference>
+              <ExternalReference id="58525">
+                <Source>Reactome</Source>
+                <Reference>P40939</Reference>
+              </ExternalReference>
+              <ExternalReference id="34903">
+                <Source>SwissProt</Source>
+                <Reference>P40939</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22615">
+                <GeneLocus>2p23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16834">
+            <Name lang="en">hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta</Name>
+            <Symbol>HADHB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MTPB</Synonym>
+              <Synonym lang="en">mitochondrial trifunctional protein, beta subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="35178">
+                <Source>HGNC</Source>
+                <Reference>4803</Reference>
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+              <ExternalReference id="35177">
+                <Source>OMIM</Source>
+                <Reference>143450</Reference>
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+              <ExternalReference id="58523">
+                <Source>Reactome</Source>
+                <Reference>P55084</Reference>
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+              <ExternalReference id="35175">
+                <Source>SwissProt</Source>
+                <Reference>P55084</Reference>
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+              <ExternalReference id="58522">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138029</Reference>
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+              <ExternalReference id="35176">
+                <Source>Genatlas</Source>
+                <Reference>HADHB</Reference>
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+            <LocusList count="1">
+              <Locus id="21209">
+                <GeneLocus>2p23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="3295">
+      <OrphaCode>943</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=943</ExpertLink>
+      <Name lang="en">Malonic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24613099[PMID]</SourceOfValidation>
+          <Gene id="16412">
+            <Name lang="en">malonyl-CoA decarboxylase</Name>
+            <Symbol>MLYCD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MCD</Synonym>
+              <Synonym lang="en">hMCD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190396">
+                <Source>IUPHAR</Source>
+                <Reference>1275</Reference>
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+              <ExternalReference id="58526">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103150</Reference>
+              </ExternalReference>
+              <ExternalReference id="31190">
+                <Source>Genatlas</Source>
+                <Reference>MLYCD</Reference>
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+              <ExternalReference id="31188">
+                <Source>HGNC</Source>
+                <Reference>7150</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606761</Reference>
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+              <ExternalReference id="82994">
+                <Source>Reactome</Source>
+                <Reference>O95822</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95822</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">Hereditary methemoglobinemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>18820099[PMID]_18202104[PMID]</SourceOfValidation>
+          <Gene id="15830">
+            <Name lang="en">cytochrome b5 reductase 3</Name>
+            <Symbol>CYB5R3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NADH-cytochrome b5 reductase 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100243</Reference>
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+              <ExternalReference id="28392">
+                <Source>Genatlas</Source>
+                <Reference>CYB5R3</Reference>
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+              <ExternalReference id="28390">
+                <Source>HGNC</Source>
+                <Reference>2873</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613213</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00387</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00387</Reference>
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+          <Gene id="15829">
+            <Name lang="en">cytochrome b5 type A</Name>
+            <Symbol>CYB5A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166347</Reference>
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+                <Reference>CYB5A</Reference>
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+                <Reference>2570</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00167</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00167</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to hepatic glycogen synthase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">glycogen synthase 2</Name>
+            <Symbol>GYS2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>4707</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P54840</Reference>
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+      <Name lang="en">Dysbetalipoproteinemia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">apolipoprotein E</Name>
+            <Symbol>APOE</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>613</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Severe hereditary thrombophilia due to congenital protein S deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17849042[PMID]_19466456[PMID]</SourceOfValidation>
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+            <Name lang="en">protein S</Name>
+            <Symbol>PROS1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P07225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07225</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184500</Reference>
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+    <Disorder id="3266">
+      <OrphaCode>424</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=424</ExpertLink>
+      <Name lang="en">Familial hyperthyroidism due to mutations in TSH receptor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24947036[PMID]_23295291[PMID]</SourceOfValidation>
+          <Gene id="15670">
+            <Name lang="en">thyroid stimulating hormone receptor</Name>
+            <Symbol>TSHR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGR3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58497">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165409</Reference>
+              </ExternalReference>
+              <ExternalReference id="27637">
+                <Source>Genatlas</Source>
+                <Reference>TSHR</Reference>
+              </ExternalReference>
+              <ExternalReference id="27639">
+                <Source>HGNC</Source>
+                <Reference>12373</Reference>
+              </ExternalReference>
+              <ExternalReference id="82847">
+                <Source>IUPHAR</Source>
+                <Reference>255</Reference>
+              </ExternalReference>
+              <ExternalReference id="27638">
+                <Source>OMIM</Source>
+                <Reference>603372</Reference>
+              </ExternalReference>
+              <ExternalReference id="58498">
+                <Source>Reactome</Source>
+                <Reference>P16473</Reference>
+              </ExternalReference>
+              <ExternalReference id="32642">
+                <Source>SwissProt</Source>
+                <Reference>P16473</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7843">
+                <GeneLocus>14q24-q31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3277">
+      <OrphaCode>325</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=325</ExpertLink>
+      <Name lang="en">Congenital factor II deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25242243[PMID]_23852823[PMID]_20301327[PMID]</SourceOfValidation>
+          <Gene id="16013">
+            <Name lang="en">coagulation factor II, thrombin</Name>
+            <Symbol>F2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prepro-coagulation factor II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58507">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180210</Reference>
+              </ExternalReference>
+              <ExternalReference id="29269">
+                <Source>Genatlas</Source>
+                <Reference>F2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29271">
+                <Source>HGNC</Source>
+                <Reference>3535</Reference>
+              </ExternalReference>
+              <ExternalReference id="82909">
+                <Source>IUPHAR</Source>
+                <Reference>2362</Reference>
+              </ExternalReference>
+              <ExternalReference id="29270">
+                <Source>OMIM</Source>
+                <Reference>176930</Reference>
+              </ExternalReference>
+              <ExternalReference id="58508">
+                <Source>Reactome</Source>
+                <Reference>P00734</Reference>
+              </ExternalReference>
+              <ExternalReference id="33027">
+                <Source>SwissProt</Source>
+                <Reference>P00734</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3276">
+      <OrphaCode>343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=343</ExpertLink>
+      <Name lang="en">Hyperimmunoglobulinemia D with periodic fever</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11313769[PMID]_10369262[PMID]</SourceOfValidation>
+          <Gene id="16491">
+            <Name lang="en">mevalonate kinase</Name>
+            <Symbol>MVK</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LH receptor mRNA-binding protein</Synonym>
+              <Synonym lang="en">LRBP</Synonym>
+              <Synonym lang="en">MK</Synonym>
+              <Synonym lang="en">mevalonic aciduria</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110921</Reference>
+              </ExternalReference>
+              <ExternalReference id="31547">
+                <Source>Genatlas</Source>
+                <Reference>MVK</Reference>
+              </ExternalReference>
+              <ExternalReference id="31545">
+                <Source>HGNC</Source>
+                <Reference>7530</Reference>
+              </ExternalReference>
+              <ExternalReference id="83005">
+                <Source>IUPHAR</Source>
+                <Reference>640</Reference>
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+              <ExternalReference id="31544">
+                <Source>OMIM</Source>
+                <Reference>251170</Reference>
+              </ExternalReference>
+              <ExternalReference id="57236">
+                <Source>Reactome</Source>
+                <Reference>Q03426</Reference>
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+              <ExternalReference id="33556">
+                <Source>SwissProt</Source>
+                <Reference>Q03426</Reference>
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+            <LocusList count="1">
+              <Locus id="24533">
+                <GeneLocus>12q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="3279">
+      <OrphaCode>572</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572</ExpertLink>
+      <Name lang="en">Immunodeficiency by defective expression of MHC class II</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15202">
+            <Name lang="en">regulatory factor X5</Name>
+            <Symbol>RFX5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58513">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143390</Reference>
+              </ExternalReference>
+              <ExternalReference id="37330">
+                <Source>Genatlas</Source>
+                <Reference>RFX5</Reference>
+              </ExternalReference>
+              <ExternalReference id="25394">
+                <Source>HGNC</Source>
+                <Reference>9986</Reference>
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+              <ExternalReference id="25393">
+                <Source>OMIM</Source>
+                <Reference>601863</Reference>
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+              <ExternalReference id="33760">
+                <Source>SwissProt</Source>
+                <Reference>P48382</Reference>
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+              <ExternalReference id="143447">
+                <Source>Reactome</Source>
+                <Reference>P48382</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38599">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15203">
+            <Name lang="en">regulatory factor X associated ankyrin containing protein</Name>
+            <Symbol>RFXANK</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ANKRA1</Synonym>
+              <Synonym lang="en">BLS</Synonym>
+              <Synonym lang="en">DNA-binding protein RFXANK</Synonym>
+              <Synonym lang="en">F14150_1</Synonym>
+              <Synonym lang="en">MGC138628</Synonym>
+              <Synonym lang="en">RFX-B</Synonym>
+              <Synonym lang="en">RFX-Bdelta4</Synonym>
+              <Synonym lang="en">ankyrin repeat-containing regulatory factor X-associated protein</Synonym>
+              <Synonym lang="en">regulatory factor X subunit B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58514">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064490</Reference>
+              </ExternalReference>
+              <ExternalReference id="36710">
+                <Source>Genatlas</Source>
+                <Reference>RFXANK</Reference>
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+              <ExternalReference id="25398">
+                <Source>HGNC</Source>
+                <Reference>9987</Reference>
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+              <ExternalReference id="25397">
+                <Source>OMIM</Source>
+                <Reference>603200</Reference>
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+              <ExternalReference id="33761">
+                <Source>SwissProt</Source>
+                <Reference>O14593</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15204">
+            <Name lang="en">regulatory factor X associated protein</Name>
+            <Symbol>RFXAP</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58515">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133111</Reference>
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+              <ExternalReference id="37331">
+                <Source>Genatlas</Source>
+                <Reference>RFXAP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9988</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601861</Reference>
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+              <ExternalReference id="33762">
+                <Source>SwissProt</Source>
+                <Reference>O00287</Reference>
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+                <GeneLocus>13q13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
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+          <Gene id="15456">
+            <Name lang="en">class II major histocompatibility complex transactivator</Name>
+            <Symbol>CIITA</Symbol>
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+              <Synonym lang="en">NLR family, acid domain containing</Synonym>
+              <Synonym lang="en">NLRA</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179583</Reference>
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+                <Reference>CIITA</Reference>
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+                <Reference>7067</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P33076</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Herpes simplex virus encephalitis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">unc-93 homolog B1, TLR signaling regulator</Name>
+            <Symbol>UNC93B1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">UNC93</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110057</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UNC93B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13481</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H1C4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H1C4</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17872438[PMID]</SourceOfValidation>
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+            <Name lang="en">toll like receptor 3</Name>
+            <Symbol>TLR3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD283</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164342</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TLR3</Reference>
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+                <Reference>11849</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O15455</Reference>
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+            <Name lang="en">TIR domain containing adaptor molecule 1</Name>
+            <Symbol>TICAM1</Symbol>
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+              <Synonym lang="en">MGC35334</Synonym>
+              <Synonym lang="en">PRVTIRB</Synonym>
+              <Synonym lang="en">TICAM-1</Synonym>
+              <Synonym lang="en">TIR domain-containing adapter molecule 1</Synonym>
+              <Synonym lang="en">TIR domain-containing adaptor-inducing interferon-ß</Synonym>
+              <Synonym lang="en">TRIF</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127666</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18348</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607601</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8IUC6</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20832341[PMID]</SourceOfValidation>
+          <Gene id="20819">
+            <Name lang="en">TNF receptor associated factor 3</Name>
+            <Symbol>TRAF3</Symbol>
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+              <Synonym lang="en">CAP-1</Synonym>
+              <Synonym lang="en">CD40bp</Synonym>
+              <Synonym lang="en">CRAF1</Synonym>
+              <Synonym lang="en">LAP1</Synonym>
+              <Synonym lang="en">RNF118</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131323</Reference>
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+                <Reference>TRAF3</Reference>
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+                <Reference>12033</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13114</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22851595[PMID]</SourceOfValidation>
+          <Gene id="21615">
+            <Name lang="en">TANK binding kinase 1</Name>
+            <Symbol>TBK1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000183735</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+      <Name lang="en">Systemic primary carnitine deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22989098[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 22 member 5</Name>
+            <Symbol>SLC22A5</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197375</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O76082</Reference>
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+      <Name lang="en">Essential fructosuria</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>7833921[PMID]_19237742[PMID]</SourceOfValidation>
+          <Gene id="16300">
+            <Name lang="en">ketohexokinase</Name>
+            <Symbol>KHK</Symbol>
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+              <Synonym lang="en">fructokinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138030</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>614058</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P50053</Reference>
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+                <Reference>P50053</Reference>
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+      <Name lang="en">Infantile Krabbe disease</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197746</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+    </Disorder>
+    <Disorder id="3297">
+      <OrphaCode>6</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=6</ExpertLink>
+      <Name lang="en">3-methylcrotonyl-CoA carboxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22642865[PMID]_22264772[PMID]</SourceOfValidation>
+          <Gene id="16383">
+            <Name lang="en">methylcrotonyl-CoA carboxylase subunit 1</Name>
+            <Symbol>MCCC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">3-methylcrotonyl-CoA carboxylase biotin containing subunit</Synonym>
+              <Synonym lang="en">MCCA</Synonym>
+              <Synonym lang="en">MCCCa</Synonym>
+              <Synonym lang="en">methylcrotonoyl-CoA carboxylase alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078070</Reference>
+              </ExternalReference>
+              <ExternalReference id="31052">
+                <Source>Genatlas</Source>
+                <Reference>MCCC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31050">
+                <Source>HGNC</Source>
+                <Reference>6936</Reference>
+              </ExternalReference>
+              <ExternalReference id="31049">
+                <Source>OMIM</Source>
+                <Reference>609010</Reference>
+              </ExternalReference>
+              <ExternalReference id="58530">
+                <Source>Reactome</Source>
+                <Reference>Q96RQ3</Reference>
+              </ExternalReference>
+              <ExternalReference id="33447">
+                <Source>SwissProt</Source>
+                <Reference>Q96RQ3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9175">
+                <GeneLocus>3q27.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22642865[PMID]_22264772[PMID]</SourceOfValidation>
+          <Gene id="16384">
+            <Name lang="en">methylcrotonyl-CoA carboxylase subunit 2</Name>
+            <Symbol>MCCC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">3-methylcrotonyl-CoA carboxylase non-biotin containing subunit</Synonym>
+              <Synonym lang="en">MCCB</Synonym>
+              <Synonym lang="en">MCCCß</Synonym>
+              <Synonym lang="en">methylcrotonoyl-CoA carboxylase beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131844</Reference>
+              </ExternalReference>
+              <ExternalReference id="31054">
+                <Source>Genatlas</Source>
+                <Reference>MCCC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31056">
+                <Source>HGNC</Source>
+                <Reference>6937</Reference>
+              </ExternalReference>
+              <ExternalReference id="31055">
+                <Source>OMIM</Source>
+                <Reference>609014</Reference>
+              </ExternalReference>
+              <ExternalReference id="58532">
+                <Source>Reactome</Source>
+                <Reference>Q9HCC0</Reference>
+              </ExternalReference>
+              <ExternalReference id="33448">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCC0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21455">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3296">
+      <OrphaCode>20</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=20</ExpertLink>
+      <Name lang="en">3-hydroxy-3-methylglutaric aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19177531[PMID]</SourceOfValidation>
+          <Gene id="16207">
+            <Name lang="en">3-hydroxy-3-methylglutaryl-CoA lyase</Name>
+            <Symbol>HMGCL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HL</Synonym>
+              <Synonym lang="en">hydroxymethylglutaricaciduria</Synonym>
+              <Synonym lang="en">hydroxymethylglutaryl-CoA lyase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58527">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117305</Reference>
+              </ExternalReference>
+              <ExternalReference id="30227">
+                <Source>Genatlas</Source>
+                <Reference>HMGCL</Reference>
+              </ExternalReference>
+              <ExternalReference id="30225">
+                <Source>HGNC</Source>
+                <Reference>5005</Reference>
+              </ExternalReference>
+              <ExternalReference id="51400">
+                <Source>OMIM</Source>
+                <Reference>613898</Reference>
+              </ExternalReference>
+              <ExternalReference id="58528">
+                <Source>Reactome</Source>
+                <Reference>P35914</Reference>
+              </ExternalReference>
+              <ExternalReference id="33231">
+                <Source>SwissProt</Source>
+                <Reference>P35914</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3306">
+      <OrphaCode>714</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=714</ExpertLink>
+      <Name lang="en">Hemolytic anemia due to diphosphoglycerate mutase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15054810[PMID]</SourceOfValidation>
+          <Gene id="15375">
+            <Name lang="en">bisphosphoglycerate mutase</Name>
+            <Symbol>BPGM</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26217">
+                <Source>HGNC</Source>
+                <Reference>1093</Reference>
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+              <ExternalReference id="51398">
+                <Source>OMIM</Source>
+                <Reference>613896</Reference>
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+              <ExternalReference id="33932">
+                <Source>SwissProt</Source>
+                <Reference>P07738</Reference>
+              </ExternalReference>
+              <ExternalReference id="58537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172331</Reference>
+              </ExternalReference>
+              <ExternalReference id="26215">
+                <Source>Genatlas</Source>
+                <Reference>BPGM</Reference>
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+              <ExternalReference id="100292">
+                <Source>Reactome</Source>
+                <Reference>P07738</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19159">
+                <GeneLocus>7q33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3304">
+      <OrphaCode>712</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=712</ExpertLink>
+      <Name lang="en">Hemolytic anemia due to glucophosphate isomerase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9446754[PMID]_22782259[PMID]</SourceOfValidation>
+          <Gene id="16162">
+            <Name lang="en">glucose-6-phosphate isomerase</Name>
+            <Symbol>GPI</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AMF</Synonym>
+              <Synonym lang="en">NLK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105220</Reference>
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+              <ExternalReference id="30010">
+                <Source>Genatlas</Source>
+                <Reference>GPI</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4458</Reference>
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+              <ExternalReference id="30007">
+                <Source>OMIM</Source>
+                <Reference>172400</Reference>
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+              <ExternalReference id="58536">
+                <Source>Reactome</Source>
+                <Reference>P06744</Reference>
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+              <ExternalReference id="33181">
+                <Source>SwissProt</Source>
+                <Reference>P06744</Reference>
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+                <GeneLocus>19q13.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18519">
+      <OrphaCode>206546</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206546</ExpertLink>
+      <Name lang="en">Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15876">
+            <Name lang="en">dystrophin</Name>
+            <Symbol>DMD</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">DXS142</Synonym>
+              <Synonym lang="en">DXS164</Synonym>
+              <Synonym lang="en">DXS206</Synonym>
+              <Synonym lang="en">DXS230</Synonym>
+              <Synonym lang="en">DXS239</Synonym>
+              <Synonym lang="en">DXS268</Synonym>
+              <Synonym lang="en">DXS269</Synonym>
+              <Synonym lang="en">DXS270</Synonym>
+              <Synonym lang="en">DXS272</Synonym>
+              <Synonym lang="en">muscular dystrophy, Duchenne and Becker types</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198947</Reference>
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+              <ExternalReference id="28608">
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+                <Reference>DMD</Reference>
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+                <Reference>300377</Reference>
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+              <ExternalReference id="57455">
+                <Source>Reactome</Source>
+                <Reference>P11532</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11532</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>206554</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206554</ExpertLink>
+      <Name lang="en">Fukutin-related limb-girdle muscular dystrophy R13</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
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+            <Name lang="en">fukutin</Name>
+            <Symbol>FKTN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGMD2M</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106692</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FKTN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3622</Reference>
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+                <Reference>607440</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75072</Reference>
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+                <GeneLocus>9q31.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>206549</OrphaCode>
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+      <Name lang="en">Anoctamin-5-related limb-girdle muscular dystrophy R12</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15628">
+            <Name lang="en">anoctamin 5</Name>
+            <Symbol>ANO5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GDD1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59072">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171714</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ANO5</Reference>
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+                <Reference>27337</Reference>
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+              <ExternalReference id="27438">
+                <Source>OMIM</Source>
+                <Reference>608662</Reference>
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+              <ExternalReference id="82835">
+                <Source>Reactome</Source>
+                <Reference>Q75V66</Reference>
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+              <ExternalReference id="32600">
+                <Source>SwissProt</Source>
+                <Reference>Q75V66</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>206564</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206564</ExpertLink>
+      <Name lang="en">POMGNT1-related limb-girdle muscular dystrophy R15</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301582[PMID]_18195152[PMID]</SourceOfValidation>
+          <Gene id="15121">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)</Name>
+            <Symbol>POMGNT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20277</Synonym>
+              <Synonym lang="en">LGMD2O</Synonym>
+              <Synonym lang="en">MGAT1.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100284">
+                <Source>Reactome</Source>
+                <Reference>Q8WZA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085998</Reference>
+              </ExternalReference>
+              <ExternalReference id="25010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>19139</Reference>
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+                <Reference>606822</Reference>
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+              <ExternalReference id="32812">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZA1</Reference>
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+                <GeneLocus>1p34.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>206559</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206559</ExpertLink>
+      <Name lang="en">POMT2-related limb-girdle muscular dystrophy R14</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15123">
+            <Name lang="en">protein O-mannosyltransferase 2</Name>
+            <Symbol>POMT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dolichyl-phosphate-mannose--protein mannosyltransferase</Synonym>
+              <Synonym lang="en">LGMD2N</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100286">
+                <Source>Reactome</Source>
+                <Reference>Q9UKY4</Reference>
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+              <ExternalReference id="58897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009830</Reference>
+              </ExternalReference>
+              <ExternalReference id="36782">
+                <Source>Genatlas</Source>
+                <Reference>POMT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25021">
+                <Source>HGNC</Source>
+                <Reference>19743</Reference>
+              </ExternalReference>
+              <ExternalReference id="25020">
+                <Source>OMIM</Source>
+                <Reference>607439</Reference>
+              </ExternalReference>
+              <ExternalReference id="33234">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21057">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18527">
+      <OrphaCode>206580</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206580</ExpertLink>
+      <Name lang="en">Autosomal recessive lower motor neuron disease with childhood onset</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17564964[PMID]</SourceOfValidation>
+          <Gene id="17719">
+            <Name lang="en">pleckstrin homology and RhoGEF domain containing G5</Name>
+            <Symbol>PLEKHG5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEF720</Synonym>
+              <Synonym lang="en">KIAA0720</Synonym>
+              <Synonym lang="en">Syx</Synonym>
+              <Synonym lang="en">Tech</Synonym>
+              <Synonym lang="en">synectin-binding guanine exchange factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171680</Reference>
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+              <ExternalReference id="39118">
+                <Source>Genatlas</Source>
+                <Reference>PLEKHG5</Reference>
+              </ExternalReference>
+              <ExternalReference id="39119">
+                <Source>HGNC</Source>
+                <Reference>29105</Reference>
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+              <ExternalReference id="39120">
+                <Source>OMIM</Source>
+                <Reference>611101</Reference>
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+              <ExternalReference id="60295">
+                <Source>Reactome</Source>
+                <Reference>O94827</Reference>
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+              <ExternalReference id="39121">
+                <Source>SwissProt</Source>
+                <Reference>O94827</Reference>
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+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="18496">
+      <OrphaCode>206443</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206443</ExpertLink>
+      <Name lang="en">Late-infantile/juvenile Krabbe disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301416[PMID]_23319190[PMID]</SourceOfValidation>
+          <Gene id="16092">
+            <Name lang="en">galactosylceramidase</Name>
+            <Symbol>GALC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Krabbe disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="33107">
+                <Source>SwissProt</Source>
+                <Reference>P54803</Reference>
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+              <ExternalReference id="60292">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054983</Reference>
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+              <ExternalReference id="29665">
+                <Source>Genatlas</Source>
+                <Reference>GALC</Reference>
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+              <ExternalReference id="29667">
+                <Source>HGNC</Source>
+                <Reference>4115</Reference>
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+              <ExternalReference id="29666">
+                <Source>OMIM</Source>
+                <Reference>606890</Reference>
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+              <ExternalReference id="60293">
+                <Source>Reactome</Source>
+                <Reference>P54803</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>14q31.3</GeneLocus>
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+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18497">
+      <OrphaCode>206448</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=206448</ExpertLink>
+      <Name lang="en">Adult Krabbe disease</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>20301416[PMID]_23319190[PMID]</SourceOfValidation>
+          <Gene id="16092">
+            <Name lang="en">galactosylceramidase</Name>
+            <Symbol>GALC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Krabbe disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33107">
+                <Source>SwissProt</Source>
+                <Reference>P54803</Reference>
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+              <ExternalReference id="60292">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054983</Reference>
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+              <ExternalReference id="29665">
+                <Source>Genatlas</Source>
+                <Reference>GALC</Reference>
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+              <ExternalReference id="29667">
+                <Source>HGNC</Source>
+                <Reference>4115</Reference>
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+              <ExternalReference id="29666">
+                <Source>OMIM</Source>
+                <Reference>606890</Reference>
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+              <ExternalReference id="60293">
+                <Source>Reactome</Source>
+                <Reference>P54803</Reference>
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+                <GeneLocus>14q31.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3207">
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+      <Name lang="en">Hypomyelination neuropathy-arthrogryposis syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24319099[PMID]</SourceOfValidation>
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+            <Name lang="en">contactin associated protein 1</Name>
+            <Symbol>CNTNAP1</Symbol>
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+              <Synonym lang="en">Caspr</Synonym>
+              <Synonym lang="en">neurexin 4</Synonym>
+              <Synonym lang="en">p190</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000108797</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CNTNAP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8011</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24319099[PMID]</SourceOfValidation>
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+            <Name lang="en">adenylate cyclase 6</Name>
+            <Symbol>ADCY6</Symbol>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174233</Reference>
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+            <Name lang="en">leucine rich repeat LGI family member 4</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Laron syndrome</Name>
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+            <Name lang="en">growth hormone receptor</Name>
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+                <Source>Reactome</Source>
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+            <Symbol>CCDC141</Symbol>
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+              <Synonym lang="en">coiled-coil protein associated with myosin II and DISC1</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163492</Reference>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>18682503[PMID]</SourceOfValidation>
+          <Gene id="15145">
+            <Name lang="en">prokineticin 2</Name>
+            <Symbol>PROK2</Symbol>
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+              <Synonym lang="en">protein Bv8 homolog</Synonym>
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+                <Reference>ENSG00000163421</Reference>
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+                <Reference>18455</Reference>
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+                <Reference>607002</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18682503[PMID]</SourceOfValidation>
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+            <Name lang="en">prokineticin receptor 2</Name>
+            <Symbol>PROKR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GPR73b</Synonym>
+              <Synonym lang="en">GPRg2</Synonym>
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+                <Reference>ENSG00000101292</Reference>
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+                <Reference>PROKR2</Reference>
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+              <ExternalReference id="25129">
+                <Source>HGNC</Source>
+                <Reference>15836</Reference>
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+              <ExternalReference id="82749">
+                <Source>IUPHAR</Source>
+                <Reference>336</Reference>
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+              <ExternalReference id="25128">
+                <Source>OMIM</Source>
+                <Reference>607123</Reference>
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+              <ExternalReference id="58430">
+                <Source>Reactome</Source>
+                <Reference>Q8NFJ6</Reference>
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+              <ExternalReference id="33257">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFJ6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18834967[PMID]</SourceOfValidation>
+          <Gene id="15443">
+            <Name lang="en">chromodomain helicase DNA binding protein 7</Name>
+            <Symbol>CHD7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ20357</Synonym>
+              <Synonym lang="en">FLJ20361</Synonym>
+              <Synonym lang="en">KIAA1416</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="56822">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171316</Reference>
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+              <ExternalReference id="26544">
+                <Source>Genatlas</Source>
+                <Reference>CHD7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20626</Reference>
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+              <ExternalReference id="36813">
+                <Source>OMIM</Source>
+                <Reference>608892</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9P2D1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643381[PMID]</SourceOfValidation>
+          <Gene id="15538">
+            <Name lang="en">SRY-box transcription factor 10</Name>
+            <Symbol>SOX10</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DOM</Synonym>
+              <Synonym lang="en">WS2E</Synonym>
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+              <Synonym lang="en">dominant megacolon, mouse, human homolog of</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100146</Reference>
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+              <ExternalReference id="27008">
+                <Source>Genatlas</Source>
+                <Reference>SOX10</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11190</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P56693</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P56693</Reference>
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+                <GeneLocus>22q13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17235395[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
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+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23465708[PMID]</SourceOfValidation>
+          <Gene id="16192">
+            <Name lang="en">HESX homeobox 1</Name>
+            <Symbol>HESX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ANF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143259">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163666</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4877</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21168128[PMID]</SourceOfValidation>
+          <Gene id="16284">
+            <Name lang="en">anosmin 1</Name>
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+              <Synonym lang="en">WAP four-disulfide core domain 19</Synonym>
+              <Synonym lang="en">WFDC19</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="95480">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18596921[PMID]_20463092[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">semaphorin 3A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643382[PMID]</SourceOfValidation>
+          <Gene id="22158">
+            <Name lang="en">dual specificity phosphatase 6</Name>
+            <Symbol>DUSP6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MKP-3</Synonym>
+              <Synonym lang="en">PYST1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83846">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139318</Reference>
+              </ExternalReference>
+              <ExternalReference id="79655">
+                <Source>Genatlas</Source>
+                <Reference>DUSP6</Reference>
+              </ExternalReference>
+              <ExternalReference id="79653">
+                <Source>HGNC</Source>
+                <Reference>3072</Reference>
+              </ExternalReference>
+              <ExternalReference id="79654">
+                <Source>OMIM</Source>
+                <Reference>602748</Reference>
+              </ExternalReference>
+              <ExternalReference id="83845">
+                <Source>Reactome</Source>
+                <Reference>Q16828</Reference>
+              </ExternalReference>
+              <ExternalReference id="79656">
+                <Source>SwissProt</Source>
+                <Reference>Q16828</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18561">
+                <GeneLocus>12q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643382[PMID]</SourceOfValidation>
+          <Gene id="22159">
+            <Name lang="en">sprouty RTK signaling antagonist 4</Name>
+            <Symbol>SPRY4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143149">
+                <Source>Reactome</Source>
+                <Reference>Q9C004</Reference>
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+              <ExternalReference id="83847">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187678</Reference>
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+              <ExternalReference id="79664">
+                <Source>Genatlas</Source>
+                <Reference>SPRY4</Reference>
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+              <ExternalReference id="79662">
+                <Source>HGNC</Source>
+                <Reference>15533</Reference>
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+              <ExternalReference id="79663">
+                <Source>OMIM</Source>
+                <Reference>607984</Reference>
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+              <ExternalReference id="79665">
+                <Source>SwissProt</Source>
+                <Reference>Q9C004</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643382[PMID]</SourceOfValidation>
+          <Gene id="22160">
+            <Name lang="en">fibronectin leucine rich transmembrane protein 3</Name>
+            <Symbol>FLRT3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZU0</Reference>
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+              <ExternalReference id="83848">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125848</Reference>
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+              <ExternalReference id="79671">
+                <Source>Genatlas</Source>
+                <Reference>FLRT3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3762</Reference>
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+              <ExternalReference id="79670">
+                <Source>OMIM</Source>
+                <Reference>604808</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZU0</Reference>
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+                <GeneLocus>20p12.1</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25192046[PMID]</SourceOfValidation>
+          <Gene id="23006">
+            <Name lang="en">FEZ family zinc finger 1</Name>
+            <Symbol>FEZF1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="94606">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128610</Reference>
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+              <ExternalReference id="94604">
+                <Source>Genatlas</Source>
+                <Reference>FEZF1</Reference>
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+              <ExternalReference id="94602">
+                <Source>HGNC</Source>
+                <Reference>22788</Reference>
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+              <ExternalReference id="94603">
+                <Source>OMIM</Source>
+                <Reference>613301</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>A0PJY2</Reference>
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+                <GeneLocus>7q31.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29202173[PMID]</SourceOfValidation>
+          <Gene id="19499">
+            <Name lang="en">DCC netrin 1 receptor</Name>
+            <Symbol>DCC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IGDCC1</Synonym>
+              <Synonym lang="en">NTN1R1</Synonym>
+              <Synonym lang="en">immunoglobulin superfamily, DCC subclass, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60425">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187323</Reference>
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+              <ExternalReference id="49585">
+                <Source>Genatlas</Source>
+                <Reference>DCC</Reference>
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+              <ExternalReference id="49586">
+                <Source>HGNC</Source>
+                <Reference>2701</Reference>
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+              <ExternalReference id="49588">
+                <Source>OMIM</Source>
+                <Reference>120470</Reference>
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+              <ExternalReference id="60426">
+                <Source>Reactome</Source>
+                <Reference>P43146</Reference>
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+              <ExternalReference id="49587">
+                <Source>SwissProt</Source>
+                <Reference>P43146</Reference>
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+                <GeneLocus>18q21.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31883645[PMID]</SourceOfValidation>
+          <Gene id="29285">
+            <Name lang="en">neuron derived neurotrophic factor</Name>
+            <Symbol>NDNF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ23191</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="184313">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173376</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TB73</Reference>
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+                <GeneLocus>4q27</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643382[PMID]_19079066[PMID]</SourceOfValidation>
+          <Gene id="18061">
+            <Name lang="en">tachykinin receptor 3</Name>
+            <Symbol>TACR3</Symbol>
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+              <Synonym lang="en">NK3</Synonym>
+              <Synonym lang="en">NK3 receptor</Synonym>
+              <Synonym lang="en">NK3R</Synonym>
+              <Synonym lang="en">NKR</Synonym>
+              <Synonym lang="en">TAC3R</Synonym>
+              <Synonym lang="en">neurokinin B receptor</Synonym>
+              <Synonym lang="en">neurokinin beta receptor</Synonym>
+              <Synonym lang="en">neuromedin-K receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169836</Reference>
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+              <ExternalReference id="40840">
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+                <Source>IUPHAR</Source>
+                <Reference>362</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P29371</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28324054[PMID]</SourceOfValidation>
+          <Gene id="25646">
+            <Name lang="en">coiled-coil domain containing 141</Name>
+            <Symbol>CCDC141</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAMDI</Synonym>
+              <Synonym lang="en">FLJ39502</Synonym>
+              <Synonym lang="en">coiled-coil protein associated with myosin II and DISC1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163492</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6ZP82</Reference>
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+                <Source>OMIM</Source>
+                <Reference>616031</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CCDC141</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>822</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=822</ExpertLink>
+      <Name lang="en">Hereditary spherocytosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 4 member 1 (Diego blood group)</Name>
+            <Symbol>SLC4A1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD233</Synonym>
+              <Synonym lang="en">FR</Synonym>
+              <Synonym lang="en">Froese blood group</Synonym>
+              <Synonym lang="en">RTA1A</Synonym>
+              <Synonym lang="en">SW</Synonym>
+              <Synonym lang="en">Swann blood group</Synonym>
+              <Synonym lang="en">WR</Synonym>
+              <Synonym lang="en">Wright blood group</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>109270</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02730</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004939</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23664421[PMID]</SourceOfValidation>
+          <Gene id="15552">
+            <Name lang="en">spectrin alpha, erythrocytic 1</Name>
+            <Symbol>SPTA1</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">elliptocytosis 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163554</Reference>
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+                <Reference>11272</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>23664421[PMID]</SourceOfValidation>
+          <Gene id="15553">
+            <Name lang="en">spectrin beta, erythrocytic</Name>
+            <Symbol>SPTB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">spherocytosis, clinical type I</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070182</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P11277</Reference>
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+            <Name lang="en">ankyrin 1</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">MGC116737</Synonym>
+              <Synonym lang="en">PA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58436">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166947</Reference>
+              </ExternalReference>
+              <ExternalReference id="37024">
+                <Source>Genatlas</Source>
+                <Reference>EPB42</Reference>
+              </ExternalReference>
+              <ExternalReference id="37026">
+                <Source>HGNC</Source>
+                <Reference>3381</Reference>
+              </ExternalReference>
+              <ExternalReference id="37025">
+                <Source>OMIM</Source>
+                <Reference>177070</Reference>
+              </ExternalReference>
+              <ExternalReference id="37027">
+                <Source>SwissProt</Source>
+                <Reference>P16452</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26337">
+                <GeneLocus>15q15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3253">
+      <OrphaCode>910</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=910</ExpertLink>
+      <Name lang="en">Xeroderma pigmentosum</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15735">
+            <Name lang="en">XPA, DNA damage recognition and repair factor</Name>
+            <Symbol>XPA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">XP1</Synonym>
+              <Synonym lang="en">XPAC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136936</Reference>
+              </ExternalReference>
+              <ExternalReference id="27943">
+                <Source>Genatlas</Source>
+                <Reference>XPA</Reference>
+              </ExternalReference>
+              <ExternalReference id="35250">
+                <Source>HGNC</Source>
+                <Reference>12814</Reference>
+              </ExternalReference>
+              <ExternalReference id="27940">
+                <Source>OMIM</Source>
+                <Reference>611153</Reference>
+              </ExternalReference>
+              <ExternalReference id="60532">
+                <Source>Reactome</Source>
+                <Reference>P23025</Reference>
+              </ExternalReference>
+              <ExternalReference id="32707">
+                <Source>SwissProt</Source>
+                <Reference>P23025</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22475">
+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="16665">
+            <Name lang="en">ERCC excision repair 3, TFIIH core complex helicase subunit</Name>
+            <Symbol>ERCC3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BTF2</Synonym>
+              <Synonym lang="en">GTF2H</Synonym>
+              <Synonym lang="en">RAD25</Synonym>
+              <Synonym lang="en">Ssl2</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">XPB</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum group B complementing</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57881">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163161</Reference>
+              </ExternalReference>
+              <ExternalReference id="33982">
+                <Source>Genatlas</Source>
+                <Reference>ERCC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="33984">
+                <Source>HGNC</Source>
+                <Reference>3435</Reference>
+              </ExternalReference>
+              <ExternalReference id="33983">
+                <Source>OMIM</Source>
+                <Reference>133510</Reference>
+              </ExternalReference>
+              <ExternalReference id="57882">
+                <Source>Reactome</Source>
+                <Reference>P19447</Reference>
+              </ExternalReference>
+              <ExternalReference id="33985">
+                <Source>SwissProt</Source>
+                <Reference>P19447</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22745">
+                <GeneLocus>2q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15736">
+            <Name lang="en">XPC complex subunit, DNA damage recognition and repair factor</Name>
+            <Symbol>XPC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RAD4</Synonym>
+              <Synonym lang="en">XPCC</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum group C protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60533">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154767</Reference>
+              </ExternalReference>
+              <ExternalReference id="27945">
+                <Source>Genatlas</Source>
+                <Reference>XPC</Reference>
+              </ExternalReference>
+              <ExternalReference id="35251">
+                <Source>HGNC</Source>
+                <Reference>12816</Reference>
+              </ExternalReference>
+              <ExternalReference id="50651">
+                <Source>OMIM</Source>
+                <Reference>613208</Reference>
+              </ExternalReference>
+              <ExternalReference id="60534">
+                <Source>Reactome</Source>
+                <Reference>Q01831</Reference>
+              </ExternalReference>
+              <ExternalReference id="32708">
+                <Source>SwissProt</Source>
+                <Reference>Q01831</Reference>
+              </ExternalReference>
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+                <GeneLocus>3p25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15855">
+            <Name lang="en">damage specific DNA binding protein 2</Name>
+            <Symbol>DDB2</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DDB p48 subunit</Synonym>
+              <Synonym lang="en">DDBB</Synonym>
+              <Synonym lang="en">FLJ34321</Synonym>
+              <Synonym lang="en">UV-DDB2</Synonym>
+              <Synonym lang="en">UV-damaged DNA-binding protein 2</Synonym>
+              <Synonym lang="en">XPE</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum group E protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134574</Reference>
+              </ExternalReference>
+              <ExternalReference id="28508">
+                <Source>Genatlas</Source>
+                <Reference>DDB2</Reference>
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+              <ExternalReference id="28510">
+                <Source>HGNC</Source>
+                <Reference>2718</Reference>
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+              <ExternalReference id="28509">
+                <Source>OMIM</Source>
+                <Reference>600811</Reference>
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+              <ExternalReference id="60536">
+                <Source>Reactome</Source>
+                <Reference>Q92466</Reference>
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+              <ExternalReference id="32866">
+                <Source>SwissProt</Source>
+                <Reference>Q92466</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15990">
+            <Name lang="en">ERCC excision repair 4, endonuclease catalytic subunit</Name>
+            <Symbol>ERCC4</Symbol>
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+              <Synonym lang="en">FANCQ</Synonym>
+              <Synonym lang="en">RAD1</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum, complementation group F</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="29154">
+                <Source>HGNC</Source>
+                <Reference>3436</Reference>
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+              <ExternalReference id="29153">
+                <Source>OMIM</Source>
+                <Reference>133520</Reference>
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+              <ExternalReference id="60538">
+                <Source>Reactome</Source>
+                <Reference>Q92889</Reference>
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+              <ExternalReference id="33003">
+                <Source>SwissProt</Source>
+                <Reference>Q92889</Reference>
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+              <ExternalReference id="60537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175595</Reference>
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+              <ExternalReference id="29156">
+                <Source>Genatlas</Source>
+                <Reference>ERCC4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="16666">
+            <Name lang="en">ERCC excision repair 5, endonuclease</Name>
+            <Symbol>ERCC5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Cockayne syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="33987">
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+                <Source>HGNC</Source>
+                <Reference>3437</Reference>
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+              <ExternalReference id="33988">
+                <Source>OMIM</Source>
+                <Reference>133530</Reference>
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+              <ExternalReference id="58072">
+                <Source>Reactome</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="33990">
+                <Source>SwissProt</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="58071">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134899</Reference>
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+                <GeneLocus>13q33.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15989">
+            <Name lang="en">ERCC excision repair 2, TFIIH core complex helicase subunit</Name>
+            <Symbol>ERCC2</Symbol>
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+              <Synonym lang="en">EM9</Synonym>
+              <Synonym lang="en">MAG</Synonym>
+              <Synonym lang="en">MGC102762</Synonym>
+              <Synonym lang="en">MGC126218</Synonym>
+              <Synonym lang="en">MGC126219</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">TFIIH basal transcription factor complex helicase XPB subunit</Synonym>
+              <Synonym lang="en">excision repair cross-complementing rodent repair deficiency, complementation group 2 protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57879">
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+                <Reference>ENSG00000104884</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERCC2</Reference>
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+              <ExternalReference id="29137">
+                <Source>HGNC</Source>
+                <Reference>3434</Reference>
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+              <ExternalReference id="29136">
+                <Source>OMIM</Source>
+                <Reference>126340</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P18074</Reference>
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+              <ExternalReference id="33001">
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+                <Reference>P18074</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=229</ExpertLink>
+      <Name lang="en">Familial aortic dissection</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16496">
+            <Name lang="en">myosin heavy chain 11</Name>
+            <Symbol>MYH11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SMHC</Synonym>
+              <Synonym lang="en">SMMHC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000133392</Reference>
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+                <Reference>7569</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160745</Reference>
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+              <ExternalReference id="58474">
+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+      <OrphaCode>279</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=279</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Age-related macular degeneration</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15050">
+            <Name lang="en">ATP binding cassette subfamily A member 4</Name>
+            <Symbol>ABCA4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARMD2</Synonym>
+              <Synonym lang="en">CORD3</Synonym>
+              <Synonym lang="en">FFM</Synonym>
+              <Synonym lang="en">Stargardt disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>759</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198691</Reference>
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+                <Source>HGNC</Source>
+                <Reference>34</Reference>
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+                <Reference>601691</Reference>
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+                <Source>Reactome</Source>
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+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
+            <Symbol>CFH</Symbol>
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+              <Synonym lang="en">ARMS1</Synonym>
+              <Synonym lang="en">FHL1</Synonym>
+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+                <Reference>4883</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134370</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>23685748[PMID]</SourceOfValidation>
+          <Gene id="15438">
+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C3b-INA</Synonym>
+              <Synonym lang="en">C3b-inactivator</Synonym>
+              <Synonym lang="en">FI</Synonym>
+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26519">
+                <Source>OMIM</Source>
+                <Reference>217030</Reference>
+              </ExternalReference>
+              <ExternalReference id="59694">
+                <Source>Reactome</Source>
+                <Reference>P05156</Reference>
+              </ExternalReference>
+              <ExternalReference id="32407">
+                <Source>SwissProt</Source>
+                <Reference>P05156</Reference>
+              </ExternalReference>
+              <ExternalReference id="59693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
+              </ExternalReference>
+              <ExternalReference id="26518">
+                <Source>Genatlas</Source>
+                <Reference>CFI</Reference>
+              </ExternalReference>
+              <ExternalReference id="26520">
+                <Source>HGNC</Source>
+                <Reference>5394</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7407">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24899048[PMID]</SourceOfValidation>
+          <Gene id="16033">
+            <Name lang="en">fibrillin 2</Name>
+            <Symbol>FBN2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DA9</Synonym>
+              <Synonym lang="en">fibrillin 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138829</Reference>
+              </ExternalReference>
+              <ExternalReference id="29371">
+                <Source>Genatlas</Source>
+                <Reference>FBN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29369">
+                <Source>HGNC</Source>
+                <Reference>3604</Reference>
+              </ExternalReference>
+              <ExternalReference id="40658">
+                <Source>OMIM</Source>
+                <Reference>612570</Reference>
+              </ExternalReference>
+              <ExternalReference id="82915">
+                <Source>Reactome</Source>
+                <Reference>P35556</Reference>
+              </ExternalReference>
+              <ExternalReference id="33047">
+                <Source>SwissProt</Source>
+                <Reference>P35556</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18591">
+                <GeneLocus>5q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16206">
+            <Name lang="en">hemicentin 1</Name>
+            <Symbol>HMCN1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FBLN6</Synonym>
+              <Synonym lang="en">FIBL-6</Synonym>
+              <Synonym lang="en">FIBL6</Synonym>
+              <Synonym lang="en">fibulin 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143341</Reference>
+              </ExternalReference>
+              <ExternalReference id="36762">
+                <Source>Genatlas</Source>
+                <Reference>HMCN1</Reference>
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+              <ExternalReference id="30221">
+                <Source>HGNC</Source>
+                <Reference>19194</Reference>
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+              <ExternalReference id="30220">
+                <Source>OMIM</Source>
+                <Reference>608548</Reference>
+              </ExternalReference>
+              <ExternalReference id="33230">
+                <Source>SwissProt</Source>
+                <Reference>Q96RW7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8841">
+                <GeneLocus>1q25.3-q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16824">
+            <Name lang="en">HtrA serine peptidase 1</Name>
+            <Symbol>HTRA1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ARMD7</Synonym>
+              <Synonym lang="en">HtrA</Synonym>
+              <Synonym lang="en">IGFBP5-protease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166033</Reference>
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+              <ExternalReference id="35126">
+                <Source>Genatlas</Source>
+                <Reference>HTRA1</Reference>
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+              <ExternalReference id="35125">
+                <Source>HGNC</Source>
+                <Reference>9476</Reference>
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+              <ExternalReference id="35128">
+                <Source>OMIM</Source>
+                <Reference>602194</Reference>
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+              <ExternalReference id="35127">
+                <Source>SwissProt</Source>
+                <Reference>Q92743</Reference>
+              </ExternalReference>
+              <ExternalReference id="203219">
+                <Source>IUPHAR</Source>
+                <Reference>3194</Reference>
+              </ExternalReference>
+              <ExternalReference id="100312">
+                <Source>Reactome</Source>
+                <Reference>Q92743</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="84505">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17195">
+            <Name lang="en">complement factor B</Name>
+            <Symbol>CFB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">H2-Bf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58478">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000243649</Reference>
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+              <ExternalReference id="36247">
+                <Source>Genatlas</Source>
+                <Reference>CFB</Reference>
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+              <ExternalReference id="36246">
+                <Source>HGNC</Source>
+                <Reference>1037</Reference>
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+              <ExternalReference id="83062">
+                <Source>IUPHAR</Source>
+                <Reference>2339</Reference>
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+              <ExternalReference id="36249">
+                <Source>OMIM</Source>
+                <Reference>138470</Reference>
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+              <ExternalReference id="58479">
+                <Source>Reactome</Source>
+                <Reference>P00751</Reference>
+              </ExternalReference>
+              <ExternalReference id="36248">
+                <Source>SwissProt</Source>
+                <Reference>P00751</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13651">
+                <GeneLocus>6p21.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17446">
+            <Name lang="en">complement C3</Name>
+            <Symbol>C3</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ARMD9</Synonym>
+              <Synonym lang="en">C3a</Synonym>
+              <Synonym lang="en">C3a anaphylatoxin</Synonym>
+              <Synonym lang="en">C3b</Synonym>
+              <Synonym lang="en">CPAMD1</Synonym>
+              <Synonym lang="en">complement component C3a</Synonym>
+              <Synonym lang="en">complement component C3b</Synonym>
+              <Synonym lang="en">prepro-C3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125730</Reference>
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+              <ExternalReference id="38111">
+                <Source>Genatlas</Source>
+                <Reference>C3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1318</Reference>
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+              <ExternalReference id="38112">
+                <Source>OMIM</Source>
+                <Reference>120700</Reference>
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+              <ExternalReference id="58477">
+                <Source>Reactome</Source>
+                <Reference>P01024</Reference>
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+              <ExternalReference id="38114">
+                <Source>SwissProt</Source>
+                <Reference>P01024</Reference>
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+                <GeneLocus>19p13.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24036952[PMID]</SourceOfValidation>
+          <Gene id="17456">
+            <Name lang="en">complement C9</Name>
+            <Symbol>C9</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>1358</Reference>
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+              <ExternalReference id="38164">
+                <Source>OMIM</Source>
+                <Reference>120940</Reference>
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+              <ExternalReference id="60202">
+                <Source>Reactome</Source>
+                <Reference>P02748</Reference>
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+              <ExternalReference id="38163">
+                <Source>SwissProt</Source>
+                <Reference>P02748</Reference>
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+              <ExternalReference id="60201">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113600</Reference>
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+              <ExternalReference id="38161">
+                <Source>Genatlas</Source>
+                <Reference>C9</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19257">
+            <Name lang="en">age-related maculopathy susceptibility 2</Name>
+            <Symbol>ARMS2</Symbol>
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+              <Synonym lang="en">ARMD8</Synonym>
+              <Synonym lang="en">LOC387715</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58475">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254636</Reference>
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+              <ExternalReference id="46998">
+                <Source>Genatlas</Source>
+                <Reference>ARMS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>32685</Reference>
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+              <ExternalReference id="47000">
+                <Source>OMIM</Source>
+                <Reference>611313</Reference>
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+              <ExternalReference id="46999">
+                <Source>SwissProt</Source>
+                <Reference>P0C7Q2</Reference>
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+                <GeneLocus>10q26.13</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19832">
+            <Name lang="en">C-X3-C motif chemokine receptor 1</Name>
+            <Symbol>CX3CR1</Symbol>
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+              <Synonym lang="en">CCRL1</Synonym>
+              <Synonym lang="en">CMKDR1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58486">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168329</Reference>
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+              <ExternalReference id="50772">
+                <Source>Genatlas</Source>
+                <Reference>CX3CR1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>601470</Reference>
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+              <ExternalReference id="58487">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P49238</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15269314[PMID]</SourceOfValidation>
+          <Gene id="16031">
+            <Name lang="en">fibulin 5</Name>
+            <Symbol>FBLN5</Symbol>
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+              <Synonym lang="en">ARMD3</Synonym>
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+              <Synonym lang="en">EVEC</Synonym>
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+              <Synonym lang="en">developmental arteries and neural crest EGF-like</Synonym>
+              <Synonym lang="en">embryonic vascular EGF-like repeat-containing protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140092</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3602</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+      <Name lang="en">X-linked non-syndromic intellectual disability</Name>
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+            <Name lang="en">STING1 ER exit protein 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000018610</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H5V9</Reference>
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+                <Source>OMIM</Source>
+                <Reference>301012</Reference>
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+                <Reference>CXorf56</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H5V9</Reference>
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+          <Gene id="15231">
+            <Name lang="en">ribosomal protein S6 kinase A3</Name>
+            <Symbol>RPS6KA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HU-3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>10432</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1528</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300075</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51812</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51812</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177189</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15850492[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="32966">
+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
+              </ExternalReference>
+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
+              </ExternalReference>
+              <ExternalReference id="28975">
+                <Source>Genatlas</Source>
+                <Reference>ARX</Reference>
+              </ExternalReference>
+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
+              </ExternalReference>
+              <ExternalReference id="28972">
+                <Source>OMIM</Source>
+                <Reference>300382</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8363">
+                <GeneLocus>Xp21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23900271[PMID]</SourceOfValidation>
+          <Gene id="15876">
+            <Name lang="en">dystrophin</Name>
+            <Symbol>DMD</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">DXS142</Synonym>
+              <Synonym lang="en">DXS164</Synonym>
+              <Synonym lang="en">DXS206</Synonym>
+              <Synonym lang="en">DXS230</Synonym>
+              <Synonym lang="en">DXS239</Synonym>
+              <Synonym lang="en">DXS268</Synonym>
+              <Synonym lang="en">DXS269</Synonym>
+              <Synonym lang="en">DXS270</Synonym>
+              <Synonym lang="en">DXS272</Synonym>
+              <Synonym lang="en">muscular dystrophy, Duchenne and Becker types</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198947</Reference>
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+              <ExternalReference id="28608">
+                <Source>Genatlas</Source>
+                <Reference>DMD</Reference>
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+              <ExternalReference id="28606">
+                <Source>HGNC</Source>
+                <Reference>2928</Reference>
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+              <ExternalReference id="28605">
+                <Source>OMIM</Source>
+                <Reference>300377</Reference>
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+              <ExternalReference id="57455">
+                <Source>Reactome</Source>
+                <Reference>P11532</Reference>
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+              <ExternalReference id="32887">
+                <Source>SwissProt</Source>
+                <Reference>P11532</Reference>
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+            <LocusList count="1">
+              <Locus id="24659">
+                <GeneLocus>Xp21.2-p21.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18081026[PMID]</SourceOfValidation>
+          <Gene id="16081">
+            <Name lang="en">FtsJ RNA 2'-O-methyltransferase 1</Name>
+            <Symbol>FTSJ1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CDLIV</Synonym>
+              <Synonym lang="en">JM23</Synonym>
+              <Synonym lang="en">SPB1</Synonym>
+              <Synonym lang="en">TRM7</Synonym>
+              <Synonym lang="en">TRMT7</Synonym>
+              <Synonym lang="en">tRNA methyltransferase 7 homolog (S. cerevisiae)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126342">
+                <Source>Reactome</Source>
+                <Reference>Q9UET6</Reference>
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+              <ExternalReference id="58450">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068438</Reference>
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+              <ExternalReference id="29612">
+                <Source>Genatlas</Source>
+                <Reference>FTSJ1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13254</Reference>
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+              <ExternalReference id="29613">
+                <Source>OMIM</Source>
+                <Reference>300499</Reference>
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+              <ExternalReference id="33096">
+                <Source>SwissProt</Source>
+                <Reference>Q9UET6</Reference>
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+            <LocusList count="1">
+              <Locus id="26669">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22002931[PMID]</SourceOfValidation>
+          <Gene id="16115">
+            <Name lang="en">GDP dissociation inhibitor 1</Name>
+            <Symbol>GDI1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FLJ41411</Synonym>
+              <Synonym lang="en">OPHN2</Synonym>
+              <Synonym lang="en">RABGDIA</Synonym>
+              <Synonym lang="en">XAP-4</Synonym>
+              <Synonym lang="en">mental retardation, X-linked 41</Synonym>
+              <Synonym lang="en">mental retardation, X-linked 48</Synonym>
+              <Synonym lang="en">rab GDP-dissociation inhibitor, alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58451">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203879</Reference>
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+              <ExternalReference id="29782">
+                <Source>Genatlas</Source>
+                <Reference>GDI1</Reference>
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+              <ExternalReference id="29780">
+                <Source>HGNC</Source>
+                <Reference>4226</Reference>
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+              <ExternalReference id="29779">
+                <Source>OMIM</Source>
+                <Reference>300104</Reference>
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+              <ExternalReference id="58452">
+                <Source>Reactome</Source>
+                <Reference>P31150</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P31150</Reference>
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+              <Locus id="8671">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16796">
+            <Name lang="en">mediator complex subunit 12</Name>
+            <Symbol>MED12</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ARC240</Synonym>
+              <Synonym lang="en">CAGH45</Synonym>
+              <Synonym lang="en">HOPA</Synonym>
+              <Synonym lang="en">KIAA0192</Synonym>
+              <Synonym lang="en">Kohtalo homolog</Synonym>
+              <Synonym lang="en">Kto</Synonym>
+              <Synonym lang="en">OKS</Synonym>
+              <Synonym lang="en">OPA1</Synonym>
+              <Synonym lang="en">TRAP230</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57888">
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+                <Reference>ENSG00000184634</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MED12</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11957</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300188</Reference>
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+              <ExternalReference id="57889">
+                <Source>Reactome</Source>
+                <Reference>Q93074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q93074</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq13.1</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17704778[PMID]_19238151[PMID]</SourceOfValidation>
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+            <Name lang="en">UPF3B regulator of nonsense mediated mRNA decay</Name>
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+              <Synonym lang="en">HUPF3B</Synonym>
+              <Synonym lang="en">MRX82</Synonym>
+              <Synonym lang="en">RENT3B</Synonym>
+              <Synonym lang="en">UPF3X</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57890">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125351</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9BZI7</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14598163[PMID]</SourceOfValidation>
+          <Gene id="17417">
+            <Name lang="en">angiotensin II receptor type 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180772</Reference>
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+              <ExternalReference id="37651">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17269">
+            <Name lang="en">zinc finger protein 41</Name>
+            <Symbol>ZNF41</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147124</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">discs large MAGUK scaffold protein 3</Name>
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+              <Synonym lang="en">neuroendocrine-dlg</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 82</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58449">
+                <Source>Reactome</Source>
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+            <Name lang="en">interleukin 1 receptor accessory protein like 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10655063[PMID]_12070254[PMID]</SourceOfValidation>
+          <Gene id="17736">
+            <Name lang="en">tetraspanin 7</Name>
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+              <Synonym lang="en">DXS1692E</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100320">
+                <Source>Reactome</Source>
+                <Reference>P41732</Reference>
+              </ExternalReference>
+              <ExternalReference id="58463">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156298</Reference>
+              </ExternalReference>
+              <ExternalReference id="39349">
+                <Source>Genatlas</Source>
+                <Reference>TSPAN7</Reference>
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+              <ExternalReference id="39350">
+                <Source>HGNC</Source>
+                <Reference>11854</Reference>
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+              <ExternalReference id="39351">
+                <Source>OMIM</Source>
+                <Reference>300096</Reference>
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+              <ExternalReference id="39352">
+                <Source>SwissProt</Source>
+                <Reference>P41732</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="19215">
+                <GeneLocus>Xp11.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11017088[PMID]</SourceOfValidation>
+          <Gene id="17746">
+            <Name lang="en">Rac/Cdc42 guanine nucleotide exchange factor 6</Name>
+            <Symbol>ARHGEF6</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">Cool-2</Synonym>
+              <Synonym lang="en">Cool2</Synonym>
+              <Synonym lang="en">KIAA0006</Synonym>
+              <Synonym lang="en">PAK-interacting exchange factor, alpha</Synonym>
+              <Synonym lang="en">Rac/Cdc42 guanine exchange factor (GEF) 6</Synonym>
+              <Synonym lang="en">aPix</Synonym>
+              <Synonym lang="en">alpha-PIX</Synonym>
+              <Synonym lang="en">alphaPIX</Synonym>
+              <Synonym lang="en">rho guanine nucleotide exchange factor 6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129675</Reference>
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+              <ExternalReference id="39484">
+                <Source>Genatlas</Source>
+                <Reference>ARHGEF6</Reference>
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+              <ExternalReference id="39485">
+                <Source>HGNC</Source>
+                <Reference>685</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300267</Reference>
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+              <ExternalReference id="58461">
+                <Source>Reactome</Source>
+                <Reference>Q15052</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15052</Reference>
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+                <GeneLocus>Xq26.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15121780[PMID]</SourceOfValidation>
+          <Gene id="17747">
+            <Name lang="en">zinc finger protein 81</Name>
+            <Symbol>ZNF81</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HFZ20</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197779</Reference>
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+              <ExternalReference id="39489">
+                <Source>Genatlas</Source>
+                <Reference>ZNF81</Reference>
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+              <ExternalReference id="39490">
+                <Source>HGNC</Source>
+                <Reference>13156</Reference>
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+              <ExternalReference id="39491">
+                <Source>OMIM</Source>
+                <Reference>314998</Reference>
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+              <ExternalReference id="39492">
+                <Source>SwissProt</Source>
+                <Reference>P51508</Reference>
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+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19377476[PMID]</SourceOfValidation>
+          <Gene id="19024">
+            <Name lang="en">synaptophysin</Name>
+            <Symbol>SYP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MRX96</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142975">
+                <Source>Reactome</Source>
+                <Reference>P08247</Reference>
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+              <ExternalReference id="58462">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102003</Reference>
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+              <ExternalReference id="44973">
+                <Source>Genatlas</Source>
+                <Reference>SYP</Reference>
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+              <ExternalReference id="44974">
+                <Source>HGNC</Source>
+                <Reference>11506</Reference>
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+              <ExternalReference id="69474">
+                <Source>OMIM</Source>
+                <Reference>313475</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P08247</Reference>
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+                <GeneLocus>Xp11.23</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19377476[PMID]</SourceOfValidation>
+          <Gene id="20778">
+            <Name lang="en">zinc finger protein 711</Name>
+            <Symbol>ZNF711</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMPX1</Synonym>
+              <Synonym lang="en">MRX97</Synonym>
+              <Synonym lang="en">ZNF4</Synonym>
+              <Synonym lang="en">ZNF5</Synonym>
+              <Synonym lang="en">Zfp711</Synonym>
+              <Synonym lang="en">dJ75N13.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58467">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147180</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ZNF711</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13128</Reference>
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+                <Source>OMIM</Source>
+                <Reference>314990</Reference>
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+              <ExternalReference id="83236">
+                <Source>Reactome</Source>
+                <Reference>Q9Y462</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y462</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20159109[PMID]</SourceOfValidation>
+          <Gene id="18988">
+            <Name lang="en">RAB39B, member RAS oncogene family</Name>
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+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126390">
+                <Source>Reactome</Source>
+                <Reference>Q96DA2</Reference>
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+              <ExternalReference id="44537">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Reference>300774</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96DA2</Reference>
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+              <ExternalReference id="58459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155961</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23000143[PMID]</SourceOfValidation>
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+            <Name lang="en">host cell factor C1</Name>
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+              <Synonym lang="en">VP16-accessory protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 89</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase</Synonym>
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+              <Synonym lang="en">Tudor domain containing 13</Synonym>
+              <Synonym lang="en">YGL047W</Synonym>
+              <Synonym lang="en">tudor domain containing 13</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">midline 2</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>6990</Reference>
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+                <Reference>300005</Reference>
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+              <ExternalReference id="33452">
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+              <ExternalReference id="56763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169057</Reference>
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+                <Reference>MECP2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51608</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20473311[PMID]</SourceOfValidation>
+          <Gene id="19225">
+            <Name lang="en">IQ motif and Sec7 domain ArfGEF 2</Name>
+            <Symbol>IQSEC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BRAG1</Synonym>
+              <Synonym lang="en">IQ-ArfGEF</Synonym>
+              <Synonym lang="en">KIAA0522</Synonym>
+              <Synonym lang="en">brefeldin A resistant Arf-guanine nucleotide exchange factor 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Reference>ENSG00000124313</Reference>
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+              <ExternalReference id="46430">
+                <Source>Genatlas</Source>
+                <Reference>IQSEC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29059</Reference>
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+              <ExternalReference id="46433">
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+                <Reference>300522</Reference>
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+              <ExternalReference id="46432">
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+                <Reference>Q5JU85</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30335141[PMID]</SourceOfValidation>
+          <Gene id="25769">
+            <Name lang="en">solute carrier family 9 member A7</Name>
+            <Symbol>SLC9A7</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065923</Reference>
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+              <ExternalReference id="147203">
+                <Source>SwissProt</Source>
+                <Reference>Q96T83</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300368</Reference>
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+              <ExternalReference id="147205">
+                <Source>Genatlas</Source>
+                <Reference>SLC9A7</Reference>
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+              <ExternalReference id="147206">
+                <Source>Reactome</Source>
+                <Reference>Q96T83</Reference>
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+              <ExternalReference id="190712">
+                <Source>IUPHAR</Source>
+                <Reference>954</Reference>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]</SourceOfValidation>
+          <Gene id="23631">
+            <Name lang="en">connector enhancer of kinase suppressor of Ras 2</Name>
+            <Symbol>CNKSR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CNK2</Synonym>
+              <Synonym lang="en">KIAA0902</Synonym>
+              <Synonym lang="en">KSR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98735">
+                <Source>OMIM</Source>
+                <Reference>300724</Reference>
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+              <ExternalReference id="98738">
+                <Source>Reactome</Source>
+                <Reference>Q8WXI2</Reference>
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+              <ExternalReference id="98737">
+                <Source>SwissProt</Source>
+                <Reference>Q8WXI2</Reference>
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+              <ExternalReference id="98739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149970</Reference>
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+              <ExternalReference id="98736">
+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]</SourceOfValidation>
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+            <Symbol>FRMPD4</Symbol>
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+              <Synonym lang="en">KIAA0316</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>300838</Reference>
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+                <Reference>FRMPD4</Reference>
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+              <ExternalReference id="126703">
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+                <Reference>Q14CM0</Reference>
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+              <ExternalReference id="126704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169933</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]</SourceOfValidation>
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+            <Name lang="en">ubiquitin specific peptidase 27 X-linked</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>A6NNY8</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000273820</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]</SourceOfValidation>
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+            <Name lang="en">chloride voltage-gated channel 4</Name>
+            <Symbol>CLCN4</Symbol>
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+              <Synonym lang="en">ClC-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073464</Reference>
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+                <Reference>703</Reference>
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+      <Name lang="en">Hemolytic anemia due to red cell pyruvate kinase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143627</Reference>
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+            <Name lang="en">caveolin 3</Name>
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+              <Synonym lang="en">LQT9</Synonym>
+              <Synonym lang="en">M-caveolin</Synonym>
+              <Synonym lang="en">VIP-21</Synonym>
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+            <Name lang="en">ubiquitin specific peptidase 45</Name>
+            <Symbol>USP45</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC14793</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000123552</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>35240325[PMID]</SourceOfValidation>
+          <Gene id="28876">
+            <Name lang="en">tubulin beta 4B class IVb</Name>
+            <Symbol>TUBB4B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Beta2</Synonym>
+              <Synonym lang="en">class IVb beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">spermatogenesis associated 7</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17962469[PMID]_25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="15675">
+            <Name lang="en">TUB like protein 1</Name>
+            <Symbol>TULP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LCA15</Synonym>
+              <Synonym lang="en">TUBL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143956">
+                <Source>Reactome</Source>
+                <Reference>O00294</Reference>
+              </ExternalReference>
+              <ExternalReference id="57585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112041</Reference>
+              </ExternalReference>
+              <ExternalReference id="27665">
+                <Source>Genatlas</Source>
+                <Reference>TULP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27663">
+                <Source>HGNC</Source>
+                <Reference>12423</Reference>
+              </ExternalReference>
+              <ExternalReference id="27662">
+                <Source>OMIM</Source>
+                <Reference>602280</Reference>
+              </ExternalReference>
+              <ExternalReference id="32647">
+                <Source>SwissProt</Source>
+                <Reference>O00294</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39381">
+                <GeneLocus>6p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="15798">
+            <Name lang="en">crumbs cell polarity complex component 1</Name>
+            <Symbol>CRB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LCA8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134376</Reference>
+              </ExternalReference>
+              <ExternalReference id="28240">
+                <Source>Genatlas</Source>
+                <Reference>CRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28242">
+                <Source>HGNC</Source>
+                <Reference>2343</Reference>
+              </ExternalReference>
+              <ExternalReference id="28241">
+                <Source>OMIM</Source>
+                <Reference>604210</Reference>
+              </ExternalReference>
+              <ExternalReference id="32770">
+                <Source>SwissProt</Source>
+                <Reference>P82279</Reference>
+              </ExternalReference>
+              <ExternalReference id="143962">
+                <Source>Reactome</Source>
+                <Reference>P82279</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39393">
+                <GeneLocus>1q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9931337[PMID]_25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="15803">
+            <Name lang="en">cone-rod homeobox</Name>
+            <Symbol>CRX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CRD</Synonym>
+              <Synonym lang="en">LCA7</Synonym>
+              <Synonym lang="en">OTX3</Synonym>
+              <Synonym lang="en">orthodenticle homeobox 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143923">
+                <Source>Reactome</Source>
+                <Reference>O43186</Reference>
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+              <ExternalReference id="57528">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105392</Reference>
+              </ExternalReference>
+              <ExternalReference id="28264">
+                <Source>Genatlas</Source>
+                <Reference>CRX</Reference>
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+              <ExternalReference id="28266">
+                <Source>HGNC</Source>
+                <Reference>2383</Reference>
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+              <ExternalReference id="28265">
+                <Source>OMIM</Source>
+                <Reference>602225</Reference>
+              </ExternalReference>
+              <ExternalReference id="32814">
+                <Source>SwissProt</Source>
+                <Reference>O43186</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39311">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="16178">
+            <Name lang="en">guanylate cyclase 2D, retinal</Name>
+            <Symbol>GUCY2D</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CYGD</Synonym>
+              <Synonym lang="en">LCA1</Synonym>
+              <Synonym lang="en">RETGC-1</Synonym>
+              <Synonym lang="en">ROS-GC1</Synonym>
+              <Synonym lang="en">retGC</Synonym>
+              <Synonym lang="en">retinal guanylate cyclase 1</Synonym>
+              <Synonym lang="en">rod outer segment membrane guanylate cyclase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58118">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132518</Reference>
+              </ExternalReference>
+              <ExternalReference id="30082">
+                <Source>Genatlas</Source>
+                <Reference>GUCY2D</Reference>
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+              <ExternalReference id="30084">
+                <Source>HGNC</Source>
+                <Reference>4689</Reference>
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+              <ExternalReference id="82946">
+                <Source>IUPHAR</Source>
+                <Reference>2031</Reference>
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+              <ExternalReference id="30083">
+                <Source>OMIM</Source>
+                <Reference>600179</Reference>
+              </ExternalReference>
+              <ExternalReference id="82945">
+                <Source>Reactome</Source>
+                <Reference>Q02846</Reference>
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+              <ExternalReference id="33197">
+                <Source>SwissProt</Source>
+                <Reference>Q02846</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8789">
+                <GeneLocus>17p13.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16384941[PMID]_25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="16259">
+            <Name lang="en">inosine monophosphate dehydrogenase 1</Name>
+            <Symbol>IMPDH1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LCA11</Synonym>
+              <Synonym lang="en">sWSS2608</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57538">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106348</Reference>
+              </ExternalReference>
+              <ExternalReference id="30468">
+                <Source>Genatlas</Source>
+                <Reference>IMPDH1</Reference>
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+              <ExternalReference id="30466">
+                <Source>HGNC</Source>
+                <Reference>6052</Reference>
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+              <ExternalReference id="82959">
+                <Source>IUPHAR</Source>
+                <Reference>2624</Reference>
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+              <ExternalReference id="30465">
+                <Source>OMIM</Source>
+                <Reference>146690</Reference>
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+              <ExternalReference id="57539">
+                <Source>Reactome</Source>
+                <Reference>P20839</Reference>
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+              <ExternalReference id="33324">
+                <Source>SwissProt</Source>
+                <Reference>P20839</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q32.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20881296[PMID]_21901789[PMID]</SourceOfValidation>
+          <Gene id="16265">
+            <Name lang="en">IQ motif containing B1</Name>
+            <Symbol>IQCB1</Symbol>
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+              <Synonym lang="en">KIAA0036</Synonym>
+              <Synonym lang="en">NPHP5</Synonym>
+              <Synonym lang="en">SLSN5</Synonym>
+              <Synonym lang="en">nephrocystin-5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58331">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173226</Reference>
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+              <ExternalReference id="30495">
+                <Source>Genatlas</Source>
+                <Reference>IQCB1</Reference>
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+              <ExternalReference id="30493">
+                <Source>HGNC</Source>
+                <Reference>28949</Reference>
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+              <ExternalReference id="30492">
+                <Source>OMIM</Source>
+                <Reference>609237</Reference>
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+              <ExternalReference id="97229">
+                <Source>Reactome</Source>
+                <Reference>Q15051</Reference>
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+              <ExternalReference id="33330">
+                <Source>SwissProt</Source>
+                <Reference>Q15051</Reference>
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+                <GeneLocus>3q13.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17546029[PMID]_25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="16982">
+            <Name lang="en">lebercilin LCA5</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143230">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q86VQ0</Reference>
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+              <ExternalReference id="58396">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135338</Reference>
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+              <ExternalReference id="35893">
+                <Source>Genatlas</Source>
+                <Reference>LCA5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>31923</Reference>
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+              <ExternalReference id="35895">
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+                <Reference>611408</Reference>
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+              <Locus id="38175">
+                <GeneLocus>6q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21763485[PMID]_25685757[PMID]_20301475[PMID]</SourceOfValidation>
+          <Gene id="17388">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 13</Name>
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+              <Synonym lang="en">Kir7.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115474</Reference>
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+              <ExternalReference id="37189">
+                <Source>Genatlas</Source>
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+                <Reference>6259</Reference>
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+              <ExternalReference id="83087">
+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O60928</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">lecithin retinol acyltransferase</Name>
+            <Symbol>LRAT</Symbol>
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+              <Synonym lang="en">LCA14</Synonym>
+              <Synonym lang="en">phosphatidylcholine--retinol O-acyltransferase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000121207</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">phosphate cytidylyltransferase 1A, choline</Name>
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+              <Synonym lang="en">'phosphate cytidylyltransferase 1, choline, alpha isoform'</Synonym>
+              <Synonym lang="en">CCTalpha</Synonym>
+              <Synonym lang="en">CT</Synonym>
+              <Synonym lang="en">CTP:phosphocholine cytidylyltransferase-alpha</Synonym>
+              <Synonym lang="en">CTPCT</Synonym>
+              <Synonym lang="en">choline-phosphate cytidylyltransferase alpha</Synonym>
+              <Synonym lang="en">phosphorylcholine transferase alpha</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <OrphaCode>321</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=321</ExpertLink>
+      <Name lang="en">Multiple osteochondromas</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301413[PMID]</SourceOfValidation>
+          <Gene id="16004">
+            <Name lang="en">exostosin glycosyltransferase 1</Name>
+            <Symbol>EXT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase</Synonym>
+              <Synonym lang="en">N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase</Synonym>
+              <Synonym lang="en">ttv</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q16394</Reference>
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+                <Reference>Q16394</Reference>
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+              <ExternalReference id="57361">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182197</Reference>
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+              <ExternalReference id="29227">
+                <Source>Genatlas</Source>
+                <Reference>EXT1</Reference>
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+                <GeneLocus>8q24.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301413[PMID]</SourceOfValidation>
+          <Gene id="16005">
+            <Name lang="en">exostosin glycosyltransferase 2</Name>
+            <Symbol>EXT2</Symbol>
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+              <Synonym lang="en">N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase</Synonym>
+              <Synonym lang="en">SOTV</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58420">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151348</Reference>
+              </ExternalReference>
+              <ExternalReference id="29229">
+                <Source>Genatlas</Source>
+                <Reference>EXT2</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>3513</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608210</Reference>
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+              <ExternalReference id="82905">
+                <Source>Reactome</Source>
+                <Reference>Q93063</Reference>
+              </ExternalReference>
+              <ExternalReference id="33019">
+                <Source>SwissProt</Source>
+                <Reference>Q93063</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21967">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3245">
+      <OrphaCode>144</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=144</ExpertLink>
+      <Name lang="en">Lynch syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="11">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25318681[PMID]_20301390[PMID]</SourceOfValidation>
+          <Gene id="16467">
+            <Name lang="en">mutS homolog 6</Name>
+            <Symbol>MSH6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58412">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116062</Reference>
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+              <ExternalReference id="31438">
+                <Source>Genatlas</Source>
+                <Reference>MSH6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7329</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600678</Reference>
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+              <ExternalReference id="91590">
+                <Source>Reactome</Source>
+                <Reference>P52701</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P52701</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19731079[PMID]</SourceOfValidation>
+          <Gene id="16312">
+            <Name lang="en">KRAS proto-oncogene, GTPase</Name>
+            <Symbol>KRAS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K-Ras4B</Synonym>
+              <Synonym lang="en">KRAS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+              <ExternalReference id="56977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133703</Reference>
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+              <ExternalReference id="30720">
+                <Source>Genatlas</Source>
+                <Reference>KRAS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6407</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190070</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01116</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15115">
+            <Name lang="en">PMS1 homolog 1, mismatch repair system component</Name>
+            <Symbol>PMS1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064933</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PMS1</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+            <Name lang="en">transforming growth factor beta receptor 2</Name>
+            <Symbol>TGFBR2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TBR-ii</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163513</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119684</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119888</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3244">
+      <OrphaCode>110</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=110</ExpertLink>
+      <Name lang="en">Bardet-Biedl syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="25">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="15352">
+            <Name lang="en">Bardet-Biedl syndrome 1</Name>
+            <Symbol>BBS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ23590</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58401">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174483</Reference>
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+              <ExternalReference id="26109">
+                <Source>Genatlas</Source>
+                <Reference>BBS1</Reference>
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+              <ExternalReference id="26107">
+                <Source>HGNC</Source>
+                <Reference>966</Reference>
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+                <Source>OMIM</Source>
+                <Reference>209901</Reference>
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+              <ExternalReference id="97172">
+                <Source>Reactome</Source>
+                <Reference>Q8NFJ9</Reference>
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+              <ExternalReference id="33909">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFJ9</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23219996[PMID]_23403234[PMID]_20301537[PMID]</SourceOfValidation>
+          <Gene id="15353">
+            <Name lang="en">Bardet-Biedl syndrome 10</Name>
+            <Symbol>BBS10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ23560</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58402">
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+                <Reference>ENSG00000179941</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>26291</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610148</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TAM1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="15354">
+            <Name lang="en">Bardet-Biedl syndrome 2</Name>
+            <Symbol>BBS2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000125124</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BBS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>967</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606151</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BXC9</Reference>
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+                <Reference>Q9BXC9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="15355">
+            <Name lang="en">Bardet-Biedl syndrome 4</Name>
+            <Symbol>BBS4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140463</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BBS4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>969</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600374</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="15356">
+            <Name lang="en">Bardet-Biedl syndrome 5</Name>
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+              <Synonym lang="en">DKFZp762I194</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97176">
+                <Source>Reactome</Source>
+                <Reference>Q8N3I7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N3I7</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163093</Reference>
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+              <ExternalReference id="26129">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>18758</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8IWZ6</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
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+            <Name lang="en">Bardet-Biedl syndrome 9</Name>
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+              <Synonym lang="en">PTHB1</Synonym>
+              <Synonym lang="en">parathyroid hormone responsive B1 gene</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122507</Reference>
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+                <Reference>BBS9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30000</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q3SYG4</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">centrosomal protein 290</Name>
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+              <Synonym lang="en">Bardet-Biedl syndrome 14</Synonym>
+              <Synonym lang="en">CT87</Synonym>
+              <Synonym lang="en">FLJ13615</Synonym>
+              <Synonym lang="en">JBTS5</Synonym>
+              <Synonym lang="en">Joubert syndrome 5</Synonym>
+              <Synonym lang="en">KIAA0373</Synonym>
+              <Synonym lang="en">LCA10</Synonym>
+              <Synonym lang="en">MKS4</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 4</Synonym>
+              <Synonym lang="en">NPHP6</Synonym>
+              <Synonym lang="en">POC3</Synonym>
+              <Synonym lang="en">POC3 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN6</Synonym>
+              <Synonym lang="en">cancer/testis antigen 87</Synonym>
+              <Synonym lang="en">nephrocystin-6</Synonym>
+              <Synonym lang="en">rd16</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57103">
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+                <Reference>ENSG00000198707</Reference>
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+                <Reference>29021</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">HT2A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000119401</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <LocusList count="1">
+              <Locus id="26145">
+                <GeneLocus>20p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18327255[PMID]_20301537[PMID]</SourceOfValidation>
+          <Gene id="16405">
+            <Name lang="en">MKS transition zone complex subunit 1</Name>
+            <Symbol>MKS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BBS13</Synonym>
+              <Synonym lang="en">FLJ20345</Synonym>
+              <Synonym lang="en">POC12</Synonym>
+              <Synonym lang="en">POC12 centriolar protein homolog (Chlamydomonas)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57106">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011143</Reference>
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+              <ExternalReference id="31157">
+                <Source>Genatlas</Source>
+                <Reference>MKS1</Reference>
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+              <ExternalReference id="31155">
+                <Source>HGNC</Source>
+                <Reference>7121</Reference>
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+              <ExternalReference id="31154">
+                <Source>OMIM</Source>
+                <Reference>609883</Reference>
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+              <ExternalReference id="97234">
+                <Source>Reactome</Source>
+                <Reference>Q9NXB0</Reference>
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+              <ExternalReference id="33469">
+                <Source>SwissProt</Source>
+                <Reference>Q9NXB0</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20529">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24746959[PMID]</SourceOfValidation>
+          <Gene id="16563">
+            <Name lang="en">nephrocystin 1</Name>
+            <Symbol>NPHP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JBTS4</Synonym>
+              <Synonym lang="en">SLSN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58332">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144061</Reference>
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+              <ExternalReference id="31887">
+                <Source>Genatlas</Source>
+                <Reference>NPHP1</Reference>
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+              <ExternalReference id="31885">
+                <Source>HGNC</Source>
+                <Reference>7905</Reference>
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+              <ExternalReference id="31884">
+                <Source>OMIM</Source>
+                <Reference>607100</Reference>
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+              <ExternalReference id="97243">
+                <Source>Reactome</Source>
+                <Reference>O15259</Reference>
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+              <ExternalReference id="33628">
+                <Source>SwissProt</Source>
+                <Reference>O15259</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q13</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="16699">
+            <Name lang="en">Bardet-Biedl syndrome 12</Name>
+            <Symbol>BBS12</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ35630</Synonym>
+              <Synonym lang="en">FLJ41559</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58403">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181004</Reference>
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+              <ExternalReference id="34582">
+                <Source>Genatlas</Source>
+                <Reference>BBS12</Reference>
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+              <ExternalReference id="34579">
+                <Source>HGNC</Source>
+                <Reference>26648</Reference>
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+              <ExternalReference id="34580">
+                <Source>OMIM</Source>
+                <Reference>610683</Reference>
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+              <ExternalReference id="97247">
+                <Source>Reactome</Source>
+                <Reference>Q6ZW61</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6ZW61</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q27</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20835237[PMID]_20301537[PMID]</SourceOfValidation>
+          <Gene id="19480">
+            <Name lang="en">SHH signaling and ciliogenesis regulator SDCCAG8</Name>
+            <Symbol>SDCCAG8</Symbol>
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+              <Synonym lang="en">BBS16</Synonym>
+              <Synonym lang="en">Bardet-Biedl syndrome 16</Synonym>
+              <Synonym lang="en">CCCAP</Synonym>
+              <Synonym lang="en">NPHP10</Synonym>
+              <Synonym lang="en">NY-CO-8</Synonym>
+              <Synonym lang="en">SLSN7</Synonym>
+              <Synonym lang="en">Senior-Loken syndrome 7</Synonym>
+              <Synonym lang="en">centrosomal colon cancer autoantigen protein</Synonym>
+              <Synonym lang="en">nephrocystin 10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="49298">
+                <Source>HGNC</Source>
+                <Reference>10671</Reference>
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+              <ExternalReference id="49299">
+                <Source>OMIM</Source>
+                <Reference>613524</Reference>
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+              <ExternalReference id="58336">
+                <Source>Reactome</Source>
+                <Reference>Q86SQ7</Reference>
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+              <ExternalReference id="49300">
+                <Source>SwissProt</Source>
+                <Reference>Q86SQ7</Reference>
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+              <ExternalReference id="58335">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054282</Reference>
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+              <ExternalReference id="49297">
+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301537[PMID]</SourceOfValidation>
+          <Gene id="19509">
+            <Name lang="en">WD repeat containing planar cell polarity effector</Name>
+            <Symbol>WDPCP</Symbol>
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+              <Synonym lang="en">BBS15</Synonym>
+              <Synonym lang="en">CPLANE5</Synonym>
+              <Synonym lang="en">fritz</Synonym>
+              <Synonym lang="en">hFrtz</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143951</Reference>
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+              <ExternalReference id="53011">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>28027</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613580</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95876</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22510444[PMID]_20301537[PMID]</SourceOfValidation>
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+            <Name lang="en">leucine zipper transcription factor like 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163818</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25168386[PMID]</SourceOfValidation>
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+            <Name lang="en">intraflagellar transport 172</Name>
+            <Symbol>IFT172</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UG01</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138002</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27008867[PMID]</SourceOfValidation>
+          <Gene id="20696">
+            <Name lang="en">cilia and flagella associated protein 418</Name>
+            <Symbol>CFAP418</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">BBS21</Synonym>
+              <Synonym lang="en">Bardet-Biedl syndrome 21</Synonym>
+              <Synonym lang="en">CORD16</Synonym>
+              <Synonym lang="en">FAP418</Synonym>
+              <Synonym lang="en">FLJ30600</Synonym>
+              <Synonym lang="en">MOT25</Synonym>
+              <Synonym lang="en">RP64</Synonym>
+              <Synonym lang="en">cone-rod dystrophy 16</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57526">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156172</Reference>
+              </ExternalReference>
+              <ExternalReference id="55490">
+                <Source>Genatlas</Source>
+                <Reference>C8orf37</Reference>
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+              <ExternalReference id="55488">
+                <Source>HGNC</Source>
+                <Reference>27232</Reference>
+              </ExternalReference>
+              <ExternalReference id="55489">
+                <Source>OMIM</Source>
+                <Reference>614477</Reference>
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+              <ExternalReference id="55491">
+                <Source>SwissProt</Source>
+                <Reference>Q96NL8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14099">
+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3164">
+      <OrphaCode>3095</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3095</ExpertLink>
+      <Name lang="en">Atypical Rett syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301670[PMID]</SourceOfValidation>
+          <Gene id="16388">
+            <Name lang="en">methyl-CpG binding protein 2</Name>
+            <Symbol>MECP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="31076">
+                <Source>HGNC</Source>
+                <Reference>6990</Reference>
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+              <ExternalReference id="31075">
+                <Source>OMIM</Source>
+                <Reference>300005</Reference>
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+              <ExternalReference id="33452">
+                <Source>SwissProt</Source>
+                <Reference>P51608</Reference>
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+              <ExternalReference id="56763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169057</Reference>
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+              <ExternalReference id="31074">
+                <Source>Genatlas</Source>
+                <Reference>MECP2</Reference>
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+              <ExternalReference id="143919">
+                <Source>Reactome</Source>
+                <Reference>P51608</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq28</GeneLocus>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17903671[PMID]</SourceOfValidation>
+          <Gene id="18077">
+            <Name lang="en">netrin G1</Name>
+            <Symbol>NTNG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0976</Synonym>
+              <Synonym lang="en">Lmnt1</Synonym>
+              <Synonym lang="en">Netrin-G1</Synonym>
+              <Synonym lang="en">netrin G1f</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135059">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2I2</Reference>
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+              <ExternalReference id="58391">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162631</Reference>
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+              <ExternalReference id="41065">
+                <Source>Genatlas</Source>
+                <Reference>NTNG1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23319</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608818</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2I2</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22196487[PMID]_22787626[PMID]</SourceOfValidation>
+          <Gene id="15424">
+            <Name lang="en">cyclin dependent kinase like 5</Name>
+            <Symbol>CDKL5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CFAP247</Synonym>
+              <Synonym lang="en">EIEE2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143928">
+                <Source>Reactome</Source>
+                <Reference>O76039</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O76039</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008086</Reference>
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+              <ExternalReference id="36382">
+                <Source>Genatlas</Source>
+                <Reference>CDKL5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11411</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1986</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32222533[PMID]</SourceOfValidation>
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+            <Name lang="en">structural maintenance of chromosomes 1A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57149">
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+                <Reference>ENSG00000072501</Reference>
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+                <Reference>SMC1A</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q14683</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="24552">
+            <Name lang="en">gamma-aminobutyric acid type B receptor subunit 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136928</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Spinocerebellar ataxia type 29</Name>
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+            <Name lang="en">inositol 1,4,5-trisphosphate receptor type 1</Name>
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+              <Synonym lang="en">IP3R1</Synonym>
+              <Synonym lang="en">Insp3r1</Synonym>
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+      <Name lang="en">Bilateral generalized polymicrogyria</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">brahma homolog</Synonym>
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+                <Source>Reactome</Source>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197102</Reference>
+              </ExternalReference>
+              <ExternalReference id="54642">
+                <Source>Genatlas</Source>
+                <Reference>DYNC1H1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54640">
+                <Source>HGNC</Source>
+                <Reference>2961</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600112</Reference>
+              </ExternalReference>
+              <ExternalReference id="60591">
+                <Source>Reactome</Source>
+                <Reference>Q14204</Reference>
+              </ExternalReference>
+              <ExternalReference id="54643">
+                <Source>SwissProt</Source>
+                <Reference>Q14204</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11655">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18682">
+      <OrphaCode>210110</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=210110</ExpertLink>
+      <Name lang="en">Intermediate osteopetrosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24535816[PMID]_25829125[PMID]</SourceOfValidation>
+          <Gene id="15593">
+            <Name lang="en">T cell immune regulator 1, ATPase H+ transporting V0 subunit a3</Name>
+            <Symbol>TCIRG1</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ATP6N1C</Synonym>
+              <Synonym lang="en">ATP6V0A3</Synonym>
+              <Synonym lang="en">Atp6i</Synonym>
+              <Synonym lang="en">OC-116</Synonym>
+              <Synonym lang="en">OC116</Synonym>
+              <Synonym lang="en">T-cell immune response cDNA 7</Synonym>
+              <Synonym lang="en">TIRC7</Synonym>
+              <Synonym lang="en">V-ATPase subunit a3</Synonym>
+              <Synonym lang="en">a3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110719</Reference>
+              </ExternalReference>
+              <ExternalReference id="37373">
+                <Source>Genatlas</Source>
+                <Reference>TCIRG1</Reference>
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+              <ExternalReference id="27273">
+                <Source>HGNC</Source>
+                <Reference>11647</Reference>
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+              <ExternalReference id="27272">
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+                <Reference>604592</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13488</Reference>
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+              <ExternalReference id="32564">
+                <Source>SwissProt</Source>
+                <Reference>Q13488</Reference>
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+              <ExternalReference id="193661">
+                <Source>IUPHAR</Source>
+                <Reference>825</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12522560[PMID]_20301306[PMID]</SourceOfValidation>
+          <Gene id="15460">
+            <Name lang="en">chloride voltage-gated channel 7</Name>
+            <Symbol>CLCN7</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CLC-7</Synonym>
+              <Synonym lang="en">CLC7</Synonym>
+              <Synonym lang="en">ClC-7</Synonym>
+              <Synonym lang="en">OPTA2</Synonym>
+              <Synonym lang="en">PPP1R63</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 63</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="26626">
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+                <Reference>602727</Reference>
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+              <ExternalReference id="82820">
+                <Source>Reactome</Source>
+                <Reference>P51798</Reference>
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+              <ExternalReference id="32429">
+                <Source>SwissProt</Source>
+                <Reference>P51798</Reference>
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+              <ExternalReference id="57063">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103249</Reference>
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+              <ExternalReference id="26625">
+                <Source>Genatlas</Source>
+                <Reference>CLCN7</Reference>
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+              <ExternalReference id="26627">
+                <Source>HGNC</Source>
+                <Reference>2025</Reference>
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+              <ExternalReference id="193676">
+                <Source>IUPHAR</Source>
+                <Reference>706</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17404618[PMID]</SourceOfValidation>
+          <Gene id="18734">
+            <Name lang="en">pleckstrin homology and RUN domain containing M1</Name>
+            <Symbol>PLEKHM1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0356</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000225190</Reference>
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+              <ExternalReference id="43432">
+                <Source>Genatlas</Source>
+                <Reference>PLEKHM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29017</Reference>
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+              <ExternalReference id="43434">
+                <Source>OMIM</Source>
+                <Reference>611466</Reference>
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+              <ExternalReference id="43435">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4G2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="18683">
+      <OrphaCode>210115</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=210115</ExpertLink>
+      <Name lang="en">Sterile multifocal osteomyelitis with periostitis and pustulosis</Name>
+      <DisorderType id="21394">
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19494218[PMID]</SourceOfValidation>
+          <Gene id="18735">
+            <Name lang="en">interleukin 1 receptor antagonist</Name>
+            <Symbol>IL1RN</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ICIL-1RA</Synonym>
+              <Synonym lang="en">IL-1RN</Synonym>
+              <Synonym lang="en">IL1F3</Synonym>
+              <Synonym lang="en">IL1RA</Synonym>
+              <Synonym lang="en">IRAP</Synonym>
+              <Synonym lang="en">MGC10430</Synonym>
+              <Synonym lang="en">interleukin-1 receptor antagonist protein</Synonym>
+              <Synonym lang="en">intracellular interleukin-1 receptor antagonist</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136689</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="60307">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P18510</Reference>
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+      <Name lang="en">IRIDA syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transmembrane serine protease 6</Name>
+            <Symbol>TMPRSS6</Symbol>
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+              <Synonym lang="en">matriptase-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000187045</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IU80</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital alveolar capillary dysplasia</Name>
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+            <Name lang="en">forkhead box F1</Name>
+            <Symbol>FOXF1</Symbol>
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+              <Synonym lang="en">FREAC1</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">urocanate hydratase 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159650</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135049</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000100749</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22544365[PMID]_25144110[PMID]</SourceOfValidation>
+          <Gene id="21174">
+            <Name lang="en">exosome component 3</Name>
+            <Symbol>EXOSC3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CGI-102</Synonym>
+              <Synonym lang="en">CGI-102 protein</Synonym>
+              <Synonym lang="en">Exosome component Rrp40</Synonym>
+              <Synonym lang="en">RRP40</Synonym>
+              <Synonym lang="en">Rrp40p</Synonym>
+              <Synonym lang="en">exosome component Rrp40</Synonym>
+              <Synonym lang="en">hRrp-40</Synonym>
+              <Synonym lang="en">hRrp40p</Synonym>
+              <Synonym lang="en">p10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83403">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107371</Reference>
+              </ExternalReference>
+              <ExternalReference id="69714">
+                <Source>Genatlas</Source>
+                <Reference>EXOSC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="69711">
+                <Source>HGNC</Source>
+                <Reference>17944</Reference>
+              </ExternalReference>
+              <ExternalReference id="69712">
+                <Source>OMIM</Source>
+                <Reference>606489</Reference>
+              </ExternalReference>
+              <ExternalReference id="83402">
+                <Source>Reactome</Source>
+                <Reference>Q9NQT5</Reference>
+              </ExternalReference>
+              <ExternalReference id="69713">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQT5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25433">
+                <GeneLocus>9p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24989451[PMID]</SourceOfValidation>
+          <Gene id="23079">
+            <Name lang="en">exosome component 8</Name>
+            <Symbol>EXOSC8</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CBP-interacting protein 3</Synonym>
+              <Synonym lang="en">CIP3</Synonym>
+              <Synonym lang="en">EAP2</Synonym>
+              <Synonym lang="en">OIP2</Synonym>
+              <Synonym lang="en">Opa interacting protein 2</Synonym>
+              <Synonym lang="en">RRP43</Synonym>
+              <Synonym lang="en">Rrp43p</Synonym>
+              <Synonym lang="en">bA421P11.3</Synonym>
+              <Synonym lang="en">p9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97015">
+                <Source>Reactome</Source>
+                <Reference>Q96B26</Reference>
+              </ExternalReference>
+              <ExternalReference id="94989">
+                <Source>SwissProt</Source>
+                <Reference>Q96B26</Reference>
+              </ExternalReference>
+              <ExternalReference id="94990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120699</Reference>
+              </ExternalReference>
+              <ExternalReference id="94988">
+                <Source>Genatlas</Source>
+                <Reference>EXOSC8</Reference>
+              </ExternalReference>
+              <ExternalReference id="94986">
+                <Source>HGNC</Source>
+                <Reference>17035</Reference>
+              </ExternalReference>
+              <ExternalReference id="94987">
+                <Source>OMIM</Source>
+                <Reference>606019</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23809">
+                <GeneLocus>13q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28637197[PMID]</SourceOfValidation>
+          <Gene id="23346">
+            <Name lang="en">solute carrier family 25 member 46</Name>
+            <Symbol>SLC25A46</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143346">
+                <Source>Reactome</Source>
+                <Reference>Q96AG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="96192">
+                <Source>HGNC</Source>
+                <Reference>25198</Reference>
+              </ExternalReference>
+              <ExternalReference id="96197">
+                <Source>IUPHAR</Source>
+                <Reference>1096</Reference>
+              </ExternalReference>
+              <ExternalReference id="96193">
+                <Source>OMIM</Source>
+                <Reference>610826</Reference>
+              </ExternalReference>
+              <ExternalReference id="96195">
+                <Source>SwissProt</Source>
+                <Reference>Q96AG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="96196">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164209</Reference>
+              </ExternalReference>
+              <ExternalReference id="96194">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A46</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38409">
+                <GeneLocus>5q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29727687[PMID]</SourceOfValidation>
+          <Gene id="27313">
+            <Name lang="en">exosome component 9</Name>
+            <Symbol>EXOSC9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">PM/Scl-75</Synonym>
+              <Synonym lang="en">RRP45</Synonym>
+              <Synonym lang="en">Rrp45p</Synonym>
+              <Synonym lang="en">p5</Synonym>
+              <Synonym lang="en">p6</Synonym>
+              <Synonym lang="en">polymyositis/scleroderma autoantigen 1 (75kD)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="159179">
+                <Source>HGNC</Source>
+                <Reference>9137</Reference>
+              </ExternalReference>
+              <ExternalReference id="159180">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123737</Reference>
+              </ExternalReference>
+              <ExternalReference id="159181">
+                <Source>SwissProt</Source>
+                <Reference>Q06265</Reference>
+              </ExternalReference>
+              <ExternalReference id="159182">
+                <Source>OMIM</Source>
+                <Reference>606180</Reference>
+              </ExternalReference>
+              <ExternalReference id="159183">
+                <Source>Genatlas</Source>
+                <Reference>EXOSC9</Reference>
+              </ExternalReference>
+              <ExternalReference id="159184">
+                <Source>Reactome</Source>
+                <Reference>Q06265</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="49187">
+                <GeneLocus>4q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18672">
+      <OrphaCode>209951</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209951</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 18</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21330303[PMID]</SourceOfValidation>
+          <Gene id="20466">
+            <Name lang="en">ER lipid raft associated 2</Name>
+            <Symbol>ERLIN2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Erlin-2</Synonym>
+              <Synonym lang="en">NET32</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100334">
+                <Source>Reactome</Source>
+                <Reference>O94905</Reference>
+              </ExternalReference>
+              <ExternalReference id="60557">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147475</Reference>
+              </ExternalReference>
+              <ExternalReference id="54101">
+                <Source>Genatlas</Source>
+                <Reference>ERLIN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="54099">
+                <Source>HGNC</Source>
+                <Reference>1356</Reference>
+              </ExternalReference>
+              <ExternalReference id="54100">
+                <Source>OMIM</Source>
+                <Reference>611605</Reference>
+              </ExternalReference>
+              <ExternalReference id="54102">
+                <Source>SwissProt</Source>
+                <Reference>O94905</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20869">
+                <GeneLocus>8p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18676">
+      <OrphaCode>209967</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209967</ExpertLink>
+      <Name lang="en">Episodic ataxia type 6</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19139306[PMID]</SourceOfValidation>
+          <Gene id="18733">
+            <Name lang="en">solute carrier family 1 member 3</Name>
+            <Symbol>SLC1A3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EA6</Synonym>
+              <Synonym lang="en">EAAT1</Synonym>
+              <Synonym lang="en">GLAST</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57663">
+                <Source>Reactome</Source>
+                <Reference>P43003</Reference>
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+              <ExternalReference id="43426">
+                <Source>SwissProt</Source>
+                <Reference>P43003</Reference>
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+              <ExternalReference id="190462">
+                <Source>IUPHAR</Source>
+                <Reference>868</Reference>
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+              <ExternalReference id="57662">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079215</Reference>
+              </ExternalReference>
+              <ExternalReference id="43423">
+                <Source>Genatlas</Source>
+                <Reference>SLC1A3</Reference>
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+              <ExternalReference id="43424">
+                <Source>HGNC</Source>
+                <Reference>10941</Reference>
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+              <ExternalReference id="43425">
+                <Source>OMIM</Source>
+                <Reference>600111</Reference>
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+              <Locus id="60333">
+                <GeneLocus>5p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18667">
+      <OrphaCode>209908</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209908</ExpertLink>
+      <Name lang="en">Isolated childhood apraxia of speech</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11586359[PMID]_15877281[PMID]</SourceOfValidation>
+          <Gene id="18732">
+            <Name lang="en">forkhead box P2</Name>
+            <Symbol>FOXP2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAG repeat protein 44</Synonym>
+              <Synonym lang="en">CAGH44</Synonym>
+              <Synonym lang="en">forkhead/winged-helix transcription factor</Synonym>
+              <Synonym lang="en">speech and language disorder 1</Synonym>
+              <Synonym lang="en">trinucleotide repeat containing 10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128573</Reference>
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+              <ExternalReference id="43401">
+                <Source>Genatlas</Source>
+                <Reference>FOXP2</Reference>
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+              <ExternalReference id="43402">
+                <Source>HGNC</Source>
+                <Reference>13875</Reference>
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+              <ExternalReference id="43403">
+                <Source>OMIM</Source>
+                <Reference>605317</Reference>
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+              <ExternalReference id="43404">
+                <Source>SwissProt</Source>
+                <Reference>O15409</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15409</Reference>
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+                <GeneLocus>7q31.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>209905</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209905</ExpertLink>
+      <Name lang="en">Brain-lung-thyroid syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24129101[PMID]_24555207[PMID]</SourceOfValidation>
+          <Gene id="17094">
+            <Name lang="en">NK2 homeobox 1</Name>
+            <Symbol>NKX2-1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TTF-1</Synonym>
+              <Synonym lang="en">TTF1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P43699</Reference>
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+              <ExternalReference id="57794">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136352</Reference>
+              </ExternalReference>
+              <ExternalReference id="36080">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11825</Reference>
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+              <ExternalReference id="36079">
+                <Source>OMIM</Source>
+                <Reference>600635</Reference>
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+              <ExternalReference id="36078">
+                <Source>SwissProt</Source>
+                <Reference>P43699</Reference>
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+                <GeneLocus>14q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>209902</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209902</ExpertLink>
+      <Name lang="en">Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>12093894[PMID]</SourceOfValidation>
+          <Gene id="18731">
+            <Name lang="en">cytochrome P450 family 7 subfamily A member 1</Name>
+            <Symbol>CYP7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">cholesterol 7 alpha-monooxygenase</Synonym>
+              <Synonym lang="en">cholesterol 7a-hydroxylase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1354</Reference>
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+              <ExternalReference id="60297">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167910</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CYP7A1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P22680</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+      <OrphaCode>209893</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209893</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11889160[PMID]_11916615[PMID]_16947003[PMID]_17887925[PMID]</SourceOfValidation>
+          <Gene id="18729">
+            <Name lang="en">serpin family A member 7</Name>
+            <Symbol>SERPINA7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">alpha-1 antiproteinase, antitrypsin</Synonym>
+              <Synonym lang="en">thyroxin-binding globulin</Synonym>
+              <Synonym lang="en">thyroxine-binding globulin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123561</Reference>
+              </ExternalReference>
+              <ExternalReference id="43380">
+                <Source>Genatlas</Source>
+                <Reference>SERPINA7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11583</Reference>
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+                <Source>OMIM</Source>
+                <Reference>314200</Reference>
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+              <ExternalReference id="43383">
+                <Source>SwissProt</Source>
+                <Reference>P05543</Reference>
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+            <LocusList count="1">
+              <Locus id="25529">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=209932</ExpertLink>
+      <Name lang="en">Cone dystrophy with supernormal rod response</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17314">
+            <Name lang="en">potassium voltage-gated channel modifier subfamily V member 2</Name>
+            <Symbol>KCNV2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Kv8.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60302">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168263</Reference>
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+              <ExternalReference id="36778">
+                <Source>Genatlas</Source>
+                <Reference>KCNV2</Reference>
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+              <ExternalReference id="36780">
+                <Source>HGNC</Source>
+                <Reference>19698</Reference>
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+              <ExternalReference id="83075">
+                <Source>IUPHAR</Source>
+                <Reference>566</Reference>
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+              <ExternalReference id="36779">
+                <Source>OMIM</Source>
+                <Reference>607604</Reference>
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+              <ExternalReference id="60303">
+                <Source>Reactome</Source>
+                <Reference>Q8TDN2</Reference>
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+              <ExternalReference id="36781">
+                <Source>SwissProt</Source>
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+      <Name lang="en">Extraskeletal myxoid chondrosarcoma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15604">
+            <Name lang="en">trafficking from ER to golgi regulator</Name>
+            <Symbol>TFG</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57798">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114354</Reference>
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+              <ExternalReference id="37376">
+                <Source>Genatlas</Source>
+                <Reference>TFG</Reference>
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+              <ExternalReference id="27325">
+                <Source>HGNC</Source>
+                <Reference>11758</Reference>
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+              <ExternalReference id="27324">
+                <Source>OMIM</Source>
+                <Reference>602498</Reference>
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+              <ExternalReference id="97186">
+                <Source>Reactome</Source>
+                <Reference>Q92734</Reference>
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+                <Reference>Q92734</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18855877[PMID]</SourceOfValidation>
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+            <Name lang="en">EWS RNA binding protein 1</Name>
+            <Symbol>EWSR1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182944</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EWSR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3508</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Symbol>TCF12</Symbol>
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+              <Synonym lang="en">Helix-loop-helix transcription factor 4</Synonym>
+              <Synonym lang="en">HsT17266</Synonym>
+              <Synonym lang="en">bHLHb20</Synonym>
+              <Synonym lang="en">helix-loop-helix transcription factor 4</Synonym>
+              <Synonym lang="en">p64</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000119508</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22422768[PMID]_20301466[PMID]</SourceOfValidation>
+          <Gene id="21190">
+            <Name lang="en">triadin</Name>
+            <Symbol>TRDN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TRISK</Synonym>
+              <Synonym lang="en">triadin in skeletal muscle</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186439</Reference>
+              </ExternalReference>
+              <ExternalReference id="69846">
+                <Source>Genatlas</Source>
+                <Reference>TRDN</Reference>
+              </ExternalReference>
+              <ExternalReference id="69844">
+                <Source>HGNC</Source>
+                <Reference>12261</Reference>
+              </ExternalReference>
+              <ExternalReference id="69845">
+                <Source>OMIM</Source>
+                <Reference>603283</Reference>
+              </ExternalReference>
+              <ExternalReference id="83429">
+                <Source>Reactome</Source>
+                <Reference>Q13061</Reference>
+              </ExternalReference>
+              <ExternalReference id="69847">
+                <Source>SwissProt</Source>
+                <Reference>Q13061</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12029">
+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301466[PMID]</SourceOfValidation>
+          <Gene id="15238">
+            <Name lang="en">ryanodine receptor 2</Name>
+            <Symbol>RYR2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ARVC2</Synonym>
+              <Synonym lang="en">VTSIP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193551">
+                <Source>IUPHAR</Source>
+                <Reference>748</Reference>
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+              <ExternalReference id="58632">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198626</Reference>
+              </ExternalReference>
+              <ExternalReference id="25559">
+                <Source>Genatlas</Source>
+                <Reference>RYR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25561">
+                <Source>HGNC</Source>
+                <Reference>10484</Reference>
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+              <ExternalReference id="25560">
+                <Source>OMIM</Source>
+                <Reference>180902</Reference>
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+              <ExternalReference id="82767">
+                <Source>Reactome</Source>
+                <Reference>Q92736</Reference>
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+              <ExternalReference id="33796">
+                <Source>SwissProt</Source>
+                <Reference>Q92736</Reference>
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+            <LocusList count="1">
+              <Locus id="66511">
+                <GeneLocus>1q43</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23040497[PMID]_20301466[PMID]</SourceOfValidation>
+          <Gene id="21574">
+            <Name lang="en">calmodulin 1</Name>
+            <Symbol>CALM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAMI</Synonym>
+              <Synonym lang="en">DD132</Synonym>
+              <Synonym lang="en">PHKD</Synonym>
+              <Synonym lang="en">phosphorylase kinase subunit delta</Synonym>
+              <Synonym lang="en">prepro-calmodulin 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83545">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198668</Reference>
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+              <ExternalReference id="74744">
+                <Source>Genatlas</Source>
+                <Reference>CALM1</Reference>
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+              <ExternalReference id="74742">
+                <Source>HGNC</Source>
+                <Reference>1442</Reference>
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+              <ExternalReference id="74743">
+                <Source>OMIM</Source>
+                <Reference>114180</Reference>
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+              <ExternalReference id="83544">
+                <Source>Reactome</Source>
+                <Reference>P62158</Reference>
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+              <ExternalReference id="189393">
+                <Source>SwissProt</Source>
+                <Reference>P0DP23</Reference>
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+              <Locus id="58631">
+                <GeneLocus>14q32.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24917665[PMID]</SourceOfValidation>
+          <Gene id="23132">
+            <Name lang="en">calmodulin 2</Name>
+            <Symbol>CALM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CAMII</Synonym>
+              <Synonym lang="en">PHKD</Synonym>
+              <Synonym lang="en">phosphorylase kinase subunit delta</Synonym>
+              <Synonym lang="en">prepro-calmodulin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143933</Reference>
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+              <ExternalReference id="95240">
+                <Source>Genatlas</Source>
+                <Reference>CALM2</Reference>
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+              <ExternalReference id="95238">
+                <Source>HGNC</Source>
+                <Reference>1445</Reference>
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+              <ExternalReference id="95239">
+                <Source>OMIM</Source>
+                <Reference>114182</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0DP24</Reference>
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+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="23349">
+            <Name lang="en">calmodulin 3</Name>
+            <Symbol>CALM3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PHKD</Synonym>
+              <Synonym lang="en">phosphorylase kinase subunit delta</Synonym>
+              <Synonym lang="en">prepro-calmodulin 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96232">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160014</Reference>
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+              <ExternalReference id="96230">
+                <Source>Genatlas</Source>
+                <Reference>CALM3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1449</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114183</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0DP25</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27861123[PMID]</SourceOfValidation>
+          <Gene id="25169">
+            <Name lang="en">trans-2,3-enoyl-CoA reductase like</Name>
+            <Symbol>TECRL</Symbol>
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+              <Synonym lang="en">DKFZp313D0829</Synonym>
+              <Synonym lang="en">GPSN2L</Synonym>
+              <Synonym lang="en">SRD5A2L2</Synonym>
+              <Synonym lang="en">TERL</Synonym>
+              <Synonym lang="en">glycoprotein, synaptic 2-like</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q5HYJ1</Reference>
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+              <ExternalReference id="135361">
+                <Source>Reactome</Source>
+                <Reference>Q5HYJ1</Reference>
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+              <ExternalReference id="135362">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205678</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Macrocephaly-intellectual disability-autism syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
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+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="20101">
+            <Name lang="en">hepatic and glial cell adhesion molecule</Name>
+            <Symbol>HEPACAM</Symbol>
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+              <Synonym lang="en">glial cell adhesion molecule</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165478</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14CZ8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Adult hepatocellular carcinoma</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">axin 1</Name>
+            <Symbol>AXIN1</Symbol>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 49</Synonym>
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+                <Source>HGNC</Source>
+                <Reference>903</Reference>
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+                <Reference>AXIN1</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+          <Gene id="16839">
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+            <Symbol>TP53</Symbol>
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+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
+              </ExternalReference>
+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
+              </ExternalReference>
+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
+              </ExternalReference>
+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7791">
+                <GeneLocus>17p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7898930[PMID]_12653892[PMID]</SourceOfValidation>
+          <Gene id="25290">
+            <Name lang="en">platelet derived growth factor receptor like</Name>
+            <Symbol>PDGFRL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PRLTS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="138517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104213</Reference>
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+              <ExternalReference id="138518">
+                <Source>OMIM</Source>
+                <Reference>604584</Reference>
+              </ExternalReference>
+              <ExternalReference id="138519">
+                <Source>HGNC</Source>
+                <Reference>8805</Reference>
+              </ExternalReference>
+              <ExternalReference id="138520">
+                <Source>Genatlas</Source>
+                <Reference>PDGFRL</Reference>
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+              <ExternalReference id="143876">
+                <Source>SwissProt</Source>
+                <Reference>Q15198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39217">
+                <GeneLocus>8p22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10435629[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
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+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
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+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
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+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
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+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27974549[PMID]</SourceOfValidation>
+          <Gene id="15669">
+            <Name lang="en">TSC complex subunit 2</Name>
+            <Symbol>TSC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">PPP1R160</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 160</Synonym>
+              <Synonym lang="en">tuberin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27632">
+                <Source>OMIM</Source>
+                <Reference>191092</Reference>
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+              <ExternalReference id="57593">
+                <Source>Reactome</Source>
+                <Reference>P49815</Reference>
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+              <ExternalReference id="32641">
+                <Source>SwissProt</Source>
+                <Reference>P49815</Reference>
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+              <ExternalReference id="57592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103197</Reference>
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+              <ExternalReference id="27635">
+                <Source>Genatlas</Source>
+                <Reference>TSC2</Reference>
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+              <ExternalReference id="27633">
+                <Source>HGNC</Source>
+                <Reference>12363</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27974549[PMID]</SourceOfValidation>
+          <Gene id="15668">
+            <Name lang="en">TSC complex subunit 1</Name>
+            <Symbol>TSC1</Symbol>
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+              <Synonym lang="en">KIAA0243</Synonym>
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">hamartin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165699</Reference>
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+              <ExternalReference id="27627">
+                <Source>Genatlas</Source>
+                <Reference>TSC1</Reference>
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+              <ExternalReference id="27629">
+                <Source>HGNC</Source>
+                <Reference>12362</Reference>
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+              <ExternalReference id="27628">
+                <Source>OMIM</Source>
+                <Reference>605284</Reference>
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+              <ExternalReference id="57591">
+                <Source>Reactome</Source>
+                <Reference>Q92574</Reference>
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+              <ExternalReference id="32640">
+                <Source>SwissProt</Source>
+                <Reference>Q92574</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21440548[PMID]</SourceOfValidation>
+          <Gene id="18428">
+            <Name lang="en">epidermal growth factor</Name>
+            <Symbol>EGF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Pro-epidermal growth factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58986">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138798</Reference>
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+              <ExternalReference id="42161">
+                <Source>Genatlas</Source>
+                <Reference>EGF</Reference>
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+              <ExternalReference id="42162">
+                <Source>HGNC</Source>
+                <Reference>3229</Reference>
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+              <ExternalReference id="42163">
+                <Source>OMIM</Source>
+                <Reference>131530</Reference>
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+              <ExternalReference id="58987">
+                <Source>Reactome</Source>
+                <Reference>P01133</Reference>
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+              <ExternalReference id="46804">
+                <Source>SwissProt</Source>
+                <Reference>P01133</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18691">
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+      <Name lang="en">Congenital lethal myopathy, Compton-North type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19026398[PMID]</SourceOfValidation>
+          <Gene id="18730">
+            <Name lang="en">contactin 1</Name>
+            <Symbol>CNTN1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">GP135</Synonym>
+              <Synonym lang="en">glycoprotein gP135</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60314">
+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>CNTN1</Reference>
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+              <ExternalReference id="43388">
+                <Source>HGNC</Source>
+                <Reference>2171</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60315">
+                <Source>Reactome</Source>
+                <Reference>Q12860</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12860</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">KN motif and ankyrin repeat domains 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59654">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107104</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14678</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">glutamate decarboxylase 1</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128683</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q99259</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="22668">
+            <Name lang="en">adducin 3</Name>
+            <Symbol>ADD3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">gamma-adducin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="88020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148700</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O95837</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156049</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18709">
+      <OrphaCode>211067</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=211067</ExpertLink>
+      <Name lang="en">Episodic ataxia type 5</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10762541[PMID]</SourceOfValidation>
+          <Gene id="15396">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit beta 4</Name>
+            <Symbol>CACNB4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EJM4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="26320">
+                <Source>HGNC</Source>
+                <Reference>1404</Reference>
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+              <ExternalReference id="26319">
+                <Source>OMIM</Source>
+                <Reference>601949</Reference>
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+              <ExternalReference id="56771">
+                <Source>Reactome</Source>
+                <Reference>O00305</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00305</Reference>
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+              <ExternalReference id="56770">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182389</Reference>
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+              <ExternalReference id="37352">
+                <Source>Genatlas</Source>
+                <Reference>CACNB4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18704">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=211017</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 30</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="18728">
+            <Name lang="en">spinocerebellar ataxia 30</Name>
+            <Symbol>SCA30</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3551">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=656</ExpertLink>
+      <Name lang="en">Genetic steroid-resistant nephrotic syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="31">
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+          <Gene id="24683">
+            <Name lang="en">membrane associated guanylate kinase, WW and PDZ domain containing 2</Name>
+            <Symbol>MAGI2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ACVRIP1</Synonym>
+              <Synonym lang="en">AIP1</Synonym>
+              <Synonym lang="en">ARIP1</Synonym>
+              <Synonym lang="en">KIAA0705</Synonym>
+              <Synonym lang="en">MAGI-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="134397">
+                <Source>Reactome</Source>
+                <Reference>Q86UL8</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UL8</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33232676[PMID]</SourceOfValidation>
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+            <Symbol>DAAM2</Symbol>
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+              <Synonym lang="en">KIAA0381</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146122</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <Gene id="15077">
+            <Name lang="en">actinin alpha 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="36673">
+                <Source>SwissProt</Source>
+                <Reference>Q9P212</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60255">
+                <GeneLocus>10q23.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20023659[PMID]</SourceOfValidation>
+          <Gene id="18996">
+            <Name lang="en">inverted formin, FH2 and WH2 domain containing</Name>
+            <Symbol>INF2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC13251</Synonym>
+              <Synonym lang="en">inverted formin 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59662">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203485</Reference>
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+              <ExternalReference id="44578">
+                <Source>Genatlas</Source>
+                <Reference>INF2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23791</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610982</Reference>
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+              <ExternalReference id="44581">
+                <Source>SwissProt</Source>
+                <Reference>Q27J81</Reference>
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+                <GeneLocus>14q32.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17713465[PMID]</SourceOfValidation>
+          <Gene id="19254">
+            <Name lang="en">CD2 associated protein</Name>
+            <Symbol>CD2AP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>14258</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604241</Reference>
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+              <ExternalReference id="59661">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5K6</Reference>
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+              <ExternalReference id="46945">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5K6</Reference>
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+              <ExternalReference id="59660">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198087</Reference>
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+              <ExternalReference id="46944">
+                <Source>Genatlas</Source>
+                <Reference>CD2AP</Reference>
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+                <GeneLocus>6p12.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21756023[PMID]</SourceOfValidation>
+          <Gene id="20283">
+            <Name lang="en">myosin IE</Name>
+            <Symbol>MYO1E</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HuncM-IC</Synonym>
+              <Synonym lang="en">MGC104638</Synonym>
+              <Synonym lang="en">MYO1C</Synonym>
+              <Synonym lang="en">myosin-IC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142995">
+                <Source>Reactome</Source>
+                <Reference>Q12965</Reference>
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+              <ExternalReference id="52227">
+                <Source>SwissProt</Source>
+                <Reference>Q12965</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157483</Reference>
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+              <ExternalReference id="52226">
+                <Source>Genatlas</Source>
+                <Reference>MYO1E</Reference>
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+              <ExternalReference id="52224">
+                <Source>HGNC</Source>
+                <Reference>7599</Reference>
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+              <ExternalReference id="52225">
+                <Source>OMIM</Source>
+                <Reference>601479</Reference>
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+                <GeneLocus>15q22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21722858[PMID]</SourceOfValidation>
+          <Gene id="20296">
+            <Name lang="en">protein tyrosine phosphatase receptor type O</Name>
+            <Symbol>PTPRO</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GLEPP1</Synonym>
+              <Synonym lang="en">NPHS6</Synonym>
+              <Synonym lang="en">PTP-U2</Synonym>
+              <Synonym lang="en">PTP-oc</Synonym>
+              <Synonym lang="en">PTPU2</Synonym>
+              <Synonym lang="en">osteoclastic transmembrane protein-tyrosine phosphatase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="143304">
+                <Source>Reactome</Source>
+                <Reference>Q16827</Reference>
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+              <ExternalReference id="59672">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151490</Reference>
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+              <ExternalReference id="52300">
+                <Source>Genatlas</Source>
+                <Reference>PTPRO</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9678</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600579</Reference>
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+              <ExternalReference id="52301">
+                <Source>SwissProt</Source>
+                <Reference>Q16827</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1863</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21911940[PMID]</SourceOfValidation>
+          <Gene id="20657">
+            <Name lang="en">Rho GTPase activating protein 24</Name>
+            <Symbol>ARHGAP24</Symbol>
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+              <Synonym lang="en">DKFZP564B1162</Synonym>
+              <Synonym lang="en">FLJ33877</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59666">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138639</Reference>
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+              <ExternalReference id="54839">
+                <Source>Genatlas</Source>
+                <Reference>ARHGAP24</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25361</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610586</Reference>
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+              <ExternalReference id="59667">
+                <Source>Reactome</Source>
+                <Reference>Q8N264</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="22566">
+            <Name lang="en">coenzyme Q8B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123815</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>26411495[PMID]</SourceOfValidation>
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+            <Name lang="en">nucleoporin 107</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30179222[PMID]</SourceOfValidation>
+          <Gene id="27665">
+            <Name lang="en">nucleoporin 85</Name>
+            <Symbol>NUP85</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ12549</Synonym>
+              <Synonym lang="en">NUP75</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>170285</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125450</Reference>
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+              <ExternalReference id="161070">
+                <Source>SwissProt</Source>
+                <Reference>Q9BW27</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BW27</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30179222[PMID]</SourceOfValidation>
+          <Gene id="27666">
+            <Name lang="en">nucleoporin 37</Name>
+            <Symbol>NUP37</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22618</Synonym>
+              <Synonym lang="en">MGC5585</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075188</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NFH4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8NFH4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30179222[PMID]</SourceOfValidation>
+          <Gene id="27693">
+            <Name lang="en">nucleoporin 160</Name>
+            <Symbol>NUP160</Symbol>
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+              <Synonym lang="en">FLJ22583</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000030066</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q12769</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30179222[PMID]</SourceOfValidation>
+          <Gene id="27694">
+            <Name lang="en">nucleoporin 133</Name>
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+              <Synonym lang="en">FLJ10814</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000069248</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WUM0</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WUM0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30661770[PMID]</SourceOfValidation>
+          <Gene id="28065">
+            <Name lang="en">TBC1 domain family member 8B</Name>
+            <Symbol>TBC1D8B</Symbol>
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+              <Synonym lang="en">FLJ20298</Synonym>
+              <Synonym lang="en">GRAMD8B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133138</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q0IIM8</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q0IIM8</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29959197[PMID]</SourceOfValidation>
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+              <Synonym lang="en">rabankyrin-5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9P2R3</Reference>
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+      <Name lang="en">Propionic acidemia</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22593918[PMID]</SourceOfValidation>
+          <Gene id="16618">
+            <Name lang="en">propionyl-CoA carboxylase subunit alpha</Name>
+            <Symbol>PCCA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190390">
+                <Source>IUPHAR</Source>
+                <Reference>1266</Reference>
+              </ExternalReference>
+              <ExternalReference id="58639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175198</Reference>
+              </ExternalReference>
+              <ExternalReference id="32151">
+                <Source>Genatlas</Source>
+                <Reference>PCCA</Reference>
+              </ExternalReference>
+              <ExternalReference id="32149">
+                <Source>HGNC</Source>
+                <Reference>8653</Reference>
+              </ExternalReference>
+              <ExternalReference id="32148">
+                <Source>OMIM</Source>
+                <Reference>232000</Reference>
+              </ExternalReference>
+              <ExternalReference id="58640">
+                <Source>Reactome</Source>
+                <Reference>P05165</Reference>
+              </ExternalReference>
+              <ExternalReference id="33683">
+                <Source>SwissProt</Source>
+                <Reference>P05165</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60189">
+                <GeneLocus>13q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22593918[PMID]</SourceOfValidation>
+          <Gene id="16619">
+            <Name lang="en">propionyl-CoA carboxylase subunit beta</Name>
+            <Symbol>PCCB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114054</Reference>
+              </ExternalReference>
+              <ExternalReference id="37553">
+                <Source>Genatlas</Source>
+                <Reference>PCCB</Reference>
+              </ExternalReference>
+              <ExternalReference id="32154">
+                <Source>HGNC</Source>
+                <Reference>8654</Reference>
+              </ExternalReference>
+              <ExternalReference id="32153">
+                <Source>OMIM</Source>
+                <Reference>232050</Reference>
+              </ExternalReference>
+              <ExternalReference id="58642">
+                <Source>Reactome</Source>
+                <Reference>P05166</Reference>
+              </ExternalReference>
+              <ExternalReference id="33684">
+                <Source>SwissProt</Source>
+                <Reference>P05166</Reference>
+              </ExternalReference>
+              <ExternalReference id="190389">
+                <Source>IUPHAR</Source>
+                <Reference>1267</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60187">
+                <GeneLocus>3q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3558">
+      <OrphaCode>663</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=663</ExpertLink>
+      <Name lang="en">Mitochondrial DNA-related progressive external ophthalmoplegia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23696415[PMID]</SourceOfValidation>
+          <Gene id="17722">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (UCN) 1</Name>
+            <Symbol>MT-TS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNS1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210151</Reference>
+              </ExternalReference>
+              <ExternalReference id="39137">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39138">
+                <Source>HGNC</Source>
+                <Reference>7497</Reference>
+              </ExternalReference>
+              <ExternalReference id="39139">
+                <Source>OMIM</Source>
+                <Reference>590080</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10371">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23696415[PMID]</SourceOfValidation>
+          <Gene id="18354">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (CUN) 2</Name>
+            <Symbol>MT-TL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL2</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83133">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210191</Reference>
+              </ExternalReference>
+              <ExternalReference id="41697">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="41699">
+                <Source>HGNC</Source>
+                <Reference>7491</Reference>
+              </ExternalReference>
+              <ExternalReference id="41698">
+                <Source>OMIM</Source>
+                <Reference>590055</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10667">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23696415[PMID]</SourceOfValidation>
+          <Gene id="22385">
+            <Name lang="en">mitochondrially encoded tRNA-Asn (AAU/C)</Name>
+            <Symbol>MT-TN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnN</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83998">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210135</Reference>
+              </ExternalReference>
+              <ExternalReference id="84664">
+                <Source>Genatlas</Source>
+                <Reference>MT-TN</Reference>
+              </ExternalReference>
+              <ExternalReference id="81729">
+                <Source>HGNC</Source>
+                <Reference>7493</Reference>
+              </ExternalReference>
+              <ExternalReference id="81730">
+                <Source>OMIM</Source>
+                <Reference>590010</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12803">
+                <GeneLocus>mitochondria</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16841">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
+            <Symbol>MT-TL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
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+              <ExternalReference id="35211">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL1</Reference>
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+              <ExternalReference id="35210">
+                <Source>HGNC</Source>
+                <Reference>7490</Reference>
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+              <ExternalReference id="35884">
+                <Source>OMIM</Source>
+                <Reference>590050</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3552">
+      <OrphaCode>220</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=220</ExpertLink>
+      <Name lang="en">Denys-Drash syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>1655284[PMID]</SourceOfValidation>
+          <Gene id="15731">
+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
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+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
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+              <ExternalReference id="27922">
+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
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+              <ExternalReference id="27921">
+                <Source>OMIM</Source>
+                <Reference>607102</Reference>
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+              <ExternalReference id="32703">
+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
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+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3555">
+      <OrphaCode>5</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=5</ExpertLink>
+      <Name lang="en">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16781">
+            <Name lang="en">hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha</Name>
+            <Symbol>HADHA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">GBP</Synonym>
+              <Synonym lang="en">LCEH</Synonym>
+              <Synonym lang="en">LCHAD</Synonym>
+              <Synonym lang="en">MTPA</Synonym>
+              <Synonym lang="en">gastrin-binding protein</Synonym>
+              <Synonym lang="en">long-chain 2-enoyl-CoA hydratase</Synonym>
+              <Synonym lang="en">long-chain-3-hydroxyacyl-CoA dehydrogenase</Synonym>
+              <Synonym lang="en">mitochondrial trifunctional protein, alpha subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084754</Reference>
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+              <ExternalReference id="34904">
+                <Source>Genatlas</Source>
+                <Reference>HADHA</Reference>
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+              <ExternalReference id="34902">
+                <Source>HGNC</Source>
+                <Reference>4801</Reference>
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+              <ExternalReference id="34905">
+                <Source>OMIM</Source>
+                <Reference>600890</Reference>
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+              <ExternalReference id="58525">
+                <Source>Reactome</Source>
+                <Reference>P40939</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40939</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3564">
+      <OrphaCode>25</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=25</ExpertLink>
+      <Name lang="en">Glutaryl-CoA dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">glutaryl-CoA dehydrogenase</Name>
+            <Symbol>GCDH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ACAD5</Synonym>
+              <Synonym lang="en">GCD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58650">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105607</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GCDH</Reference>
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+                <Reference>4189</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608801</Reference>
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+              <ExternalReference id="58651">
+                <Source>Reactome</Source>
+                <Reference>Q92947</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92947</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>618</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=618</ExpertLink>
+      <Name lang="en">Familial melanoma</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19585149[PMID]</SourceOfValidation>
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+            <Name lang="en">cyclin dependent kinase 4</Name>
+            <Symbol>CDK4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PSK-J3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135446</Reference>
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+              <ExternalReference id="36696">
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+                <Reference>CDK4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1773</Reference>
+              </ExternalReference>
+              <ExternalReference id="82805">
+                <Source>IUPHAR</Source>
+                <Reference>1976</Reference>
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+                <Source>OMIM</Source>
+                <Reference>123829</Reference>
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+              <ExternalReference id="58644">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P11802</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19585149[PMID]</SourceOfValidation>
+          <Gene id="15426">
+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
+            <Symbol>CDKN2A</Symbol>
+            <SynonymList count="12">
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+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">CMM2</Synonym>
+              <Synonym lang="en">INK4</Synonym>
+              <Synonym lang="en">INK4a</Synonym>
+              <Synonym lang="en">MTS1</Synonym>
+              <Synonym lang="en">p14</Synonym>
+              <Synonym lang="en">p14ARF</Synonym>
+              <Synonym lang="en">p16</Synonym>
+              <Synonym lang="en">p16INK4a</Synonym>
+              <Synonym lang="en">p19</Synonym>
+              <Synonym lang="en">p19Arf</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000147889</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CDKN2A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1787</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600160</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P42771</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42771</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25431349[PMID]</SourceOfValidation>
+          <Gene id="16402">
+            <Name lang="en">melanocyte inducing transcription factor</Name>
+            <Symbol>MITF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MI</Synonym>
+              <Synonym lang="en">bHLHe32</Synonym>
+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187098</Reference>
+              </ExternalReference>
+              <ExternalReference id="31143">
+                <Source>Genatlas</Source>
+                <Reference>MITF</Reference>
+              </ExternalReference>
+              <ExternalReference id="31141">
+                <Source>HGNC</Source>
+                <Reference>7105</Reference>
+              </ExternalReference>
+              <ExternalReference id="31140">
+                <Source>OMIM</Source>
+                <Reference>156845</Reference>
+              </ExternalReference>
+              <ExternalReference id="98067">
+                <Source>Reactome</Source>
+                <Reference>O75030</Reference>
+              </ExternalReference>
+              <ExternalReference id="33466">
+                <Source>SwissProt</Source>
+                <Reference>O75030</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18733">
+                <GeneLocus>3p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23348503[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57327">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
+              </ExternalReference>
+              <ExternalReference id="34945">
+                <Source>Genatlas</Source>
+                <Reference>TERT</Reference>
+              </ExternalReference>
+              <ExternalReference id="34943">
+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
+              </ExternalReference>
+              <ExternalReference id="34944">
+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
+              </ExternalReference>
+              <ExternalReference id="57328">
+                <Source>Reactome</Source>
+                <Reference>O14746</Reference>
+              </ExternalReference>
+              <ExternalReference id="35095">
+                <Source>SwissProt</Source>
+                <Reference>O14746</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9697">
+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24238329[PMID]_24258989[PMID]</SourceOfValidation>
+          <Gene id="16925">
+            <Name lang="en">melanocortin 1 receptor</Name>
+            <Symbol>MC1R</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MSH-R</Synonym>
+              <Synonym lang="en">alpha melanocyte stimulating hormone receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58647">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258839</Reference>
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+              <ExternalReference id="35564">
+                <Source>Genatlas</Source>
+                <Reference>MC1R</Reference>
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+              <ExternalReference id="35565">
+                <Source>HGNC</Source>
+                <Reference>6929</Reference>
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+              <ExternalReference id="83056">
+                <Source>IUPHAR</Source>
+                <Reference>282</Reference>
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+              <ExternalReference id="35567">
+                <Source>OMIM</Source>
+                <Reference>155555</Reference>
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+              <ExternalReference id="58648">
+                <Source>Reactome</Source>
+                <Reference>Q01726</Reference>
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+              <ExternalReference id="35566">
+                <Source>SwissProt</Source>
+                <Reference>Q01726</Reference>
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+            <LocusList count="1">
+              <Locus id="9839">
+                <GeneLocus>16q24.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25431349[PMID]</SourceOfValidation>
+          <Gene id="20738">
+            <Name lang="en">BRCA1 associated protein 1</Name>
+            <Symbol>BAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0272</Synonym>
+              <Synonym lang="en">UCHL2</Synonym>
+              <Synonym lang="en">hucep-6</Synonym>
+              <Synonym lang="en">ubiquitin carboxy-terminal hydrolase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126405">
+                <Source>Reactome</Source>
+                <Reference>Q92560</Reference>
+              </ExternalReference>
+              <ExternalReference id="60620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163930</Reference>
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+              <ExternalReference id="55818">
+                <Source>Genatlas</Source>
+                <Reference>BAP1</Reference>
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+              <ExternalReference id="55816">
+                <Source>HGNC</Source>
+                <Reference>950</Reference>
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+              <ExternalReference id="83235">
+                <Source>IUPHAR</Source>
+                <Reference>2332</Reference>
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+              <ExternalReference id="55817">
+                <Source>OMIM</Source>
+                <Reference>603089</Reference>
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+              <ExternalReference id="55819">
+                <Source>SwissProt</Source>
+                <Reference>Q92560</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p21.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20850">
+            <Name lang="en">cyclin dependent kinase inhibitor 2B</Name>
+            <Symbol>CDKN2B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">INK4B</Synonym>
+              <Synonym lang="en">MTS2</Synonym>
+              <Synonym lang="en">P15</Synonym>
+              <Synonym lang="en">TP15</Synonym>
+              <Synonym lang="en">p15INK4b</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83305">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147883</Reference>
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+              <ExternalReference id="61248">
+                <Source>Genatlas</Source>
+                <Reference>CDKN2B</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>600431</Reference>
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+              <ExternalReference id="83304">
+                <Source>Reactome</Source>
+                <Reference>P42772</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42772</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24801985[PMID]</SourceOfValidation>
+          <Gene id="22077">
+            <Name lang="en">O-6-methylguanine-DNA methyltransferase</Name>
+            <Symbol>MGMT</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83808">
+                <Source>Ensembl</Source>
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+              <ExternalReference id="79267">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="79265">
+                <Source>HGNC</Source>
+                <Reference>7059</Reference>
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+              <ExternalReference id="79266">
+                <Source>OMIM</Source>
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+              <ExternalReference id="83807">
+                <Source>Reactome</Source>
+                <Reference>P16455</Reference>
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+              <ExternalReference id="79268">
+                <Source>SwissProt</Source>
+                <Reference>P16455</Reference>
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+              <Locus id="22597">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24686846[PMID]_24686849[PMID]</SourceOfValidation>
+          <Gene id="22138">
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+              <Synonym lang="en">DKFZp586D211</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83822">
+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83821">
+                <Source>Reactome</Source>
+                <Reference>Q9NUX5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ACD shelterin complex subunit and telomerase recruitment factor</Name>
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+              <Synonym lang="en">TIN2 interacting protein 1</Synonym>
+              <Synonym lang="en">Tint1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000102977</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">7-dehydrocholesterol reductase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172893</Reference>
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+                <Reference>2860</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58662">
+                <Source>Reactome</Source>
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+                <Reference>Q9UBM7</Reference>
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+      <Name lang="en">Adenocarcinoma of ovary</Name>
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+            <Name lang="en">inhibin subunit beta A</Name>
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+                <Reference>6066</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Cartilage-hair hypoplasia</Name>
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+            <Name lang="en">RNA component of mitochondrial RNA processing endoribonuclease</Name>
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+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="96056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277027</Reference>
+              </ExternalReference>
+              <ExternalReference id="35160">
+                <Source>Genatlas</Source>
+                <Reference>RMRP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35158">
+                <Source>HGNC</Source>
+                <Reference>10031</Reference>
+              </ExternalReference>
+              <ExternalReference id="35159">
+                <Source>OMIM</Source>
+                <Reference>157660</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15897">
+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3570">
+      <OrphaCode>42</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=42</ExpertLink>
+      <Name lang="en">Medium chain acyl-CoA dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301597[PMID]</SourceOfValidation>
+          <Gene id="15064">
+            <Name lang="en">acyl-CoA dehydrogenase medium chain</Name>
+            <Symbol>ACADM</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ACAD1</Synonym>
+              <Synonym lang="en">MCAD</Synonym>
+              <Synonym lang="en">MCADH</Synonym>
+              <Synonym lang="en">medium-chain acyl-CoA dehydrogenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117054</Reference>
+              </ExternalReference>
+              <ExternalReference id="24731">
+                <Source>Genatlas</Source>
+                <Reference>ACADM</Reference>
+              </ExternalReference>
+              <ExternalReference id="24729">
+                <Source>HGNC</Source>
+                <Reference>89</Reference>
+              </ExternalReference>
+              <ExternalReference id="24728">
+                <Source>OMIM</Source>
+                <Reference>607008</Reference>
+              </ExternalReference>
+              <ExternalReference id="58658">
+                <Source>Reactome</Source>
+                <Reference>P11310</Reference>
+              </ExternalReference>
+              <ExternalReference id="32341">
+                <Source>SwissProt</Source>
+                <Reference>P11310</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="25145">
+                <GeneLocus>1p31.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="18745">
+      <OrphaCode>213524</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=213524</ExpertLink>
+      <Name lang="en">Hereditary site-specific ovarian cancer syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16112002[PMID]</SourceOfValidation>
+          <Gene id="15377">
+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 1</Synonym>
+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
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+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
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+              <ExternalReference id="26226">
+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
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+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
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+              <ExternalReference id="33934">
+                <Source>SwissProt</Source>
+                <Reference>P38398</Reference>
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+            <LocusList count="1">
+              <Locus id="14119">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16112002[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33935">
+                <Source>SwissProt</Source>
+                <Reference>P51587</Reference>
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+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+              <ExternalReference id="26233">
+                <Source>Genatlas</Source>
+                <Reference>BRCA2</Reference>
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+              <ExternalReference id="26231">
+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
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+              <ExternalReference id="26230">
+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
+              </ExternalReference>
+              <ExternalReference id="57416">
+                <Source>Reactome</Source>
+                <Reference>P51587</Reference>
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+            <LocusList count="1">
+              <Locus id="15863">
+                <GeneLocus>13q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3577">
+      <OrphaCode>2066</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2066</ExpertLink>
+      <Name lang="en">Gamma-aminobutyric acid transaminase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9746906[PMID]_10407778[PMID]</SourceOfValidation>
+          <Gene id="15048">
+            <Name lang="en">4-aminobutyrate aminotransferase</Name>
+            <Symbol>ABAT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">4-aminobutyrate transaminase</Synonym>
+              <Synonym lang="en">GABA transaminase</Synonym>
+              <Synonym lang="en">GABA-T</Synonym>
+              <Synonym lang="en">GABAT</Synonym>
+              <Synonym lang="en">gamma-aminobutyrate aminotransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58663">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183044</Reference>
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+              <ExternalReference id="24650">
+                <Source>Genatlas</Source>
+                <Reference>ABAT</Reference>
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+              <ExternalReference id="24652">
+                <Source>HGNC</Source>
+                <Reference>23</Reference>
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+              <ExternalReference id="82724">
+                <Source>IUPHAR</Source>
+                <Reference>2464</Reference>
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+              <ExternalReference id="24651">
+                <Source>OMIM</Source>
+                <Reference>137150</Reference>
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+              <ExternalReference id="58664">
+                <Source>Reactome</Source>
+                <Reference>P80404</Reference>
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+              <ExternalReference id="32325">
+                <Source>SwissProt</Source>
+                <Reference>P80404</Reference>
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+            <LocusList count="1">
+              <Locus id="6673">
+                <GeneLocus>16p13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3578">
+      <OrphaCode>300</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300</ExpertLink>
+      <Name lang="en">Bifunctional enzyme deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>9915948[PMID]_24553428[PMID]_25967389[PMID]</SourceOfValidation>
+          <Gene id="16225">
+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 4</Name>
+            <Symbol>HSD17B4</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">17-beta-HSD IV</Synonym>
+              <Synonym lang="en">17-beta-hydroxysteroid dehydrogenase 4</Synonym>
+              <Synonym lang="en">17beta-estradiol dehydrogenase type IV</Synonym>
+              <Synonym lang="en">3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase</Synonym>
+              <Synonym lang="en">D-3-hydroxyacyl-CoA dehydratase</Synonym>
+              <Synonym lang="en">D-bifunctional protein, peroxisomal</Synonym>
+              <Synonym lang="en">DBP</Synonym>
+              <Synonym lang="en">MFE-2</Synonym>
+              <Synonym lang="en">SDR8C1</Synonym>
+              <Synonym lang="en">beta-hydroxyacyl dehydrogenase</Synonym>
+              <Synonym lang="en">beta-keto-reductase</Synonym>
+              <Synonym lang="en">peroxisomal multifunctional protein 2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 8C, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57010">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133835</Reference>
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+              <ExternalReference id="37158">
+                <Source>Genatlas</Source>
+                <Reference>HSD17B4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5213</Reference>
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+                <Reference>601860</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51659</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51659</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9501266[PMID]</SourceOfValidation>
+          <Gene id="17357">
+            <Name lang="en">enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100317">
+                <Source>Reactome</Source>
+                <Reference>Q08426</Reference>
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+              <ExternalReference id="59091">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113790</Reference>
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+              <ExternalReference id="37004">
+                <Source>Genatlas</Source>
+                <Reference>EHHADH</Reference>
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+              <ExternalReference id="37005">
+                <Source>HGNC</Source>
+                <Reference>3247</Reference>
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+              <ExternalReference id="37006">
+                <Source>OMIM</Source>
+                <Reference>607037</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q08426</Reference>
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+                <GeneLocus>3q27.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=213711</ExpertLink>
+      <Name lang="en">Endometrial stromal sarcoma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25299308[PMID]_22223660[PMID]</SourceOfValidation>
+          <Gene id="20276">
+            <Name lang="en">tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon</Name>
+            <Symbol>YWHAE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">14-3-3 epsilon</Synonym>
+              <Synonym lang="en">FLJ45465</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108953</Reference>
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+              <ExternalReference id="52130">
+                <Source>Genatlas</Source>
+                <Reference>YWHAE</Reference>
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+              <ExternalReference id="52128">
+                <Source>HGNC</Source>
+                <Reference>12851</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605066</Reference>
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+              <ExternalReference id="60341">
+                <Source>Reactome</Source>
+                <Reference>P62258</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P62258</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25299308[PMID]</SourceOfValidation>
+          <Gene id="22393">
+            <Name lang="en">JAZF zinc finger 1</Name>
+            <Symbol>JAZF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp761K2222</Synonym>
+              <Synonym lang="en">TIP27</Synonym>
+              <Synonym lang="en">ZNF802</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>28917</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606246</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86VZ6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153814</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>JAZF1</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25299308[PMID]</SourceOfValidation>
+          <Gene id="23226">
+            <Name lang="en">SUZ12 polycomb repressive complex 2 subunit</Name>
+            <Symbol>SUZ12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHET9</Synonym>
+              <Synonym lang="en">JJAZ1</Synonym>
+              <Synonym lang="en">KIAA0160</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95654">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178691</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SUZ12</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17101</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606245</Reference>
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+              <ExternalReference id="95653">
+                <Source>Reactome</Source>
+                <Reference>Q15022</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15022</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25299308[PMID]_22223660[PMID]</SourceOfValidation>
+          <Gene id="23227">
+            <Name lang="en">NUT family member 2A</Name>
+            <Symbol>NUTM2A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184923</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FAM22A</Reference>
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+                <Reference>23438</Reference>
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+                <Reference>Q8IVF1</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25299308[PMID]_22223660[PMID]</SourceOfValidation>
+          <Gene id="23228">
+            <Name lang="en">NUT family member 2B</Name>
+            <Symbol>NUTM2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">bA119F19.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>FAM22B</Reference>
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+                <Reference>23445</Reference>
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+                <Reference>A6NNL0</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+    <Disorder id="3469">
+      <OrphaCode>1572</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1572</ExpertLink>
+      <Name lang="en">Common variable immunodeficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="13">
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+          <SourceOfValidation/>
+          <Gene id="15412">
+            <Name lang="en">CD19 molecule</Name>
+            <Symbol>CD19</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2764</Reference>
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+              <ExternalReference id="59270">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177455</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107265</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P15391</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="16238">
+            <Name lang="en">inducible T cell costimulator</Name>
+            <Symbol>ICOS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AILIM</Synonym>
+              <Synonym lang="en">CD278</Synonym>
+              <Synonym lang="en">activation-inducible lymphocyte immunomediatory molecule</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163600</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>5351</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q9Y6W8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22035880[PMID]</SourceOfValidation>
+          <Gene id="17458">
+            <Name lang="en">complement C3d receptor 2</Name>
+            <Symbol>CR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C3DR</Synonym>
+              <Synonym lang="en">CD21</Synonym>
+              <Synonym lang="en">Epstein-Barr virus receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P20023</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P20023</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="19194">
+            <Name lang="en">TNF receptor superfamily member 13C</Name>
+            <Symbol>TNFRSF13C</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159958</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156738</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>NFKB2</Reference>
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+              <ExternalReference id="82511">
+                <Source>HGNC</Source>
+                <Reference>7795</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164012</Reference>
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+              <ExternalReference id="84081">
+                <Source>Reactome</Source>
+                <Reference>Q00653</Reference>
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+              <ExternalReference id="82514">
+                <Source>SwissProt</Source>
+                <Reference>Q00653</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27016798[PMID]</SourceOfValidation>
+          <Gene id="28136">
+            <Name lang="en">interferon regulatory factor 2 binding protein 2</Name>
+            <Symbol>IRF2BP2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IRF-2BP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
+                <Reference>21729</Reference>
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+              <ExternalReference id="163434">
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+                <Reference>ENSG00000168264</Reference>
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+              <ExternalReference id="163435">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z5L9</Reference>
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+              <ExternalReference id="163436">
+                <Source>Reactome</Source>
+                <Reference>Q7Z5L9</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615332</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16007086[PMID]</SourceOfValidation>
+          <Gene id="15635">
+            <Name lang="en">TNF receptor superfamily member 13B</Name>
+            <Symbol>TNFRSF13B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD267</Synonym>
+              <Synonym lang="en">IGAD2</Synonym>
+              <Synonym lang="en">TACI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193641">
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+                <Reference>1885</Reference>
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+              <ExternalReference id="97190">
+                <Source>Reactome</Source>
+                <Reference>O14836</Reference>
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+              <ExternalReference id="32607">
+                <Source>SwissProt</Source>
+                <Reference>O14836</Reference>
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+              <ExternalReference id="59213">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000240505</Reference>
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+              <ExternalReference id="27475">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF13B</Reference>
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+              <ExternalReference id="27473">
+                <Source>HGNC</Source>
+                <Reference>18153</Reference>
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+              <ExternalReference id="27472">
+                <Source>OMIM</Source>
+                <Reference>604907</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3468">
+      <OrphaCode>3261</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3261</ExpertLink>
+      <Name lang="en">Autoimmune lymphoproliferative syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301287[PMID]_10412980[PMID]_17999750[PMID]</SourceOfValidation>
+          <Gene id="15399">
+            <Name lang="en">caspase 10</Name>
+            <Symbol>CASP10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAS-associated death domain protein interleukin-1B-converting enzyme 2</Synonym>
+              <Synonym lang="en">FLICE-2</Synonym>
+              <Synonym lang="en">MCH4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58614">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000003400</Reference>
+              </ExternalReference>
+              <ExternalReference id="26332">
+                <Source>Genatlas</Source>
+                <Reference>CASP10</Reference>
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+              <ExternalReference id="26334">
+                <Source>HGNC</Source>
+                <Reference>1500</Reference>
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+              <ExternalReference id="82803">
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+                <Reference>1626</Reference>
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+              <ExternalReference id="26333">
+                <Source>OMIM</Source>
+                <Reference>601762</Reference>
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+              <ExternalReference id="58615">
+                <Source>Reactome</Source>
+                <Reference>Q92851</Reference>
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+              <ExternalReference id="32367">
+                <Source>SwissProt</Source>
+                <Reference>Q92851</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22983577[PMID]_21885602[PMID]_20301287[PMID]</SourceOfValidation>
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+            <Name lang="en">Fas cell surface death receptor</Name>
+            <Symbol>FAS</Symbol>
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+              <Synonym lang="en">APO-1</Synonym>
+              <Synonym lang="en">CD95</Synonym>
+              <Synonym lang="en">TNF receptor superfamily member 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000026103</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11920</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134637</Reference>
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+              <ExternalReference id="58619">
+                <Source>Reactome</Source>
+                <Reference>P25445</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P25445</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22983577[PMID]_21885602[PMID]_20301287[PMID]</SourceOfValidation>
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+            <Name lang="en">Fas cell surface death receptor</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000026103</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autoimmune pulmonary alveolar proteinosis</Name>
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+      <Name lang="en">Musculocontractural Ehlers-Danlos syndrome</Name>
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+              <Synonym lang="en">HD4ST</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58622">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169105</Reference>
+              </ExternalReference>
+              <ExternalReference id="44988">
+                <Source>Genatlas</Source>
+                <Reference>CHST14</Reference>
+              </ExternalReference>
+              <ExternalReference id="44989">
+                <Source>HGNC</Source>
+                <Reference>24464</Reference>
+              </ExternalReference>
+              <ExternalReference id="44990">
+                <Source>OMIM</Source>
+                <Reference>608429</Reference>
+              </ExternalReference>
+              <ExternalReference id="83172">
+                <Source>Reactome</Source>
+                <Reference>Q8NCH0</Reference>
+              </ExternalReference>
+              <ExternalReference id="44991">
+                <Source>SwissProt</Source>
+                <Reference>Q8NCH0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11011">
+                <GeneLocus>15q15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23704329[PMID]</SourceOfValidation>
+          <Gene id="22245">
+            <Name lang="en">dermatan sulfate epimerase</Name>
+            <Symbol>DSE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DS-Epi1</Synonym>
+              <Synonym lang="en">DSEPI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111817</Reference>
+              </ExternalReference>
+              <ExternalReference id="80585">
+                <Source>Genatlas</Source>
+                <Reference>DSE</Reference>
+              </ExternalReference>
+              <ExternalReference id="80583">
+                <Source>HGNC</Source>
+                <Reference>21144</Reference>
+              </ExternalReference>
+              <ExternalReference id="80584">
+                <Source>OMIM</Source>
+                <Reference>605942</Reference>
+              </ExternalReference>
+              <ExternalReference id="83928">
+                <Source>Reactome</Source>
+                <Reference>Q9UL01</Reference>
+              </ExternalReference>
+              <ExternalReference id="80586">
+                <Source>SwissProt</Source>
+                <Reference>Q9UL01</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25279">
+                <GeneLocus>6q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3485">
+      <OrphaCode>782</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=782</ExpertLink>
+      <Name lang="en">Axenfeld-Rieger syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19513095[PMID]</SourceOfValidation>
+          <Gene id="15096">
+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ARP1</Synonym>
+              <Synonym lang="en">Brx1</Synonym>
+              <Synonym lang="en">IGDS</Synonym>
+              <Synonym lang="en">Otlx2</Synonym>
+              <Synonym lang="en">RS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58301">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164093</Reference>
+              </ExternalReference>
+              <ExternalReference id="24889">
+                <Source>Genatlas</Source>
+                <Reference>PITX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24887">
+                <Source>HGNC</Source>
+                <Reference>9005</Reference>
+              </ExternalReference>
+              <ExternalReference id="24886">
+                <Source>OMIM</Source>
+                <Reference>601542</Reference>
+              </ExternalReference>
+              <ExternalReference id="32787">
+                <Source>SwissProt</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+              <ExternalReference id="126310">
+                <Source>Reactome</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26605">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19513095[PMID]</SourceOfValidation>
+          <Gene id="15096">
+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ARP1</Synonym>
+              <Synonym lang="en">Brx1</Synonym>
+              <Synonym lang="en">IGDS</Synonym>
+              <Synonym lang="en">Otlx2</Synonym>
+              <Synonym lang="en">RS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58301">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164093</Reference>
+              </ExternalReference>
+              <ExternalReference id="24889">
+                <Source>Genatlas</Source>
+                <Reference>PITX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24887">
+                <Source>HGNC</Source>
+                <Reference>9005</Reference>
+              </ExternalReference>
+              <ExternalReference id="24886">
+                <Source>OMIM</Source>
+                <Reference>601542</Reference>
+              </ExternalReference>
+              <ExternalReference id="32787">
+                <Source>SwissProt</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+              <ExternalReference id="126310">
+                <Source>Reactome</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26605">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19513095[PMID]</SourceOfValidation>
+          <Gene id="16064">
+            <Name lang="en">forkhead box C1</Name>
+            <Symbol>FOXC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARA</Synonym>
+              <Synonym lang="en">FREAC3</Synonym>
+              <Synonym lang="en">IGDA</Synonym>
+              <Synonym lang="en">IHG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="29534">
+                <Source>OMIM</Source>
+                <Reference>601090</Reference>
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+              <ExternalReference id="33079">
+                <Source>SwissProt</Source>
+                <Reference>Q12948</Reference>
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+              <ExternalReference id="58298">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054598</Reference>
+              </ExternalReference>
+              <ExternalReference id="29533">
+                <Source>Genatlas</Source>
+                <Reference>FOXC1</Reference>
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+              <ExternalReference id="29535">
+                <Source>HGNC</Source>
+                <Reference>3800</Reference>
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+              <ExternalReference id="143482">
+                <Source>Reactome</Source>
+                <Reference>Q12948</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6p25.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18789">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216718</ExpertLink>
+      <Name lang="en">Isolated congenitally uncorrected transposition of the great arteries</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23427188[PMID]</SourceOfValidation>
+          <Gene id="15745">
+            <Name lang="en">Zic family member 3</Name>
+            <Symbol>ZIC3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HTX</Synonym>
+              <Synonym lang="en">ZNF203</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60102">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156925</Reference>
+              </ExternalReference>
+              <ExternalReference id="27985">
+                <Source>Genatlas</Source>
+                <Reference>ZIC3</Reference>
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+              <ExternalReference id="27987">
+                <Source>HGNC</Source>
+                <Reference>12874</Reference>
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+              <ExternalReference id="27986">
+                <Source>OMIM</Source>
+                <Reference>300265</Reference>
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+              <ExternalReference id="87973">
+                <Source>Reactome</Source>
+                <Reference>O60481</Reference>
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+              <ExternalReference id="32717">
+                <Source>SwissProt</Source>
+                <Reference>O60481</Reference>
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+              <Locus id="23297">
+                <GeneLocus>Xq26.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17681">
+            <Name lang="en">growth differentiation factor 1</Name>
+            <Symbol>GDF1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="38903">
+                <Source>SwissProt</Source>
+                <Reference>P27539</Reference>
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+              <ExternalReference id="57704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130283</Reference>
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+              <ExternalReference id="38900">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4214</Reference>
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+              <ExternalReference id="38902">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57705">
+                <Source>Reactome</Source>
+                <Reference>P27539</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17336">
+            <Name lang="en">mediator complex subunit 13L</Name>
+            <Symbol>MED13L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1025</Synonym>
+              <Synonym lang="en">TRAP240L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123066</Reference>
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+              <ExternalReference id="36876">
+                <Source>Genatlas</Source>
+                <Reference>MED13L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>22962</Reference>
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+              <ExternalReference id="36877">
+                <Source>OMIM</Source>
+                <Reference>608771</Reference>
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+              <ExternalReference id="58613">
+                <Source>Reactome</Source>
+                <Reference>Q71F56</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q71F56</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11799476[PMID]</SourceOfValidation>
+          <Gene id="15436">
+            <Name lang="en">cripto, FRL-1, cryptic family 1</Name>
+            <Symbol>CFC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRYPTIC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136698</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="26510">
+                <Source>HGNC</Source>
+                <Reference>18292</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605194</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P0CG37</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0CG37</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Congenitally uncorrected transposition of the great arteries with cardiac malformation</Name>
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+            <Name lang="en">cripto, FRL-1, cryptic family 1</Name>
+            <Symbol>CFC1</Symbol>
+            <SynonymList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57926">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136698</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>18292</Reference>
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+              <ExternalReference id="26509">
+                <Source>OMIM</Source>
+                <Reference>605194</Reference>
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+              <ExternalReference id="82661">
+                <Source>Reactome</Source>
+                <Reference>P0CG37</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0CG37</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=882</ExpertLink>
+      <Name lang="en">Tyrosinemia type 1</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301688[PMID]</SourceOfValidation>
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+            <Name lang="en">fumarylacetoacetate hydrolase</Name>
+            <Symbol>FAH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">fumarylacetoacetase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103876</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FAH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3579</Reference>
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+              <ExternalReference id="51393">
+                <Source>OMIM</Source>
+                <Reference>613871</Reference>
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+              <ExternalReference id="58624">
+                <Source>Reactome</Source>
+                <Reference>P16930</Reference>
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+              <ExternalReference id="33032">
+                <Source>SwissProt</Source>
+                <Reference>P16930</Reference>
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+              <Locus id="8483">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18791">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216796</ExpertLink>
+      <Name lang="en">Osteogenesis imperfecta type 1</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30913006[PMID]_30948499[PMID]</SourceOfValidation>
+          <Gene id="23211">
+            <Name lang="en">prolyl 4-hydroxylase subunit beta</Name>
+            <Symbol>P4HB</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DSI</Synonym>
+              <Synonym lang="en">GIT</Synonym>
+              <Synonym lang="en">P4Hbeta</Synonym>
+              <Synonym lang="en">PDI</Synonym>
+              <Synonym lang="en">PDIA1</Synonym>
+              <Synonym lang="en">PO4HB</Synonym>
+              <Synonym lang="en">PROHB</Synonym>
+              <Synonym lang="en">collagen prolyl 4-hydroxylase beta</Synonym>
+              <Synonym lang="en">protein disulfide isomerase family A, member 1</Synonym>
+              <Synonym lang="en">protein disulfide isomerase-associated 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95487">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185624</Reference>
+              </ExternalReference>
+              <ExternalReference id="95485">
+                <Source>Genatlas</Source>
+                <Reference>P4HB</Reference>
+              </ExternalReference>
+              <ExternalReference id="95483">
+                <Source>HGNC</Source>
+                <Reference>8548</Reference>
+              </ExternalReference>
+              <ExternalReference id="95484">
+                <Source>OMIM</Source>
+                <Reference>176790</Reference>
+              </ExternalReference>
+              <ExternalReference id="95488">
+                <Source>Reactome</Source>
+                <Reference>P07237</Reference>
+              </ExternalReference>
+              <ExternalReference id="95486">
+                <Source>SwissProt</Source>
+                <Reference>P07237</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22629">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25683121[PMID]</SourceOfValidation>
+          <Gene id="23212">
+            <Name lang="en">SEC24 homolog D, COPII coat complex component</Name>
+            <Symbol>SEC24D</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0755</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95496">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150961</Reference>
+              </ExternalReference>
+              <ExternalReference id="95493">
+                <Source>Genatlas</Source>
+                <Reference>SEC24D</Reference>
+              </ExternalReference>
+              <ExternalReference id="95491">
+                <Source>HGNC</Source>
+                <Reference>10706</Reference>
+              </ExternalReference>
+              <ExternalReference id="95492">
+                <Source>OMIM</Source>
+                <Reference>607186</Reference>
+              </ExternalReference>
+              <ExternalReference id="95495">
+                <Source>Reactome</Source>
+                <Reference>O94855</Reference>
+              </ExternalReference>
+              <ExternalReference id="95494">
+                <Source>SwissProt</Source>
+                <Reference>O94855</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15011">
+                <GeneLocus>4q26</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28094">
+                <Source>OMIM</Source>
+                <Reference>120160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
+              </ExternalReference>
+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28095">
+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8013">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27380894[PMID]</SourceOfValidation>
+          <Gene id="18365">
+            <Name lang="en">membrane bound transcription factor peptidase, site 2</Name>
+            <Symbol>MBTPS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S2P</Synonym>
+              <Synonym lang="en">site-2 protease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012174</Reference>
+              </ExternalReference>
+              <ExternalReference id="41779">
+                <Source>Genatlas</Source>
+                <Reference>MBTPS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="41780">
+                <Source>HGNC</Source>
+                <Reference>15455</Reference>
+              </ExternalReference>
+              <ExternalReference id="41781">
+                <Source>OMIM</Source>
+                <Reference>300294</Reference>
+              </ExternalReference>
+              <ExternalReference id="58173">
+                <Source>Reactome</Source>
+                <Reference>O43462</Reference>
+              </ExternalReference>
+              <ExternalReference id="43768">
+                <Source>SwissProt</Source>
+                <Reference>O43462</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22637">
+                <GeneLocus>Xp22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18792">
+      <OrphaCode>216804</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216804</ExpertLink>
+      <Name lang="en">Osteogenesis imperfecta type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28094">
+                <Source>OMIM</Source>
+                <Reference>120160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
+              </ExternalReference>
+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28095">
+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8013">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="16837">
+            <Name lang="en">prolyl 3-hydroxylase 1</Name>
+            <Symbol>P3H1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GROS1</Synonym>
+              <Synonym lang="en">LEPRECAN</Synonym>
+              <Synonym lang="en">MGC117314</Synonym>
+              <Synonym lang="en">growth suppressor 1</Synonym>
+              <Synonym lang="en">procollagen-proline 3-dioxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60318">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117385</Reference>
+              </ExternalReference>
+              <ExternalReference id="35190">
+                <Source>Genatlas</Source>
+                <Reference>LEPRE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35191">
+                <Source>HGNC</Source>
+                <Reference>19316</Reference>
+              </ExternalReference>
+              <ExternalReference id="35192">
+                <Source>OMIM</Source>
+                <Reference>610339</Reference>
+              </ExternalReference>
+              <ExternalReference id="83039">
+                <Source>Reactome</Source>
+                <Reference>Q32P28</Reference>
+              </ExternalReference>
+              <ExternalReference id="35193">
+                <Source>SwissProt</Source>
+                <Reference>Q32P28</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20929">
+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="16838">
+            <Name lang="en">cartilage associated protein</Name>
+            <Symbol>CRTAP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CASP</Synonym>
+              <Synonym lang="en">LEPREL3</Synonym>
+              <Synonym lang="en">P3H5</Synonym>
+              <Synonym lang="en">leprecan-like 3</Synonym>
+              <Synonym lang="en">prolyl 3-hydroxylase family member 5 (non-enzymatic)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60317">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170275</Reference>
+              </ExternalReference>
+              <ExternalReference id="35195">
+                <Source>Genatlas</Source>
+                <Reference>CRTAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35196">
+                <Source>HGNC</Source>
+                <Reference>2379</Reference>
+              </ExternalReference>
+              <ExternalReference id="35197">
+                <Source>OMIM</Source>
+                <Reference>605497</Reference>
+              </ExternalReference>
+              <ExternalReference id="83040">
+                <Source>Reactome</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+              <ExternalReference id="36900">
+                <Source>SwissProt</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21409">
+                <GeneLocus>3p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="18826">
+            <Name lang="en">peptidylprolyl isomerase B</Name>
+            <Symbol>PPIB</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B</Synonym>
+              <Synonym lang="en">CYP-S1</Synonym>
+              <Synonym lang="en">CYPB</Synonym>
+              <Synonym lang="en">OI9</Synonym>
+              <Synonym lang="en">PPIase</Synonym>
+              <Synonym lang="en">S-cyclophilin</Synonym>
+              <Synonym lang="en">SCYLP</Synonym>
+              <Synonym lang="en">cyclophilin B</Synonym>
+              <Synonym lang="en">peptidyl-prolyl cis-trans isomerase B</Synonym>
+              <Synonym lang="en">rotamase B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="43604">
+                <Source>SwissProt</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+              <ExternalReference id="60319">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166794</Reference>
+              </ExternalReference>
+              <ExternalReference id="43601">
+                <Source>Genatlas</Source>
+                <Reference>PPIB</Reference>
+              </ExternalReference>
+              <ExternalReference id="43602">
+                <Source>HGNC</Source>
+                <Reference>9255</Reference>
+              </ExternalReference>
+              <ExternalReference id="43603">
+                <Source>OMIM</Source>
+                <Reference>123841</Reference>
+              </ExternalReference>
+              <ExternalReference id="83159">
+                <Source>Reactome</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26089">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33596325[PMID]_31564437[PMID]</SourceOfValidation>
+          <Gene id="29906">
+            <Name lang="en">mesoderm development LRP chaperone</Name>
+            <Symbol>MESD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BOCA</Synonym>
+              <Synonym lang="en">KIAA0081</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="193447">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117899</Reference>
+              </ExternalReference>
+              <ExternalReference id="189485">
+                <Source>HGNC</Source>
+                <Reference>13520</Reference>
+              </ExternalReference>
+              <ExternalReference id="201566">
+                <Source>SwissProt</Source>
+                <Reference>Q14696</Reference>
+              </ExternalReference>
+              <ExternalReference id="193448">
+                <Source>OMIM</Source>
+                <Reference>607783</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="82107">
+                <GeneLocus>15q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18793">
+      <OrphaCode>216812</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216812</ExpertLink>
+      <Name lang="en">Osteogenesis imperfecta type 3</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="12">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28094">
+                <Source>OMIM</Source>
+                <Reference>120160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
+              </ExternalReference>
+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28095">
+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8013">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="16837">
+            <Name lang="en">prolyl 3-hydroxylase 1</Name>
+            <Symbol>P3H1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GROS1</Synonym>
+              <Synonym lang="en">LEPRECAN</Synonym>
+              <Synonym lang="en">MGC117314</Synonym>
+              <Synonym lang="en">growth suppressor 1</Synonym>
+              <Synonym lang="en">procollagen-proline 3-dioxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60318">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117385</Reference>
+              </ExternalReference>
+              <ExternalReference id="35190">
+                <Source>Genatlas</Source>
+                <Reference>LEPRE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35191">
+                <Source>HGNC</Source>
+                <Reference>19316</Reference>
+              </ExternalReference>
+              <ExternalReference id="35192">
+                <Source>OMIM</Source>
+                <Reference>610339</Reference>
+              </ExternalReference>
+              <ExternalReference id="83039">
+                <Source>Reactome</Source>
+                <Reference>Q32P28</Reference>
+              </ExternalReference>
+              <ExternalReference id="35193">
+                <Source>SwissProt</Source>
+                <Reference>Q32P28</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20929">
+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="16838">
+            <Name lang="en">cartilage associated protein</Name>
+            <Symbol>CRTAP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CASP</Synonym>
+              <Synonym lang="en">LEPREL3</Synonym>
+              <Synonym lang="en">P3H5</Synonym>
+              <Synonym lang="en">leprecan-like 3</Synonym>
+              <Synonym lang="en">prolyl 3-hydroxylase family member 5 (non-enzymatic)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60317">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170275</Reference>
+              </ExternalReference>
+              <ExternalReference id="35195">
+                <Source>Genatlas</Source>
+                <Reference>CRTAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35196">
+                <Source>HGNC</Source>
+                <Reference>2379</Reference>
+              </ExternalReference>
+              <ExternalReference id="35197">
+                <Source>OMIM</Source>
+                <Reference>605497</Reference>
+              </ExternalReference>
+              <ExternalReference id="83040">
+                <Source>Reactome</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+              <ExternalReference id="36900">
+                <Source>SwissProt</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21409">
+                <GeneLocus>3p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24079343[PMID]</SourceOfValidation>
+          <Gene id="18653">
+            <Name lang="en">cAMP responsive element binding protein 3 like 1</Name>
+            <Symbol>CREB3L1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BBF-2 homolog (drosophila)</Synonym>
+              <Synonym lang="en">OASIS</Synonym>
+              <Synonym lang="en">old astrocyte specifically induced substance</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143794">
+                <Source>Reactome</Source>
+                <Reference>Q96BA8</Reference>
+              </ExternalReference>
+              <ExternalReference id="59287">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157613</Reference>
+              </ExternalReference>
+              <ExternalReference id="43070">
+                <Source>Genatlas</Source>
+                <Reference>CREB3L1</Reference>
+              </ExternalReference>
+              <ExternalReference id="43071">
+                <Source>HGNC</Source>
+                <Reference>18856</Reference>
+              </ExternalReference>
+              <ExternalReference id="95231">
+                <Source>OMIM</Source>
+                <Reference>616215</Reference>
+              </ExternalReference>
+              <ExternalReference id="43072">
+                <Source>SwissProt</Source>
+                <Reference>Q96BA8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39051">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="18826">
+            <Name lang="en">peptidylprolyl isomerase B</Name>
+            <Symbol>PPIB</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B</Synonym>
+              <Synonym lang="en">CYP-S1</Synonym>
+              <Synonym lang="en">CYPB</Synonym>
+              <Synonym lang="en">OI9</Synonym>
+              <Synonym lang="en">PPIase</Synonym>
+              <Synonym lang="en">S-cyclophilin</Synonym>
+              <Synonym lang="en">SCYLP</Synonym>
+              <Synonym lang="en">cyclophilin B</Synonym>
+              <Synonym lang="en">peptidyl-prolyl cis-trans isomerase B</Synonym>
+              <Synonym lang="en">rotamase B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="43604">
+                <Source>SwissProt</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+              <ExternalReference id="60319">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166794</Reference>
+              </ExternalReference>
+              <ExternalReference id="43601">
+                <Source>Genatlas</Source>
+                <Reference>PPIB</Reference>
+              </ExternalReference>
+              <ExternalReference id="43602">
+                <Source>HGNC</Source>
+                <Reference>9255</Reference>
+              </ExternalReference>
+              <ExternalReference id="43603">
+                <Source>OMIM</Source>
+                <Reference>123841</Reference>
+              </ExternalReference>
+              <ExternalReference id="83159">
+                <Source>Reactome</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26089">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="19046">
+            <Name lang="en">serpin family H member 1</Name>
+            <Symbol>SERPINH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HSP47</Synonym>
+              <Synonym lang="en">collagen binding protein 1</Synonym>
+              <Synonym lang="en">colligen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60322">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149257</Reference>
+              </ExternalReference>
+              <ExternalReference id="45314">
+                <Source>Genatlas</Source>
+                <Reference>SERPINH1</Reference>
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+              <ExternalReference id="45315">
+                <Source>HGNC</Source>
+                <Reference>1546</Reference>
+              </ExternalReference>
+              <ExternalReference id="45316">
+                <Source>OMIM</Source>
+                <Reference>600943</Reference>
+              </ExternalReference>
+              <ExternalReference id="83174">
+                <Source>Reactome</Source>
+                <Reference>P50454</Reference>
+              </ExternalReference>
+              <ExternalReference id="45317">
+                <Source>SwissProt</Source>
+                <Reference>P50454</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11033">
+                <GeneLocus>11q13.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="19231">
+            <Name lang="en">FKBP prolyl isomerase 10</Name>
+            <Symbol>FKBP10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FKBP6</Synonym>
+              <Synonym lang="en">FKBP65</Synonym>
+              <Synonym lang="en">FLJ20683</Synonym>
+              <Synonym lang="en">FLJ22041</Synonym>
+              <Synonym lang="en">FLJ23833</Synonym>
+              <Synonym lang="en">hFKBP65</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="46579">
+                <Source>OMIM</Source>
+                <Reference>607063</Reference>
+              </ExternalReference>
+              <ExternalReference id="46578">
+                <Source>SwissProt</Source>
+                <Reference>Q96AY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="60325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141756</Reference>
+              </ExternalReference>
+              <ExternalReference id="46577">
+                <Source>Genatlas</Source>
+                <Reference>FKBP10</Reference>
+              </ExternalReference>
+              <ExternalReference id="46576">
+                <Source>HGNC</Source>
+                <Reference>18169</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11093">
+                <GeneLocus>17q21.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21353196[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="20140">
+            <Name lang="en">serpin family F member 1</Name>
+            <Symbol>SERPINF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EPC-1</Synonym>
+              <Synonym lang="en">PIG35</Synonym>
+              <Synonym lang="en">alpha-2 antiplasmin</Synonym>
+              <Synonym lang="en">pigment epithelium-derived factor</Synonym>
+              <Synonym lang="en">proliferation-inducing protein 35</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="51457">
+                <Source>Genatlas</Source>
+                <Reference>SERPINF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="51455">
+                <Source>HGNC</Source>
+                <Reference>8824</Reference>
+              </ExternalReference>
+              <ExternalReference id="51456">
+                <Source>OMIM</Source>
+                <Reference>172860</Reference>
+              </ExternalReference>
+              <ExternalReference id="82566">
+                <Source>SwissProt</Source>
+                <Reference>P36955</Reference>
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+              <ExternalReference id="60323">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132386</Reference>
+              </ExternalReference>
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+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23499310[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="22024">
+            <Name lang="en">Wnt family member 1</Name>
+            <Symbol>WNT1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125084</Reference>
+              </ExternalReference>
+              <ExternalReference id="78696">
+                <Source>Genatlas</Source>
+                <Reference>WNT1</Reference>
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+              <ExternalReference id="78694">
+                <Source>HGNC</Source>
+                <Reference>12774</Reference>
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+              <ExternalReference id="78695">
+                <Source>OMIM</Source>
+                <Reference>164820</Reference>
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+              <ExternalReference id="83771">
+                <Source>Reactome</Source>
+                <Reference>P04628</Reference>
+              </ExternalReference>
+              <ExternalReference id="78697">
+                <Source>SwissProt</Source>
+                <Reference>P04628</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>12q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29358272[PMID]</SourceOfValidation>
+          <Gene id="28830">
+            <Name lang="en">terminal nucleotidyltransferase 5A</Name>
+            <Symbol>TENT5A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20037</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>18345</Reference>
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+              <ExternalReference id="179972">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112773</Reference>
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+              <ExternalReference id="179973">
+                <Source>SwissProt</Source>
+                <Reference>Q96IP4</Reference>
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+              <ExternalReference id="179974">
+                <Source>Reactome</Source>
+                <Reference>Q96IP4</Reference>
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+              <ExternalReference id="179975">
+                <Source>OMIM</Source>
+                <Reference>611357</Reference>
+              </ExternalReference>
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+                <GeneLocus>6q14.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22052668[PMID]</SourceOfValidation>
+          <Gene id="20693">
+            <Name lang="en">bone morphogenetic protein 1</Name>
+            <Symbol>BMP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BMP-1</Synonym>
+              <Synonym lang="en">tolloid-like</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60320">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168487</Reference>
+              </ExternalReference>
+              <ExternalReference id="55082">
+                <Source>Genatlas</Source>
+                <Reference>BMP1</Reference>
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+              <ExternalReference id="55080">
+                <Source>HGNC</Source>
+                <Reference>1067</Reference>
+              </ExternalReference>
+              <ExternalReference id="83231">
+                <Source>IUPHAR</Source>
+                <Reference>2333</Reference>
+              </ExternalReference>
+              <ExternalReference id="55081">
+                <Source>OMIM</Source>
+                <Reference>112264</Reference>
+              </ExternalReference>
+              <ExternalReference id="60321">
+                <Source>Reactome</Source>
+                <Reference>P13497</Reference>
+              </ExternalReference>
+              <ExternalReference id="55083">
+                <Source>SwissProt</Source>
+                <Reference>P13497</Reference>
+              </ExternalReference>
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+                <GeneLocus>8p21.3</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    </Disorder>
+    <Disorder id="18794">
+      <OrphaCode>216820</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216820</ExpertLink>
+      <Name lang="en">Osteogenesis imperfecta type 4</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23313006[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="21983">
+            <Name lang="en">transmembrane protein 38B</Name>
+            <Symbol>TMEM38B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">D4Ertd89e</Synonym>
+              <Synonym lang="en">FLJ10493</Synonym>
+              <Synonym lang="en">TRIC-B</Synonym>
+              <Synonym lang="en">bA219P18.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="97366">
+                <Source>Genatlas</Source>
+                <Reference>TMEM38B</Reference>
+              </ExternalReference>
+              <ExternalReference id="78307">
+                <Source>HGNC</Source>
+                <Reference>25535</Reference>
+              </ExternalReference>
+              <ExternalReference id="78308">
+                <Source>OMIM</Source>
+                <Reference>611236</Reference>
+              </ExternalReference>
+              <ExternalReference id="78309">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVV0</Reference>
+              </ExternalReference>
+              <ExternalReference id="83737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095209</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20971">
+                <GeneLocus>9q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_20301472[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28094">
+                <Source>OMIM</Source>
+                <Reference>120160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
+              </ExternalReference>
+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28095">
+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8013">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="16838">
+            <Name lang="en">cartilage associated protein</Name>
+            <Symbol>CRTAP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CASP</Synonym>
+              <Synonym lang="en">LEPREL3</Synonym>
+              <Synonym lang="en">P3H5</Synonym>
+              <Synonym lang="en">leprecan-like 3</Synonym>
+              <Synonym lang="en">prolyl 3-hydroxylase family member 5 (non-enzymatic)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60317">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170275</Reference>
+              </ExternalReference>
+              <ExternalReference id="35195">
+                <Source>Genatlas</Source>
+                <Reference>CRTAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35196">
+                <Source>HGNC</Source>
+                <Reference>2379</Reference>
+              </ExternalReference>
+              <ExternalReference id="35197">
+                <Source>OMIM</Source>
+                <Reference>605497</Reference>
+              </ExternalReference>
+              <ExternalReference id="83040">
+                <Source>Reactome</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+              <ExternalReference id="36900">
+                <Source>SwissProt</Source>
+                <Reference>O75718</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21409">
+                <GeneLocus>3p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21282188[PMID]</SourceOfValidation>
+          <Gene id="18826">
+            <Name lang="en">peptidylprolyl isomerase B</Name>
+            <Symbol>PPIB</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B</Synonym>
+              <Synonym lang="en">CYP-S1</Synonym>
+              <Synonym lang="en">CYPB</Synonym>
+              <Synonym lang="en">OI9</Synonym>
+              <Synonym lang="en">PPIase</Synonym>
+              <Synonym lang="en">S-cyclophilin</Synonym>
+              <Synonym lang="en">SCYLP</Synonym>
+              <Synonym lang="en">cyclophilin B</Synonym>
+              <Synonym lang="en">peptidyl-prolyl cis-trans isomerase B</Synonym>
+              <Synonym lang="en">rotamase B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="43604">
+                <Source>SwissProt</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+              <ExternalReference id="60319">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166794</Reference>
+              </ExternalReference>
+              <ExternalReference id="43601">
+                <Source>Genatlas</Source>
+                <Reference>PPIB</Reference>
+              </ExternalReference>
+              <ExternalReference id="43602">
+                <Source>HGNC</Source>
+                <Reference>9255</Reference>
+              </ExternalReference>
+              <ExternalReference id="43603">
+                <Source>OMIM</Source>
+                <Reference>123841</Reference>
+              </ExternalReference>
+              <ExternalReference id="83159">
+                <Source>Reactome</Source>
+                <Reference>P23284</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26089">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="19231">
+            <Name lang="en">FKBP prolyl isomerase 10</Name>
+            <Symbol>FKBP10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FKBP6</Synonym>
+              <Synonym lang="en">FKBP65</Synonym>
+              <Synonym lang="en">FLJ20683</Synonym>
+              <Synonym lang="en">FLJ22041</Synonym>
+              <Synonym lang="en">FLJ23833</Synonym>
+              <Synonym lang="en">hFKBP65</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="46579">
+                <Source>OMIM</Source>
+                <Reference>607063</Reference>
+              </ExternalReference>
+              <ExternalReference id="46578">
+                <Source>SwissProt</Source>
+                <Reference>Q96AY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="60325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141756</Reference>
+              </ExternalReference>
+              <ExternalReference id="46577">
+                <Source>Genatlas</Source>
+                <Reference>FKBP10</Reference>
+              </ExternalReference>
+              <ExternalReference id="46576">
+                <Source>HGNC</Source>
+                <Reference>18169</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11093">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21438135[PMID]</SourceOfValidation>
+          <Gene id="19253">
+            <Name lang="en">Sp7 transcription factor</Name>
+            <Symbol>SP7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">OSX</Synonym>
+              <Synonym lang="en">osterix</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60324">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170374</Reference>
+              </ExternalReference>
+              <ExternalReference id="46857">
+                <Source>Genatlas</Source>
+                <Reference>SP7</Reference>
+              </ExternalReference>
+              <ExternalReference id="46856">
+                <Source>HGNC</Source>
+                <Reference>17321</Reference>
+              </ExternalReference>
+              <ExternalReference id="46858">
+                <Source>OMIM</Source>
+                <Reference>606633</Reference>
+              </ExternalReference>
+              <ExternalReference id="46859">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="143406">
+                <Source>Reactome</Source>
+                <Reference>Q8TDD2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38515">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25046257[PMID]</SourceOfValidation>
+          <Gene id="20140">
+            <Name lang="en">serpin family F member 1</Name>
+            <Symbol>SERPINF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EPC-1</Synonym>
+              <Synonym lang="en">PIG35</Synonym>
+              <Synonym lang="en">alpha-2 antiplasmin</Synonym>
+              <Synonym lang="en">pigment epithelium-derived factor</Synonym>
+              <Synonym lang="en">proliferation-inducing protein 35</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="51457">
+                <Source>Genatlas</Source>
+                <Reference>SERPINF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="51455">
+                <Source>HGNC</Source>
+                <Reference>8824</Reference>
+              </ExternalReference>
+              <ExternalReference id="51456">
+                <Source>OMIM</Source>
+                <Reference>172860</Reference>
+              </ExternalReference>
+              <ExternalReference id="82566">
+                <Source>SwissProt</Source>
+                <Reference>P36955</Reference>
+              </ExternalReference>
+              <ExternalReference id="60323">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132386</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11417">
+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23434763[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="22024">
+            <Name lang="en">Wnt family member 1</Name>
+            <Symbol>WNT1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125084</Reference>
+              </ExternalReference>
+              <ExternalReference id="78696">
+                <Source>Genatlas</Source>
+                <Reference>WNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="78694">
+                <Source>HGNC</Source>
+                <Reference>12774</Reference>
+              </ExternalReference>
+              <ExternalReference id="78695">
+                <Source>OMIM</Source>
+                <Reference>164820</Reference>
+              </ExternalReference>
+              <ExternalReference id="83771">
+                <Source>Reactome</Source>
+                <Reference>P04628</Reference>
+              </ExternalReference>
+              <ExternalReference id="78697">
+                <Source>SwissProt</Source>
+                <Reference>P04628</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15883">
+                <GeneLocus>12q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26027498[PMID]</SourceOfValidation>
+          <Gene id="23287">
+            <Name lang="en">secreted protein acidic and cysteine rich</Name>
+            <Symbol>SPARC</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BM-40</Synonym>
+              <Synonym lang="en">ONT</Synonym>
+              <Synonym lang="en">cysteine-rich protein</Synonym>
+              <Synonym lang="en">secreted protein acidic and rich in cysteine</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="96040">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113140</Reference>
+              </ExternalReference>
+              <ExternalReference id="96037">
+                <Source>Genatlas</Source>
+                <Reference>SPARC</Reference>
+              </ExternalReference>
+              <ExternalReference id="96035">
+                <Source>HGNC</Source>
+                <Reference>11219</Reference>
+              </ExternalReference>
+              <ExternalReference id="96036">
+                <Source>OMIM</Source>
+                <Reference>182120</Reference>
+              </ExternalReference>
+              <ExternalReference id="96039">
+                <Source>Reactome</Source>
+                <Reference>P09486</Reference>
+              </ExternalReference>
+              <ExternalReference id="96038">
+                <Source>SwissProt</Source>
+                <Reference>P09486</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21919">
+                <GeneLocus>5q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18795">
+      <OrphaCode>216828</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216828</ExpertLink>
+      <Name lang="en">Osteogenesis imperfecta type 5</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22863190[PMID]_22863195[PMID]_25046257[PMID]</SourceOfValidation>
+          <Gene id="21297">
+            <Name lang="en">interferon induced transmembrane protein 5</Name>
+            <Symbol>IFITM5</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BRIL</Synonym>
+              <Synonym lang="en">DSPA1</Synonym>
+              <Synonym lang="en">Fragilis4</Synonym>
+              <Synonym lang="en">Hrmp1</Synonym>
+              <Synonym lang="en">dispanin subfamily A member 1</Synonym>
+              <Synonym lang="en">fragilis4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206013</Reference>
+              </ExternalReference>
+              <ExternalReference id="70634">
+                <Source>Genatlas</Source>
+                <Reference>IFITM5</Reference>
+              </ExternalReference>
+              <ExternalReference id="70632">
+                <Source>HGNC</Source>
+                <Reference>16644</Reference>
+              </ExternalReference>
+              <ExternalReference id="70633">
+                <Source>OMIM</Source>
+                <Reference>614757</Reference>
+              </ExternalReference>
+              <ExternalReference id="70635">
+                <Source>SwissProt</Source>
+                <Reference>A6NNB3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12075">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3498">
+      <OrphaCode>3474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3474</ExpertLink>
+      <Name lang="en">CHIME syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class L</Name>
+            <Symbol>PIGL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">N-acetylglucosaminylphosphatidylinositol deacetylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000108474</Reference>
+              </ExternalReference>
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+                <Reference>PIGL</Reference>
+              </ExternalReference>
+              <ExternalReference id="61871">
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+                <Reference>8966</Reference>
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+                <Reference>Q9Y2B2</Reference>
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+                <Reference>Q9Y2B2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=216866</ExpertLink>
+      <Name lang="en">Classic pantothenate kinase-associated neurodegeneration</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">pantothenate kinase 2</Name>
+            <Symbol>PANK2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FLJ11729</Synonym>
+              <Synonym lang="en">HARP</Synonym>
+              <Synonym lang="en">HSS</Synonym>
+              <Synonym lang="en">Hallervorden-Spatz syndrome</Synonym>
+              <Synonym lang="en">PKAN</Synonym>
+              <Synonym lang="en">pantothenate kinase-associated neurodegeneration</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9BZ23</Reference>
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+                <Reference>Q9BZ23</Reference>
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+                <Reference>ENSG00000125779</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Atypical pantothenate kinase-associated neurodegeneration</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+              <Synonym lang="en">HARP</Synonym>
+              <Synonym lang="en">HSS</Synonym>
+              <Synonym lang="en">Hallervorden-Spatz syndrome</Synonym>
+              <Synonym lang="en">PKAN</Synonym>
+              <Synonym lang="en">pantothenate kinase-associated neurodegeneration</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60327">
+                <Source>Reactome</Source>
+                <Reference>Q9BZ23</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZ23</Reference>
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+                <Reference>ENSG00000125779</Reference>
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+      <Name lang="en">Niemann-Pick disease type C, severe perinatal form</Name>
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+            <Symbol>NPC1</Symbol>
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+            <LocusList count="1">
+              <Locus id="21171">
+                <GeneLocus>20q13.2</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+      <OrphaCode>217266</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217266</ExpertLink>
+      <Name lang="en">BNAR syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19732862[PMID]_23401257[PMID]</SourceOfValidation>
+          <Gene id="18924">
+            <Name lang="en">FRAS1 related extracellular matrix 1</Name>
+            <Symbol>FREM1</Symbol>
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+              <Synonym lang="en">C9orf143</Synonym>
+              <Synonym lang="en">C9orf145</Synonym>
+              <Synonym lang="en">DKFZp686M16108</Synonym>
+              <Synonym lang="en">FLJ25461</Synonym>
+              <Synonym lang="en">TILRR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164946</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>23399</Reference>
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+                <Reference>608944</Reference>
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+                <Reference>Q5H8C1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Birdshot chorioretinopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">major histocompatibility complex, class I, A</Name>
+            <Symbol>HLA-A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P04439</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206503</Reference>
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+                <Reference>HLA-A</Reference>
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+                <Reference>P04439</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Classic mycosis fungoides</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">CD</Synonym>
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+              <Synonym lang="en">CTLA-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163599</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTLA4</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">TNF-R-II</Synonym>
+              <Synonym lang="en">TNF-R75</Synonym>
+              <Synonym lang="en">TNFBR</Synonym>
+              <Synonym lang="en">TNFR80</Synonym>
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+                <Source>Reactome</Source>
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+              <Locus id="21955">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3395">
+      <OrphaCode>1451</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1451</ExpertLink>
+      <Name lang="en">CINCA syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15801036[PMID]_12032915[PMID]</SourceOfValidation>
+          <Gene id="16553">
+            <Name lang="en">NLR family pyrin domain containing 3</Name>
+            <Symbol>NLRP3</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">AGTAVPRL</Synonym>
+              <Synonym lang="en">AII</Synonym>
+              <Synonym lang="en">AVP</Synonym>
+              <Synonym lang="en">CLR1.1</Synonym>
+              <Synonym lang="en">Cryopyrin</Synonym>
+              <Synonym lang="en">FCAS</Synonym>
+              <Synonym lang="en">FCU</Synonym>
+              <Synonym lang="en">MWS</Synonym>
+              <Synonym lang="en">NALP3</Synonym>
+              <Synonym lang="en">PYPAF1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162711</Reference>
+              </ExternalReference>
+              <ExternalReference id="36623">
+                <Source>Genatlas</Source>
+                <Reference>NLRP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31839">
+                <Source>HGNC</Source>
+                <Reference>16400</Reference>
+              </ExternalReference>
+              <ExternalReference id="31838">
+                <Source>OMIM</Source>
+                <Reference>606416</Reference>
+              </ExternalReference>
+              <ExternalReference id="58243">
+                <Source>Reactome</Source>
+                <Reference>Q96P20</Reference>
+              </ExternalReference>
+              <ExternalReference id="33618">
+                <Source>SwissProt</Source>
+                <Reference>Q96P20</Reference>
+              </ExternalReference>
+              <ExternalReference id="190378">
+                <Source>IUPHAR</Source>
+                <Reference>1770</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q44</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18818">
+      <OrphaCode>217059</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217059</ExpertLink>
+      <Name lang="en">Isolated congenital digital clubbing</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18805827[PMID]</SourceOfValidation>
+          <Gene id="17727">
+            <Name lang="en">15-hydroxyprostaglandin dehydrogenase</Name>
+            <Symbol>HPGD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">15-hydroxyprostaglandin dehydrogenase (NAD(+))</Synonym>
+              <Synonym lang="en">SDR36C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 36C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="39258">
+                <Source>OMIM</Source>
+                <Reference>601688</Reference>
+              </ExternalReference>
+              <ExternalReference id="83114">
+                <Source>Reactome</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="39259">
+                <Source>SwissProt</Source>
+                <Reference>P15428</Reference>
+              </ExternalReference>
+              <ExternalReference id="58084">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164120</Reference>
+              </ExternalReference>
+              <ExternalReference id="39256">
+                <Source>Genatlas</Source>
+                <Reference>HPGD</Reference>
+              </ExternalReference>
+              <ExternalReference id="39257">
+                <Source>HGNC</Source>
+                <Reference>5154</Reference>
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+              <ExternalReference id="190362">
+                <Source>IUPHAR</Source>
+                <Reference>1384</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>4q34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="18817">
+      <OrphaCode>217055</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217055</ExpertLink>
+      <Name lang="en">Autosomal recessive intermediate Charcot-Marie-Tooth disease type A</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12566285[PMID]_12499475[PMID]</SourceOfValidation>
+          <Gene id="16113">
+            <Name lang="en">ganglioside induced differentiation associated protein 1</Name>
+            <Symbol>GDAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMT2K</Synonym>
+              <Synonym lang="en">CMT4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104381</Reference>
+              </ExternalReference>
+              <ExternalReference id="29772">
+                <Source>Genatlas</Source>
+                <Reference>GDAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29770">
+                <Source>HGNC</Source>
+                <Reference>15968</Reference>
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+              <ExternalReference id="29769">
+                <Source>OMIM</Source>
+                <Reference>606598</Reference>
+              </ExternalReference>
+              <ExternalReference id="33128">
+                <Source>SwissProt</Source>
+                <Reference>Q8TB36</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="23925">
+                <GeneLocus>8q21.11</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18846">
+      <OrphaCode>217335</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217335</ExpertLink>
+      <Name lang="en">RIN2 syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19631308[PMID]_24449201[PMID]</SourceOfValidation>
+          <Gene id="18925">
+            <Name lang="en">Ras and Rab interactor 2</Name>
+            <Symbol>RIN2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RASSF4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60338">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132669</Reference>
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+              <ExternalReference id="44073">
+                <Source>Genatlas</Source>
+                <Reference>RIN2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18750</Reference>
+              </ExternalReference>
+              <ExternalReference id="44075">
+                <Source>OMIM</Source>
+                <Reference>610222</Reference>
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+              <ExternalReference id="44076">
+                <Source>SwissProt</Source>
+                <Reference>Q8WYP3</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WYP3</Reference>
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+                <GeneLocus>20p11.23</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="3423">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2745</ExpertLink>
+      <Name lang="en">Opitz GBBB syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>15558842[PMID]</SourceOfValidation>
+          <Gene id="16398">
+            <Name lang="en">midline 1</Name>
+            <Symbol>MID1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FXY</Synonym>
+              <Synonym lang="en">OS</Synonym>
+              <Synonym lang="en">Opitz/BBB syndrome</Synonym>
+              <Synonym lang="en">RNF59</Synonym>
+              <Synonym lang="en">TRIM18</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101871</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7095</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300552</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15344</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15344</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="18845">
+      <OrphaCode>217330</OrphaCode>
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+      <Name lang="en">REN-related autosomal dominant tubulointerstitial kidney disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143839</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>REN</Reference>
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+                <Reference>9958</Reference>
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+                <Reference>2413</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Dementia with Lewy body</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">glucosylceramidase beta 1</Name>
+            <Symbol>GBA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GBA1</Synonym>
+              <Synonym lang="en">glucocerebrosidase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000177628</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GBA</Reference>
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+                <Reference>4177</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P04062</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">synuclein alpha</Name>
+            <Symbol>SNCA</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">&amp;#945;-synuclein</Synonym>
+              <Synonym lang="en">NACP</Synonym>
+              <Synonym lang="en">PD1</Synonym>
+              <Synonym lang="en">a-synuclein</Synonym>
+              <Synonym lang="en">alpha-synuclein</Synonym>
+              <Synonym lang="en">non A4 component of amyloid precursor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145335</Reference>
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+                <Reference>11138</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P37840</Reference>
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+                <Reference>P37840</Reference>
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+          <SourceOfValidation>24973356[PMID]</SourceOfValidation>
+          <Gene id="15940">
+            <Name lang="en">apolipoprotein E</Name>
+            <Symbol>APOE</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000130203</Reference>
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+                <Reference>613</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P02649</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15365127[PMID]</SourceOfValidation>
+          <Gene id="17217">
+            <Name lang="en">synuclein beta</Name>
+            <Symbol>SNCB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">&amp;#946;-synuclein</Synonym>
+              <Synonym lang="en">ß-synuclein</Synonym>
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+                <Reference>Q16143</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11140</Reference>
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+                <Reference>602569</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16143</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074317</Reference>
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+              <ExternalReference id="36348">
+                <Source>Genatlas</Source>
+                <Reference>SNCB</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3409">
+      <OrphaCode>1171</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1171</ExpertLink>
+      <Name lang="en">Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15967">
+            <Name lang="en">ATPase Na+/K+ transporting subunit alpha 3</Name>
+            <Symbol>ATP1A3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">sodium pump subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193614">
+                <Source>IUPHAR</Source>
+                <Reference>835</Reference>
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+              <ExternalReference id="59243">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105409</Reference>
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+              <ExternalReference id="29033">
+                <Source>Genatlas</Source>
+                <Reference>ATP1A3</Reference>
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+              <ExternalReference id="29031">
+                <Source>HGNC</Source>
+                <Reference>801</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182350</Reference>
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+              <ExternalReference id="59244">
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+                <Reference>P13637</Reference>
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+                <Reference>P13637</Reference>
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+    <Disorder id="18863">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217566</ExpertLink>
+      <Name lang="en">Chronic respiratory distress with surfactant metabolism deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22018035[PMID]_20403820[PMID]</SourceOfValidation>
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+            <Name lang="en">surfactant protein C</Name>
+            <Symbol>SFTPC</Symbol>
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+              <Synonym lang="en">BRICD6</Synonym>
+              <Synonym lang="en">BRICHOS domain containing 6</Synonym>
+              <Synonym lang="en">PSP-C</Synonym>
+              <Synonym lang="en">SMDP2</Synonym>
+              <Synonym lang="en">SP-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58760">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168484</Reference>
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+              <ExternalReference id="25753">
+                <Source>Genatlas</Source>
+                <Reference>SFTPC</Reference>
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+              <ExternalReference id="25755">
+                <Source>HGNC</Source>
+                <Reference>10802</Reference>
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+                <Source>OMIM</Source>
+                <Reference>178620</Reference>
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+              <ExternalReference id="97169">
+                <Source>Reactome</Source>
+                <Reference>P11686</Reference>
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+              <ExternalReference id="33837">
+                <Source>SwissProt</Source>
+                <Reference>P11686</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18862">
+      <OrphaCode>217563</OrphaCode>
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+      <Name lang="en">Neonatal acute respiratory distress due to SP-B deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23330012[PMID]</SourceOfValidation>
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+            <Name lang="en">surfactant protein B</Name>
+            <Symbol>SFTPB</Symbol>
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+              <Synonym lang="en">SP-B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168878</Reference>
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+              <ExternalReference id="25751">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10801</Reference>
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+                <Source>OMIM</Source>
+                <Reference>178640</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P07988</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07988</Reference>
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+      <Name lang="en">Hereditary hypotrichosis with recurrent skin vesicles</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">DSC1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134762</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DSC3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3037</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600271</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14574</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14574</Reference>
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+      <Name lang="en">Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">histidine-proline rich glycoprotein</Synonym>
+              <Synonym lang="en">thrombophilia due to elevated HRG</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113905</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Combined immunodeficiency due to DOCK8 deficiency</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107099</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>19191</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NF50</Reference>
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+            <Symbol>PAFAH1B1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007168</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 25 member 19</Name>
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+                <Reference>14409</Reference>
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+                <Reference>606521</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HC21</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125454</Reference>
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+                <Reference>1073</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HC21</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18849">
+      <OrphaCode>217371</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217371</ExpertLink>
+      <Name lang="en">Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19732863[PMID]</SourceOfValidation>
+          <Gene id="15664">
+            <Name lang="en">tRNA mitochondrial 2-thiouridylase</Name>
+            <Symbol>TRMU</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ10140</Synonym>
+              <Synonym lang="en">MTO2</Synonym>
+              <Synonym lang="en">MTU1</Synonym>
+              <Synonym lang="en">mitochondrial tRNA-specific 2-thiouridylase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59631">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100416</Reference>
+              </ExternalReference>
+              <ExternalReference id="37389">
+                <Source>Genatlas</Source>
+                <Reference>TRMU</Reference>
+              </ExternalReference>
+              <ExternalReference id="27609">
+                <Source>HGNC</Source>
+                <Reference>25481</Reference>
+              </ExternalReference>
+              <ExternalReference id="27608">
+                <Source>OMIM</Source>
+                <Reference>610230</Reference>
+              </ExternalReference>
+              <ExternalReference id="98052">
+                <Source>Reactome</Source>
+                <Reference>O75648</Reference>
+              </ExternalReference>
+              <ExternalReference id="32636">
+                <Source>SwissProt</Source>
+                <Reference>O75648</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24669">
+                <GeneLocus>22q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18851">
+      <OrphaCode>217382</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=217382</ExpertLink>
+      <Name lang="en">Neurodegenerative syndrome due to cerebral folate transport deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19732866[PMID]</SourceOfValidation>
+          <Gene id="18926">
+            <Name lang="en">folate receptor 1</Name>
+            <Symbol>FOLR1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FRa</Synonym>
+              <Synonym lang="en">folate receptor alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97286">
+                <Source>Reactome</Source>
+                <Reference>P15328</Reference>
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+              <ExternalReference id="44091">
+                <Source>SwissProt</Source>
+                <Reference>P15328</Reference>
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+              <ExternalReference id="60339">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110195</Reference>
+              </ExternalReference>
+              <ExternalReference id="44088">
+                <Source>Genatlas</Source>
+                <Reference>FOLR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="44089">
+                <Source>HGNC</Source>
+                <Reference>3791</Reference>
+              </ExternalReference>
+              <ExternalReference id="44090">
+                <Source>OMIM</Source>
+                <Reference>136430</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11q13.4</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18850">
+      <OrphaCode>217377</OrphaCode>
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+      <Name lang="en">Microduplication Xp11.22p11.23 syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26059843[PMID]</SourceOfValidation>
+          <Gene id="19225">
+            <Name lang="en">IQ motif and Sec7 domain ArfGEF 2</Name>
+            <Symbol>IQSEC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BRAG1</Synonym>
+              <Synonym lang="en">IQ-ArfGEF</Synonym>
+              <Synonym lang="en">KIAA0522</Synonym>
+              <Synonym lang="en">brefeldin A resistant Arf-guanine nucleotide exchange factor 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58456">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124313</Reference>
+              </ExternalReference>
+              <ExternalReference id="46430">
+                <Source>Genatlas</Source>
+                <Reference>IQSEC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="46431">
+                <Source>HGNC</Source>
+                <Reference>29059</Reference>
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+              <ExternalReference id="46433">
+                <Source>OMIM</Source>
+                <Reference>300522</Reference>
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+              <ExternalReference id="46432">
+                <Source>SwissProt</Source>
+                <Reference>Q5JU85</Reference>
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+                <GeneLocus>Xp11.22</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18879">
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+      <Name lang="en">Sensorineural deafness with dilated cardiomyopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15735644[PMID]</SourceOfValidation>
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+            <Name lang="en">EYA transcriptional coactivator and phosphatase 4</Name>
+            <Symbol>EYA4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59571">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112319</Reference>
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+              <ExternalReference id="29239">
+                <Source>Genatlas</Source>
+                <Reference>EYA4</Reference>
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+              <ExternalReference id="29241">
+                <Source>HGNC</Source>
+                <Reference>3522</Reference>
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+              <ExternalReference id="29240">
+                <Source>OMIM</Source>
+                <Reference>603550</Reference>
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+              <ExternalReference id="97219">
+                <Source>Reactome</Source>
+                <Reference>O95677</Reference>
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+              <ExternalReference id="33021">
+                <Source>SwissProt</Source>
+                <Reference>O95677</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Congenital factor XIII deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21738029[PMID]</SourceOfValidation>
+          <Gene id="16011">
+            <Name lang="en">coagulation factor XIII A chain</Name>
+            <Symbol>F13A1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000124491</Reference>
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+              <ExternalReference id="29259">
+                <Source>Genatlas</Source>
+                <Reference>F13A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3531</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P00488</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00488</Reference>
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+          <SourceOfValidation>21738029[PMID]</SourceOfValidation>
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+            <Name lang="en">coagulation factor XIII B chain</Name>
+            <Symbol>F13B</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>3534</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Carnitine-acylcarnitine translocase deficiency</Name>
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+            <Name lang="en">solute carrier family 25 member 20</Name>
+            <Symbol>SLC25A20</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAC</Synonym>
+              <Synonym lang="en">carnitine-acylcarnitine carrier</Synonym>
+              <Synonym lang="en">carnitine/acylcarnitine translocase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193539">
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+                <Reference>1076</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178537</Reference>
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+                <Reference>SLC25A20</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>O43772</Reference>
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+      <Name lang="en">Congenital alpha2-antiplasmin deficiency</Name>
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+            <Name lang="en">serpin family F member 2</Name>
+            <Symbol>SERPINF2</Symbol>
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+              <Synonym lang="en">API</Synonym>
+              <Synonym lang="en">alpha-2-antiplasmin</Synonym>
+              <Synonym lang="en">alpha-2-plasmin inhibitor</Synonym>
+              <Synonym lang="en">alpha2AP</Synonym>
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+                <Source>Ensembl</Source>
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+                <Reference>9075</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Limited cutaneous systemic sclerosis</Name>
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+            <Name lang="en">caveolin 1</Name>
+            <Symbol>CAV1</Symbol>
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+                <Reference>ENSG00000105974</Reference>
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+                <Reference>1527</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601047</Reference>
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+              <ExternalReference id="57907">
+                <Source>Reactome</Source>
+                <Reference>Q03135</Reference>
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+              <ExternalReference id="40131">
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+                <Reference>Q03135</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000196126</Reference>
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+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17583">
+            <Name lang="en">cellular communication network factor 2</Name>
+            <Symbol>CCN2</Symbol>
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+              <Synonym lang="en">IGFBP8</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000118523</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTGF</Reference>
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+                <Reference>2500</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23372721[PMID]</SourceOfValidation>
+          <Gene id="19316">
+            <Name lang="en">interferon regulatory factor 5</Name>
+            <Symbol>IRF5</Symbol>
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+              <Synonym lang="en">IRF-5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000128604</Reference>
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+              <ExternalReference id="47729">
+                <Source>Genatlas</Source>
+                <Reference>IRF5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6120</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13568</Reference>
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+                <Reference>Q13568</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <SourceOfValidation>23740937[PMID]</SourceOfValidation>
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+            <Name lang="en">KIAA0319 like</Name>
+            <Symbol>KIAA0319L</Symbol>
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+              <Synonym lang="en">AAV receptor</Synonym>
+              <Synonym lang="en">AAVR</Synonym>
+              <Synonym lang="en">KIAA1837</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8IZA0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142687</Reference>
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+                <Reference>30071</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">C-C motif chemokine receptor 6</Name>
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+              <Synonym lang="en">CKR-L3</Synonym>
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+              <Synonym lang="en">DRY-6</Synonym>
+              <Synonym lang="en">GPR-CY4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112486</Reference>
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+            <Symbol>AASS</Symbol>
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+              <Synonym lang="en">alpha-aminoadipic semialdehyde synthase</Synonym>
+              <Synonym lang="en">lysine ketoglutarate reductase/saccharopine dehydrogenase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9UDR5</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>OMIM</Source>
+                <Reference>181590</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15468</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15164">
+            <Name lang="en">patched 1</Name>
+            <Symbol>PTCH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BCNS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185920</Reference>
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+              <ExternalReference id="36697">
+                <Source>Genatlas</Source>
+                <Reference>PTCH1</Reference>
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+              <ExternalReference id="25214">
+                <Source>HGNC</Source>
+                <Reference>9585</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601309</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13635</Reference>
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+              <ExternalReference id="33688">
+                <Source>SwissProt</Source>
+                <Reference>Q13635</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164690</Reference>
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+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
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+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15296">
+            <Name lang="en">SIX homeobox 3</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57396">
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+                <Reference>ENSG00000138083</Reference>
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+              <ExternalReference id="25841">
+                <Source>Genatlas</Source>
+                <Reference>SIX3</Reference>
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+                <Reference>10889</Reference>
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+                <Reference>603714</Reference>
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+              <ExternalReference id="33854">
+                <Source>SwissProt</Source>
+                <Reference>O95343</Reference>
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+              <ExternalReference id="143881">
+                <Source>Reactome</Source>
+                <Reference>O95343</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15612">
+            <Name lang="en">TGFB induced factor homeobox 1</Name>
+            <Symbol>TGIF1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177426</Reference>
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+              <ExternalReference id="36450">
+                <Source>Genatlas</Source>
+                <Reference>TGIF1</Reference>
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+              <ExternalReference id="27363">
+                <Source>HGNC</Source>
+                <Reference>11776</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602630</Reference>
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+              <ExternalReference id="82833">
+                <Source>Reactome</Source>
+                <Reference>Q15583</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15583</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15744">
+            <Name lang="en">Zic family member 2</Name>
+            <Symbol>ZIC2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000043355</Reference>
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+              <ExternalReference id="27983">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Reference>O95409</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16803">
+            <Name lang="en">GLI family zinc finger 2</Name>
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+              <Synonym lang="en">THP1</Synonym>
+              <Synonym lang="en">THP2</Synonym>
+              <Synonym lang="en">tax helper protein 1</Synonym>
+              <Synonym lang="en">tax helper protein 2</Synonym>
+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000074047</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="35015">
+                <Source>SwissProt</Source>
+                <Reference>P10070</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="16804">
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+              <Synonym lang="en">CRIPTO</Synonym>
+              <Synonym lang="en">Cripto-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Reference>11701</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17366">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17965">
+            <Name lang="en">fibroblast growth factor 8</Name>
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+              <Synonym lang="en">androgen-induced growth factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107831</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">DKFZP434I0428</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000154309</Reference>
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+              <Synonym lang="en">Ihog</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>2908</Reference>
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+                <Reference>606582</Reference>
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+              <ExternalReference id="59730">
+                <Source>Reactome</Source>
+                <Reference>O00548</Reference>
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+              <ExternalReference id="54425">
+                <Source>SwissProt</Source>
+                <Reference>O00548</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
+            <Symbol>GAS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Growth arrest-specific gene-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59735">
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+                <Reference>ENSG00000180447</Reference>
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+              <ExternalReference id="54928">
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+              <ExternalReference id="54929">
+                <Source>HGNC</Source>
+                <Reference>4165</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139185</Reference>
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+              <ExternalReference id="97315">
+                <Source>Reactome</Source>
+                <Reference>P54826</Reference>
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+                <Reference>P54826</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2203</ExpertLink>
+      <Name lang="en">Hyperlysinemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16442">
+            <Name lang="en">aminoadipate-semialdehyde synthase</Name>
+            <Symbol>AASS</Symbol>
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+              <Synonym lang="en">LKRSDH</Synonym>
+              <Synonym lang="en">LORSDH</Synonym>
+              <Synonym lang="en">alpha-aminoadipic semialdehyde synthase</Synonym>
+              <Synonym lang="en">lysine ketoglutarate reductase/saccharopine dehydrogenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58555">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008311</Reference>
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+              <ExternalReference id="36680">
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+                <Reference>AASS</Reference>
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+              <ExternalReference id="34016">
+                <Source>HGNC</Source>
+                <Reference>17366</Reference>
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+              <ExternalReference id="31309">
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+                <Reference>605113</Reference>
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+              <ExternalReference id="58556">
+                <Source>Reactome</Source>
+                <Reference>Q9UDR5</Reference>
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+                <Reference>Q9UDR5</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=220393</ExpertLink>
+      <Name lang="en">Diffuse cutaneous systemic sclerosis</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">caveolin 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105974</Reference>
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+              <ExternalReference id="40128">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1527</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601047</Reference>
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+              <ExternalReference id="57907">
+                <Source>Reactome</Source>
+                <Reference>Q03135</Reference>
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+              <ExternalReference id="40131">
+                <Source>SwissProt</Source>
+                <Reference>Q03135</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000196126</Reference>
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+              <ExternalReference id="37478">
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
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+            <Name lang="en">Not yet assessed</Name>
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+          <Gene id="17583">
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Bleeding diathesis due to thromboxane synthesis deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20835">
+            <Name lang="en">thromboxane A2 receptor</Name>
+            <Symbol>TBXA2R</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83300">
+                <Source>IUPHAR</Source>
+                <Reference>346</Reference>
+              </ExternalReference>
+              <ExternalReference id="61220">
+                <Source>OMIM</Source>
+                <Reference>188070</Reference>
+              </ExternalReference>
+              <ExternalReference id="83298">
+                <Source>Reactome</Source>
+                <Reference>P21731</Reference>
+              </ExternalReference>
+              <ExternalReference id="61222">
+                <Source>SwissProt</Source>
+                <Reference>P21731</Reference>
+              </ExternalReference>
+              <ExternalReference id="83299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006638</Reference>
+              </ExternalReference>
+              <ExternalReference id="61221">
+                <Source>Genatlas</Source>
+                <Reference>TBXA2R</Reference>
+              </ExternalReference>
+              <ExternalReference id="61219">
+                <Source>HGNC</Source>
+                <Reference>11608</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11873">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3351">
+      <OrphaCode>2170</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2170</ExpertLink>
+      <Name lang="en">Methylcobalamin deficiency type cblG</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301503[PMID]</SourceOfValidation>
+          <Gene id="16485">
+            <Name lang="en">5-methyltetrahydrofolate-homocysteine methyltransferase</Name>
+            <Symbol>MTR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Methionine synthase</Synonym>
+              <Synonym lang="en">cblG</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="33550">
+                <Source>SwissProt</Source>
+                <Reference>Q99707</Reference>
+              </ExternalReference>
+              <ExternalReference id="190404">
+                <Source>IUPHAR</Source>
+                <Reference>3099</Reference>
+              </ExternalReference>
+              <ExternalReference id="58372">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116984</Reference>
+              </ExternalReference>
+              <ExternalReference id="31519">
+                <Source>Genatlas</Source>
+                <Reference>MTR</Reference>
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+              <ExternalReference id="31517">
+                <Source>HGNC</Source>
+                <Reference>7468</Reference>
+              </ExternalReference>
+              <ExternalReference id="31516">
+                <Source>OMIM</Source>
+                <Reference>156570</Reference>
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+              <ExternalReference id="58373">
+                <Source>Reactome</Source>
+                <Reference>Q99707</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="18903">
+      <OrphaCode>220295</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=220295</ExpertLink>
+      <Name lang="en">Xeroderma pigmentosum-Cockayne syndrome complex</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="16666">
+            <Name lang="en">ERCC excision repair 5, endonuclease</Name>
+            <Symbol>ERCC5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Cockayne syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33987">
+                <Source>Genatlas</Source>
+                <Reference>ERCC5</Reference>
+              </ExternalReference>
+              <ExternalReference id="33989">
+                <Source>HGNC</Source>
+                <Reference>3437</Reference>
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+              <ExternalReference id="33988">
+                <Source>OMIM</Source>
+                <Reference>133530</Reference>
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+              <ExternalReference id="58072">
+                <Source>Reactome</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="33990">
+                <Source>SwissProt</Source>
+                <Reference>P28715</Reference>
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+              <ExternalReference id="58071">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134899</Reference>
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+              <Locus id="20749">
+                <GeneLocus>13q33.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15990">
+            <Name lang="en">ERCC excision repair 4, endonuclease catalytic subunit</Name>
+            <Symbol>ERCC4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FANCQ</Synonym>
+              <Synonym lang="en">RAD1</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum, complementation group F</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="29153">
+                <Source>OMIM</Source>
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+              <ExternalReference id="60538">
+                <Source>Reactome</Source>
+                <Reference>Q92889</Reference>
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+              <ExternalReference id="33003">
+                <Source>SwissProt</Source>
+                <Reference>Q92889</Reference>
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+              <ExternalReference id="60537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175595</Reference>
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+              <ExternalReference id="29156">
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+                <Reference>ERCC4</Reference>
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+                <GeneLocus>16p13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
+          <Gene id="15989">
+            <Name lang="en">ERCC excision repair 2, TFIIH core complex helicase subunit</Name>
+            <Symbol>ERCC2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">EM9</Synonym>
+              <Synonym lang="en">MAG</Synonym>
+              <Synonym lang="en">MGC102762</Synonym>
+              <Synonym lang="en">MGC126218</Synonym>
+              <Synonym lang="en">MGC126219</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">TFIIH basal transcription factor complex helicase XPB subunit</Synonym>
+              <Synonym lang="en">excision repair cross-complementing rodent repair deficiency, complementation group 2 protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57879">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104884</Reference>
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+              <ExternalReference id="29139">
+                <Source>Genatlas</Source>
+                <Reference>ERCC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3434</Reference>
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+              <ExternalReference id="29136">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P18074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P18074</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301571[PMID]</SourceOfValidation>
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+            <Name lang="en">ERCC excision repair 3, TFIIH core complex helicase subunit</Name>
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+              <Synonym lang="en">GTF2H</Synonym>
+              <Synonym lang="en">RAD25</Synonym>
+              <Synonym lang="en">Ssl2</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">XPB</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum group B complementing</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57881">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163161</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERCC3</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P19447</Reference>
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+      <Name lang="en">Gyrate atrophy of choroid and retina</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ornithine aminotransferase</Name>
+            <Symbol>OAT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HOGA</Synonym>
+              <Synonym lang="en">Ornithine aminotransferase</Synonym>
+              <Synonym lang="en">gyrate atrophy</Synonym>
+              <Synonym lang="en">ornithine aminotransferase precursor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>8091</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hyperammonemia due to N-acetylglutamate synthase deficiency</Name>
+      <DisorderType id="21394">
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+      </DisorderType>
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+            <Symbol>NAGS</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161653</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Phosphoenolpyruvate carboxykinase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+              <Synonym lang="en">PEPCK-C</Synonym>
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+                <Reference>ENSG00000124253</Reference>
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+                <Reference>8724</Reference>
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+                <Reference>614168</Reference>
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+          <SourceOfValidation>2044592[PMID]</SourceOfValidation>
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+            <Name lang="en">phosphoenolpyruvate carboxykinase 2, mitochondrial</Name>
+            <Symbol>PCK2</Symbol>
+            <SynonymList count="2">
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+      <Name lang="en">D-glyceric aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20949620[PMID]</SourceOfValidation>
+          <Gene id="19844">
+            <Name lang="en">glycerate kinase</Name>
+            <Symbol>GLYCTK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HBEBP2</Synonym>
+              <Synonym lang="en">HBEBP4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="50856">
+                <Source>OMIM</Source>
+                <Reference>610516</Reference>
+              </ExternalReference>
+              <ExternalReference id="50858">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVS8</Reference>
+              </ExternalReference>
+              <ExternalReference id="58559">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168237</Reference>
+              </ExternalReference>
+              <ExternalReference id="50857">
+                <Source>Genatlas</Source>
+                <Reference>GLYCTK</Reference>
+              </ExternalReference>
+              <ExternalReference id="50855">
+                <Source>HGNC</Source>
+                <Reference>24247</Reference>
+              </ExternalReference>
+              <ExternalReference id="100328">
+                <Source>Reactome</Source>
+                <Reference>Q8IVS8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20531">
+                <GeneLocus>3p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="18913">
+      <OrphaCode>220465</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=220465</ExpertLink>
+      <Name lang="en">Laron syndrome with immunodeficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22419735[PMID]</SourceOfValidation>
+          <Gene id="15564">
+            <Name lang="en">signal transducer and activator of transcription 5B</Name>
+            <Symbol>STAT5B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173757</Reference>
+              </ExternalReference>
+              <ExternalReference id="27134">
+                <Source>Genatlas</Source>
+                <Reference>STAT5B</Reference>
+              </ExternalReference>
+              <ExternalReference id="27132">
+                <Source>HGNC</Source>
+                <Reference>11367</Reference>
+              </ExternalReference>
+              <ExternalReference id="27131">
+                <Source>OMIM</Source>
+                <Reference>604260</Reference>
+              </ExternalReference>
+              <ExternalReference id="60354">
+                <Source>Reactome</Source>
+                <Reference>P51692</Reference>
+              </ExternalReference>
+              <ExternalReference id="32535">
+                <Source>SwissProt</Source>
+                <Reference>P51692</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19919">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3363">
+      <OrphaCode>2843</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2843</ExpertLink>
+      <Name lang="en">Pentosuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22042873[PMID]</SourceOfValidation>
+          <Gene id="20310">
+            <Name lang="en">dicarbonyl and L-xylulose reductase</Name>
+            <Symbol>DCXR</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">DCR</Synonym>
+              <Synonym lang="en">HCR2</Synonym>
+              <Synonym lang="en">KIDCR</Synonym>
+              <Synonym lang="en">P34H</Synonym>
+              <Synonym lang="en">SDR20C1</Synonym>
+              <Synonym lang="en">human carbonyl reductase 2</Synonym>
+              <Synonym lang="en">kidney dicarbonyl reductase</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 20C, member 1</Synonym>
+              <Synonym lang="en">sperm surface protein P34H</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58560">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169738</Reference>
+              </ExternalReference>
+              <ExternalReference id="53030">
+                <Source>Genatlas</Source>
+                <Reference>DCXR</Reference>
+              </ExternalReference>
+              <ExternalReference id="53028">
+                <Source>HGNC</Source>
+                <Reference>18985</Reference>
+              </ExternalReference>
+              <ExternalReference id="53029">
+                <Source>OMIM</Source>
+                <Reference>608347</Reference>
+              </ExternalReference>
+              <ExternalReference id="97312">
+                <Source>Reactome</Source>
+                <Reference>Q7Z4W1</Reference>
+              </ExternalReference>
+              <ExternalReference id="53031">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z4W1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16871">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="18917">
+      <OrphaCode>220497</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=220497</ExpertLink>
+      <Name lang="en">Joubert syndrome with renal defect</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20615230[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="16563">
+            <Name lang="en">nephrocystin 1</Name>
+            <Symbol>NPHP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JBTS4</Synonym>
+              <Synonym lang="en">SLSN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58332">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144061</Reference>
+              </ExternalReference>
+              <ExternalReference id="31887">
+                <Source>Genatlas</Source>
+                <Reference>NPHP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31885">
+                <Source>HGNC</Source>
+                <Reference>7905</Reference>
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+              <ExternalReference id="31884">
+                <Source>OMIM</Source>
+                <Reference>607100</Reference>
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+              <ExternalReference id="97243">
+                <Source>Reactome</Source>
+                <Reference>O15259</Reference>
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+              <ExternalReference id="33628">
+                <Source>SwissProt</Source>
+                <Reference>O15259</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20615230[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="16985">
+            <Name lang="en">RPGRIP1 like</Name>
+            <Symbol>RPGRIP1L</Symbol>
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+              <Synonym lang="en">CORS3</Synonym>
+              <Synonym lang="en">FTM</Synonym>
+              <Synonym lang="en">JBTS7</Synonym>
+              <Synonym lang="en">KIAA1005</Synonym>
+              <Synonym lang="en">MKS5</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 5</Synonym>
+              <Synonym lang="en">NPHP8</Synonym>
+              <Synonym lang="en">PPP1R134</Synonym>
+              <Synonym lang="en">fantom homolog</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 134</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57107">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103494</Reference>
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+              <ExternalReference id="36971">
+                <Source>Genatlas</Source>
+                <Reference>RPGRIP1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29168</Reference>
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+              <ExternalReference id="35913">
+                <Source>OMIM</Source>
+                <Reference>610937</Reference>
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+              <ExternalReference id="97252">
+                <Source>Reactome</Source>
+                <Reference>Q68CZ1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q68CZ1</Reference>
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+                <GeneLocus>16q12.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301500[PMID]_22152675[PMID]</SourceOfValidation>
+          <Gene id="20689">
+            <Name lang="en">transmembrane protein 237</Name>
+            <Symbol>TMEM237</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JBTS14</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155755</Reference>
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+              <ExternalReference id="55019">
+                <Source>Genatlas</Source>
+                <Reference>TMEM237</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14432</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614423</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96Q45</Reference>
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+                <GeneLocus>2q33.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=212</ExpertLink>
+      <Name lang="en">Cystathioninuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20584029[PMID]_19428278[PMID]</SourceOfValidation>
+          <Gene id="15817">
+            <Name lang="en">cystathionine gamma-lyase</Name>
+            <Symbol>CTH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CSE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193632">
+                <Source>IUPHAR</Source>
+                <Reference>1444</Reference>
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+              <ExternalReference id="58561">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116761</Reference>
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+              <ExternalReference id="28330">
+                <Source>Genatlas</Source>
+                <Reference>CTH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2501</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607657</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P32929</Reference>
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+                <Reference>P32929</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Joubert syndrome with ocular defect</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20615230[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="15478">
+            <Name lang="en">Abelson helper integration site 1</Name>
+            <Symbol>AHI1</Symbol>
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+              <Synonym lang="en">FLJ20069</Synonym>
+              <Synonym lang="en">JBTS3</Synonym>
+              <Synonym lang="en">Jouberin</Synonym>
+              <Synonym lang="en">ORF1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>AHI1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21575</Reference>
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+                <Reference>608894</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N157</Reference>
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+              <Synonym lang="en">FLJ20345</Synonym>
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+              <Synonym lang="en">POC12 centriolar protein homolog (Chlamydomonas)</Synonym>
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+                <Reference>7121</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NXB0</Reference>
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+          <SourceOfValidation>23386033[PMID]_19668216[PMID]_20301500[PMID]</SourceOfValidation>
+          <Gene id="18603">
+            <Name lang="en">inositol polyphosphate-5-phosphatase E</Name>
+            <Symbol>INPP5E</Symbol>
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+              <Synonym lang="en">CORS1</Synonym>
+              <Synonym lang="en">PPI5PIV</Synonym>
+              <Synonym lang="en">pharbin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000148384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>INPP5E</Reference>
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+                <Reference>21474</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NRR6</Reference>
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+                <Reference>Q9NRR6</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1456</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>20301500[PMID]_22246503[PMID]</SourceOfValidation>
+          <Gene id="20825">
+            <Name lang="en">centrosomal protein 41</Name>
+            <Symbol>CEP41</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp762H1311</Synonym>
+              <Synonym lang="en">FLJ22445</Synonym>
+              <Synonym lang="en">JBTS15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83285">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106477</Reference>
+              </ExternalReference>
+              <ExternalReference id="61117">
+                <Source>Genatlas</Source>
+                <Reference>CEP41</Reference>
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+              <ExternalReference id="61115">
+                <Source>HGNC</Source>
+                <Reference>12370</Reference>
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+              <ExternalReference id="61116">
+                <Source>OMIM</Source>
+                <Reference>610523</Reference>
+              </ExternalReference>
+              <ExternalReference id="83284">
+                <Source>Reactome</Source>
+                <Reference>Q9BYV8</Reference>
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+              <ExternalReference id="61118">
+                <Source>SwissProt</Source>
+                <Reference>Q9BYV8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21825">
+                <GeneLocus>7q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27208211[PMID]</SourceOfValidation>
+          <Gene id="23142">
+            <Name lang="en">centrosomal protein 120</Name>
+            <Symbol>CEP120</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ36090</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95308">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168944</Reference>
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+              <ExternalReference id="95306">
+                <Source>Genatlas</Source>
+                <Reference>CEP120</Reference>
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+              <ExternalReference id="95304">
+                <Source>HGNC</Source>
+                <Reference>26690</Reference>
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+              <ExternalReference id="95305">
+                <Source>OMIM</Source>
+                <Reference>613446</Reference>
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+              <ExternalReference id="95307">
+                <Source>SwissProt</Source>
+                <Reference>Q8N960</Reference>
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+            <LocusList count="1">
+              <Locus id="14781">
+                <GeneLocus>5q23.2</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3366">
+      <OrphaCode>470</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=470</ExpertLink>
+      <Name lang="en">Lysinuric protein intolerance</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301535[PMID]</SourceOfValidation>
+          <Gene id="15520">
+            <Name lang="en">solute carrier family 7 member 7</Name>
+            <Symbol>SLC7A7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">y+LAT-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193647">
+                <Source>IUPHAR</Source>
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+              <ExternalReference id="58563">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155465</Reference>
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+              <ExternalReference id="26922">
+                <Source>Genatlas</Source>
+                <Reference>SLC7A7</Reference>
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+              <ExternalReference id="26924">
+                <Source>HGNC</Source>
+                <Reference>11065</Reference>
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+              <ExternalReference id="26923">
+                <Source>OMIM</Source>
+                <Reference>603593</Reference>
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+              <ExternalReference id="58564">
+                <Source>Reactome</Source>
+                <Reference>Q9UM01</Reference>
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+              <ExternalReference id="32491">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM01</Reference>
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+            <LocusList count="1">
+              <Locus id="66703">
+                <GeneLocus>14q11.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3384">
+      <OrphaCode>145</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=145</ExpertLink>
+      <Name lang="en">Hereditary breast and ovarian cancer syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23779253[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+              <ExternalReference id="25221">
+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
+                <Source>Genatlas</Source>
+                <Reference>PTEN</Reference>
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+            <LocusList count="1">
+              <Locus id="66529">
+                <GeneLocus>10q23.31</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10807537[PMID]_24114315[PMID]</SourceOfValidation>
+          <Gene id="15183">
+            <Name lang="en">RAD51 recombinase</Name>
+            <Symbol>RAD51</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 5</Synonym>
+              <Synonym lang="en">BRCC5</Synonym>
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+              <Synonym lang="en">HsRad51</Synonym>
+              <Synonym lang="en">HsT16930</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58596">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000051180</Reference>
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+              <ExternalReference id="37325">
+                <Source>Genatlas</Source>
+                <Reference>RAD51</Reference>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="25304">
+                <Source>OMIM</Source>
+                <Reference>179617</Reference>
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+              <ExternalReference id="58597">
+                <Source>Reactome</Source>
+                <Reference>Q06609</Reference>
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+              <ExternalReference id="33707">
+                <Source>SwissProt</Source>
+                <Reference>Q06609</Reference>
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+              <Locus id="6933">
+                <GeneLocus>15q15.1</GeneLocus>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16112002[PMID]_20301425[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
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+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
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+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33935">
+                <Source>SwissProt</Source>
+                <Reference>P51587</Reference>
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+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BRCA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
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+              <ExternalReference id="57416">
+                <Source>Reactome</Source>
+                <Reference>P51587</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17033622[PMID]</SourceOfValidation>
+          <Gene id="15379">
+            <Name lang="en">BRCA1 interacting helicase 1</Name>
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+            <SynonymList count="7">
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+              <Synonym lang="en">BRCA1-associated C-terminal helicase</Synonym>
+              <Synonym lang="en">BRCA1/BRCA2-associated helicase 1</Synonym>
+              <Synonym lang="en">FANCJ</Synonym>
+              <Synonym lang="en">FANCJ helicase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57413">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136492</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20473</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605882</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21562711[PMID]</SourceOfValidation>
+          <Gene id="15444">
+            <Name lang="en">checkpoint kinase 2</Name>
+            <Symbol>CHEK2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183765</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1988</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24884479[PMID]_23779253[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22006311[PMID]_14684699[PMID]</SourceOfValidation>
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+            <Name lang="en">MRE11 homolog, double strand break repair nuclease</Name>
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+              <Synonym lang="en">AT-like disease</Synonym>
+              <Synonym lang="en">ATLD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000020922</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
+                <Reference>P49959</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49959</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22006311[PMID]_14684699[PMID]</SourceOfValidation>
+          <Gene id="16518">
+            <Name lang="en">nibrin</Name>
+            <Symbol>NBN</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>7652</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602667</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23779253[PMID]</SourceOfValidation>
+          <Gene id="16873">
+            <Name lang="en">partner and localizer of BRCA2</Name>
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+              <Synonym lang="en">FLJ21816</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group N</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57437">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083093</Reference>
+              </ExternalReference>
+              <ExternalReference id="35321">
+                <Source>Genatlas</Source>
+                <Reference>PALB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="35322">
+                <Source>HGNC</Source>
+                <Reference>26144</Reference>
+              </ExternalReference>
+              <ExternalReference id="35323">
+                <Source>OMIM</Source>
+                <Reference>610355</Reference>
+              </ExternalReference>
+              <ExternalReference id="57438">
+                <Source>Reactome</Source>
+                <Reference>Q86YC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="35324">
+                <Source>SwissProt</Source>
+                <Reference>Q86YC2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15861">
+                <GeneLocus>16p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15342711[PMID]</SourceOfValidation>
+          <Gene id="18430">
+            <Name lang="en">BRCA1 associated RING domain 1</Name>
+            <Symbol>BARD1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58595">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138376</Reference>
+              </ExternalReference>
+              <ExternalReference id="42171">
+                <Source>Genatlas</Source>
+                <Reference>BARD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="42172">
+                <Source>HGNC</Source>
+                <Reference>952</Reference>
+              </ExternalReference>
+              <ExternalReference id="42173">
+                <Source>OMIM</Source>
+                <Reference>601593</Reference>
+              </ExternalReference>
+              <ExternalReference id="97279">
+                <Source>Reactome</Source>
+                <Reference>Q99728</Reference>
+              </ExternalReference>
+              <ExternalReference id="42174">
+                <Source>SwissProt</Source>
+                <Reference>Q99728</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16805">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20400964[PMID]_21990120[PMID]</SourceOfValidation>
+          <Gene id="19136">
+            <Name lang="en">RAD51 paralog C</Name>
+            <Symbol>RAD51C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FANCO</Synonym>
+              <Synonym lang="en">RAD51L2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57439">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108384</Reference>
+              </ExternalReference>
+              <ExternalReference id="45520">
+                <Source>Genatlas</Source>
+                <Reference>RAD51C</Reference>
+              </ExternalReference>
+              <ExternalReference id="45519">
+                <Source>HGNC</Source>
+                <Reference>9820</Reference>
+              </ExternalReference>
+              <ExternalReference id="45521">
+                <Source>OMIM</Source>
+                <Reference>602774</Reference>
+              </ExternalReference>
+              <ExternalReference id="57440">
+                <Source>Reactome</Source>
+                <Reference>O43502</Reference>
+              </ExternalReference>
+              <ExternalReference id="45522">
+                <Source>SwissProt</Source>
+                <Reference>O43502</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23497">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22006311[PMID]_14684699[PMID]</SourceOfValidation>
+          <Gene id="19459">
+            <Name lang="en">RAD50 double strand break repair protein</Name>
+            <Symbol>RAD50</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RAD50-2</Synonym>
+              <Synonym lang="en">hRad50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60428">
+                <Source>Reactome</Source>
+                <Reference>Q92878</Reference>
+              </ExternalReference>
+              <ExternalReference id="48309">
+                <Source>SwissProt</Source>
+                <Reference>Q92878</Reference>
+              </ExternalReference>
+              <ExternalReference id="60427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113522</Reference>
+              </ExternalReference>
+              <ExternalReference id="48307">
+                <Source>Genatlas</Source>
+                <Reference>RAD50</Reference>
+              </ExternalReference>
+              <ExternalReference id="48308">
+                <Source>HGNC</Source>
+                <Reference>9816</Reference>
+              </ExternalReference>
+              <ExternalReference id="78954">
+                <Source>OMIM</Source>
+                <Reference>604040</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14513">
+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21822267[PMID]</SourceOfValidation>
+          <Gene id="21074">
+            <Name lang="en">RAD51 paralog D</Name>
+            <Symbol>RAD51D</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DNA repair protein RAD51 homolog 4</Synonym>
+              <Synonym lang="en">HsTRAD</Synonym>
+              <Synonym lang="en">R51H3</Synonym>
+              <Synonym lang="en">Recombination repair protein</Synonym>
+              <Synonym lang="en">Trad</Synonym>
+              <Synonym lang="en">recombination repair protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83331">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185379</Reference>
+              </ExternalReference>
+              <ExternalReference id="100005">
+                <Source>Genatlas</Source>
+                <Reference>RAD51D</Reference>
+              </ExternalReference>
+              <ExternalReference id="61551">
+                <Source>HGNC</Source>
+                <Reference>9823</Reference>
+              </ExternalReference>
+              <ExternalReference id="61552">
+                <Source>OMIM</Source>
+                <Reference>602954</Reference>
+              </ExternalReference>
+              <ExternalReference id="97321">
+                <Source>Reactome</Source>
+                <Reference>O75771</Reference>
+              </ExternalReference>
+              <ExternalReference id="61553">
+                <Source>SwissProt</Source>
+                <Reference>O75771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23669">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16112002[PMID]_20301425[PMID]</SourceOfValidation>
+          <Gene id="15377">
+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 1</Synonym>
+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
+              </ExternalReference>
+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
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+              <ExternalReference id="26226">
+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
+              </ExternalReference>
+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
+              <ExternalReference id="33934">
+                <Source>SwissProt</Source>
+                <Reference>P38398</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14119">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="3387">
+      <OrphaCode>2965</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2965</ExpertLink>
+      <Name lang="en">Prolactinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28413019[PMID]</SourceOfValidation>
+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
+            <Symbol>CDH23</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR23</Synonym>
+              <Synonym lang="en">cadherin-related family member 23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
+              </ExternalReference>
+              <ExternalReference id="26431">
+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
+              </ExternalReference>
+              <ExternalReference id="26433">
+                <Source>HGNC</Source>
+                <Reference>13733</Reference>
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+              <ExternalReference id="26432">
+                <Source>OMIM</Source>
+                <Reference>605516</Reference>
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+              <ExternalReference id="32388">
+                <Source>SwissProt</Source>
+                <Reference>Q9H251</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>10q22.1</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321498[PMID]</SourceOfValidation>
+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56835">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133895</Reference>
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+              <ExternalReference id="31084">
+                <Source>Genatlas</Source>
+                <Reference>MEN1</Reference>
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+              <ExternalReference id="31086">
+                <Source>HGNC</Source>
+                <Reference>7010</Reference>
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+              <ExternalReference id="50621">
+                <Source>OMIM</Source>
+                <Reference>613733</Reference>
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+              <ExternalReference id="82991">
+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22319033[PMID]_23321498[PMID]</SourceOfValidation>
+          <Gene id="18425">
+            <Name lang="en">aryl hydrocarbon receptor interacting protein</Name>
+            <Symbol>AIP</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ARA9</Synonym>
+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135060">
+                <Source>Reactome</Source>
+                <Reference>O00170</Reference>
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+              <ExternalReference id="57241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
+              </ExternalReference>
+              <ExternalReference id="42017">
+                <Source>Genatlas</Source>
+                <Reference>AIP</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>358</Reference>
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+              <ExternalReference id="42019">
+                <Source>OMIM</Source>
+                <Reference>605555</Reference>
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+              <ExternalReference id="42020">
+                <Source>SwissProt</Source>
+                <Reference>O00170</Reference>
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+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3386">
+      <OrphaCode>538</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=538</ExpertLink>
+      <Name lang="en">Lymphangioleiomyomatosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17541983[PMID]</SourceOfValidation>
+          <Gene id="15668">
+            <Name lang="en">TSC complex subunit 1</Name>
+            <Symbol>TSC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0243</Synonym>
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">hamartin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165699</Reference>
+              </ExternalReference>
+              <ExternalReference id="27627">
+                <Source>Genatlas</Source>
+                <Reference>TSC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12362</Reference>
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+              <ExternalReference id="27628">
+                <Source>OMIM</Source>
+                <Reference>605284</Reference>
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+              <ExternalReference id="57591">
+                <Source>Reactome</Source>
+                <Reference>Q92574</Reference>
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+              <ExternalReference id="32640">
+                <Source>SwissProt</Source>
+                <Reference>Q92574</Reference>
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+              <Locus id="7839">
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17541983[PMID]</SourceOfValidation>
+          <Gene id="15669">
+            <Name lang="en">TSC complex subunit 2</Name>
+            <Symbol>TSC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">PPP1R160</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 160</Synonym>
+              <Synonym lang="en">tuberin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="27632">
+                <Source>OMIM</Source>
+                <Reference>191092</Reference>
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+              <ExternalReference id="57593">
+                <Source>Reactome</Source>
+                <Reference>P49815</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49815</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103197</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TSC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12363</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="3391">
+      <OrphaCode>1578</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1578</ExpertLink>
+      <Name lang="en">Pterin-4 alpha-carbinolamine dehydratase deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>9760199[PMID]</SourceOfValidation>
+          <Gene id="16617">
+            <Name lang="en">pterin-4 alpha-carbinolamine dehydratase 1</Name>
+            <Symbol>PCBD1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PCD</Synonym>
+              <Synonym lang="en">Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)</Synonym>
+              <Synonym lang="en">dimerizing cofactor for HNF1</Synonym>
+              <Synonym lang="en">pterin-4-alpha carbinolamine dehydratase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32144">
+                <Source>OMIM</Source>
+                <Reference>126090</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
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+                <Reference>P61457</Reference>
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+                <Reference>ENSG00000166228</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3208</ExpertLink>
+      <Name lang="en">Isolated succinate-CoQ reductase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15261">
+            <Name lang="en">succinate dehydrogenase complex flavoprotein subunit A</Name>
+            <Symbol>SDHA</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">SDHF</Synonym>
+              <Synonym lang="en">flavoprotein subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] flavoprotein subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000073578</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">succinate dehydrogenase complex iron sulfur subunit B</Name>
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+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] iron-sulfur subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P21912</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24367056[PMID]</SourceOfValidation>
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+            <Symbol>SDHD</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000204370</Reference>
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+                <Reference>10683</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O14521</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205138</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>HGNC</Source>
+                <Reference>33848</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613920</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86WW8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24549041[PMID]_25339201[PMID]</SourceOfValidation>
+          <Gene id="23136">
+            <Name lang="en">cytochrome c oxidase assembly factor 6</Name>
+            <Symbol>COA6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168275</Reference>
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+              <ExternalReference id="95269">
+                <Source>Genatlas</Source>
+                <Reference>C1orf31</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18025</Reference>
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+              <ExternalReference id="95268">
+                <Source>OMIM</Source>
+                <Reference>614772</Reference>
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+              <ExternalReference id="95270">
+                <Source>SwissProt</Source>
+                <Reference>Q5JTJ3</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q5JTJ3</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3378">
+      <OrphaCode>1460</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1460</ExpertLink>
+      <Name lang="en">Isolated complex III deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="11">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17403714[PMID]_19162478[PMID]_25914718[PMID]</SourceOfValidation>
+          <Gene id="15366">
+            <Name lang="en">BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone</Name>
+            <Symbol>BCS1L</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BCS</Synonym>
+              <Synonym lang="en">BJS</Synonym>
+              <Synonym lang="en">Bjornstad syndrome</Synonym>
+              <Synonym lang="en">GRACILE syndrome</Synonym>
+              <Synonym lang="en">Hs.6719</Synonym>
+              <Synonym lang="en">h-BCS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58574">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074582</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BCS1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1020</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y276</Reference>
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+                <Reference>Q9Y276</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20862300[PMID]_25914718[PMID]</SourceOfValidation>
+          <Gene id="16474">
+            <Name lang="en">mitochondrially encoded cytochrome b</Name>
+            <Symbol>MT-CYB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COB</Synonym>
+              <Synonym lang="en">CYTB</Synonym>
+              <Synonym lang="en">UQCR3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000198727</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-CYB</Reference>
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+                <Reference>7427</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516020</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P00156</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18439546[PMID]_25914718[PMID]</SourceOfValidation>
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+            <Name lang="en">ubiquinol-cytochrome c reductase complex III subunit VII</Name>
+            <Symbol>UQCRQ</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">QP-C</Synonym>
+              <Synonym lang="en">UQCR7</Synonym>
+              <Synonym lang="en">complex III subunit 8</Synonym>
+              <Synonym lang="en">ubiquinol-cytochrome c reductase, complex III subunit VII</Synonym>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>UQCRQ</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14949</Reference>
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+            <Symbol>UQCRB</Symbol>
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+              <Synonym lang="en">QP-C</Synonym>
+              <Synonym lang="en">UQCR6</Synonym>
+              <Synonym lang="en">cytochrome b-c1 complex subunit 7</Synonym>
+              <Synonym lang="en">ubiquinol-cytochrome c reductase, complex III subunit VI</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000156467</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000169021</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P47985</Reference>
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+                <Reference>191327</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P47985</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>UQCRFS1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>851</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=851</ExpertLink>
+      <Name lang="en">Paris-Trousseau thrombocytopenia</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>7703487[PMID]_22775407[PMID]</SourceOfValidation>
+          <Gene id="16056">
+            <Name lang="en">Fli-1 proto-oncogene, ETS transcription factor</Name>
+            <Symbol>FLI1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EWSR2</Synonym>
+              <Synonym lang="en">SIC-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
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+              <ExternalReference id="37460">
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+                <Reference>FLI1</Reference>
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+                <Reference>3749</Reference>
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+      <OrphaCode>221043</OrphaCode>
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+      <Name lang="en">Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24268661[PMID]</SourceOfValidation>
+          <Gene id="22576">
+            <Name lang="en">FAM111 trypsin like peptidase B</Name>
+            <Symbol>FAM111B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CANP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000189057</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24200</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q6SJ93</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q6SJ93</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Poikiloderma with neutropenia</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20004881[PMID]_20503306[PMID]</SourceOfValidation>
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+            <Name lang="en">U6 snRNA biogenesis phosphodiesterase 1</Name>
+            <Symbol>USB1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FLJ13154</Synonym>
+              <Synonym lang="en">HVSL motif containing 1</Synonym>
+              <Synonym lang="en">HVSL1</Synonym>
+              <Synonym lang="en">Mpn1</Synonym>
+              <Synonym lang="en">U six biogenesis 1</Synonym>
+              <Synonym lang="en">mutated in poikiloderma with neutropenia protein 1</Synonym>
+              <Synonym lang="en">poikiloderma with neutropenia</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57318">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103005</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HVSL1</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
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+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
+              <Synonym lang="en">mitochondrially encoded ATP synthase membrane subunit a</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198899</Reference>
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+            <Name lang="en">nucleoporin 62</Name>
+            <Symbol>NUP62</Symbol>
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+              <Synonym lang="en">FLJ20822</Synonym>
+              <Synonym lang="en">FLJ43869</Synonym>
+              <Synonym lang="en">IBSN</Synonym>
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+              <Synonym lang="en">SNDI</Synonym>
+              <Synonym lang="en">nuclear pore glycoprotein p62</Synonym>
+              <Synonym lang="en">p62</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Hemochromatosis type 3</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transferrin receptor 2</Name>
+            <Symbol>TFR2</Symbol>
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+              <Synonym lang="en">HFE3</Synonym>
+              <Synonym lang="en">TFRC2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9UP52</Reference>
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+                <Reference>ENSG00000106327</Reference>
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+      <Name lang="en">Fowler vasculopathy</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPI3</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>22184408[PMID]</SourceOfValidation>
+          <Gene id="19052">
+            <Name lang="en">unc-119 lipid binding chaperone</Name>
+            <Symbol>UNC119</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HRG4</Synonym>
+              <Synonym lang="en">POC7</Synonym>
+              <Synonym lang="en">POC7 centriolar protein homolog A (Chlamydomonas)</Synonym>
+              <Synonym lang="en">POC7A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190470">
+                <Source>IUPHAR</Source>
+                <Reference>3011</Reference>
+              </ExternalReference>
+              <ExternalReference id="58123">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109103</Reference>
+              </ExternalReference>
+              <ExternalReference id="45390">
+                <Source>Genatlas</Source>
+                <Reference>UNC119</Reference>
+              </ExternalReference>
+              <ExternalReference id="45391">
+                <Source>HGNC</Source>
+                <Reference>12565</Reference>
+              </ExternalReference>
+              <ExternalReference id="45392">
+                <Source>OMIM</Source>
+                <Reference>604011</Reference>
+              </ExternalReference>
+              <ExternalReference id="45393">
+                <Source>SwissProt</Source>
+                <Reference>Q13432</Reference>
+              </ExternalReference>
+              <ExternalReference id="142938">
+                <Source>Reactome</Source>
+                <Reference>Q13432</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60349">
+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3762">
+      <OrphaCode>842</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=842</ExpertLink>
+      <Name lang="en">Testicular seminomatous germ cell tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14695343[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
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+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19058">
+      <OrphaCode>227976</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=227976</ExpertLink>
+      <Name lang="en">Autosomal recessive optic atrophy, OPA7 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19327736[PMID]_22815638[PMID]</SourceOfValidation>
+          <Gene id="19218">
+            <Name lang="en">transmembrane protein 126A</Name>
+            <Symbol>TMEM126A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZp586C1924</Synonym>
+              <Synonym lang="en">OPA7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60366">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171202</Reference>
+              </ExternalReference>
+              <ExternalReference id="46342">
+                <Source>Genatlas</Source>
+                <Reference>TMEM126A</Reference>
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+              <ExternalReference id="46341">
+                <Source>HGNC</Source>
+                <Reference>25382</Reference>
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+              <ExternalReference id="46344">
+                <Source>OMIM</Source>
+                <Reference>612988</Reference>
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+              <ExternalReference id="46343">
+                <Source>SwissProt</Source>
+                <Reference>Q9H061</Reference>
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+              <Locus id="11069">
+                <GeneLocus>11q14.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19056">
+      <OrphaCode>227796</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=227796</ExpertLink>
+      <Name lang="en">Fundus albipunctatus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation/>
+          <Gene id="15152">
+            <Name lang="en">peripherin 2</Name>
+            <Symbol>PRPH2</Symbol>
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+              <Synonym lang="en">CACD2</Synonym>
+              <Synonym lang="en">TSPAN22</Synonym>
+              <Synonym lang="en">rd2</Synonym>
+              <Synonym lang="en">retinal peripherin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57556">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112619</Reference>
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+              <ExternalReference id="36703">
+                <Source>Genatlas</Source>
+                <Reference>PRPH2</Reference>
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+              <ExternalReference id="25158">
+                <Source>HGNC</Source>
+                <Reference>9942</Reference>
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+              <ExternalReference id="25157">
+                <Source>OMIM</Source>
+                <Reference>179605</Reference>
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+              <ExternalReference id="33263">
+                <Source>SwissProt</Source>
+                <Reference>P23942</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22736946[PMID]_25820994[PMID]</SourceOfValidation>
+          <Gene id="15195">
+            <Name lang="en">retinol dehydrogenase 5</Name>
+            <Symbol>RDH5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HSD17B9</Synonym>
+              <Synonym lang="en">SDR9C5</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 9C, member 5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135437</Reference>
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+              <ExternalReference id="25360">
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+                <Reference>9940</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21447491[PMID]</SourceOfValidation>
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+            <Symbol>RLBP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140522</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">mitogen-activated protein kinase kinase 1</Name>
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+            <GeneType id="25993">
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+            <Name lang="en">MYC proto-oncogene, bHLH transcription factor</Name>
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+              <Synonym lang="en">bHLHe39</Synonym>
+              <Synonym lang="en">c-Myc</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136997</Reference>
+              </ExternalReference>
+              <ExternalReference id="37265">
+                <Source>Genatlas</Source>
+                <Reference>MYC</Reference>
+              </ExternalReference>
+              <ExternalReference id="37266">
+                <Source>HGNC</Source>
+                <Reference>7553</Reference>
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+              <ExternalReference id="37268">
+                <Source>OMIM</Source>
+                <Reference>190080</Reference>
+              </ExternalReference>
+              <ExternalReference id="58721">
+                <Source>Reactome</Source>
+                <Reference>P01106</Reference>
+              </ExternalReference>
+              <ExternalReference id="37267">
+                <Source>SwissProt</Source>
+                <Reference>P01106</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21635">
+                <GeneLocus>8q24.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3759">
+      <OrphaCode>319</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319</ExpertLink>
+      <Name lang="en">Skeletal Ewing sarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15993">
+            <Name lang="en">ETS transcription factor ERG</Name>
+            <Symbol>ERG</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ETS-related gene</Synonym>
+              <Synonym lang="en">TMPRSS2-ERG prostate cancer specific</Synonym>
+              <Synonym lang="en">erg-3</Synonym>
+              <Synonym lang="en">p55</Synonym>
+              <Synonym lang="en">transcriptional regulator ERG (transforming protein ERG)</Synonym>
+              <Synonym lang="en">v-ets erythroblastosis virus E26 oncogene like</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143206">
+                <Source>Reactome</Source>
+                <Reference>P11308</Reference>
+              </ExternalReference>
+              <ExternalReference id="58732">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157554</Reference>
+              </ExternalReference>
+              <ExternalReference id="37450">
+                <Source>Genatlas</Source>
+                <Reference>ERG</Reference>
+              </ExternalReference>
+              <ExternalReference id="29176">
+                <Source>HGNC</Source>
+                <Reference>3446</Reference>
+              </ExternalReference>
+              <ExternalReference id="29175">
+                <Source>OMIM</Source>
+                <Reference>165080</Reference>
+              </ExternalReference>
+              <ExternalReference id="33007">
+                <Source>SwissProt</Source>
+                <Reference>P11308</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16000">
+            <Name lang="en">ETS variant transcription factor 1</Name>
+            <Symbol>ETV1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ER81</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143354">
+                <Source>Reactome</Source>
+                <Reference>P50549</Reference>
+              </ExternalReference>
+              <ExternalReference id="33014">
+                <Source>SwissProt</Source>
+                <Reference>P50549</Reference>
+              </ExternalReference>
+              <ExternalReference id="58730">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006468</Reference>
+              </ExternalReference>
+              <ExternalReference id="37453">
+                <Source>Genatlas</Source>
+                <Reference>ETV1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29208">
+                <Source>HGNC</Source>
+                <Reference>3490</Reference>
+              </ExternalReference>
+              <ExternalReference id="29207">
+                <Source>OMIM</Source>
+                <Reference>600541</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38425">
+                <GeneLocus>7p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16003">
+            <Name lang="en">EWS RNA binding protein 1</Name>
+            <Symbol>EWSR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EWS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143993">
+                <Source>Reactome</Source>
+                <Reference>Q01844</Reference>
+              </ExternalReference>
+              <ExternalReference id="58731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182944</Reference>
+              </ExternalReference>
+              <ExternalReference id="37029">
+                <Source>Genatlas</Source>
+                <Reference>EWSR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29221">
+                <Source>HGNC</Source>
+                <Reference>3508</Reference>
+              </ExternalReference>
+              <ExternalReference id="29220">
+                <Source>OMIM</Source>
+                <Reference>133450</Reference>
+              </ExternalReference>
+              <ExternalReference id="33017">
+                <Source>SwissProt</Source>
+                <Reference>Q01844</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>22q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16056">
+            <Name lang="en">Fli-1 proto-oncogene, ETS transcription factor</Name>
+            <Symbol>FLI1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EWSR2</Synonym>
+              <Synonym lang="en">SIC-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143831">
+                <Source>Reactome</Source>
+                <Reference>Q01543</Reference>
+              </ExternalReference>
+              <ExternalReference id="58588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
+              </ExternalReference>
+              <ExternalReference id="37460">
+                <Source>Genatlas</Source>
+                <Reference>FLI1</Reference>
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+              <ExternalReference id="29498">
+                <Source>HGNC</Source>
+                <Reference>3749</Reference>
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+              <ExternalReference id="29497">
+                <Source>OMIM</Source>
+                <Reference>193067</Reference>
+              </ExternalReference>
+              <ExternalReference id="33071">
+                <Source>SwissProt</Source>
+                <Reference>Q01543</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39125">
+                <GeneLocus>11q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19247">
+            <Name lang="en">ETS variant transcription factor 4</Name>
+            <Symbol>ETV4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">E1A enhancer binding protein</Synonym>
+              <Synonym lang="en">E1A-F</Synonym>
+              <Synonym lang="en">E1AF</Synonym>
+              <Synonym lang="en">PEA3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58729">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175832</Reference>
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+              <ExternalReference id="46839">
+                <Source>Genatlas</Source>
+                <Reference>ETV4</Reference>
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+              <ExternalReference id="46838">
+                <Source>HGNC</Source>
+                <Reference>3493</Reference>
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+              <ExternalReference id="46841">
+                <Source>OMIM</Source>
+                <Reference>600711</Reference>
+              </ExternalReference>
+              <ExternalReference id="97295">
+                <Source>Reactome</Source>
+                <Reference>P43268</Reference>
+              </ExternalReference>
+              <ExternalReference id="46840">
+                <Source>SwissProt</Source>
+                <Reference>P43268</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16837">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19054">
+      <OrphaCode>227535</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=227535</ExpertLink>
+      <Name lang="en">Hereditary breast cancer</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32322110[PMID]</SourceOfValidation>
+          <Gene id="15419">
+            <Name lang="en">cadherin 1</Name>
+            <Symbol>CDH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD324</Synonym>
+              <Synonym lang="en">E-Cadherin</Synonym>
+              <Synonym lang="en">uvomorulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000039068</Reference>
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+              <ExternalReference id="26429">
+                <Source>Genatlas</Source>
+                <Reference>CDH1</Reference>
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+              <ExternalReference id="26427">
+                <Source>HGNC</Source>
+                <Reference>1748</Reference>
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+              <ExternalReference id="26426">
+                <Source>OMIM</Source>
+                <Reference>192090</Reference>
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+              <ExternalReference id="58919">
+                <Source>Reactome</Source>
+                <Reference>P12830</Reference>
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+              <ExternalReference id="32387">
+                <Source>SwissProt</Source>
+                <Reference>P12830</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">BRCA1 DNA repair associated</Name>
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+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
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+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
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+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
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+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
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+              <ExternalReference id="33934">
+                <Source>SwissProt</Source>
+                <Reference>P38398</Reference>
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+            <LocusList count="1">
+              <Locus id="14119">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9609997[PMID]_10323242[PMID]_12442275[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
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+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
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+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33935">
+                <Source>SwissProt</Source>
+                <Reference>P51587</Reference>
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+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
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+              <ExternalReference id="26230">
+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
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+              <ExternalReference id="57416">
+                <Source>Reactome</Source>
+                <Reference>P51587</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25099575[PMID]</SourceOfValidation>
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+            <Name lang="en">partner and localizer of BRCA2</Name>
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+              <Synonym lang="en">FANCN</Synonym>
+              <Synonym lang="en">FLJ21816</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group N</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57437">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083093</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>610355</Reference>
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+              <ExternalReference id="57438">
+                <Source>Reactome</Source>
+                <Reference>Q86YC2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86YC2</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22464251[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>12829</Reference>
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+              <ExternalReference id="61884">
+                <Source>OMIM</Source>
+                <Reference>600375</Reference>
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+              <ExternalReference id="97323">
+                <Source>Reactome</Source>
+                <Reference>O43543</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43543</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196584</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">killin, p53 regulated DNA replication inhibitor</Name>
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+              <Synonym lang="en">killin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000227268</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>612105</Reference>
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+              <ExternalReference id="77146">
+                <Source>SwissProt</Source>
+                <Reference>B2CW77</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="23353">
+            <Name lang="en">RAD54 like</Name>
+            <Symbol>RAD54L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RAD54A</Synonym>
+              <Synonym lang="en">hHR54</Synonym>
+              <Synonym lang="en">hRAD54</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="96256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085999</Reference>
+              </ExternalReference>
+              <ExternalReference id="96254">
+                <Source>Genatlas</Source>
+                <Reference>RAD54L</Reference>
+              </ExternalReference>
+              <ExternalReference id="96253">
+                <Source>HGNC</Source>
+                <Reference>9826</Reference>
+              </ExternalReference>
+              <ExternalReference id="96257">
+                <Source>OMIM</Source>
+                <Reference>603615</Reference>
+              </ExternalReference>
+              <ExternalReference id="96255">
+                <Source>SwissProt</Source>
+                <Reference>Q92698</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25641">
+                <GeneLocus>1p34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="23354">
+            <Name lang="en">protein phosphatase, Mg2+/Mn2+ dependent 1D</Name>
+            <Symbol>PPM1D</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PP2C-DELTA</Synonym>
+              <Synonym lang="en">Wip1</Synonym>
+              <Synonym lang="en">protein phosphatase 2C, delta isoform</Synonym>
+              <Synonym lang="en">wild-type p53-induced phosphatase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190615">
+                <Source>IUPHAR</Source>
+                <Reference>3134</Reference>
+              </ExternalReference>
+              <ExternalReference id="143491">
+                <Source>Reactome</Source>
+                <Reference>O15297</Reference>
+              </ExternalReference>
+              <ExternalReference id="96262">
+                <Source>SwissProt</Source>
+                <Reference>O15297</Reference>
+              </ExternalReference>
+              <ExternalReference id="96263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170836</Reference>
+              </ExternalReference>
+              <ExternalReference id="96261">
+                <Source>Genatlas</Source>
+                <Reference>PPM1D</Reference>
+              </ExternalReference>
+              <ExternalReference id="96259">
+                <Source>HGNC</Source>
+                <Reference>9277</Reference>
+              </ExternalReference>
+              <ExternalReference id="96260">
+                <Source>OMIM</Source>
+                <Reference>605100</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60639">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="23355">
+            <Name lang="en">solute carrier family 22 member 18</Name>
+            <Symbol>SLC22A18</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BWR1A</Synonym>
+              <Synonym lang="en">ITM</Synonym>
+              <Synonym lang="en">TSSC5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96270">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110628</Reference>
+              </ExternalReference>
+              <ExternalReference id="96267">
+                <Source>Genatlas</Source>
+                <Reference>SLC22A18</Reference>
+              </ExternalReference>
+              <ExternalReference id="96265">
+                <Source>HGNC</Source>
+                <Reference>10964</Reference>
+              </ExternalReference>
+              <ExternalReference id="96271">
+                <Source>IUPHAR</Source>
+                <Reference>1036</Reference>
+              </ExternalReference>
+              <ExternalReference id="96266">
+                <Source>OMIM</Source>
+                <Reference>602631</Reference>
+              </ExternalReference>
+              <ExternalReference id="96269">
+                <Source>Reactome</Source>
+                <Reference>Q96BI1</Reference>
+              </ExternalReference>
+              <ExternalReference id="96268">
+                <Source>SwissProt</Source>
+                <Reference>Q96BI1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22781">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3758">
+      <OrphaCode>668</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=668</ExpertLink>
+      <Name lang="en">Osteosarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11746983[PMID]</SourceOfValidation>
+          <Gene id="15444">
+            <Name lang="en">checkpoint kinase 2</Name>
+            <Symbol>CHEK2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDS1</Synonym>
+              <Synonym lang="en">CHK2</Synonym>
+              <Synonym lang="en">HuCds1</Synonym>
+              <Synonym lang="en">PP1425</Synonym>
+              <Synonym lang="en">bA444G7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183765</Reference>
+              </ExternalReference>
+              <ExternalReference id="26546">
+                <Source>Genatlas</Source>
+                <Reference>CHEK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26548">
+                <Source>HGNC</Source>
+                <Reference>16627</Reference>
+              </ExternalReference>
+              <ExternalReference id="82809">
+                <Source>IUPHAR</Source>
+                <Reference>1988</Reference>
+              </ExternalReference>
+              <ExternalReference id="26547">
+                <Source>OMIM</Source>
+                <Reference>604373</Reference>
+              </ExternalReference>
+              <ExternalReference id="56953">
+                <Source>Reactome</Source>
+                <Reference>O96017</Reference>
+              </ExternalReference>
+              <ExternalReference id="32413">
+                <Source>SwissProt</Source>
+                <Reference>O96017</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7419">
+                <GeneLocus>22q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11449317[PMID]</SourceOfValidation>
+          <Gene id="15191">
+            <Name lang="en">RB transcriptional corepressor 1</Name>
+            <Symbol>RB1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PPP1R130</Synonym>
+              <Synonym lang="en">RB</Synonym>
+              <Synonym lang="en">prepro-retinoblastoma-associated protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 130</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33715">
+                <Source>SwissProt</Source>
+                <Reference>P06400</Reference>
+              </ExternalReference>
+              <ExternalReference id="56836">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139687</Reference>
+              </ExternalReference>
+              <ExternalReference id="25345">
+                <Source>Genatlas</Source>
+                <Reference>RB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25343">
+                <Source>HGNC</Source>
+                <Reference>9884</Reference>
+              </ExternalReference>
+              <ExternalReference id="51803">
+                <Source>OMIM</Source>
+                <Reference>614041</Reference>
+              </ExternalReference>
+              <ExternalReference id="56837">
+                <Source>Reactome</Source>
+                <Reference>P06400</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="6947">
+                <GeneLocus>13q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8401536[PMID]_2823272[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56954">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
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+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
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+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
+              </ExternalReference>
+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7791">
+                <GeneLocus>17p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2823272[PMID]_1349175[PMID]_8401536[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56954">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
+              </ExternalReference>
+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
+              </ExternalReference>
+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
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+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
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+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19053">
+      <OrphaCode>227510</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=227510</ExpertLink>
+      <Name lang="en">Multiple system atrophy, cerebellar type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23758206[PMID]</SourceOfValidation>
+          <Gene id="15788">
+            <Name lang="en">coenzyme Q2, polyprenyltransferase</Name>
+            <Symbol>COQ2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">4-hydroxybenzoate polyprenyltransferase</Synonym>
+              <Synonym lang="en">CL640</Synonym>
+              <Synonym lang="en">FLJ26072</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173085</Reference>
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+              <ExternalReference id="28191">
+                <Source>Genatlas</Source>
+                <Reference>COQ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28193">
+                <Source>HGNC</Source>
+                <Reference>25223</Reference>
+              </ExternalReference>
+              <ExternalReference id="28192">
+                <Source>OMIM</Source>
+                <Reference>609825</Reference>
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+              <ExternalReference id="60079">
+                <Source>Reactome</Source>
+                <Reference>Q96H96</Reference>
+              </ExternalReference>
+              <ExternalReference id="32760">
+                <Source>SwissProt</Source>
+                <Reference>Q96H96</Reference>
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+                <GeneLocus>4q21.23</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3734">
+      <OrphaCode>2030</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2030</ExpertLink>
+      <Name lang="en">Fibrosarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16866">
+            <Name lang="en">ETS variant transcription factor 6</Name>
+            <Symbol>ETV6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEL</Synonym>
+              <Synonym lang="en">TEL oncogene</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142917">
+                <Source>Reactome</Source>
+                <Reference>P41212</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ETV6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3495</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600618</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P41212</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="19504">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 3</Name>
+            <Symbol>NTRK3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRKC</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140538</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8033</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1819</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q16288</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Solitary fibrous tumor/hemangiopericytoma</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">IL-4-STAT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166888</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>STAT6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11368</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601512</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P42226</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2993</Reference>
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+              <Locus id="66793">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23313952[PMID]_23313954[PMID]</SourceOfValidation>
+          <Gene id="21865">
+            <Name lang="en">NGFI-A binding protein 2</Name>
+            <Symbol>NAB2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EGR1 binding protein 2</Synonym>
+              <Synonym lang="en">MADER</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83662">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166886</Reference>
+              </ExternalReference>
+              <ExternalReference id="77077">
+                <Source>Genatlas</Source>
+                <Reference>NAB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="77075">
+                <Source>HGNC</Source>
+                <Reference>7627</Reference>
+              </ExternalReference>
+              <ExternalReference id="77076">
+                <Source>OMIM</Source>
+                <Reference>602381</Reference>
+              </ExternalReference>
+              <ExternalReference id="77078">
+                <Source>SwissProt</Source>
+                <Reference>Q15742</Reference>
+              </ExternalReference>
+              <ExternalReference id="143077">
+                <Source>Reactome</Source>
+                <Reference>Q15742</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37871">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3728">
+      <OrphaCode>758</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=758</ExpertLink>
+      <Name lang="en">Pseudoxanthoma elasticum</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20032990[PMID]_20301292[PMID]</SourceOfValidation>
+          <Gene id="15055">
+            <Name lang="en">ATP binding cassette subfamily C member 6</Name>
+            <Symbol>ABCC6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EST349056</Synonym>
+              <Synonym lang="en">MLP1</Synonym>
+              <Synonym lang="en">MRP6</Synonym>
+              <Synonym lang="en">URG7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193567">
+                <Source>IUPHAR</Source>
+                <Reference>784</Reference>
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+              <ExternalReference id="58710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091262</Reference>
+              </ExternalReference>
+              <ExternalReference id="24688">
+                <Source>Genatlas</Source>
+                <Reference>ABCC6</Reference>
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+              <ExternalReference id="24686">
+                <Source>HGNC</Source>
+                <Reference>57</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603234</Reference>
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+              <ExternalReference id="58711">
+                <Source>Reactome</Source>
+                <Reference>O95255</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95255</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25615550[PMID]</SourceOfValidation>
+          <Gene id="15981">
+            <Name lang="en">ectonucleotide pyrophosphatase/phosphodiesterase 1</Name>
+            <Symbol>ENPP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PC-1</Synonym>
+              <Synonym lang="en">PCA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197594</Reference>
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+              <ExternalReference id="29102">
+                <Source>Genatlas</Source>
+                <Reference>ENPP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3356</Reference>
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+                <Source>OMIM</Source>
+                <Reference>173335</Reference>
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+              <ExternalReference id="59108">
+                <Source>Reactome</Source>
+                <Reference>P22413</Reference>
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+              <ExternalReference id="32993">
+                <Source>SwissProt</Source>
+                <Reference>P22413</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6q23.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3729">
+      <OrphaCode>419</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=419</ExpertLink>
+      <Name lang="en">Hyperprolinemia type 1</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20524212[PMID]_23462603[PMID]</SourceOfValidation>
+          <Gene id="15144">
+            <Name lang="en">proline dehydrogenase 1</Name>
+            <Symbol>PRODH</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HSPOX2</Synonym>
+              <Synonym lang="en">PIG6</Synonym>
+              <Synonym lang="en">PRODH1</Synonym>
+              <Synonym lang="en">PRODH2</Synonym>
+              <Synonym lang="en">TP53I6</Synonym>
+              <Synonym lang="en">proline oxidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56997">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100033</Reference>
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+              <ExternalReference id="37321">
+                <Source>Genatlas</Source>
+                <Reference>PRODH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9453</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606810</Reference>
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+              <ExternalReference id="56998">
+                <Source>Reactome</Source>
+                <Reference>O43272</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43272</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Adrenocortical carcinoma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11600572[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
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+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25490274[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
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+              <Synonym lang="en">LFS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141510</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+          <SourceOfValidation>24747642[PMID]</SourceOfValidation>
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+            <Name lang="en">zinc and ring finger 3</Name>
+            <Symbol>ZNRF3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183579</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24747642[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
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+              <Synonym lang="en">p16INK4a</Synonym>
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+              <Synonym lang="en">Carney complex type 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P10644</Reference>
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+              <ExternalReference id="33250">
+                <Source>SwissProt</Source>
+                <Reference>P10644</Reference>
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+            <LocusList count="1">
+              <Locus id="6847">
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19036">
+      <OrphaCode>226316</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=226316</ExpertLink>
+      <Name lang="en">Genetic transient congenital hypothyroidism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25248169[PMID]</SourceOfValidation>
+          <Gene id="15900">
+            <Name lang="en">dual oxidase 2</Name>
+            <Symbol>DUOX2</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">LNOX2</Synonym>
+              <Synonym lang="en">NADH/NADPH thyroid oxidase p138-tox</Synonym>
+              <Synonym lang="en">NADPH oxidase/peroxidase DUOX2</Synonym>
+              <Synonym lang="en">NADPH thyroid oxidase 2</Synonym>
+              <Synonym lang="en">P138(TOX)</Synonym>
+              <Synonym lang="en">P138-TOX</Synonym>
+              <Synonym lang="en">THOX2</Synonym>
+              <Synonym lang="en">dual oxidase-like domains 2</Synonym>
+              <Synonym lang="en">flavoprotein NADPH oxidase</Synonym>
+              <Synonym lang="en">nicotinamide adenine dinucleotide phosphate oxidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140279</Reference>
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+              <ExternalReference id="28720">
+                <Source>Genatlas</Source>
+                <Reference>DUOX2</Reference>
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+              <ExternalReference id="28718">
+                <Source>HGNC</Source>
+                <Reference>13273</Reference>
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+              <ExternalReference id="28717">
+                <Source>OMIM</Source>
+                <Reference>606759</Reference>
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+              <ExternalReference id="97204">
+                <Source>Reactome</Source>
+                <Reference>Q9NRD8</Reference>
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+              <ExternalReference id="32913">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRD8</Reference>
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+              <ExternalReference id="193609">
+                <Source>IUPHAR</Source>
+                <Reference>2999</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>226307</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=226307</ExpertLink>
+      <Name lang="en">Hypothyroidism due to deficient transcription factors involved in pituitary development or function</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_22851492[PMID]</SourceOfValidation>
+          <Gene id="15125">
+            <Name lang="en">POU class 1 homeobox 1</Name>
+            <Symbol>POU1F1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GHF-1</Synonym>
+              <Synonym lang="en">PIT-1</Synonym>
+              <Synonym lang="en">POU1F1a</Synonym>
+              <Synonym lang="en">growth hormone factor 1</Synonym>
+              <Synonym lang="en">pituitary transcript factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59762">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064835</Reference>
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+              <ExternalReference id="25029">
+                <Source>Genatlas</Source>
+                <Reference>POU1F1</Reference>
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+              <ExternalReference id="25031">
+                <Source>HGNC</Source>
+                <Reference>9210</Reference>
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+              <ExternalReference id="25030">
+                <Source>OMIM</Source>
+                <Reference>173110</Reference>
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+              <ExternalReference id="33236">
+                <Source>SwissProt</Source>
+                <Reference>P28069</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_22851492[PMID]</SourceOfValidation>
+          <Gene id="15147">
+            <Name lang="en">PROP paired-like homeobox 1</Name>
+            <Symbol>PROP1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143039">
+                <Source>Reactome</Source>
+                <Reference>O75360</Reference>
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+              <ExternalReference id="59636">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175325</Reference>
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+              <ExternalReference id="25135">
+                <Source>Genatlas</Source>
+                <Reference>PROP1</Reference>
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+              <ExternalReference id="25133">
+                <Source>HGNC</Source>
+                <Reference>9455</Reference>
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+              <ExternalReference id="25132">
+                <Source>OMIM</Source>
+                <Reference>601538</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75360</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_22851492[PMID]</SourceOfValidation>
+          <Gene id="16192">
+            <Name lang="en">HESX homeobox 1</Name>
+            <Symbol>HESX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ANF</Synonym>
+              <Synonym lang="en">RPX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143259">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX0</Reference>
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+              <ExternalReference id="58337">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163666</Reference>
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+              <ExternalReference id="30152">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4877</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UBX0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_22851492[PMID]</SourceOfValidation>
+          <Gene id="16355">
+            <Name lang="en">LIM homeobox 3</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>6595</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600577</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UBR4</Reference>
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+              <ExternalReference id="60364">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107187</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_22851492[PMID]</SourceOfValidation>
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+            <Name lang="en">LIM homeobox 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143913">
+                <Source>Reactome</Source>
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+              <ExternalReference id="59465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121454</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q969G2</Reference>
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+      <Name lang="en">Synovial sarcoma</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58715">
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+                <Reference>ENSG00000141380</Reference>
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+              <ExternalReference id="36375">
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+                <Source>HGNC</Source>
+                <Reference>11340</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="17219">
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+              <Synonym lang="en">MGC3884</Synonym>
+              <Synonym lang="en">cancer/testis antigen family 5, member 2a</Synonym>
+              <Synonym lang="en">sarcoma, synovial, X-chromosome-related 2</Synonym>
+              <Synonym lang="en">synovial sarcoma, X breakpoint 2, isoform b</Synonym>
+              <Synonym lang="en">synovial sarcoma, X breakpoint 2B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <Gene id="16059">
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+              <Synonym lang="en">beta filamin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136068</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O75369</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Megalencephalic leukoencephalopathy with subcortical cysts</Name>
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+              <Synonym lang="en">KIAA0027</Synonym>
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+              <Synonym lang="en">MLC</Synonym>
+              <Synonym lang="en">VL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58700">
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+                <Reference>ENSG00000100427</Reference>
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+              <ExternalReference id="31159">
+                <Source>Genatlas</Source>
+                <Reference>MLC1</Reference>
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+              <ExternalReference id="31161">
+                <Source>HGNC</Source>
+                <Reference>17082</Reference>
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+              <ExternalReference id="31160">
+                <Source>OMIM</Source>
+                <Reference>605908</Reference>
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+              <ExternalReference id="33470">
+                <Source>SwissProt</Source>
+                <Reference>Q15049</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301707[PMID]</SourceOfValidation>
+          <Gene id="20101">
+            <Name lang="en">hepatic and glial cell adhesion molecule</Name>
+            <Symbol>HEPACAM</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ25530</Synonym>
+              <Synonym lang="en">GLIALCAM</Synonym>
+              <Synonym lang="en">glial cell adhesion molecule</Synonym>
+              <Synonym lang="en">hepaCAM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165478</Reference>
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+              <ExternalReference id="51314">
+                <Source>Genatlas</Source>
+                <Reference>HEPACAM</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26361</Reference>
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+              <ExternalReference id="51313">
+                <Source>OMIM</Source>
+                <Reference>611642</Reference>
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+              <ExternalReference id="51315">
+                <Source>SwissProt</Source>
+                <Reference>Q14CZ8</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Primary Fanconi renotubular syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17357">
+            <Name lang="en">enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase</Name>
+            <Symbol>EHHADH</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="59091">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113790</Reference>
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+              <ExternalReference id="37004">
+                <Source>Genatlas</Source>
+                <Reference>EHHADH</Reference>
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+              <ExternalReference id="37005">
+                <Source>HGNC</Source>
+                <Reference>3247</Reference>
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+              <ExternalReference id="37006">
+                <Source>OMIM</Source>
+                <Reference>607037</Reference>
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+              <ExternalReference id="37007">
+                <Source>SwissProt</Source>
+                <Reference>Q08426</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29654216[PMID]</SourceOfValidation>
+          <Gene id="16105">
+            <Name lang="en">glycine amidinotransferase</Name>
+            <Symbol>GATM</Symbol>
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+              <Synonym lang="en">AGAT</Synonym>
+              <Synonym lang="en">L-arginine:glycine amidinotransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193606">
+                <Source>IUPHAR</Source>
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+              <ExternalReference id="59019">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171766</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GATM</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P50440</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50440</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20335586[PMID]</SourceOfValidation>
+          <Gene id="19050">
+            <Name lang="en">solute carrier family 34 member 1</Name>
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+              <Synonym lang="en">NAPI-3</Synonym>
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+              <Synonym lang="en">Na+-phosphate cotransporter type II</Synonym>
+              <Synonym lang="en">SLC11</Synonym>
+              <Synonym lang="en">sodium/phosphate co-transporter</Synonym>
+              <Synonym lang="en">solute carrier family 17 (sodium phosphate), member 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1135</Reference>
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+              <ExternalReference id="58708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131183</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC34A1</Reference>
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+              <ExternalReference id="45375">
+                <Source>HGNC</Source>
+                <Reference>11019</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58709">
+                <Source>Reactome</Source>
+                <Reference>Q06495</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q06495</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 6</Name>
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+              <Synonym lang="en">MGC40214</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000156170</Reference>
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+              <ExternalReference id="82563">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97272">
+                <Source>Reactome</Source>
+                <Reference>Q330K2</Reference>
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+                <Source>SwissProt</Source>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="3726">
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+      <Name lang="en">Nephrogenic diabetes insipidus</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">arginine vasopressin receptor 2</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>368</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167580</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P41181</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P23769</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>22318203[PMID]</SourceOfValidation>
+          <Gene id="15235">
+            <Name lang="en">RUNX family transcription factor 1</Name>
+            <Symbol>RUNX1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AMLCR1</Synonym>
+              <Synonym lang="en">PEBP2A2</Synonym>
+              <Synonym lang="en">aml1 oncogene</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159216</Reference>
+              </ExternalReference>
+              <ExternalReference id="25547">
+                <Source>Genatlas</Source>
+                <Reference>RUNX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25545">
+                <Source>HGNC</Source>
+                <Reference>10471</Reference>
+              </ExternalReference>
+              <ExternalReference id="25544">
+                <Source>OMIM</Source>
+                <Reference>151385</Reference>
+              </ExternalReference>
+              <ExternalReference id="97164">
+                <Source>Reactome</Source>
+                <Reference>Q01196</Reference>
+              </ExternalReference>
+              <ExternalReference id="33793">
+                <Source>SwissProt</Source>
+                <Reference>Q01196</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23801">
+                <GeneLocus>21q22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19128">
+      <OrphaCode>228415</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228415</ExpertLink>
+      <Name lang="en">5q35 microduplication syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24819041[PMID]</SourceOfValidation>
+          <Gene id="16577">
+            <Name lang="en">nuclear receptor binding SET domain protein 1</Name>
+            <Symbol>NSD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ARA267</Synonym>
+              <Synonym lang="en">FLJ22263</Synonym>
+              <Synonym lang="en">KMT3B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190384">
+                <Source>IUPHAR</Source>
+                <Reference>2696</Reference>
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+              <ExternalReference id="57400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165671</Reference>
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+              <ExternalReference id="31955">
+                <Source>Genatlas</Source>
+                <Reference>NSD1</Reference>
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+              <ExternalReference id="31953">
+                <Source>HGNC</Source>
+                <Reference>14234</Reference>
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+              <ExternalReference id="31952">
+                <Source>OMIM</Source>
+                <Reference>606681</Reference>
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+              <ExternalReference id="97245">
+                <Source>Reactome</Source>
+                <Reference>Q96L73</Reference>
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+              <ExternalReference id="33642">
+                <Source>SwissProt</Source>
+                <Reference>Q96L73</Reference>
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+            <LocusList count="1">
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3704">
+      <OrphaCode>132</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=132</ExpertLink>
+      <Name lang="en">Butyrylcholinesterase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25054547[PMID]_25448037[PMID]</SourceOfValidation>
+          <Gene id="15359">
+            <Name lang="en">butyrylcholinesterase</Name>
+            <Symbol>BCHE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">E1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33916">
+                <Source>SwissProt</Source>
+                <Reference>P06276</Reference>
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+              <ExternalReference id="58691">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114200</Reference>
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+              <ExternalReference id="26140">
+                <Source>Genatlas</Source>
+                <Reference>BCHE</Reference>
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+              <ExternalReference id="26142">
+                <Source>HGNC</Source>
+                <Reference>983</Reference>
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+              <ExternalReference id="82786">
+                <Source>IUPHAR</Source>
+                <Reference>2471</Reference>
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+              <ExternalReference id="26141">
+                <Source>OMIM</Source>
+                <Reference>177400</Reference>
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+              <ExternalReference id="58692">
+                <Source>Reactome</Source>
+                <Reference>P06276</Reference>
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+                <GeneLocus>3q26.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19132">
+      <OrphaCode>228426</OrphaCode>
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+      <Name lang="en">Syndromic multisystem autoimmune disease due to Itch deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20170897[PMID]</SourceOfValidation>
+          <Gene id="19224">
+            <Name lang="en">itchy E3 ubiquitin protein ligase</Name>
+            <Symbol>ITCH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AIP4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60388">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078747</Reference>
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+              <ExternalReference id="46421">
+                <Source>Genatlas</Source>
+                <Reference>ITCH</Reference>
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+              <ExternalReference id="46422">
+                <Source>HGNC</Source>
+                <Reference>13890</Reference>
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+              <ExternalReference id="46423">
+                <Source>OMIM</Source>
+                <Reference>606409</Reference>
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+              <ExternalReference id="60389">
+                <Source>Reactome</Source>
+                <Reference>Q96J02</Reference>
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+              <ExternalReference id="46424">
+                <Source>SwissProt</Source>
+                <Reference>Q96J02</Reference>
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+                <GeneLocus>20q11.22</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Isolated Klippel-Feil syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19864492[PMID]</SourceOfValidation>
+          <Gene id="19586">
+            <Name lang="en">growth differentiation factor 3</Name>
+            <Symbol>GDF3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NR23</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184344</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GDF3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23290072[PMID]</SourceOfValidation>
+          <Gene id="21747">
+            <Name lang="en">mesenchyme homeobox 1</Name>
+            <Symbol>MEOX1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18425797[PMID]</SourceOfValidation>
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+            <Name lang="en">growth differentiation factor 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Familial pancreatic carcinoma</Name>
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+            <Name lang="en">BRCA1 DNA repair associated</Name>
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+              <Synonym lang="en">BRCC1</Synonym>
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+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">BRCA2 DNA repair associated</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">p16INK4a</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q13485</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25240578[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141510</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
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+                <Reference>191170</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25240578[PMID]</SourceOfValidation>
+          <Gene id="16312">
+            <Name lang="en">KRAS proto-oncogene, GTPase</Name>
+            <Symbol>KRAS</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133703</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20412113[PMID]_21365267[PMID]</SourceOfValidation>
+          <Gene id="16873">
+            <Name lang="en">partner and localizer of BRCA2</Name>
+            <Symbol>PALB2</Symbol>
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+              <Synonym lang="en">Fanconi anemia, complementation group N</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000083093</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000129116</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WX93</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">RAB, member of RAS oncogene family like 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Spondylo-megaepiphyseal-metaphyseal dysplasia</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <GeneLocus>4q28.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19114">
+      <OrphaCode>228363</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228363</ExpertLink>
+      <Name lang="en">CLN6 disease</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15753">
+            <Name lang="en">CLN6 transmembrane ER protein</Name>
+            <Symbol>CLN6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ20561</Synonym>
+              <Synonym lang="en">HsT18960</Synonym>
+              <Synonym lang="en">nclf</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143110">
+                <Source>Reactome</Source>
+                <Reference>Q9NWW5</Reference>
+              </ExternalReference>
+              <ExternalReference id="60375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128973</Reference>
+              </ExternalReference>
+              <ExternalReference id="28024">
+                <Source>Genatlas</Source>
+                <Reference>CLN6</Reference>
+              </ExternalReference>
+              <ExternalReference id="28022">
+                <Source>HGNC</Source>
+                <Reference>2077</Reference>
+              </ExternalReference>
+              <ExternalReference id="28021">
+                <Source>OMIM</Source>
+                <Reference>606725</Reference>
+              </ExternalReference>
+              <ExternalReference id="32725">
+                <Source>SwissProt</Source>
+                <Reference>Q9NWW5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37937">
+                <GeneLocus>15q23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19113">
+      <OrphaCode>228360</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228360</ExpertLink>
+      <Name lang="en">CLN5 disease</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15752">
+            <Name lang="en">CLN5 intracellular trafficking protein</Name>
+            <Symbol>CLN5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102805</Reference>
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+              <ExternalReference id="28016">
+                <Source>Genatlas</Source>
+                <Reference>CLN5</Reference>
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+              <ExternalReference id="28018">
+                <Source>HGNC</Source>
+                <Reference>2076</Reference>
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+              <ExternalReference id="28017">
+                <Source>OMIM</Source>
+                <Reference>608102</Reference>
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+              <ExternalReference id="32724">
+                <Source>SwissProt</Source>
+                <Reference>O75503</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18705">
+                <GeneLocus>13q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19119">
+      <OrphaCode>228384</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228384</ExpertLink>
+      <Name lang="en">5q14.3 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20513142[PMID]</SourceOfValidation>
+          <Gene id="19223">
+            <Name lang="en">myocyte enhancer factor 2C</Name>
+            <Symbol>MEF2C</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60384">
+                <Source>Reactome</Source>
+                <Reference>Q06413</Reference>
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+              <ExternalReference id="46411">
+                <Source>SwissProt</Source>
+                <Reference>Q06413</Reference>
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+              <ExternalReference id="60383">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081189</Reference>
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+              <ExternalReference id="46409">
+                <Source>Genatlas</Source>
+                <Reference>MEF2C</Reference>
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+              <ExternalReference id="46410">
+                <Source>HGNC</Source>
+                <Reference>6996</Reference>
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+              <ExternalReference id="46412">
+                <Source>OMIM</Source>
+                <Reference>600662</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q14.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19117">
+      <OrphaCode>228374</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228374</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 2B5</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20039262[PMID]</SourceOfValidation>
+          <Gene id="16537">
+            <Name lang="en">neurofilament light chain</Name>
+            <Symbol>NEFL</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMT1F</Synonym>
+              <Synonym lang="en">CMT2E</Synonym>
+              <Synonym lang="en">NF68</Synonym>
+              <Synonym lang="en">NFL</Synonym>
+              <Synonym lang="en">PPP1R110</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 110</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95168">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277586</Reference>
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+              <ExternalReference id="31764">
+                <Source>Genatlas</Source>
+                <Reference>NEFL</Reference>
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+              <ExternalReference id="31762">
+                <Source>HGNC</Source>
+                <Reference>7739</Reference>
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+              <ExternalReference id="31761">
+                <Source>OMIM</Source>
+                <Reference>162280</Reference>
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+              <ExternalReference id="59962">
+                <Source>Reactome</Source>
+                <Reference>P07196</Reference>
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+              <ExternalReference id="33602">
+                <Source>SwissProt</Source>
+                <Reference>P07196</Reference>
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+                <GeneLocus>8p21.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19107">
+      <OrphaCode>228340</OrphaCode>
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+      <Name lang="en">CLN4A disease</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
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+            <Name lang="en">CLN6 transmembrane ER protein</Name>
+            <Symbol>CLN6</Symbol>
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+              <Synonym lang="en">FLJ20561</Synonym>
+              <Synonym lang="en">HsT18960</Synonym>
+              <Synonym lang="en">nclf</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143110">
+                <Source>Reactome</Source>
+                <Reference>Q9NWW5</Reference>
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+              <ExternalReference id="60375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128973</Reference>
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+              <ExternalReference id="28024">
+                <Source>Genatlas</Source>
+                <Reference>CLN6</Reference>
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+              <ExternalReference id="28022">
+                <Source>HGNC</Source>
+                <Reference>2077</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606725</Reference>
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+              <ExternalReference id="32725">
+                <Source>SwissProt</Source>
+                <Reference>Q9NWW5</Reference>
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+              <Locus id="37937">
+                <GeneLocus>15q23</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19106">
+      <OrphaCode>228337</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228337</ExpertLink>
+      <Name lang="en">CLN10 disease</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="17343">
+            <Name lang="en">cathepsin D</Name>
+            <Symbol>CTSD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLN10</Synonym>
+              <Synonym lang="en">ceroid-lipofuscinosis, neuronal 10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117984</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTSD</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2529</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2345</Reference>
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+                <Source>OMIM</Source>
+                <Reference>116840</Reference>
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+              <ExternalReference id="83082">
+                <Source>Reactome</Source>
+                <Reference>P07339</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07339</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19105">
+      <OrphaCode>228329</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228329</ExpertLink>
+      <Name lang="en">CLN1 disease</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15132">
+            <Name lang="en">palmitoyl-protein thioesterase 1</Name>
+            <Symbol>PPT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CLN1</Synonym>
+              <Synonym lang="en">INCL</Synonym>
+              <Synonym lang="en">ceroid-lipofuscinosis, neuronal 1, infantile</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>3199</Reference>
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+              <ExternalReference id="60373">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131238</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PPT1</Reference>
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+                <Reference>9325</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600722</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P50897</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50897</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="19111">
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+      <Name lang="en">CLN8 disease</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">CLN8 transmembrane ER and ERGIC protein</Name>
+            <Symbol>CLN8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ39417</Synonym>
+              <Synonym lang="en">TLCD6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2079</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607837</Reference>
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+              <ExternalReference id="32726">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBY8</Reference>
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+              <ExternalReference id="57174">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182372</Reference>
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+              <ExternalReference id="28026">
+                <Source>Genatlas</Source>
+                <Reference>CLN8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19110">
+      <OrphaCode>228349</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228349</ExpertLink>
+      <Name lang="en">CLN2 disease</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15652">
+            <Name lang="en">tripeptidyl peptidase 1</Name>
+            <Symbol>TPP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LPIC</Synonym>
+              <Synonym lang="en">TPP I</Synonym>
+              <Synonym lang="en">TPP-1</Synonym>
+              <Synonym lang="en">lysosomal pepstatin-insensitive carboxypeptidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O14773</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166340</Reference>
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+              <ExternalReference id="37383">
+                <Source>Genatlas</Source>
+                <Reference>TPP1</Reference>
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+              <ExternalReference id="27556">
+                <Source>HGNC</Source>
+                <Reference>2073</Reference>
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+              <ExternalReference id="27555">
+                <Source>OMIM</Source>
+                <Reference>607998</Reference>
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+              <ExternalReference id="60380">
+                <Source>Reactome</Source>
+                <Reference>O14773</Reference>
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+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19109">
+      <OrphaCode>228346</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228346</ExpertLink>
+      <Name lang="en">CLN3 disease</Name>
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+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21990111[PMID]</SourceOfValidation>
+          <Gene id="15751">
+            <Name lang="en">CLN3 lysosomal/endosomal transmembrane protein, battenin</Name>
+            <Symbol>CLN3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BTN1</Synonym>
+              <Synonym lang="en">JNCL</Synonym>
+              <Synonym lang="en">juvenile neuronal ceroid lipofuscinosis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60378">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188603</Reference>
+              </ExternalReference>
+              <ExternalReference id="28014">
+                <Source>Genatlas</Source>
+                <Reference>CLN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="28012">
+                <Source>HGNC</Source>
+                <Reference>2074</Reference>
+              </ExternalReference>
+              <ExternalReference id="28011">
+                <Source>OMIM</Source>
+                <Reference>607042</Reference>
+              </ExternalReference>
+              <ExternalReference id="32723">
+                <Source>SwissProt</Source>
+                <Reference>Q13286</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25533">
+                <GeneLocus>16p12.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19108">
+      <OrphaCode>228343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228343</ExpertLink>
+      <Name lang="en">CLN4B disease</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>21820099[PMID]_22235333[PMID]_22978711[PMID]</SourceOfValidation>
+          <Gene id="20405">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C5</Name>
+            <Symbol>DNAJC5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DNAJC5A</Synonym>
+              <Synonym lang="en">FLJ00118</Synonym>
+              <Synonym lang="en">FLJ13070</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60376">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101152</Reference>
+              </ExternalReference>
+              <ExternalReference id="53979">
+                <Source>Genatlas</Source>
+                <Reference>DNAJC5</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>16235</Reference>
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+              <ExternalReference id="53977">
+                <Source>OMIM</Source>
+                <Reference>611203</Reference>
+              </ExternalReference>
+              <ExternalReference id="60377">
+                <Source>Reactome</Source>
+                <Reference>Q9H3Z4</Reference>
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+              <ExternalReference id="53978">
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+                <Reference>Q9H3Z4</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>228302</OrphaCode>
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+      <Name lang="en">Carnitine palmitoyl transferase II deficiency, myopathic form</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15796">
+            <Name lang="en">carnitine palmitoyltransferase 2</Name>
+            <Symbol>CPT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPTASE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Genatlas</Source>
+                <Reference>CPT2</Reference>
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+              <ExternalReference id="28232">
+                <Source>HGNC</Source>
+                <Reference>2330</Reference>
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+              <ExternalReference id="28231">
+                <Source>OMIM</Source>
+                <Reference>600650</Reference>
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+              <ExternalReference id="60372">
+                <Source>Reactome</Source>
+                <Reference>P23786</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P23786</Reference>
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+              <ExternalReference id="60371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157184</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19100">
+      <OrphaCode>228305</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228305</ExpertLink>
+      <Name lang="en">Carnitine palmitoyl transferase II deficiency, severe infantile form</Name>
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+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">carnitine palmitoyltransferase 2</Name>
+            <Symbol>CPT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPTASE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>CPT2</Reference>
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+              <ExternalReference id="28232">
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+                <Reference>2330</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600650</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P23786</Reference>
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+              <ExternalReference id="32768">
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+                <Reference>P23786</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Carnitine palmitoyl transferase II deficiency, neonatal form</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+            <Symbol>CPT2</Symbol>
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+              <Synonym lang="en">CPTASE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>2330</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">RTA1A</Synonym>
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+              <Synonym lang="en">Swann blood group</Synonym>
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+              <Synonym lang="en">Wright blood group</Synonym>
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+            <Name lang="en">piezo type mechanosensitive ion channel component 1</Name>
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+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
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+                <Reference>582</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600163</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
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+                <Reference>Q14524</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19285295[PMID]_21512816[PMID]</SourceOfValidation>
+          <Gene id="19219">
+            <Name lang="en">dipeptidyl peptidase like 6</Name>
+            <Symbol>DPP6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DPL1</Synonym>
+              <Synonym lang="en">DPPX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Reference>ENSG00000130226</Reference>
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+              <ExternalReference id="46351">
+                <Source>Genatlas</Source>
+                <Reference>DPP6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3010</Reference>
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+                <Reference>126141</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42658</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">X-linked Alport syndrome-diffuse leiomyomatosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15775">
+            <Name lang="en">collagen type IV alpha 6 chain</Name>
+            <Symbol>COL4A6</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2208</Reference>
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+                <Source>OMIM</Source>
+                <Reference>303631</Reference>
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+              <ExternalReference id="82865">
+                <Source>Reactome</Source>
+                <Reference>Q14031</Reference>
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+              <ExternalReference id="32747">
+                <Source>SwissProt</Source>
+                <Reference>Q14031</Reference>
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+              <ExternalReference id="58685">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197565</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL4A6</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>20951201[PMID]</SourceOfValidation>
+          <Gene id="15774">
+            <Name lang="en">collagen type IV alpha 5 chain</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188153</Reference>
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+              <ExternalReference id="28126">
+                <Source>Genatlas</Source>
+                <Reference>COL4A5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2207</Reference>
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+                <Source>OMIM</Source>
+                <Reference>303630</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P29400</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=306</ExpertLink>
+      <Name lang="en">Benign familial infantile epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="20890">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 8</Name>
+            <Symbol>SCN8A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CIAT</Synonym>
+              <Synonym lang="en">CerIII</Synonym>
+              <Synonym lang="en">NaCh6</Synonym>
+              <Synonym lang="en">Nav1.6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83313">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196876</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SCN8A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10596</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>583</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600702</Reference>
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+              <ExternalReference id="83312">
+                <Source>Reactome</Source>
+                <Reference>Q9UQD0</Reference>
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+                <Reference>Q9UQD0</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">HBSCII</Synonym>
+              <Synonym lang="en">Nav1.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57764">
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+                <Reference>10588</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q99250</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="16296">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 2</Name>
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+              <Synonym lang="en">ENB1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167371</Reference>
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+                <Reference>30500</Reference>
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+            <Name lang="en">coagulation factor X</Name>
+            <Symbol>F10</Symbol>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+    <Disorder id="19076">
+      <OrphaCode>228169</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=228169</ExpertLink>
+      <Name lang="en">Autosomal dominant striatal neurodegeneration</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20085714[PMID]</SourceOfValidation>
+          <Gene id="19022">
+            <Name lang="en">phosphodiesterase 8B</Name>
+            <Symbol>PDE8B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60278">
+                <Source>Reactome</Source>
+                <Reference>O95263</Reference>
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+              <ExternalReference id="44950">
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+                <Reference>O95263</Reference>
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+              <ExternalReference id="60277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113231</Reference>
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+              <ExternalReference id="44947">
+                <Source>Genatlas</Source>
+                <Reference>PDE8B</Reference>
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+              <ExternalReference id="44948">
+                <Source>HGNC</Source>
+                <Reference>8794</Reference>
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+              <ExternalReference id="44949">
+                <Source>OMIM</Source>
+                <Reference>603390</Reference>
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+              <ExternalReference id="190477">
+                <Source>IUPHAR</Source>
+                <Reference>1308</Reference>
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+            <LocusList count="1">
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+    <Disorder id="3653">
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+      <Name lang="en">Hemoglobin C disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21886666[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="3654">
+      <OrphaCode>2133</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2133</ExpertLink>
+      <Name lang="en">Hemoglobin E disease</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21886666[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19078">
+      <OrphaCode>228179</OrphaCode>
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+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2M</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18394888[PMID]_17636067[PMID]</SourceOfValidation>
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+            <Name lang="en">dynamin 2</Name>
+            <Symbol>DNM2</Symbol>
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+              <Synonym lang="en">CMT2M</Synonym>
+              <Synonym lang="en">CMTDI1</Synonym>
+              <Synonym lang="en">CMTDIB</Synonym>
+              <Synonym lang="en">DI-CMTB</Synonym>
+              <Synonym lang="en">DYN2</Synonym>
+              <Synonym lang="en">DYNII</Synonym>
+              <Synonym lang="en">cytoskeletal protein</Synonym>
+              <Synonym lang="en">dynamin II</Synonym>
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+            <GeneType id="25993">
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+                <Reference>ENSG00000079805</Reference>
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+              <ExternalReference id="28636">
+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P50570</Reference>
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+            <Name lang="en">glycophorin C (Gerbich blood group)</Name>
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+              <Synonym lang="en">biogenesis of lysosomal organelles complex-1, subunit 8</Synonym>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16420244[PMID]_27514596[PMID]_20301464[PMID]</SourceOfValidation>
+          <Gene id="30728">
+            <Name lang="en">biogenesis of lysosomal organelles complex 1 subunit 5</Name>
+            <Symbol>BLOC1S5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="201727">
+                <Source>HGNC</Source>
+                <Reference>18561</Reference>
+              </ExternalReference>
+              <ExternalReference id="204614">
+                <Source>OMIM</Source>
+                <Reference>607289</Reference>
+              </ExternalReference>
+              <ExternalReference id="204615">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDH9</Reference>
+              </ExternalReference>
+              <ExternalReference id="204613">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188428</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="87297">
+                <GeneLocus>6p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16420244[PMID]_27514596[PMID]_20301464[PMID]</SourceOfValidation>
+          <Gene id="15371">
+            <Name lang="en">biogenesis of lysosomal organelles complex 1 subunit 3</Name>
+            <Symbol>BLOC1S3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BLOC-1 subunit 3</Synonym>
+              <Synonym lang="en">BLOS3</Synonym>
+              <Synonym lang="en">Biogenesis of Lysosome-related Organelles complex-1 Subunit 3</Synonym>
+              <Synonym lang="en">HPS8</Synonym>
+              <Synonym lang="en">Hermansky-Pudlak syndrome 8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60407">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189114</Reference>
+              </ExternalReference>
+              <ExternalReference id="36830">
+                <Source>Genatlas</Source>
+                <Reference>BLOC1S3</Reference>
+              </ExternalReference>
+              <ExternalReference id="26197">
+                <Source>HGNC</Source>
+                <Reference>20914</Reference>
+              </ExternalReference>
+              <ExternalReference id="26196">
+                <Source>OMIM</Source>
+                <Reference>609762</Reference>
+              </ExternalReference>
+              <ExternalReference id="60408">
+                <Source>Reactome</Source>
+                <Reference>Q6QNY0</Reference>
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+              <ExternalReference id="33928">
+                <Source>SwissProt</Source>
+                <Reference>Q6QNY0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7289">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16420244[PMID]_27514596[PMID]_20301464[PMID]</SourceOfValidation>
+          <Gene id="20494">
+            <Name lang="en">biogenesis of lysosomal organelles complex 1 subunit 6</Name>
+            <Symbol>BLOC1S6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BLOC-1 subunit pallidin</Synonym>
+              <Synonym lang="en">HPS9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="54195">
+                <Source>OMIM</Source>
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+              <ExternalReference id="60574">
+                <Source>Reactome</Source>
+                <Reference>Q9UL45</Reference>
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+              <ExternalReference id="54197">
+                <Source>SwissProt</Source>
+                <Reference>Q9UL45</Reference>
+              </ExternalReference>
+              <ExternalReference id="60573">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104164</Reference>
+              </ExternalReference>
+              <ExternalReference id="54196">
+                <Source>Genatlas</Source>
+                <Reference>PLDN</Reference>
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+              <ExternalReference id="54194">
+                <Source>HGNC</Source>
+                <Reference>8549</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11611">
+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19196">
+      <OrphaCode>231512</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231512</ExpertLink>
+      <Name lang="en">Hermansky-Pudlak syndrome due to BLOC-2 deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16216">
+            <Name lang="en">HPS3 biogenesis of lysosomal organelles complex 2 subunit 1</Name>
+            <Symbol>HPS3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BLOC2S1</Synonym>
+              <Synonym lang="en">SUTAL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163755</Reference>
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+              <ExternalReference id="37481">
+                <Source>Genatlas</Source>
+                <Reference>HPS3</Reference>
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+              <ExternalReference id="30268">
+                <Source>HGNC</Source>
+                <Reference>15597</Reference>
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+              <ExternalReference id="30267">
+                <Source>OMIM</Source>
+                <Reference>606118</Reference>
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+              <ExternalReference id="33280">
+                <Source>SwissProt</Source>
+                <Reference>Q969F9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q24</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16218">
+            <Name lang="en">HPS5 biogenesis of lysosomal organelles complex 2 subunit 2</Name>
+            <Symbol>HPS5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AIBP63</Synonym>
+              <Synonym lang="en">BLOC2S2</Synonym>
+              <Synonym lang="en">RU2</Synonym>
+              <Synonym lang="en">Ruby-eye protein 2 homolog</Synonym>
+              <Synonym lang="en">alpha-integrin-binding protein 63</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60403">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110756</Reference>
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+              <ExternalReference id="37483">
+                <Source>Genatlas</Source>
+                <Reference>HPS5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17022</Reference>
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+              <ExternalReference id="30275">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPZ3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16219">
+            <Name lang="en">HPS6 biogenesis of lysosomal organelles complex 2 subunit 3</Name>
+            <Symbol>HPS6</Symbol>
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+              <Synonym lang="en">BLOC2S3</Synonym>
+              <Synonym lang="en">FLJ22501</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>HPS6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86YV9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=256</ExpertLink>
+      <Name lang="en">Early-onset generalized limb-onset dystonia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301665[PMID]</SourceOfValidation>
+          <Gene id="15643">
+            <Name lang="en">torsin family 1 member A</Name>
+            <Symbol>TOR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DQ2</Synonym>
+              <Synonym lang="en">torsin A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136827</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">hypocretin neuropeptide precursor</Name>
+            <Symbol>HCRT</Symbol>
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+              <Synonym lang="en">PPOX</Synonym>
+              <Synonym lang="en">orexin</Synonym>
+              <Synonym lang="en">prepro-orexin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000161610</Reference>
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+                <Reference>HCRT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4847</Reference>
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+              <ExternalReference id="30136">
+                <Source>OMIM</Source>
+                <Reference>602358</Reference>
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+              <ExternalReference id="58680">
+                <Source>Reactome</Source>
+                <Reference>O43612</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18706091[PMID]_19410508[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000196126</Reference>
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+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
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+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
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+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
+              </ExternalReference>
+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18706091[PMID]</SourceOfValidation>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
+              </ExternalReference>
+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
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+              <ExternalReference id="43210">
+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
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+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
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+                <Reference>P01920</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21907016[PMID]</SourceOfValidation>
+          <Gene id="20643">
+            <Name lang="en">myelin oligodendrocyte glycoprotein</Name>
+            <Symbol>MOG</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">BTNL11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58681">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204655</Reference>
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+              <ExternalReference id="54768">
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+                <Reference>MOG</Reference>
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+                <Reference>7197</Reference>
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+                <Source>OMIM</Source>
+                <Reference>159465</Reference>
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+              <ExternalReference id="54765">
+                <Source>SwissProt</Source>
+                <Reference>Q16653</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23459209[PMID]</SourceOfValidation>
+          <Gene id="22425">
+            <Name lang="en">TNF superfamily member 4</Name>
+            <Symbol>TNFSF4</Symbol>
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+              <Synonym lang="en">CD252</Synonym>
+              <Synonym lang="en">OX-40L</Synonym>
+              <Synonym lang="en">gp34</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84054">
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+                <Reference>ENSG00000117586</Reference>
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+              <ExternalReference id="82279">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>603594</Reference>
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+              <ExternalReference id="97355">
+                <Source>Reactome</Source>
+                <Reference>P23510</Reference>
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+                <Reference>P23510</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24204295[PMID]</SourceOfValidation>
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+            <Name lang="en">purinergic receptor P2Y11</Name>
+            <Symbol>P2RY11</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244165</Reference>
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+              <ExternalReference id="82536">
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+                <Reference>P2RY11</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="84087">
+                <Source>Reactome</Source>
+                <Reference>Q96G91</Reference>
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+                <Reference>Q96G91</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">zinc finger protein 365</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138311</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">cathepsin H</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103811</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="15335">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Beta-thalassemia-X-linked thrombocytopenia syndrome</Name>
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+            <Symbol>GATA1</Symbol>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59200">
+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hemoglobin E-beta-thalassemia syndrome</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26223">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19176">
+      <OrphaCode>231242</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231242</ExpertLink>
+      <Name lang="en">Hemoglobin C-beta-thalassemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21886666[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
+              </ExternalReference>
+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+            </ExternalReferenceList>
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+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="3625">
+      <OrphaCode>2197</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2197</ExpertLink>
+      <Name lang="en">Idiopathic hypercalciuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11932268[PMID]</SourceOfValidation>
+          <Gene id="17738">
+            <Name lang="en">adenylate cyclase 10</Name>
+            <Symbol>ADCY10</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">HCA2</Synonym>
+              <Synonym lang="en">Hypercalciuria, absorptive, 2</Synonym>
+              <Synonym lang="en">RP1-313L4.2</Synonym>
+              <Synonym lang="en">SAC</Synonym>
+              <Synonym lang="en">SACI</Synonym>
+              <Synonym lang="en">Sacy</Synonym>
+              <Synonym lang="en">soluble adenylyl cyclase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58678">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143199</Reference>
+              </ExternalReference>
+              <ExternalReference id="39359">
+                <Source>Genatlas</Source>
+                <Reference>ADCY10</Reference>
+              </ExternalReference>
+              <ExternalReference id="39360">
+                <Source>HGNC</Source>
+                <Reference>21285</Reference>
+              </ExternalReference>
+              <ExternalReference id="39361">
+                <Source>OMIM</Source>
+                <Reference>605205</Reference>
+              </ExternalReference>
+              <ExternalReference id="97269">
+                <Source>Reactome</Source>
+                <Reference>Q96PN6</Reference>
+              </ExternalReference>
+              <ExternalReference id="39362">
+                <Source>SwissProt</Source>
+                <Reference>Q96PN6</Reference>
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+              <ExternalReference id="190357">
+                <Source>IUPHAR</Source>
+                <Reference>3068</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q24.2</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19175">
+      <OrphaCode>231237</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231237</ExpertLink>
+      <Name lang="en">Delta-beta-thalassemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18932066[PMID]</SourceOfValidation>
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+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18932066[PMID]</SourceOfValidation>
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+            <Name lang="en">hemoglobin subunit gamma 1</Name>
+            <Symbol>HBG1</Symbol>
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+              <Synonym lang="en">HBG-T2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000213934</Reference>
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+              <ExternalReference id="46606">
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+                <Reference>HBG1</Reference>
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+              <ExternalReference id="46605">
+                <Source>HGNC</Source>
+                <Reference>4831</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142200</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P69891</Reference>
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+                <Reference>P69891</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>1301204[PMID]</SourceOfValidation>
+          <Gene id="20551">
+            <Name lang="en">hemoglobin subunit delta</Name>
+            <Symbol>HBD</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000223609</Reference>
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+              <ExternalReference id="54345">
+                <Source>Genatlas</Source>
+                <Reference>HBD</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Dominant beta-thalassemia</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Beta-thalassemia intermedia</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000244734</Reference>
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+      <Name lang="en">Beta-thalassemia major</Name>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>ATP2C1</Symbol>
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+              <Synonym lang="en">KIAA1347</Synonym>
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+              <Synonym lang="en">calcium-transporting ATPase type 2C member 1</Synonym>
+              <Synonym lang="en">secretory pathway Ca2+/Mn2+ ATPase 1</Synonym>
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+                <Reference>13211</Reference>
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+            <Symbol>CEP78</Symbol>
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+              <Synonym lang="en">FLJ12643</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144699">
+                <Source>SwissProt</Source>
+                <Reference>Q5JTW2</Reference>
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+              <ExternalReference id="144700">
+                <Source>OMIM</Source>
+                <Reference>617110</Reference>
+              </ExternalReference>
+              <ExternalReference id="144701">
+                <Source>Genatlas</Source>
+                <Reference>CEP78</Reference>
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+              <ExternalReference id="144702">
+                <Source>Reactome</Source>
+                <Reference>Q5JTW2</Reference>
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+              <ExternalReference id="144697">
+                <Source>HGNC</Source>
+                <Reference>25740</Reference>
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+              <ExternalReference id="144698">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148019</Reference>
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+            <LocusList count="1">
+              <Locus id="40363">
+                <GeneLocus>9q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29300381[PMID]</SourceOfValidation>
+          <Gene id="25566">
+            <Name lang="en">arylsulfatase G</Name>
+            <Symbol>ARSG</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1001</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>SwissProt</Source>
+                <Reference>Q96EG1</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610008</Reference>
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+              <ExternalReference id="145809">
+                <Source>HGNC</Source>
+                <Reference>24102</Reference>
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+              <ExternalReference id="145810">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141337</Reference>
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+              <ExternalReference id="145813">
+                <Source>Genatlas</Source>
+                <Reference>ARSG</Reference>
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+              <ExternalReference id="145814">
+                <Source>Reactome</Source>
+                <Reference>Q96EG1</Reference>
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+                <GeneLocus>17q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19753315[PMID]</SourceOfValidation>
+          <Gene id="15755">
+            <Name lang="en">clarin 1</Name>
+            <Symbol>CLRN1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163646</Reference>
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+              <ExternalReference id="36498">
+                <Source>Genatlas</Source>
+                <Reference>CLRN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12605</Reference>
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+                <Reference>606397</Reference>
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+                <Reference>P58418</Reference>
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+                <GeneLocus>3q25.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17723">
+            <Name lang="en">mitochondrially encoded tRNA-Ser (AGU/C) 2</Name>
+            <Symbol>MT-TS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RP8</Synonym>
+              <Synonym lang="en">TRNS2</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
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+              <ExternalReference id="39142">
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+              <ExternalReference id="39143">
+                <Source>OMIM</Source>
+                <Reference>590085</Reference>
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+              <ExternalReference id="83112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210184</Reference>
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+              <ExternalReference id="39141">
+                <Source>Genatlas</Source>
+                <Reference>MT-TS2</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22279524[PMID]</SourceOfValidation>
+          <Gene id="21178">
+            <Name lang="en">histidyl-tRNA synthetase 1</Name>
+            <Symbol>HARS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'histidine tRNA ligase 1, cytoplasmic'</Synonym>
+              <Synonym lang="en">HisRS</Synonym>
+              <Synonym lang="en">Histidine tRNA ligase 1, cytoplasmic</Synonym>
+              <Synonym lang="en">Jo-1 antigen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000170445</Reference>
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+                <Reference>4816</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P12081</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Frasier syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>WT1</Symbol>
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+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
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+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
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+                <Reference>607102</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
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+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
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+      <Name lang="en">Usher syndrome type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">usherin</Name>
+            <Symbol>USH2A</Symbol>
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+              <Synonym lang="en">RP39</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+              <ExternalReference id="57586">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000042781</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Combined immunodeficiency due to partial RAG1 deficiency</Name>
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+              <Synonym lang="en">RING finger protein 74</Synonym>
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+              <Synonym lang="en">recombination activating protein 1</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3612">
+      <OrphaCode>2596</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2596</ExpertLink>
+      <Name lang="en">Myopathy and diabetes mellitus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15048886[PMID]</SourceOfValidation>
+          <Gene id="16981">
+            <Name lang="en">mitochondrially encoded tRNA-Glu (GAA/G)</Name>
+            <Symbol>MT-TE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnE</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83061">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210194</Reference>
+              </ExternalReference>
+              <ExternalReference id="35889">
+                <Source>Genatlas</Source>
+                <Reference>MT-TE</Reference>
+              </ExternalReference>
+              <ExternalReference id="35887">
+                <Source>HGNC</Source>
+                <Reference>7479</Reference>
+              </ExternalReference>
+              <ExternalReference id="35888">
+                <Source>OMIM</Source>
+                <Reference>590025</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9873">
+                <GeneLocus>mitochondria</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="3615">
+      <OrphaCode>2966</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=2966</ExpertLink>
+      <Name lang="en">Properdin deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8871668[PMID]</SourceOfValidation>
+          <Gene id="15440">
+            <Name lang="en">complement factor properdin</Name>
+            <Symbol>CFP</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58670">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126759</Reference>
+              </ExternalReference>
+              <ExternalReference id="37362">
+                <Source>Genatlas</Source>
+                <Reference>CFP</Reference>
+              </ExternalReference>
+              <ExternalReference id="26528">
+                <Source>HGNC</Source>
+                <Reference>8864</Reference>
+              </ExternalReference>
+              <ExternalReference id="26527">
+                <Source>OMIM</Source>
+                <Reference>300383</Reference>
+              </ExternalReference>
+              <ExternalReference id="58671">
+                <Source>Reactome</Source>
+                <Reference>P27918</Reference>
+              </ExternalReference>
+              <ExternalReference id="32409">
+                <Source>SwissProt</Source>
+                <Reference>P27918</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21925">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19166">
+      <OrphaCode>231160</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231160</ExpertLink>
+      <Name lang="en">Familial cerebral saccular aneurysm</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29304371[PMID]</SourceOfValidation>
+          <Gene id="26530">
+            <Name lang="en">angiopoietin like 6</Name>
+            <Symbol>ANGPTL6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AGF</Synonym>
+              <Synonym lang="en">ARP5</Synonym>
+              <Synonym lang="en">angiopoietin-related protein 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="156956">
+                <Source>HGNC</Source>
+                <Reference>23140</Reference>
+              </ExternalReference>
+              <ExternalReference id="156957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130812</Reference>
+              </ExternalReference>
+              <ExternalReference id="156958">
+                <Source>SwissProt</Source>
+                <Reference>Q8NI99</Reference>
+              </ExternalReference>
+              <ExternalReference id="156959">
+                <Source>OMIM</Source>
+                <Reference>609336</Reference>
+              </ExternalReference>
+              <ExternalReference id="156960">
+                <Source>Genatlas</Source>
+                <Reference>ANGPTL6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="46865">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22241462[PMID]</SourceOfValidation>
+          <Gene id="15770">
+            <Name lang="en">collagen type III alpha 1 chain</Name>
+            <Symbol>COL3A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168542</Reference>
+              </ExternalReference>
+              <ExternalReference id="28107">
+                <Source>Genatlas</Source>
+                <Reference>COL3A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28105">
+                <Source>HGNC</Source>
+                <Reference>2201</Reference>
+              </ExternalReference>
+              <ExternalReference id="28104">
+                <Source>OMIM</Source>
+                <Reference>120180</Reference>
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+              <ExternalReference id="57909">
+                <Source>Reactome</Source>
+                <Reference>P02461</Reference>
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+              <ExternalReference id="32742">
+                <Source>SwissProt</Source>
+                <Reference>P02461</Reference>
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+            <LocusList count="1">
+              <Locus id="8017">
+                <GeneLocus>2q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19299629[PMID]</SourceOfValidation>
+          <Gene id="15977">
+            <Name lang="en">endoglin</Name>
+            <Symbol>ENG</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD105</Synonym>
+              <Synonym lang="en">END</Synonym>
+              <Synonym lang="en">HHT1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143888">
+                <Source>Reactome</Source>
+                <Reference>P17813</Reference>
+              </ExternalReference>
+              <ExternalReference id="193620">
+                <Source>IUPHAR</Source>
+                <Reference>2895</Reference>
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+              <ExternalReference id="57041">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106991</Reference>
+              </ExternalReference>
+              <ExternalReference id="29082">
+                <Source>Genatlas</Source>
+                <Reference>ENG</Reference>
+              </ExternalReference>
+              <ExternalReference id="29084">
+                <Source>HGNC</Source>
+                <Reference>3349</Reference>
+              </ExternalReference>
+              <ExternalReference id="29083">
+                <Source>OMIM</Source>
+                <Reference>131195</Reference>
+              </ExternalReference>
+              <ExternalReference id="32989">
+                <Source>SwissProt</Source>
+                <Reference>P17813</Reference>
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+            <LocusList count="1">
+              <Locus id="66649">
+                <GeneLocus>9q34.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19299629[PMID]</SourceOfValidation>
+          <Gene id="22553">
+            <Name lang="en">transforming growth factor beta receptor 3</Name>
+            <Symbol>TGFBR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BGCAN</Synonym>
+              <Synonym lang="en">betaglycan</Synonym>
+              <Synonym lang="en">betaglycan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84583">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069702</Reference>
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+              <ExternalReference id="82722">
+                <Source>Genatlas</Source>
+                <Reference>TGFBR3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11774</Reference>
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+              <ExternalReference id="84584">
+                <Source>IUPHAR</Source>
+                <Reference>1796</Reference>
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+              <ExternalReference id="82721">
+                <Source>OMIM</Source>
+                <Reference>600742</Reference>
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+              <ExternalReference id="82723">
+                <Source>SwissProt</Source>
+                <Reference>Q03167</Reference>
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+              <Locus id="25707">
+                <GeneLocus>1p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27895300[PMID]</SourceOfValidation>
+          <Gene id="27768">
+            <Name lang="en">thrombospondin type 1 domain containing 1</Name>
+            <Symbol>THSD1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TMTSP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="161503">
+                <Source>HGNC</Source>
+                <Reference>17754</Reference>
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+              <ExternalReference id="161504">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136114</Reference>
+              </ExternalReference>
+              <ExternalReference id="161505">
+                <Source>SwissProt</Source>
+                <Reference>Q9NS62</Reference>
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+              <ExternalReference id="161506">
+                <Source>Reactome</Source>
+                <Reference>Q9NS62</Reference>
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+              <ExternalReference id="161507">
+                <Source>OMIM</Source>
+                <Reference>616821</Reference>
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+              <Locus id="50199">
+                <GeneLocus>13q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19167">
+      <OrphaCode>231169</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231169</ExpertLink>
+      <Name lang="en">Usher syndrome type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="21749">
+            <Name lang="en">Usher syndrome 1K (autosomal recessive)</Name>
+            <Symbol>USH1K</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="76462">
+                <Source>HGNC</Source>
+                <Reference>43724</Reference>
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+            <LocusList count="1">
+              <Locus id="12323">
+                <GeneLocus>10p11.21-q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
+            <Symbol>CDH23</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR23</Synonym>
+              <Synonym lang="en">cadherin-related family member 23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
+              </ExternalReference>
+              <ExternalReference id="26431">
+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
+              </ExternalReference>
+              <ExternalReference id="26433">
+                <Source>HGNC</Source>
+                <Reference>13733</Reference>
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+              <ExternalReference id="26432">
+                <Source>OMIM</Source>
+                <Reference>605516</Reference>
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+              <ExternalReference id="32388">
+                <Source>SwissProt</Source>
+                <Reference>Q9H251</Reference>
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+              <Locus id="7377">
+                <GeneLocus>10q22.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="15700">
+            <Name lang="en">USH1 protein network component harmonin</Name>
+            <Symbol>USH1C</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AIE-75</Synonym>
+              <Synonym lang="en">NY-CO-37</Synonym>
+              <Synonym lang="en">NY-CO-38</Synonym>
+              <Synonym lang="en">PDZ-73</Synonym>
+              <Synonym lang="en">PDZ73</Synonym>
+              <Synonym lang="en">PDZD7C</Synonym>
+              <Synonym lang="en">harmonin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006611</Reference>
+              </ExternalReference>
+              <ExternalReference id="27778">
+                <Source>Genatlas</Source>
+                <Reference>USH1C</Reference>
+              </ExternalReference>
+              <ExternalReference id="27780">
+                <Source>HGNC</Source>
+                <Reference>12597</Reference>
+              </ExternalReference>
+              <ExternalReference id="27779">
+                <Source>OMIM</Source>
+                <Reference>605242</Reference>
+              </ExternalReference>
+              <ExternalReference id="32672">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6N9</Reference>
+              </ExternalReference>
+              <ExternalReference id="142817">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6N9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="15701">
+            <Name lang="en">USH1 protein network component sans</Name>
+            <Symbol>USH1G</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ANKS4A</Synonym>
+              <Synonym lang="en">FLJ33924</Synonym>
+              <Synonym lang="en">Sans</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143034">
+                <Source>Reactome</Source>
+                <Reference>Q495M9</Reference>
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+              <ExternalReference id="60394">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182040</Reference>
+              </ExternalReference>
+              <ExternalReference id="27786">
+                <Source>Genatlas</Source>
+                <Reference>USH1G</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16356</Reference>
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+              <ExternalReference id="27783">
+                <Source>OMIM</Source>
+                <Reference>607696</Reference>
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+              <ExternalReference id="32673">
+                <Source>SwissProt</Source>
+                <Reference>Q495M9</Reference>
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+                <GeneLocus>17q25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="16510">
+            <Name lang="en">myosin VIIA</Name>
+            <Symbol>MYO7A</Symbol>
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+              <Synonym lang="en">NSRD2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137474</Reference>
+              </ExternalReference>
+              <ExternalReference id="31635">
+                <Source>Genatlas</Source>
+                <Reference>MYO7A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7606</Reference>
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+                <Source>OMIM</Source>
+                <Reference>276903</Reference>
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+              <ExternalReference id="97237">
+                <Source>Reactome</Source>
+                <Reference>Q13402</Reference>
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+              <ExternalReference id="33575">
+                <Source>SwissProt</Source>
+                <Reference>Q13402</Reference>
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+              <Locus id="16721">
+                <GeneLocus>11q13.5</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="16620">
+            <Name lang="en">protocadherin related 15</Name>
+            <Symbol>PCDH15</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR15</Synonym>
+              <Synonym lang="en">cadherin-related family member 15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59621">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150275</Reference>
+              </ExternalReference>
+              <ExternalReference id="32160">
+                <Source>Genatlas</Source>
+                <Reference>PCDH15</Reference>
+              </ExternalReference>
+              <ExternalReference id="32158">
+                <Source>HGNC</Source>
+                <Reference>14674</Reference>
+              </ExternalReference>
+              <ExternalReference id="32157">
+                <Source>OMIM</Source>
+                <Reference>605514</Reference>
+              </ExternalReference>
+              <ExternalReference id="33685">
+                <Source>SwissProt</Source>
+                <Reference>Q96QU1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9603">
+                <GeneLocus>10q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="16928">
+            <Name lang="en">Usher syndrome 1E (autosomal recessive, severe)</Name>
+            <Symbol>USH1E</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="35585">
+                <Source>HGNC</Source>
+                <Reference>12599</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9843">
+                <GeneLocus>21q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301442[PMID]</SourceOfValidation>
+          <Gene id="21565">
+            <Name lang="en">Usher syndrome 1H (autosomal recessive)</Name>
+            <Symbol>USH1H</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="74530">
+                <Source>HGNC</Source>
+                <Reference>22433</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12181">
+                <GeneLocus>15q22-q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23023331[PMID]_20301442[PMID]</SourceOfValidation>
+          <Gene id="21566">
+            <Name lang="en">calcium and integrin binding family member 2</Name>
+            <Symbol>CIB2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIP2</Synonym>
+              <Synonym lang="en">kinase interacting protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136425</Reference>
+              </ExternalReference>
+              <ExternalReference id="74544">
+                <Source>Genatlas</Source>
+                <Reference>CIB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="74542">
+                <Source>HGNC</Source>
+                <Reference>24579</Reference>
+              </ExternalReference>
+              <ExternalReference id="74543">
+                <Source>OMIM</Source>
+                <Reference>605564</Reference>
+              </ExternalReference>
+              <ExternalReference id="74545">
+                <Source>SwissProt</Source>
+                <Reference>O75838</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22219">
+                <GeneLocus>15q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29572253[PMID]</SourceOfValidation>
+          <Gene id="17462">
+            <Name lang="en">espin</Name>
+            <Symbol>ESPN</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59599">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187017</Reference>
+              </ExternalReference>
+              <ExternalReference id="38187">
+                <Source>Genatlas</Source>
+                <Reference>ESPN</Reference>
+              </ExternalReference>
+              <ExternalReference id="38190">
+                <Source>HGNC</Source>
+                <Reference>13281</Reference>
+              </ExternalReference>
+              <ExternalReference id="38188">
+                <Source>OMIM</Source>
+                <Reference>606351</Reference>
+              </ExternalReference>
+              <ExternalReference id="38189">
+                <Source>SwissProt</Source>
+                <Reference>B1AK53</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10251">
+                <GeneLocus>1p36.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19161">
+      <OrphaCode>231140</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231140</ExpertLink>
+      <Name lang="en">Silver-Russell syndrome due to an imprinting defect of 11p15</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33236057[PMID]</SourceOfValidation>
+          <Gene id="17385">
+            <Name lang="en">insulin like growth factor 2</Name>
+            <Symbol>IGF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ44734</Synonym>
+              <Synonym lang="en">IGF-II</Synonym>
+              <Synonym lang="en">preptin</Synonym>
+              <Synonym lang="en">somatomedin A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167244</Reference>
+              </ExternalReference>
+              <ExternalReference id="37170">
+                <Source>Genatlas</Source>
+                <Reference>IGF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="37171">
+                <Source>HGNC</Source>
+                <Reference>5466</Reference>
+              </ExternalReference>
+              <ExternalReference id="37172">
+                <Source>OMIM</Source>
+                <Reference>147470</Reference>
+              </ExternalReference>
+              <ExternalReference id="58139">
+                <Source>Reactome</Source>
+                <Reference>P01344</Reference>
+              </ExternalReference>
+              <ExternalReference id="37173">
+                <Source>SwissProt</Source>
+                <Reference>P01344</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13589">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19675668[PMID]</SourceOfValidation>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ASM</Synonym>
+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
+              </ExternalReference>
+              <ExternalReference id="37118">
+                <Source>Genatlas</Source>
+                <Reference>H19</Reference>
+              </ExternalReference>
+              <ExternalReference id="33995">
+                <Source>HGNC</Source>
+                <Reference>4713</Reference>
+              </ExternalReference>
+              <ExternalReference id="37597">
+                <Source>OMIM</Source>
+                <Reference>103280</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9247">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19162">
+      <OrphaCode>231144</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231144</ExpertLink>
+      <Name lang="en">Silver-Russell syndrome due to 11p15 microduplication</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28592837[PMID]</SourceOfValidation>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ASM</Synonym>
+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
+              </ExternalReference>
+              <ExternalReference id="37118">
+                <Source>Genatlas</Source>
+                <Reference>H19</Reference>
+              </ExternalReference>
+              <ExternalReference id="33995">
+                <Source>HGNC</Source>
+                <Reference>4713</Reference>
+              </ExternalReference>
+              <ExternalReference id="37597">
+                <Source>OMIM</Source>
+                <Reference>103280</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9247">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20503324[PMID]</SourceOfValidation>
+          <Gene id="17385">
+            <Name lang="en">insulin like growth factor 2</Name>
+            <Symbol>IGF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ44734</Synonym>
+              <Synonym lang="en">IGF-II</Synonym>
+              <Synonym lang="en">preptin</Synonym>
+              <Synonym lang="en">somatomedin A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167244</Reference>
+              </ExternalReference>
+              <ExternalReference id="37170">
+                <Source>Genatlas</Source>
+                <Reference>IGF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="37171">
+                <Source>HGNC</Source>
+                <Reference>5466</Reference>
+              </ExternalReference>
+              <ExternalReference id="37172">
+                <Source>OMIM</Source>
+                <Reference>147470</Reference>
+              </ExternalReference>
+              <ExternalReference id="58139">
+                <Source>Reactome</Source>
+                <Reference>P01344</Reference>
+              </ExternalReference>
+              <ExternalReference id="37173">
+                <Source>SwissProt</Source>
+                <Reference>P01344</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13589">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19156">
+      <OrphaCode>231120</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231120</ExpertLink>
+      <Name lang="en">Beckwith-Wiedemann syndrome due to CDKN1C mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26077438[PMID]_20803657[PMID]_20301568[PMID]</SourceOfValidation>
+          <Gene id="15425">
+            <Name lang="en">cyclin dependent kinase inhibitor 1C</Name>
+            <Symbol>CDKN1C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIP2</Synonym>
+              <Synonym lang="en">P57</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60393">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129757</Reference>
+              </ExternalReference>
+              <ExternalReference id="26457">
+                <Source>Genatlas</Source>
+                <Reference>CDKN1C</Reference>
+              </ExternalReference>
+              <ExternalReference id="26455">
+                <Source>HGNC</Source>
+                <Reference>1786</Reference>
+              </ExternalReference>
+              <ExternalReference id="26454">
+                <Source>OMIM</Source>
+                <Reference>600856</Reference>
+              </ExternalReference>
+              <ExternalReference id="32393">
+                <Source>SwissProt</Source>
+                <Reference>P49918</Reference>
+              </ExternalReference>
+              <ExternalReference id="135046">
+                <Source>Reactome</Source>
+                <Reference>P49918</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35923">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="19158">
+      <OrphaCode>231127</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231127</ExpertLink>
+      <Name lang="en">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15314640[PMID]</SourceOfValidation>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ASM</Synonym>
+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
+              </ExternalReference>
+              <ExternalReference id="37118">
+                <Source>Genatlas</Source>
+                <Reference>H19</Reference>
+              </ExternalReference>
+              <ExternalReference id="33995">
+                <Source>HGNC</Source>
+                <Reference>4713</Reference>
+              </ExternalReference>
+              <ExternalReference id="37597">
+                <Source>OMIM</Source>
+                <Reference>103280</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9247">
+                <GeneLocus>11p15.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="19153">
+      <OrphaCode>231108</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231108</ExpertLink>
+      <Name lang="en">Familial rhabdoid tumor</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10521299[PMID]</SourceOfValidation>
+          <Gene id="15526">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1</Name>
+            <Symbol>SMARCB1</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">BAF47</Synonym>
+              <Synonym lang="en">Ini1</Synonym>
+              <Synonym lang="en">PPP1R144</Synonym>
+              <Synonym lang="en">RDT</Synonym>
+              <Synonym lang="en">SNF5</Synonym>
+              <Synonym lang="en">Sfh1p</Synonym>
+              <Synonym lang="en">Snr1</Synonym>
+              <Synonym lang="en">hSNFS</Synonym>
+              <Synonym lang="en">integrase interactor 1</Synonym>
+              <Synonym lang="en">malignant rhabdoid tumor suppressor</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 144</Synonym>
+              <Synonym lang="en">sucrose nonfermenting, yeast, homolog-like 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91583">
+                <Source>Reactome</Source>
+                <Reference>Q12824</Reference>
+              </ExternalReference>
+              <ExternalReference id="32497">
+                <Source>SwissProt</Source>
+                <Reference>Q12824</Reference>
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+              <ExternalReference id="59207">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099956</Reference>
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+              <ExternalReference id="26952">
+                <Source>Genatlas</Source>
+                <Reference>SMARCB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26954">
+                <Source>HGNC</Source>
+                <Reference>11103</Reference>
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+              <ExternalReference id="26953">
+                <Source>OMIM</Source>
+                <Reference>601607</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7575">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20137775[PMID]_21566516[PMID]</SourceOfValidation>
+          <Gene id="18993">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4</Name>
+            <Symbol>SMARCA4</Symbol>
+            <SynonymList count="17">
+              <Synonym lang="en">ATP-dependent helicase SMARCA4</Synonym>
+              <Synonym lang="en">BAF190</Synonym>
+              <Synonym lang="en">BRG1</Synonym>
+              <Synonym lang="en">BRM/SWI2-related gene 1</Synonym>
+              <Synonym lang="en">FLJ39786</Synonym>
+              <Synonym lang="en">SNF2</Synonym>
+              <Synonym lang="en">SNF2-BETA</Synonym>
+              <Synonym lang="en">SNF2-like 4</Synonym>
+              <Synonym lang="en">SNF2LB</Synonym>
+              <Synonym lang="en">SWI2</Synonym>
+              <Synonym lang="en">brahma protein-like 1</Synonym>
+              <Synonym lang="en">global transcription activator homologous sequence</Synonym>
+              <Synonym lang="en">hSNF2b</Synonym>
+              <Synonym lang="en">homeotic gene regulator</Synonym>
+              <Synonym lang="en">mitotic growth and transcription activator</Synonym>
+              <Synonym lang="en">nuclear protein GRB1</Synonym>
+              <Synonym lang="en">sucrose nonfermenting-like 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60392">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127616</Reference>
+              </ExternalReference>
+              <ExternalReference id="44562">
+                <Source>Genatlas</Source>
+                <Reference>SMARCA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="44563">
+                <Source>HGNC</Source>
+                <Reference>11100</Reference>
+              </ExternalReference>
+              <ExternalReference id="87990">
+                <Source>IUPHAR</Source>
+                <Reference>2740</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603254</Reference>
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+              <ExternalReference id="87989">
+                <Source>Reactome</Source>
+                <Reference>P51532</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51532</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19155">
+      <OrphaCode>231117</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231117</ExpertLink>
+      <Name lang="en">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21863054[PMID]_20803657[PMID]_20301568[PMID]</SourceOfValidation>
+          <Gene id="16427">
+            <Name lang="en">H19 imprinted maternally expressed transcript</Name>
+            <Symbol>H19</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ASM</Synonym>
+              <Synonym lang="en">ASM1</Synonym>
+              <Synonym lang="en">D11S813E</Synonym>
+              <Synonym lang="en">LINC00008</Synonym>
+              <Synonym lang="en">MIR675 host gene</Synonym>
+              <Synonym lang="en">MIR675HG</Synonym>
+              <Synonym lang="en">NCRNA00008</Synonym>
+              <Synonym lang="en">adult skeletal muscle</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 8</Synonym>
+              <Synonym lang="en">non-protein coding RNA 8</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="57731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130600</Reference>
+              </ExternalReference>
+              <ExternalReference id="37118">
+                <Source>Genatlas</Source>
+                <Reference>H19</Reference>
+              </ExternalReference>
+              <ExternalReference id="33995">
+                <Source>HGNC</Source>
+                <Reference>4713</Reference>
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+                <Source>OMIM</Source>
+                <Reference>103280</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12019213[PMID]_20803657[PMID]_20301568[PMID]</SourceOfValidation>
+          <Gene id="16825">
+            <Name lang="en">KCNQ1 opposite strand/antisense transcript 1</Name>
+            <Symbol>KCNQ1OT1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">KCNQ1 antisense RNA 2 (non-protein coding)</Synonym>
+              <Synonym lang="en">KCNQ1 overlapping transcript 1 (non-protein coding)</Synonym>
+              <Synonym lang="en">KCNQ1-AS2</Synonym>
+              <Synonym lang="en">KvDMR1</Synonym>
+              <Synonym lang="en">KvLQT1-AS</Synonym>
+              <Synonym lang="en">LIT1</Synonym>
+              <Synonym lang="en">NCRNA00012</Synonym>
+              <Synonym lang="en">non-protein coding RNA 12</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="82599">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269821</Reference>
+              </ExternalReference>
+              <ExternalReference id="35132">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ1OT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35130">
+                <Source>HGNC</Source>
+                <Reference>6295</Reference>
+              </ExternalReference>
+              <ExternalReference id="35131">
+                <Source>OMIM</Source>
+                <Reference>604115</Reference>
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+            <LocusList count="1">
+              <Locus id="9763">
+                <GeneLocus>11p15.5</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21863054[PMID]_20803657[PMID]_20301568[PMID]</SourceOfValidation>
+          <Gene id="17385">
+            <Name lang="en">insulin like growth factor 2</Name>
+            <Symbol>IGF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ44734</Synonym>
+              <Synonym lang="en">IGF-II</Synonym>
+              <Synonym lang="en">preptin</Synonym>
+              <Synonym lang="en">somatomedin A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167244</Reference>
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+              <ExternalReference id="37170">
+                <Source>Genatlas</Source>
+                <Reference>IGF2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5466</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P01344</Reference>
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+              <ExternalReference id="37173">
+                <Source>SwissProt</Source>
+                <Reference>P01344</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11p15.5</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Familial generalized lentiginosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26203640[PMID]</SourceOfValidation>
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+            <Name lang="en">SAM and SH3 domain containing 1</Name>
+            <Symbol>SASH1</Symbol>
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+              <Synonym lang="en">KIAA0790</Synonym>
+              <Synonym lang="en">SH3D6A</Synonym>
+              <Synonym lang="en">dJ323M4.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>SASH1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O94885</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=3318</ExpertLink>
+      <Name lang="en">Essential thrombocythemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19262601[PMID]_23781511[PMID]</SourceOfValidation>
+          <Gene id="20177">
+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
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+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20032</Synonym>
+              <Synonym lang="en">ten-eleven translocation 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>25941</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>21653328[PMID]_21825979[PMID]</SourceOfValidation>
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+            <Name lang="en">Janus kinase 2</Name>
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+              <Synonym lang="en">JTK10</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="16460">
+            <Name lang="en">MPL proto-oncogene, thrombopoietin receptor</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">CD110</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>24325256[PMID]_24325359[PMID]</SourceOfValidation>
+          <Gene id="22642">
+            <Name lang="en">calreticulin</Name>
+            <Symbol>CALR</Symbol>
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+              <Synonym lang="en">Sicca syndrome antigen A (autoantigen Ro; calreticulin)</Synonym>
+              <Synonym lang="en">autoantigen Ro</Synonym>
+              <Synonym lang="en">cC1qR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179218</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CALR</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>21653328[PMID]_21825979[PMID]</SourceOfValidation>
+          <Gene id="22661">
+            <Name lang="en">SH2B adaptor protein 3</Name>
+            <Symbol>SH2B3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IDDM20</Synonym>
+              <Synonym lang="en">LNK</Synonym>
+              <Synonym lang="en">lymphocyte adaptor protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="88009">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111252</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SH2B3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29605</Reference>
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+                <Reference>605093</Reference>
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+              <ExternalReference id="88008">
+                <Source>Reactome</Source>
+                <Reference>Q9UQQ2</Reference>
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+              <ExternalReference id="87643">
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+                <Reference>Q9UQQ2</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9258660[PMID]_21653328[PMID]_20068225[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141510</Reference>
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+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
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+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
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+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
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+                <Reference>P04637</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+      <Name lang="en">Ehlers-Danlos/osteogenesis imperfecta syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
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+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
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+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
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+                <Reference>P02452</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23692737[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>120160</Reference>
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+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
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+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
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+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
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+                <GeneLocus>7q21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>230851</OrphaCode>
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+      <Name lang="en">Cardiac-valvular Ehlers-Danlos syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
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+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="28094">
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+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
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+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
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+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
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+      <Name lang="en">Hereditary thrombophilia due to congenital antithrombin deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">serpin family C member 1</Name>
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+              <Synonym lang="en">antithrombin III</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156709</Reference>
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+      <Name lang="en">Autosomal dominant generalized dystrophic epidermolysis bullosa</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59408">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114270</Reference>
+              </ExternalReference>
+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
+              </ExternalReference>
+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
+              </ExternalReference>
+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24001">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="4043">
+      <OrphaCode>1900</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1900</ExpertLink>
+      <Name lang="en">Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15979919[PMID]_20301635[PMID]</SourceOfValidation>
+          <Gene id="15109">
+            <Name lang="en">procollagen-lysine,2-oxoglutarate 5-dioxygenase 1</Name>
+            <Symbol>PLOD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LH1</Synonym>
+              <Synonym lang="en">lysyl hydroxlase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083444</Reference>
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+              <ExternalReference id="24952">
+                <Source>Genatlas</Source>
+                <Reference>PLOD1</Reference>
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+              <ExternalReference id="24950">
+                <Source>HGNC</Source>
+                <Reference>9081</Reference>
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+              <ExternalReference id="24949">
+                <Source>OMIM</Source>
+                <Reference>153454</Reference>
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+              <ExternalReference id="82742">
+                <Source>Reactome</Source>
+                <Reference>Q02809</Reference>
+              </ExternalReference>
+              <ExternalReference id="32800">
+                <Source>SwissProt</Source>
+                <Reference>Q02809</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19210">
+      <OrphaCode>231671</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231671</ExpertLink>
+      <Name lang="en">Isolated growth hormone deficiency type IB</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>19762173[PMID]_22139958[PMID]</SourceOfValidation>
+          <Gene id="16121">
+            <Name lang="en">growth hormone 1</Name>
+            <Symbol>GH1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GH</Synonym>
+              <Synonym lang="en">GH-N</Synonym>
+              <Synonym lang="en">GHN</Synonym>
+              <Synonym lang="en">hGH-N</Synonym>
+              <Synonym lang="en">pituitary growth hormone</Synonym>
+              <Synonym lang="en">somatotropin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58752">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000259384</Reference>
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+              <ExternalReference id="29809">
+                <Source>Genatlas</Source>
+                <Reference>GH1</Reference>
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+              <ExternalReference id="29807">
+                <Source>HGNC</Source>
+                <Reference>4261</Reference>
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+              <ExternalReference id="29806">
+                <Source>OMIM</Source>
+                <Reference>139250</Reference>
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+              <ExternalReference id="58753">
+                <Source>Reactome</Source>
+                <Reference>P01241</Reference>
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+              <ExternalReference id="33136">
+                <Source>SwissProt</Source>
+                <Reference>P01241</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19762173[PMID]_22139958[PMID]</SourceOfValidation>
+          <Gene id="16123">
+            <Name lang="en">growth hormone releasing hormone receptor</Name>
+            <Symbol>GHRHR</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106128</Reference>
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+                <Reference>GHRHR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4266</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>247</Reference>
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+              <ExternalReference id="29816">
+                <Source>OMIM</Source>
+                <Reference>139191</Reference>
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+              <ExternalReference id="60411">
+                <Source>Reactome</Source>
+                <Reference>Q02643</Reference>
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+              <ExternalReference id="33138">
+                <Source>SwissProt</Source>
+                <Reference>Q02643</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Vascular Ehlers-Danlos syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168542</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2201</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120180</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">pituitary growth hormone</Synonym>
+              <Synonym lang="en">somatotropin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000259384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GH1</Reference>
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+              <ExternalReference id="58753">
+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+    <Disorder id="4045">
+      <OrphaCode>1901</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1901</ExpertLink>
+      <Name lang="en">Dermatosparaxis Ehlers-Danlos syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10417273[PMID]</SourceOfValidation>
+          <Gene id="15083">
+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 2</Name>
+            <Symbol>ADAMTS2</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ADAM-TS2</Synonym>
+              <Synonym lang="en">ADAMTS-3</Synonym>
+              <Synonym lang="en">NPI</Synonym>
+              <Synonym lang="en">PCINP</Synonym>
+              <Synonym lang="en">hPCPNI</Synonym>
+              <Synonym lang="en">procollagen I N-proteinase</Synonym>
+              <Synonym lang="en">procollagen N-endopeptidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087116</Reference>
+              </ExternalReference>
+              <ExternalReference id="24822">
+                <Source>Genatlas</Source>
+                <Reference>ADAMTS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24824">
+                <Source>HGNC</Source>
+                <Reference>218</Reference>
+              </ExternalReference>
+              <ExternalReference id="24823">
+                <Source>OMIM</Source>
+                <Reference>604539</Reference>
+              </ExternalReference>
+              <ExternalReference id="82735">
+                <Source>Reactome</Source>
+                <Reference>O95450</Reference>
+              </ExternalReference>
+              <ExternalReference id="32437">
+                <Source>SwissProt</Source>
+                <Reference>O95450</Reference>
+              </ExternalReference>
+              <ExternalReference id="193574">
+                <Source>IUPHAR</Source>
+                <Reference>1675</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66557">
+                <GeneLocus>5q35.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33369194[PMID]</SourceOfValidation>
+          <Gene id="18351">
+            <Name lang="en">ADAMTS like 2</Name>
+            <Symbol>ADAMTSL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0605</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58254">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197859</Reference>
+              </ExternalReference>
+              <ExternalReference id="41677">
+                <Source>Genatlas</Source>
+                <Reference>ADAMTSL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="41678">
+                <Source>HGNC</Source>
+                <Reference>14631</Reference>
+              </ExternalReference>
+              <ExternalReference id="41679">
+                <Source>OMIM</Source>
+                <Reference>612277</Reference>
+              </ExternalReference>
+              <ExternalReference id="87988">
+                <Source>Reactome</Source>
+                <Reference>Q86TH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="41680">
+                <Source>SwissProt</Source>
+                <Reference>Q86TH1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23739">
+                <GeneLocus>9q34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19213">
+      <OrphaCode>231720</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=231720</ExpertLink>
+      <Name lang="en">Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10835633[PMID]_19762173[PMID]</SourceOfValidation>
+          <Gene id="16355">
+            <Name lang="en">LIM homeobox 3</Name>
+            <Symbol>LHX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="30923">
+                <Source>Genatlas</Source>
+                <Reference>LHX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30921">
+                <Source>HGNC</Source>
+                <Reference>6595</Reference>
+              </ExternalReference>
+              <ExternalReference id="30920">
+                <Source>OMIM</Source>
+                <Reference>600577</Reference>
+              </ExternalReference>
+              <ExternalReference id="33420">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBR4</Reference>
+              </ExternalReference>
+              <ExternalReference id="60364">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107187</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9123">
+                <GeneLocus>9q34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="4044">
+      <OrphaCode>1899</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1899</ExpertLink>
+      <Name lang="en">Arthrochalasia Ehlers-Danlos syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9295084[PMID]_8071956[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28094">
+                <Source>OMIM</Source>
+                <Reference>120160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
+              </ExternalReference>
+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
+              </ExternalReference>
+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28095">
+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8013">
+                <GeneLocus>7q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9295084[PMID]_1867198[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8011">
+                <GeneLocus>17q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="4048">
+      <OrphaCode>839</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=839</ExpertLink>
+      <Name lang="en">Congenital nephrotic syndrome, Finnish type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9660941[PMID]</SourceOfValidation>
+          <Gene id="16566">
+            <Name lang="en">NPHS1 adhesion molecule, nephrin</Name>
+            <Symbol>NPHS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNF</Synonym>
+              <Synonym lang="en">NPHN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161270</Reference>
+              </ExternalReference>
+              <ExternalReference id="31899">
+                <Source>Genatlas</Source>
+                <Reference>NPHS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31901">
+                <Source>HGNC</Source>
+                <Reference>7908</Reference>
+              </ExternalReference>
+              <ExternalReference id="31900">
+                <Source>OMIM</Source>
+                <Reference>602716</Reference>
+              </ExternalReference>
+              <ExternalReference id="58738">
+                <Source>Reactome</Source>
+                <Reference>O60500</Reference>
+              </ExternalReference>
+              <ExternalReference id="33631">
+                <Source>SwissProt</Source>
+                <Reference>O60500</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="18569">
+                <GeneLocus>19q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="4054">
+      <OrphaCode>531</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=531</ExpertLink>
+      <Name lang="en">Miller-Dieker syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10072440[PMID]_10655551[PMID]</SourceOfValidation>
+          <Gene id="16198">
+            <Name lang="en">HIC ZBTB transcriptional repressor 1</Name>
+            <Symbol>HIC1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ZBTB29</Synonym>
+              <Synonym lang="en">ZNF901</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177374</Reference>
+              </ExternalReference>
+              <ExternalReference id="37476">
+                <Source>Genatlas</Source>
+                <Reference>HIC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30178">
+                <Source>HGNC</Source>
+                <Reference>4909</Reference>
+              </ExternalReference>
+              <ExternalReference id="30177">
+                <Source>OMIM</Source>
+                <Reference>603825</Reference>
+              </ExternalReference>
+              <ExternalReference id="33216">
+                <Source>SwissProt</Source>
+                <Reference>Q14526</Reference>
+              </ExternalReference>
+              <ExternalReference id="143132">
+                <Source>Reactome</Source>
+                <Reference>Q14526</Reference>
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+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19584063[PMID]</SourceOfValidation>
+          <Gene id="20276">
+            <Name lang="en">tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon</Name>
+            <Symbol>YWHAE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">14-3-3 epsilon</Synonym>
+              <Synonym lang="en">FLJ45465</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108953</Reference>
+              </ExternalReference>
+              <ExternalReference id="52130">
+                <Source>Genatlas</Source>
+                <Reference>YWHAE</Reference>
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+              <ExternalReference id="52128">
+                <Source>HGNC</Source>
+                <Reference>12851</Reference>
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+              <ExternalReference id="52129">
+                <Source>OMIM</Source>
+                <Reference>605066</Reference>
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+              <ExternalReference id="60341">
+                <Source>Reactome</Source>
+                <Reference>P62258</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P62258</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12621583[PMID]</SourceOfValidation>
+          <Gene id="16604">
+            <Name lang="en">platelet activating factor acetylhydrolase 1b regulatory subunit 1</Name>
+            <Symbol>PAFAH1B1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LIS1</Synonym>
+              <Synonym lang="en">NudF</Synonym>
+              <Synonym lang="en">PAFAH</Synonym>
+              <Synonym lang="en">lissencephaly-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58740">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007168</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>PAFAH1B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8574</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601545</Reference>
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+              <ExternalReference id="58741">
+                <Source>Reactome</Source>
+                <Reference>P43034</Reference>
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+              <ExternalReference id="33669">
+                <Source>SwissProt</Source>
+                <Reference>P43034</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="4057">
+      <OrphaCode>452</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=452</ExpertLink>
+      <Name lang="en">X-linked lissencephaly with abnormal genitalia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12379852[PMID]_12874405[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="32966">
+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
+              </ExternalReference>
+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
+              </ExternalReference>
+              <ExternalReference id="28975">
+                <Source>Genatlas</Source>
+                <Reference>ARX</Reference>
+              </ExternalReference>
+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
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+              <ExternalReference id="28972">
+                <Source>OMIM</Source>
+                <Reference>300382</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xp21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19302">
+      <OrphaCode>238763</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238763</ExpertLink>
+      <Name lang="en">Glaucoma secondary to spherophakia/ectopia lentis and megalocornea</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20179738[PMID]_22025892[PMID]</SourceOfValidation>
+          <Gene id="18372">
+            <Name lang="en">latent transforming growth factor beta binding protein 2</Name>
+            <Symbol>LTBP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119681</Reference>
+              </ExternalReference>
+              <ExternalReference id="41813">
+                <Source>Genatlas</Source>
+                <Reference>LTBP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="41814">
+                <Source>HGNC</Source>
+                <Reference>6715</Reference>
+              </ExternalReference>
+              <ExternalReference id="41815">
+                <Source>OMIM</Source>
+                <Reference>602091</Reference>
+              </ExternalReference>
+              <ExternalReference id="83138">
+                <Source>Reactome</Source>
+                <Reference>Q14767</Reference>
+              </ExternalReference>
+              <ExternalReference id="41816">
+                <Source>SwissProt</Source>
+                <Reference>Q14767</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10699">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19298">
+      <OrphaCode>238722</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238722</ExpertLink>
+      <Name lang="en">Familial congenital mirror movements</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25098561[PMID]</SourceOfValidation>
+          <Gene id="26045">
+            <Name lang="en">dynein axonemal light chain 4</Name>
+            <Symbol>DNAL4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PIG27</Synonym>
+              <Synonym lang="en">dJ327J16</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="151247">
+                <Source>SwissProt</Source>
+                <Reference>O96015</Reference>
+              </ExternalReference>
+              <ExternalReference id="151248">
+                <Source>OMIM</Source>
+                <Reference>610565</Reference>
+              </ExternalReference>
+              <ExternalReference id="151245">
+                <Source>HGNC</Source>
+                <Reference>2955</Reference>
+              </ExternalReference>
+              <ExternalReference id="151246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100246</Reference>
+              </ExternalReference>
+              <ExternalReference id="151249">
+                <Source>Genatlas</Source>
+                <Reference>DNAL4</Reference>
+              </ExternalReference>
+              <ExternalReference id="151250">
+                <Source>Reactome</Source>
+                <Reference>O96015</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22305526[PMID]</SourceOfValidation>
+          <Gene id="15183">
+            <Name lang="en">RAD51 recombinase</Name>
+            <Symbol>RAD51</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 5</Synonym>
+              <Synonym lang="en">BRCC5</Synonym>
+              <Synonym lang="en">FANCR</Synonym>
+              <Synonym lang="en">HsRad51</Synonym>
+              <Synonym lang="en">HsT16930</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58596">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000051180</Reference>
+              </ExternalReference>
+              <ExternalReference id="37325">
+                <Source>Genatlas</Source>
+                <Reference>RAD51</Reference>
+              </ExternalReference>
+              <ExternalReference id="25305">
+                <Source>HGNC</Source>
+                <Reference>9817</Reference>
+              </ExternalReference>
+              <ExternalReference id="25304">
+                <Source>OMIM</Source>
+                <Reference>179617</Reference>
+              </ExternalReference>
+              <ExternalReference id="58597">
+                <Source>Reactome</Source>
+                <Reference>Q06609</Reference>
+              </ExternalReference>
+              <ExternalReference id="33707">
+                <Source>SwissProt</Source>
+                <Reference>Q06609</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6933">
+                <GeneLocus>15q15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20431009[PMID]</SourceOfValidation>
+          <Gene id="19499">
+            <Name lang="en">DCC netrin 1 receptor</Name>
+            <Symbol>DCC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IGDCC1</Synonym>
+              <Synonym lang="en">NTN1R1</Synonym>
+              <Synonym lang="en">immunoglobulin superfamily, DCC subclass, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60425">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187323</Reference>
+              </ExternalReference>
+              <ExternalReference id="49585">
+                <Source>Genatlas</Source>
+                <Reference>DCC</Reference>
+              </ExternalReference>
+              <ExternalReference id="49586">
+                <Source>HGNC</Source>
+                <Reference>2701</Reference>
+              </ExternalReference>
+              <ExternalReference id="49588">
+                <Source>OMIM</Source>
+                <Reference>120470</Reference>
+              </ExternalReference>
+              <ExternalReference id="60426">
+                <Source>Reactome</Source>
+                <Reference>P43146</Reference>
+              </ExternalReference>
+              <ExternalReference id="49587">
+                <Source>SwissProt</Source>
+                <Reference>P43146</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>18q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28945198[PMID]</SourceOfValidation>
+          <Gene id="24771">
+            <Name lang="en">netrin 1</Name>
+            <Symbol>NTN1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NTN1L</Synonym>
+              <Synonym lang="en">Netrin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143247">
+                <Source>Genatlas</Source>
+                <Reference>NTN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="134446">
+                <Source>Reactome</Source>
+                <Reference>O95631</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8029</Reference>
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+              <ExternalReference id="132318">
+                <Source>OMIM</Source>
+                <Reference>601614</Reference>
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+              <ExternalReference id="134103">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065320</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95631</Reference>
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+                <GeneLocus>17p13.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19305">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238769</ExpertLink>
+      <Name lang="en">1q44 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">heterogeneous nuclear ribonucleoprotein U</Name>
+            <Symbol>HNRNPU</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ30202</Synonym>
+              <Synonym lang="en">FLJ37978</Synonym>
+              <Synonym lang="en">SAF-A</Synonym>
+              <Synonym lang="en">scaffold attachment factor A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131419">
+                <Source>HGNC</Source>
+                <Reference>5048</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q00839</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HNRNPU</Reference>
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+              <ExternalReference id="132877">
+                <Source>SwissProt</Source>
+                <Reference>Q00839</Reference>
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+              <ExternalReference id="134072">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153187</Reference>
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+              <ExternalReference id="132154">
+                <Source>OMIM</Source>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19269">
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+      <Name lang="en">Combined immunodeficiency due to CD27 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="22186">
+            <Name lang="en">CD27 molecule</Name>
+            <Symbol>CD27</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S152</Synonym>
+              <Synonym lang="en">Tp55</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83887">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139193</Reference>
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+              <ExternalReference id="80062">
+                <Source>Genatlas</Source>
+                <Reference>CD27</Reference>
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+                <Reference>11922</Reference>
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+                <Reference>186711</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P26842</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P26842</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">Familial hypercholanemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>12878321[PMID]_25992604[PMID]</SourceOfValidation>
+          <Gene id="15985">
+            <Name lang="en">epoxide hydrolase 1</Name>
+            <Symbol>EPHX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58127">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143819</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EPHX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3401</Reference>
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+                <Source>OMIM</Source>
+                <Reference>132810</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P07099</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="19466">
+            <Name lang="en">tight junction protein 2</Name>
+            <Symbol>TJP2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Friedreich ataxia region gene X104 (tight junction protein ZO-2)</Synonym>
+              <Synonym lang="en">X104</Synonym>
+              <Synonym lang="en">ZO-2</Synonym>
+              <Synonym lang="en">ZO2</Synonym>
+              <Synonym lang="en">zona occludens 2</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119139</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TJP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11828</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UDY2</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12704386[PMID]</SourceOfValidation>
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+            <Name lang="en">bile acid-CoA:amino acid N-acyltransferase</Name>
+            <Symbol>BAAT</Symbol>
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+              <Synonym lang="en">BAT</Synonym>
+              <Synonym lang="en">glycine N-choloyltransferase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136881</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q14032</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+          <SourceOfValidation>28835676[PMID]</SourceOfValidation>
+          <Gene id="25425">
+            <Name lang="en">solute carrier family 10 member 1</Name>
+            <Symbol>SLC10A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NTCP</Synonym>
+              <Synonym lang="en">Na+/taurocholate cotransporting polypeptide</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>959</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10905</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100652</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14973</Reference>
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+                <Reference>182396</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC10A1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14973</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19264">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238455</ExpertLink>
+      <Name lang="en">Infantile dystonia-parkinsonism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19492">
+            <Name lang="en">solute carrier family 6 member 3</Name>
+            <Symbol>SLC6A3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DAT</Synonym>
+              <Synonym lang="en">dopamine transporter</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142319</Reference>
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+              <ExternalReference id="49530">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A3</Reference>
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+              <ExternalReference id="49529">
+                <Source>HGNC</Source>
+                <Reference>11049</Reference>
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+              <ExternalReference id="87995">
+                <Source>IUPHAR</Source>
+                <Reference>927</Reference>
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+                <Source>OMIM</Source>
+                <Reference>126455</Reference>
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+              <ExternalReference id="60416">
+                <Source>Reactome</Source>
+                <Reference>Q01959</Reference>
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+              <ExternalReference id="49532">
+                <Source>SwissProt</Source>
+                <Reference>Q01959</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19265">
+      <OrphaCode>238459</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238459</ExpertLink>
+      <Name lang="en">SLC35A1-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="16875">
+            <Name lang="en">solute carrier family 35 member A1</Name>
+            <Symbol>SLC35A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMPST</Synonym>
+              <Synonym lang="en">hCST</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164414</Reference>
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+              <ExternalReference id="35334">
+                <Source>Genatlas</Source>
+                <Reference>SLC35A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11021</Reference>
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+              <ExternalReference id="35333">
+                <Source>OMIM</Source>
+                <Reference>605634</Reference>
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+              <ExternalReference id="60418">
+                <Source>Reactome</Source>
+                <Reference>P78382</Reference>
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+              <ExternalReference id="35332">
+                <Source>SwissProt</Source>
+                <Reference>P78382</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>238578</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238578</ExpertLink>
+      <Name lang="en">Familial clubfoot due to 17q23.1q23.2 microduplication</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20598276[PMID]</SourceOfValidation>
+          <Gene id="15588">
+            <Name lang="en">T-box transcription factor 4</Name>
+            <Symbol>TBX4</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121075</Reference>
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+              <ExternalReference id="27247">
+                <Source>Genatlas</Source>
+                <Reference>TBX4</Reference>
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+              <ExternalReference id="27249">
+                <Source>HGNC</Source>
+                <Reference>11603</Reference>
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+              <ExternalReference id="27248">
+                <Source>OMIM</Source>
+                <Reference>601719</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P57082</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19276">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238557</ExpertLink>
+      <Name lang="en">Chuvash erythrocytosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">von Hippel-Lindau tumor suppressor</Name>
+            <Symbol>VHL</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134086</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>VHL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12687</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608537</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P40337</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40337</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome</Name>
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+            <Name lang="en">interleukin 10</Name>
+            <Symbol>IL10</Symbol>
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+              <Synonym lang="en">IL10A</Synonym>
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+              <Synonym lang="en">TGIF</Synonym>
+              <Synonym lang="en">cytokine synthesis inhibitory factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136634</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>5962</Reference>
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+                <Reference>124092</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>22549091[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CDW210A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110324</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>5964</Reference>
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+                <Source>OMIM</Source>
+                <Reference>146933</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13651</Reference>
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+              <ExternalReference id="190441">
+                <Source>IUPHAR</Source>
+                <Reference>1727</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13651</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22549091[PMID]</SourceOfValidation>
+          <Gene id="19498">
+            <Name lang="en">interleukin 10 receptor subunit beta</Name>
+            <Symbol>IL10RB</Symbol>
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+              <Synonym lang="en">CRF2-4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q08334</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000243646</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IL10RB</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q08334</Reference>
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+                <Reference>1728</Reference>
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+      <Name lang="en">Atypical hypotonia-cystinuria syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 3 member 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138079</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>104614</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q07837</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q07837</Reference>
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+                <Reference>889</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17586">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138078</Reference>
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+                <Reference>Q4J6C6</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18234729[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CaM KMT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143919</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C2orf34</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26276</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19283">
+      <OrphaCode>238616</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238616</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Alzheimer disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25382023[PMID]</SourceOfValidation>
+          <Gene id="21201">
+            <Name lang="en">sortilin related receptor 1</Name>
+            <Symbol>SORL1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">LDLR relative with 11 ligand-binding repeats</Synonym>
+              <Synonym lang="en">LR11</Synonym>
+              <Synonym lang="en">LRP9</Synonym>
+              <Synonym lang="en">SorLA</Synonym>
+              <Synonym lang="en">SorLA-1</Synonym>
+              <Synonym lang="en">gp250</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126410">
+                <Source>Reactome</Source>
+                <Reference>Q92673</Reference>
+              </ExternalReference>
+              <ExternalReference id="83445">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137642</Reference>
+              </ExternalReference>
+              <ExternalReference id="70348">
+                <Source>Genatlas</Source>
+                <Reference>SORL1</Reference>
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+              <ExternalReference id="70346">
+                <Source>HGNC</Source>
+                <Reference>11185</Reference>
+              </ExternalReference>
+              <ExternalReference id="70347">
+                <Source>OMIM</Source>
+                <Reference>602005</Reference>
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+              <ExternalReference id="70349">
+                <Source>SwissProt</Source>
+                <Reference>Q92673</Reference>
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+            <LocusList count="1">
+              <Locus id="26805">
+                <GeneLocus>11q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25807283[PMID]</SourceOfValidation>
+          <Gene id="25991">
+            <Name lang="en">ATP binding cassette subfamily A member 7</Name>
+            <Symbol>ABCA7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ABCX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="150893">
+                <Source>HGNC</Source>
+                <Reference>37</Reference>
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+              <ExternalReference id="150894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064687</Reference>
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+              <ExternalReference id="150895">
+                <Source>SwissProt</Source>
+                <Reference>Q8IZY2</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605414</Reference>
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+              <ExternalReference id="150897">
+                <Source>Genatlas</Source>
+                <Reference>ABCA7</Reference>
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+              <ExternalReference id="150898">
+                <Source>Reactome</Source>
+                <Reference>Q8IZY2</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>762</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23150934[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58272">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
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+              <ExternalReference id="37386">
+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
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+              <ExternalReference id="27568">
+                <Source>HGNC</Source>
+                <Reference>17761</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605086</Reference>
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+              <ExternalReference id="58273">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZC2</Reference>
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+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24162737[PMID]</SourceOfValidation>
+          <Gene id="15940">
+            <Name lang="en">apolipoprotein E</Name>
+            <Symbol>APOE</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58494">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130203</Reference>
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+              <ExternalReference id="28903">
+                <Source>Genatlas</Source>
+                <Reference>APOE</Reference>
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+                <Source>HGNC</Source>
+                <Reference>613</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107741</Reference>
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+              <ExternalReference id="58495">
+                <Source>Reactome</Source>
+                <Reference>P02649</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02649</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19282">
+      <OrphaCode>238613</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238613</ExpertLink>
+      <Name lang="en">Beckwith-Wiedemann syndrome due to NSD1 mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14997421[PMID]</SourceOfValidation>
+          <Gene id="16577">
+            <Name lang="en">nuclear receptor binding SET domain protein 1</Name>
+            <Symbol>NSD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ARA267</Synonym>
+              <Synonym lang="en">FLJ22263</Synonym>
+              <Synonym lang="en">KMT3B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190384">
+                <Source>IUPHAR</Source>
+                <Reference>2696</Reference>
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+              <ExternalReference id="57400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165671</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NSD1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14234</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606681</Reference>
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+              <ExternalReference id="97245">
+                <Source>Reactome</Source>
+                <Reference>Q96L73</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96L73</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="19293">
+      <OrphaCode>238670</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=238670</ExpertLink>
+      <Name lang="en">Isolated thyrotropin-releasing hormone deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20687402[PMID]</SourceOfValidation>
+          <Gene id="15657">
+            <Name lang="en">thyrotropin releasing hormone</Name>
+            <Symbol>TRH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prothyroliberin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59921">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170893</Reference>
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+              <ExternalReference id="27576">
+                <Source>Genatlas</Source>
+                <Reference>TRH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12298</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613879</Reference>
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+              <ExternalReference id="59922">
+                <Source>Reactome</Source>
+                <Reference>P20396</Reference>
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+              <ExternalReference id="32629">
+                <Source>SwissProt</Source>
+                <Reference>P20396</Reference>
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+              <Locus id="26555">
+                <GeneLocus>3q22.1</GeneLocus>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Classic progressive supranuclear palsy syndrome</Name>
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+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
+              <Synonym lang="en">MGC138549</Synonym>
+              <Synonym lang="en">MSTD</Synonym>
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+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
+              <Synonym lang="en">tau-40</Synonym>
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+              <ExternalReference id="57723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186868</Reference>
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+              <ExternalReference id="31032">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6893</Reference>
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+                <Reference>157140</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
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+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
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+                <Reference>ENSG00000186868</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Reference>6893</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
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+          <Gene id="16379">
+            <Name lang="en">microtubule associated protein tau</Name>
+            <Symbol>MAPT</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">FLJ31424</Synonym>
+              <Synonym lang="en">FTDP-17</Synonym>
+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
+              <Synonym lang="en">MGC138549</Synonym>
+              <Synonym lang="en">MSTD</Synonym>
+              <Synonym lang="en">MTBT1</Synonym>
+              <Synonym lang="en">MTBT2</Synonym>
+              <Synonym lang="en">PPND</Synonym>
+              <Synonym lang="en">PPP1R103</Synonym>
+              <Synonym lang="en">TAU</Synonym>
+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
+              <Synonym lang="en">tau-40</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186868</Reference>
+              </ExternalReference>
+              <ExternalReference id="31032">
+                <Source>Genatlas</Source>
+                <Reference>MAPT</Reference>
+              </ExternalReference>
+              <ExternalReference id="31030">
+                <Source>HGNC</Source>
+                <Reference>6893</Reference>
+              </ExternalReference>
+              <ExternalReference id="31029">
+                <Source>OMIM</Source>
+                <Reference>157140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57724">
+                <Source>Reactome</Source>
+                <Reference>P10636</Reference>
+              </ExternalReference>
+              <ExternalReference id="33443">
+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21499">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="19332">
+      <OrphaCode>240085</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=240085</ExpertLink>
+      <Name lang="en">Progressive supranuclear palsy-parkinsonism syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16379">
+            <Name lang="en">microtubule associated protein tau</Name>
+            <Symbol>MAPT</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">FLJ31424</Synonym>
+              <Synonym lang="en">FTDP-17</Synonym>
+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
+              <Synonym lang="en">MGC138549</Synonym>
+              <Synonym lang="en">MSTD</Synonym>
+              <Synonym lang="en">MTBT1</Synonym>
+              <Synonym lang="en">MTBT2</Synonym>
+              <Synonym lang="en">PPND</Synonym>
+              <Synonym lang="en">PPP1R103</Synonym>
+              <Synonym lang="en">TAU</Synonym>
+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
+              <Synonym lang="en">tau-40</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186868</Reference>
+              </ExternalReference>
+              <ExternalReference id="31032">
+                <Source>Genatlas</Source>
+                <Reference>MAPT</Reference>
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+              <ExternalReference id="31030">
+                <Source>HGNC</Source>
+                <Reference>6893</Reference>
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+              <ExternalReference id="31029">
+                <Source>OMIM</Source>
+                <Reference>157140</Reference>
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+              <ExternalReference id="57724">
+                <Source>Reactome</Source>
+                <Reference>P10636</Reference>
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+              <ExternalReference id="33443">
+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="19345">
+      <OrphaCode>240760</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=240760</ExpertLink>
+      <Name lang="en">Nijmegen breakage syndrome-like disorder</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21227757[PMID]</SourceOfValidation>
+          <Gene id="16465">
+            <Name lang="en">MRE11 homolog, double strand break repair nuclease</Name>
+            <Symbol>MRE11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AT-like disease</Synonym>
+              <Synonym lang="en">ATLD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000020922</Reference>
+              </ExternalReference>
+              <ExternalReference id="31428">
+                <Source>Genatlas</Source>
+                <Reference>MRE11A</Reference>
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+              <ExternalReference id="31430">
+                <Source>HGNC</Source>
+                <Reference>7230</Reference>
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+              <ExternalReference id="31429">
+                <Source>OMIM</Source>
+                <Reference>600814</Reference>
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+              <ExternalReference id="60475">
+                <Source>Reactome</Source>
+                <Reference>P49959</Reference>
+              </ExternalReference>
+              <ExternalReference id="33530">
+                <Source>SwissProt</Source>
+                <Reference>P49959</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11q21</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19409520[PMID]</SourceOfValidation>
+          <Gene id="19459">
+            <Name lang="en">RAD50 double strand break repair protein</Name>
+            <Symbol>RAD50</Symbol>
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+              <Synonym lang="en">RAD50-2</Synonym>
+              <Synonym lang="en">hRad50</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60428">
+                <Source>Reactome</Source>
+                <Reference>Q92878</Reference>
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+              <ExternalReference id="48309">
+                <Source>SwissProt</Source>
+                <Reference>Q92878</Reference>
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+              <ExternalReference id="60427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113522</Reference>
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+              <ExternalReference id="48307">
+                <Source>Genatlas</Source>
+                <Reference>RAD50</Reference>
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+              <ExternalReference id="48308">
+                <Source>HGNC</Source>
+                <Reference>9816</Reference>
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+                <Source>OMIM</Source>
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+                <GeneLocus>5q31.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22001">
+      <OrphaCode>331226</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=331226</ExpertLink>
+      <Name lang="en">Susceptibility to infection due to TYK2 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17088085[PMID]_17521577[PMID]</SourceOfValidation>
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+            <Name lang="en">tyrosine kinase 2</Name>
+            <Symbol>TYK2</Symbol>
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+              <Synonym lang="en">JTK1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58909">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105397</Reference>
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+              <ExternalReference id="36484">
+                <Source>Genatlas</Source>
+                <Reference>TYK2</Reference>
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+                <Reference>12440</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2269</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176941</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P29597</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P29597</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">glucose-6-phosphatase catalytic subunit 3</Name>
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+                <Reference>ENSG00000141349</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+    <Disorder id="21994">
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+      <Name lang="en">Immunodeficiency due to MASP-2 deficiency</Name>
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+            <Name lang="en">MBL associated serine protease 2</Name>
+            <Symbol>MASP2</Symbol>
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+              <Synonym lang="en">mannose-binding lectin associated protein 19</Synonym>
+              <Synonym lang="en">mannose-binding lectin-associated serine protease 2</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009724</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MASP2</Reference>
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+                <Reference>6902</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O00187</Reference>
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+      <Name lang="en">Immunodeficiency due to ficolin3 deficiency</Name>
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+            <Symbol>FCN3</Symbol>
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+              <Synonym lang="en">Hakata antigen</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000142748</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Severe combined immunodeficiency due to complete RAG1/2 deficiency</Name>
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+                <Source>Reactome</Source>
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+                <Reference>RAG2</Reference>
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+              <ExternalReference id="25315">
+                <Source>HGNC</Source>
+                <Reference>9832</Reference>
+              </ExternalReference>
+              <ExternalReference id="25314">
+                <Source>OMIM</Source>
+                <Reference>179616</Reference>
+              </ExternalReference>
+              <ExternalReference id="97161">
+                <Source>Reactome</Source>
+                <Reference>P55895</Reference>
+              </ExternalReference>
+              <ExternalReference id="33709">
+                <Source>SwissProt</Source>
+                <Reference>P55895</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="69353">
+                <GeneLocus>11p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21962">
+      <OrphaCode>330032</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=330032</ExpertLink>
+      <Name lang="en">Hemoglobin Lepore-beta-thalassemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18932069[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
+              </ExternalReference>
+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
+              </ExternalReference>
+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
+              </ExternalReference>
+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18932069[PMID]</SourceOfValidation>
+          <Gene id="20551">
+            <Name lang="en">hemoglobin subunit delta</Name>
+            <Symbol>HBD</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60398">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000223609</Reference>
+              </ExternalReference>
+              <ExternalReference id="54345">
+                <Source>Genatlas</Source>
+                <Reference>HBD</Reference>
+              </ExternalReference>
+              <ExternalReference id="54343">
+                <Source>HGNC</Source>
+                <Reference>4829</Reference>
+              </ExternalReference>
+              <ExternalReference id="54344">
+                <Source>OMIM</Source>
+                <Reference>142000</Reference>
+              </ExternalReference>
+              <ExternalReference id="60399">
+                <Source>Reactome</Source>
+                <Reference>P02042</Reference>
+              </ExternalReference>
+              <ExternalReference id="54346">
+                <Source>SwissProt</Source>
+                <Reference>P02042</Reference>
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+            </ExternalReferenceList>
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+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21963">
+      <OrphaCode>330041</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=330041</ExpertLink>
+      <Name lang="en">Hemoglobin M disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8416301[PMID]_25031065[PMID]</SourceOfValidation>
+          <Gene id="16185">
+            <Name lang="en">hemoglobin subunit alpha 2</Name>
+            <Symbol>HBA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBA-T2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59724">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188536</Reference>
+              </ExternalReference>
+              <ExternalReference id="37120">
+                <Source>Genatlas</Source>
+                <Reference>HBA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30117">
+                <Source>HGNC</Source>
+                <Reference>4824</Reference>
+              </ExternalReference>
+              <ExternalReference id="30116">
+                <Source>OMIM</Source>
+                <Reference>141850</Reference>
+              </ExternalReference>
+              <ExternalReference id="82948">
+                <Source>Reactome</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
+              <ExternalReference id="33204">
+                <Source>SwissProt</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8416301[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
+              </ExternalReference>
+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
+              </ExternalReference>
+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
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+                <GeneLocus>11p15.4</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8416301[PMID]_3026948[PMID]</SourceOfValidation>
+          <Gene id="16819">
+            <Name lang="en">hemoglobin subunit alpha 1</Name>
+            <Symbol>HBA1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206172</Reference>
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+              <ExternalReference id="35102">
+                <Source>Genatlas</Source>
+                <Reference>HBA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4823</Reference>
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+              <ExternalReference id="35101">
+                <Source>OMIM</Source>
+                <Reference>141800</Reference>
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+              <ExternalReference id="83037">
+                <Source>Reactome</Source>
+                <Reference>P69905</Reference>
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+              <ExternalReference id="35103">
+                <Source>SwissProt</Source>
+                <Reference>P69905</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+            <Name lang="en">dynamin 1 like</Name>
+            <Symbol>DNM1L</Symbol>
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+              <Synonym lang="en">DYMPLE</Synonym>
+              <Synonym lang="en">HDYNIV</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087470</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DNM1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2973</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O00429</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">growth factor, augmenter of liver regeneration</Name>
+            <Symbol>GFER</Symbol>
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+              <Synonym lang="en">ERV1 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">FAD-linked sulfhydryl oxidase ALR</Synonym>
+              <Synonym lang="en">HERV1</Synonym>
+              <Synonym lang="en">HPO1</Synonym>
+              <Synonym lang="en">HPO2</Synonym>
+              <Synonym lang="en">HSS</Synonym>
+              <Synonym lang="en">hepatic regenerative stimulation substance</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127554</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>NIPBL</Symbol>
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+              <Synonym lang="en">DKFZp434L1319</Synonym>
+              <Synonym lang="en">FLJ11203</Synonym>
+              <Synonym lang="en">FLJ12597</Synonym>
+              <Synonym lang="en">FLJ13354</Synonym>
+              <Synonym lang="en">FLJ13648</Synonym>
+              <Synonym lang="en">IDN3</Synonym>
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+              <Synonym lang="en">sister chromatid cohesion 2 homolog (yeast)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164190</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NIPBL</Reference>
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+                <Reference>28862</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spastic paraplegia-Paget disease of bone syndrome</Name>
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+            <Name lang="en">valosin containing protein</Name>
+            <Symbol>VCP</Symbol>
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+              <Synonym lang="en">IBMPFD</Synonym>
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+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165280</Reference>
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+                <Reference>VCP</Reference>
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+                <Reference>12666</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Lipoprotein glomerulopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">apolipoprotein E</Name>
+            <Symbol>APOE</Symbol>
+            <SynonymList count="0">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130203</Reference>
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+              <ExternalReference id="28903">
+                <Source>Genatlas</Source>
+                <Reference>APOE</Reference>
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+              <ExternalReference id="28901">
+                <Source>HGNC</Source>
+                <Reference>613</Reference>
+              </ExternalReference>
+              <ExternalReference id="28900">
+                <Source>OMIM</Source>
+                <Reference>107741</Reference>
+              </ExternalReference>
+              <ExternalReference id="58495">
+                <Source>Reactome</Source>
+                <Reference>P02649</Reference>
+              </ExternalReference>
+              <ExternalReference id="32951">
+                <Source>SwissProt</Source>
+                <Reference>P02649</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26363">
+                <GeneLocus>19q13.32</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="21938">
+      <OrphaCode>329478</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329478</ExpertLink>
+      <Name lang="en">Adult-onset distal myopathy due to VCP mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21684747[PMID]</SourceOfValidation>
+          <Gene id="15706">
+            <Name lang="en">valosin containing protein</Name>
+            <Symbol>VCP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDC48</Synonym>
+              <Synonym lang="en">IBMPFD</Synonym>
+              <Synonym lang="en">TERA</Synonym>
+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56814">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165280</Reference>
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+              <ExternalReference id="27809">
+                <Source>Genatlas</Source>
+                <Reference>VCP</Reference>
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+              <ExternalReference id="27807">
+                <Source>HGNC</Source>
+                <Reference>12666</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601023</Reference>
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+              <ExternalReference id="87972">
+                <Source>Reactome</Source>
+                <Reference>P55072</Reference>
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+              <ExternalReference id="32678">
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+                <Reference>P55072</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21948">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329931</ExpertLink>
+      <Name lang="en">C3 glomerulonephritis</Name>
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+        <Name lang="en">Histopathological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>23728178[PMID]</SourceOfValidation>
+          <Gene id="20682">
+            <Name lang="en">complement factor H related 1</Name>
+            <Symbol>CFHR1</Symbol>
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+              <Synonym lang="en">CFHL</Synonym>
+              <Synonym lang="en">FHR1</Synonym>
+              <Synonym lang="en">H36-1</Synonym>
+              <Synonym lang="en">H36-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244414</Reference>
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+              <ExternalReference id="54993">
+                <Source>Genatlas</Source>
+                <Reference>CFHR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4888</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134371</Reference>
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+              <ExternalReference id="54994">
+                <Source>SwissProt</Source>
+                <Reference>Q03591</Reference>
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+              <ExternalReference id="143815">
+                <Source>Reactome</Source>
+                <Reference>Q03591</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20800271[PMID]_22503529[PMID]_23026947[PMID]</SourceOfValidation>
+          <Gene id="20684">
+            <Name lang="en">complement factor H related 5</Name>
+            <Symbol>CFHR5</Symbol>
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+              <Synonym lang="en">FHR-5</Synonym>
+              <Synonym lang="en">FHR5</Synonym>
+              <Synonym lang="en">Factor H related protein 5</Synonym>
+              <Synonym lang="en">factor H related protein 5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57682">
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+                <Reference>ENSG00000134389</Reference>
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+              <ExternalReference id="55003">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>24668</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BXR6</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BXR6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22626820[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000116785</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q02985</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q02985</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080910</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">TNF receptor superfamily member 1A</Name>
+            <Symbol>TNFRSF1A</Symbol>
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+              <Synonym lang="en">TNF-R</Synonym>
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+              <Synonym lang="en">TNF-R55</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+    <Disorder id="21946">
+      <OrphaCode>329903</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329903</ExpertLink>
+      <Name lang="en">Immunoglobulin-mediated membranoproliferative glomerulonephritis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21396679[PMID]</SourceOfValidation>
+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
+            <Symbol>CFH</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ARMD4</Synonym>
+              <Synonym lang="en">ARMS1</Synonym>
+              <Synonym lang="en">FHL1</Synonym>
+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000000971</Reference>
+              </ExternalReference>
+              <ExternalReference id="26516">
+                <Source>Genatlas</Source>
+                <Reference>CFH</Reference>
+              </ExternalReference>
+              <ExternalReference id="26514">
+                <Source>HGNC</Source>
+                <Reference>4883</Reference>
+              </ExternalReference>
+              <ExternalReference id="26513">
+                <Source>OMIM</Source>
+                <Reference>134370</Reference>
+              </ExternalReference>
+              <ExternalReference id="58481">
+                <Source>Reactome</Source>
+                <Reference>P08603</Reference>
+              </ExternalReference>
+              <ExternalReference id="32406">
+                <Source>SwissProt</Source>
+                <Reference>P08603</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20957">
+                <GeneLocus>1q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23274426[PMID]</SourceOfValidation>
+          <Gene id="21984">
+            <Name lang="en">diacylglycerol kinase epsilon</Name>
+            <Symbol>DGKE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DAGK6</Synonym>
+              <Synonym lang="en">DGK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153933</Reference>
+              </ExternalReference>
+              <ExternalReference id="78336">
+                <Source>Genatlas</Source>
+                <Reference>DGKE</Reference>
+              </ExternalReference>
+              <ExternalReference id="78334">
+                <Source>HGNC</Source>
+                <Reference>2852</Reference>
+              </ExternalReference>
+              <ExternalReference id="78335">
+                <Source>OMIM</Source>
+                <Reference>601440</Reference>
+              </ExternalReference>
+              <ExternalReference id="83738">
+                <Source>Reactome</Source>
+                <Reference>P52429</Reference>
+              </ExternalReference>
+              <ExternalReference id="78337">
+                <Source>SwissProt</Source>
+                <Reference>P52429</Reference>
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+            <LocusList count="1">
+              <Locus id="12467">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21924">
+      <OrphaCode>329308</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329308</ExpertLink>
+      <Name lang="en">Fatty acid hydroxylase-associated neurodegeneration</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20853438[PMID]</SourceOfValidation>
+          <Gene id="18006">
+            <Name lang="en">fatty acid 2-hydroxylase</Name>
+            <Symbol>FA2H</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAAH</Synonym>
+              <Synonym lang="en">FLJ25287</Synonym>
+              <Synonym lang="en">fatty acid hydroxylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59000">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103089</Reference>
+              </ExternalReference>
+              <ExternalReference id="40698">
+                <Source>Genatlas</Source>
+                <Reference>FA2H</Reference>
+              </ExternalReference>
+              <ExternalReference id="40699">
+                <Source>HGNC</Source>
+                <Reference>21197</Reference>
+              </ExternalReference>
+              <ExternalReference id="40700">
+                <Source>OMIM</Source>
+                <Reference>611026</Reference>
+              </ExternalReference>
+              <ExternalReference id="97276">
+                <Source>Reactome</Source>
+                <Reference>Q7L5A8</Reference>
+              </ExternalReference>
+              <ExternalReference id="40701">
+                <Source>SwissProt</Source>
+                <Reference>Q7L5A8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="23379">
+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21925">
+      <OrphaCode>329314</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329314</ExpertLink>
+      <Name lang="en">Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23043144[PMID]</SourceOfValidation>
+          <Gene id="15860">
+            <Name lang="en">deoxyguanosine kinase</Name>
+            <Symbol>DGUOK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">dGK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114956</Reference>
+              </ExternalReference>
+              <ExternalReference id="28535">
+                <Source>Genatlas</Source>
+                <Reference>DGUOK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28533">
+                <Source>HGNC</Source>
+                <Reference>2858</Reference>
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+              <ExternalReference id="28532">
+                <Source>OMIM</Source>
+                <Reference>601465</Reference>
+              </ExternalReference>
+              <ExternalReference id="60543">
+                <Source>Reactome</Source>
+                <Reference>Q16854</Reference>
+              </ExternalReference>
+              <ExternalReference id="32871">
+                <Source>SwissProt</Source>
+                <Reference>Q16854</Reference>
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+              <Locus id="22425">
+                <GeneLocus>2p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="21926">
+      <OrphaCode>329319</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329319</ExpertLink>
+      <Name lang="en">Thrombocythemia with distal limb defects</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19553636[PMID]</SourceOfValidation>
+          <Gene id="15617">
+            <Name lang="en">thrombopoietin</Name>
+            <Symbol>THPO</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">MPL ligand</Synonym>
+              <Synonym lang="en">MPLLG</Synonym>
+              <Synonym lang="en">TPO</Synonym>
+              <Synonym lang="en">c-mpl ligand</Synonym>
+              <Synonym lang="en">megakaryocyte colony-stimulating factor</Synonym>
+              <Synonym lang="en">megakaryocyte growth and development factor</Synonym>
+              <Synonym lang="en">megakaryocyte stimulating factor</Synonym>
+              <Synonym lang="en">myeloproliferative leukemia virus oncogene ligand</Synonym>
+              <Synonym lang="en">prepro-thrombopoietin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090534</Reference>
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+              <ExternalReference id="27389">
+                <Source>Genatlas</Source>
+                <Reference>THPO</Reference>
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+              <ExternalReference id="27387">
+                <Source>HGNC</Source>
+                <Reference>11795</Reference>
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+              <ExternalReference id="27386">
+                <Source>OMIM</Source>
+                <Reference>600044</Reference>
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+              <ExternalReference id="59242">
+                <Source>Reactome</Source>
+                <Reference>P40225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40225</Reference>
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+              <Locus id="22319">
+                <GeneLocus>3q27.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="21922">
+      <OrphaCode>329284</OrphaCode>
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+      <Name lang="en">Beta-propeller protein-associated neurodegeneration</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23435086[PMID]</SourceOfValidation>
+          <Gene id="22015">
+            <Name lang="en">WD repeat domain 45</Name>
+            <Symbol>WDR45</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JM5</Synonym>
+              <Synonym lang="en">NBIA5</Synonym>
+              <Synonym lang="en">WIPI4</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="78540">
+                <Source>Genatlas</Source>
+                <Reference>WDR45</Reference>
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+              <ExternalReference id="78538">
+                <Source>HGNC</Source>
+                <Reference>28912</Reference>
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+              <ExternalReference id="78539">
+                <Source>OMIM</Source>
+                <Reference>300526</Reference>
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+              <ExternalReference id="97344">
+                <Source>Reactome</Source>
+                <Reference>Q9Y484</Reference>
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+              <ExternalReference id="78541">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y484</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196998</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="21933">
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+      <Name lang="en">Distal arthrogryposis type 5D</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23261301[PMID]</SourceOfValidation>
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+            <Name lang="en">endothelin converting enzyme like 1</Name>
+            <Symbol>ECEL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DINE</Synonym>
+              <Synonym lang="en">Damage induced neuronal endopeptidase</Synonym>
+              <Synonym lang="en">XCE</Synonym>
+              <Synonym lang="en">damage induced neuronal endopeptidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171551</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ECEL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3147</Reference>
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+              <ExternalReference id="78590">
+                <Source>OMIM</Source>
+                <Reference>605896</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95672</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Autosomal dominant focal dystonia, DYT25 type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">G protein subunit alpha L</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141404</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GNAL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4388</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139312</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Acute megakaryoblastic leukemia without Down syndrome</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23153540[PMID]</SourceOfValidation>
+          <Gene id="17743">
+            <Name lang="en">GLIS family zinc finger 2</Name>
+            <Symbol>GLIS2</Symbol>
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+              <Synonym lang="en">nephrocystin-7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9BZE0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126603</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GLIS2</Reference>
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+                <Reference>29450</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZE0</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23153540[PMID]</SourceOfValidation>
+          <Gene id="22017">
+            <Name lang="en">CBFA2/RUNX1 partner transcriptional co-repressor 3</Name>
+            <Symbol>CBFA2T3</Symbol>
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+              <Synonym lang="en">ETO2</Synonym>
+              <Synonym lang="en">MTG16</Synonym>
+              <Synonym lang="en">MTGR2</Synonym>
+              <Synonym lang="en">Myeloid translocation gene 8 and 16b</Synonym>
+              <Synonym lang="en">RUNX1T3</Synonym>
+              <Synonym lang="en">ZMYND4</Synonym>
+              <Synonym lang="en">myeloid translocation gene 8 and 16b</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129993</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CBFA2T3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1537</Reference>
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+              <ExternalReference id="78602">
+                <Source>OMIM</Source>
+                <Reference>603870</Reference>
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+              <ExternalReference id="78604">
+                <Source>SwissProt</Source>
+                <Reference>O75081</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16q24.3</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21930">
+      <OrphaCode>329336</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329336</ExpertLink>
+      <Name lang="en">Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23107649[PMID]</SourceOfValidation>
+          <Gene id="17734">
+            <Name lang="en">ribonucleotide reductase regulatory TP53 inducible subunit M2B</Name>
+            <Symbol>RRM2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p53R2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56737">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048392</Reference>
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+              <ExternalReference id="39297">
+                <Source>Genatlas</Source>
+                <Reference>RRM2B</Reference>
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+              <ExternalReference id="39298">
+                <Source>HGNC</Source>
+                <Reference>17296</Reference>
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+              <ExternalReference id="87983">
+                <Source>IUPHAR</Source>
+                <Reference>2754</Reference>
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+              <ExternalReference id="39299">
+                <Source>OMIM</Source>
+                <Reference>604712</Reference>
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+              <ExternalReference id="82668">
+                <Source>Reactome</Source>
+                <Reference>Q7LG56</Reference>
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+              <ExternalReference id="82614">
+                <Source>SwissProt</Source>
+                <Reference>Q7LG56</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26094573[PMID]</SourceOfValidation>
+          <Gene id="23312">
+            <Name lang="en">ribonuclease H1</Name>
+            <Symbol>RNASEH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RNase H1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96100">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171865</Reference>
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+              <ExternalReference id="96098">
+                <Source>Genatlas</Source>
+                <Reference>RNASEH1</Reference>
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+              <ExternalReference id="96096">
+                <Source>HGNC</Source>
+                <Reference>18466</Reference>
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+              <ExternalReference id="96097">
+                <Source>OMIM</Source>
+                <Reference>604123</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60930</Reference>
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+              <Locus id="21793">
+                <GeneLocus>2p25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21911">
+      <OrphaCode>329228</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329228</ExpertLink>
+      <Name lang="en">Microcephalic primordial dwarfism due to ZNF335 deficiency</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23178126[PMID]</SourceOfValidation>
+          <Gene id="22012">
+            <Name lang="en">zinc finger protein 335</Name>
+            <Symbol>ZNF335</Symbol>
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+              <Synonym lang="en">NIF-1</Synonym>
+              <Synonym lang="en">NRC-interacting factor 1</Synonym>
+              <Synonym lang="en">bA465L10.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198026</Reference>
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+              <ExternalReference id="78492">
+                <Source>Genatlas</Source>
+                <Reference>ZNF335</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15807</Reference>
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+              <ExternalReference id="78491">
+                <Source>OMIM</Source>
+                <Reference>610827</Reference>
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+              <ExternalReference id="98103">
+                <Source>Reactome</Source>
+                <Reference>Q9H4Z2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H4Z2</Reference>
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+              <Locus id="17817">
+                <GeneLocus>20q13.12</GeneLocus>
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+    <Disorder id="21910">
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+      <Name lang="en">Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23159249[PMID]</SourceOfValidation>
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+            <Symbol>PACS1</Symbol>
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+              <Synonym lang="en">FLJ10209</Synonym>
+              <Synonym lang="en">KIAA1175</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175115</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Cerebral sinovenous thrombosis</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58507">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180210</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="16014">
+            <Name lang="en">coagulation factor V</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">protein Z, vitamin K dependent plasma glycoprotein</Name>
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+      <Name lang="en">Autosomal dominant neovascular inflammatory vitreoretinopathy</Name>
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+            <Name lang="en">calpain 5</Name>
+            <Symbol>CAPN5</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149260</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CAPN5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1482</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128731</Reference>
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+                <Reference>605837</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95714</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Tall stature-long halluces-multiple extra-epiphyses syndrome</Name>
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+            <Name lang="en">natriuretic peptide receptor 2</Name>
+            <Symbol>NPR2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">GC-B</Synonym>
+              <Synonym lang="en">GUCY2B</Synonym>
+              <Synonym lang="en">guanylate cyclase 2B</Synonym>
+              <Synonym lang="en">guanylyl cyclase B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1748</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159899</Reference>
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+              <ExternalReference id="31909">
+                <Source>Genatlas</Source>
+                <Reference>NPR2</Reference>
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+              <ExternalReference id="31911">
+                <Source>HGNC</Source>
+                <Reference>7944</Reference>
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+                <Source>OMIM</Source>
+                <Reference>108961</Reference>
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+              <ExternalReference id="98072">
+                <Source>Reactome</Source>
+                <Reference>P20594</Reference>
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+              <ExternalReference id="33633">
+                <Source>SwissProt</Source>
+                <Reference>P20594</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="21904">
+      <OrphaCode>329178</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329178</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy with intellectual disability and severe epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23109149[PMID]</SourceOfValidation>
+          <Gene id="22008">
+            <Name lang="en">dolichyl-phosphate mannosyltransferase subunit 2, regulatory</Name>
+            <Symbol>DPM2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DPM synthase complex subunit</Synonym>
+              <Synonym lang="en">MGC111193</Synonym>
+              <Synonym lang="en">MGC21559</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Genatlas</Source>
+                <Reference>DPM2</Reference>
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+              <ExternalReference id="78443">
+                <Source>HGNC</Source>
+                <Reference>3006</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603564</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O94777</Reference>
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+              <ExternalReference id="78446">
+                <Source>SwissProt</Source>
+                <Reference>O94777</Reference>
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+              <ExternalReference id="83746">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136908</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="21919">
+      <OrphaCode>329258</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329258</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2Q</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23141294[PMID]</SourceOfValidation>
+          <Gene id="21730">
+            <Name lang="en">dehydrogenase E1 and transketolase domain containing 1</Name>
+            <Symbol>DHTKD1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2Q</Synonym>
+              <Synonym lang="en">DKFZP762M115</Synonym>
+              <Synonym lang="en">KIAA1630</Synonym>
+              <Synonym lang="en">MGC3090</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181192</Reference>
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+              <ExternalReference id="76086">
+                <Source>Genatlas</Source>
+                <Reference>DHTKD1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23537</Reference>
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+              <ExternalReference id="76085">
+                <Source>OMIM</Source>
+                <Reference>614984</Reference>
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+              <ExternalReference id="98101">
+                <Source>Reactome</Source>
+                <Reference>Q96HY7</Reference>
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+              <ExternalReference id="76087">
+                <Source>SwissProt</Source>
+                <Reference>Q96HY7</Reference>
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+      <Name lang="en">Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23160192[PMID]</SourceOfValidation>
+          <Gene id="20852">
+            <Name lang="en">SH2B adaptor protein 1</Name>
+            <Symbol>SH2B1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ30542</Synonym>
+              <Synonym lang="en">SH2-B homolog</Synonym>
+              <Synonym lang="en">SH2B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="61257">
+                <Source>HGNC</Source>
+                <Reference>30417</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608937</Reference>
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+              <ExternalReference id="83308">
+                <Source>Reactome</Source>
+                <Reference>Q9NRF2</Reference>
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+              <ExternalReference id="61260">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRF2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178188</Reference>
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+              <ExternalReference id="61259">
+                <Source>Genatlas</Source>
+                <Reference>SH2B1</Reference>
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+      <Name lang="en">Congenital chronic diarrhea with protein-losing enteropathy</Name>
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+          <SourceOfValidation>29661969[PMID]</SourceOfValidation>
+          <Gene id="27388">
+            <Name lang="en">plasmalemma vesicle associated protein</Name>
+            <Symbol>PLVAP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FELS</Synonym>
+              <Synonym lang="en">PV-1</Synonym>
+              <Synonym lang="en">PV1</Synonym>
+              <Synonym lang="en">fenestrated-endothelial linked structure protein; PV-1 protein</Synonym>
+              <Synonym lang="en">gp68</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="159526">
+                <Source>HGNC</Source>
+                <Reference>13635</Reference>
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+              <ExternalReference id="159527">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130300</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BX97</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607647</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PLVAP</Reference>
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+            <Name lang="en">diacylglycerol O-acyltransferase 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>DGAT1</Reference>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">X-linked central congenital hypothyroidism with late-onset testicular enlargement</Name>
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+            <Name lang="en">immunoglobulin superfamily member 1</Name>
+            <Symbol>IGSF1</Symbol>
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+              <Synonym lang="en">IGDC1</Synonym>
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+              <Synonym lang="en">KIAA0364</Synonym>
+              <Synonym lang="en">MGC75490</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N6C5</Reference>
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+      <Name lang="en">Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis</Name>
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+            <Name lang="en">RANBP2-type and C3HC4-type zinc finger containing 1</Name>
+            <Symbol>RBCK1</Symbol>
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+              <Synonym lang="en">Heme-oxidized IRP2 ubiquitin ligase 1</Synonym>
+              <Synonym lang="en">RBCK2</Synonym>
+              <Synonym lang="en">RNF54</Synonym>
+              <Synonym lang="en">UBCE7IP3</Synonym>
+              <Synonym lang="en">XAP4</Synonym>
+              <Synonym lang="en">ZRANB4</Synonym>
+              <Synonym lang="en">heme-oxidized IRP2 ubiquitin ligase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000125826</Reference>
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+                <Reference>15864</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>26008899[PMID]</SourceOfValidation>
+          <Gene id="23269">
+            <Name lang="en">ring finger protein 31</Name>
+            <Symbol>RNF31</Symbol>
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+              <Synonym lang="en">FLJ10111</Synonym>
+              <Synonym lang="en">FLJ23501</Synonym>
+              <Synonym lang="en">HOIL-1-interacting protein</Synonym>
+              <Synonym lang="en">HOIP</Synonym>
+              <Synonym lang="en">Paul</Synonym>
+              <Synonym lang="en">ZIBRA</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>16031</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96EP0</Reference>
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+      <OrphaCode>329</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=329</ExpertLink>
+      <Name lang="en">Congenital factor XI deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18312365[PMID]_22159456[PMID]</SourceOfValidation>
+          <Gene id="16009">
+            <Name lang="en">coagulation factor XI</Name>
+            <Symbol>F11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FXI</Synonym>
+              <Synonym lang="en">plasma thromboplastin antecedent</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58744">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088926</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>F11</Reference>
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+                <Reference>3529</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2360</Reference>
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+                <Source>OMIM</Source>
+                <Reference>264900</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P03951</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P03951</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="4510">
+      <OrphaCode>1243</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1243</ExpertLink>
+      <Name lang="en">Best vitelliform macular dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301346[PMID]_16754206[PMID]</SourceOfValidation>
+          <Gene id="15368">
+            <Name lang="en">bestrophin 1</Name>
+            <Symbol>BEST1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BEST</Synonym>
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">Best disease</Synonym>
+              <Synonym lang="en">RP50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167995</Reference>
+              </ExternalReference>
+              <ExternalReference id="36509">
+                <Source>Genatlas</Source>
+                <Reference>BEST1</Reference>
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+              <ExternalReference id="26183">
+                <Source>HGNC</Source>
+                <Reference>12703</Reference>
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+              <ExternalReference id="26182">
+                <Source>OMIM</Source>
+                <Reference>607854</Reference>
+              </ExternalReference>
+              <ExternalReference id="82787">
+                <Source>Reactome</Source>
+                <Reference>O76090</Reference>
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+              <ExternalReference id="33925">
+                <Source>SwissProt</Source>
+                <Reference>O76090</Reference>
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+            <LocusList count="1">
+              <Locus id="25627">
+                <GeneLocus>11q12.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="21843">
+      <OrphaCode>325524</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=325524</ExpertLink>
+      <Name lang="en">Classic congenital lipoid adrenal hyperplasia due to STAR deficency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20444910[PMID]</SourceOfValidation>
+          <Gene id="15562">
+            <Name lang="en">steroidogenic acute regulatory protein</Name>
+            <Symbol>STAR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">STARD1</Synonym>
+              <Synonym lang="en">StAR</Synonym>
+              <Synonym lang="en">StAR related lipid transfer (START) domain containing 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="32533">
+                <Source>SwissProt</Source>
+                <Reference>P49675</Reference>
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+              <ExternalReference id="59637">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147465</Reference>
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+              <ExternalReference id="36376">
+                <Source>Genatlas</Source>
+                <Reference>STAR</Reference>
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+              <ExternalReference id="27124">
+                <Source>HGNC</Source>
+                <Reference>11359</Reference>
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+              <ExternalReference id="27123">
+                <Source>OMIM</Source>
+                <Reference>600617</Reference>
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+              <ExternalReference id="59638">
+                <Source>Reactome</Source>
+                <Reference>P49675</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21841">
+      <OrphaCode>325448</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=325448</ExpertLink>
+      <Name lang="en">Leydig cell hypoplasia due to LHB deficiency</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="16353">
+            <Name lang="en">luteinizing hormone subunit beta</Name>
+            <Symbol>LHB</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CGB4</Synonym>
+              <Synonym lang="en">LSH-B</Synonym>
+              <Synonym lang="en">hLHB</Synonym>
+              <Synonym lang="en">interstitial cell stimulating hormone, beta chain</Synonym>
+              <Synonym lang="en">luteinizing hormone beta subunit</Synonym>
+              <Synonym lang="en">lutropin, beta chain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57655">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104826</Reference>
+              </ExternalReference>
+              <ExternalReference id="30913">
+                <Source>Genatlas</Source>
+                <Reference>LHB</Reference>
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+              <ExternalReference id="30911">
+                <Source>HGNC</Source>
+                <Reference>6584</Reference>
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+              <ExternalReference id="30910">
+                <Source>OMIM</Source>
+                <Reference>152780</Reference>
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+              <ExternalReference id="57656">
+                <Source>Reactome</Source>
+                <Reference>P01229</Reference>
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+              <ExternalReference id="33418">
+                <Source>SwissProt</Source>
+                <Reference>P01229</Reference>
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+                <GeneLocus>19q13.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21844">
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+      <Name lang="en">Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">steroidogenic acute regulatory protein</Name>
+            <Symbol>STAR</Symbol>
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+              <Synonym lang="en">StAR</Synonym>
+              <Synonym lang="en">StAR related lipid transfer (START) domain containing 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="32533">
+                <Source>SwissProt</Source>
+                <Reference>P49675</Reference>
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+              <ExternalReference id="59637">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147465</Reference>
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+                <Reference>STAR</Reference>
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+                <Reference>11359</Reference>
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+              <ExternalReference id="27123">
+                <Source>OMIM</Source>
+                <Reference>600617</Reference>
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+              <ExternalReference id="59638">
+                <Source>Reactome</Source>
+                <Reference>P49675</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Proteasome-associated autoinflammatory syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">proteasome 20S subunit beta 8</Name>
+            <Symbol>PSMB8</Symbol>
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+              <Synonym lang="en">D6S216E</Synonym>
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+              <Synonym lang="en">RING10</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>9545</Reference>
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+                <Reference>2408</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">ABetaA21G amyloidosis</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">amyloid beta precursor protein</Name>
+            <Symbol>APP</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000142192</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">ABeta amyloidosis, Italian type</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">SRD5A3-CDG</Name>
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+            <Name lang="en">steroid 5 alpha-reductase 3</Name>
+            <Symbol>SRD5A3</Symbol>
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+      <Name lang="en">ABeta amyloidosis, Arctic type</Name>
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+                <Reference>ENSG00000142192</Reference>
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+                <Reference>620</Reference>
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+                <Reference>104760</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21799">
+      <OrphaCode>324708</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324708</ExpertLink>
+      <Name lang="en">ABeta amyloidosis, Iowa type</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12557012[PMID]</SourceOfValidation>
+          <Gene id="15941">
+            <Name lang="en">amyloid beta precursor protein</Name>
+            <Symbol>APP</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">alpha-sAPP</Synonym>
+              <Synonym lang="en">peptidase nexin-II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57407">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142192</Reference>
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+              <ExternalReference id="28905">
+                <Source>Genatlas</Source>
+                <Reference>APP</Reference>
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+              <ExternalReference id="28907">
+                <Source>HGNC</Source>
+                <Reference>620</Reference>
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+              <ExternalReference id="28906">
+                <Source>OMIM</Source>
+                <Reference>104760</Reference>
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+              <ExternalReference id="57408">
+                <Source>Reactome</Source>
+                <Reference>P05067</Reference>
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+              <ExternalReference id="32952">
+                <Source>SwissProt</Source>
+                <Reference>P05067</Reference>
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+            <LocusList count="1">
+              <Locus id="21729">
+                <GeneLocus>21q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21798">
+      <OrphaCode>324703</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324703</ExpertLink>
+      <Name lang="en">ABetaL34V amyloidosis</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16178030[PMID]</SourceOfValidation>
+          <Gene id="15941">
+            <Name lang="en">amyloid beta precursor protein</Name>
+            <Symbol>APP</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">alpha-sAPP</Synonym>
+              <Synonym lang="en">peptidase nexin-II</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57407">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142192</Reference>
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+              <ExternalReference id="28905">
+                <Source>Genatlas</Source>
+                <Reference>APP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>620</Reference>
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+              <ExternalReference id="28906">
+                <Source>OMIM</Source>
+                <Reference>104760</Reference>
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+              <ExternalReference id="57408">
+                <Source>Reactome</Source>
+                <Reference>P05067</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P05067</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21793">
+      <OrphaCode>324611</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324611</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21623771[PMID]</SourceOfValidation>
+          <Gene id="16306">
+            <Name lang="en">kinesin family member 5A</Name>
+            <Symbol>KIF5A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">D12S1889</Synonym>
+              <Synonym lang="en">MY050</Synonym>
+              <Synonym lang="en">NKHC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q12840</Reference>
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+              <ExternalReference id="33371">
+                <Source>SwissProt</Source>
+                <Reference>Q12840</Reference>
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+              <ExternalReference id="59995">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155980</Reference>
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+              <ExternalReference id="30693">
+                <Source>Genatlas</Source>
+                <Reference>KIF5A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6323</Reference>
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+      <Name lang="en">Classic multiminicore myopathy</Name>
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+            <Name lang="en">selenoprotein N</Name>
+            <Symbol>SELENON</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162430</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SEPN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15999</Reference>
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+              <ExternalReference id="25710">
+                <Source>OMIM</Source>
+                <Reference>606210</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZV5</Reference>
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+          <SourceOfValidation>24105469[PMID]</SourceOfValidation>
+          <Gene id="15672">
+            <Name lang="en">titin</Name>
+            <Symbol>TTN</Symbol>
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+              <Synonym lang="en">FLJ32040</Synonym>
+              <Synonym lang="en">LGMD2J</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57481">
+                <Source>Reactome</Source>
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+                <Reference>Q8WZ42</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22784669[PMID]</SourceOfValidation>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092054</Reference>
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+      <Name lang="en">Familial dyskinesia and facial myokymia</Name>
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+            <Name lang="en">adenylate cyclase 5</Name>
+            <Symbol>ADCY5</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173175</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">X-linked cleft palate and ankyloglossia</Name>
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+            <Symbol>MPZ</Symbol>
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+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
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+                <Reference>ENSG00000158887</Reference>
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+                <Reference>7225</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21786">
+      <OrphaCode>324569</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324569</ExpertLink>
+      <Name lang="en">Pontocerebellar hypoplasia type 8</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23023333[PMID]</SourceOfValidation>
+          <Gene id="21886">
+            <Name lang="en">charged multivesicular body protein 1A</Name>
+            <Symbol>CHMP1A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHMP1</Synonym>
+              <Synonym lang="en">KIAA0047</Synonym>
+              <Synonym lang="en">Vps46A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131165</Reference>
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+              <ExternalReference id="77510">
+                <Source>Genatlas</Source>
+                <Reference>CHMP1A</Reference>
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+              <ExternalReference id="77508">
+                <Source>HGNC</Source>
+                <Reference>8740</Reference>
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+              <ExternalReference id="77509">
+                <Source>OMIM</Source>
+                <Reference>164010</Reference>
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+              <ExternalReference id="77511">
+                <Source>SwissProt</Source>
+                <Reference>Q9HD42</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HD42</Reference>
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+      <Name lang="en">Hyperinsulinism due to HNF1A deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22802087[PMID]_25733449[PMID]</SourceOfValidation>
+          <Gene id="17227">
+            <Name lang="en">HNF1 homeobox A</Name>
+            <Symbol>HNF1A</Symbol>
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+              <Synonym lang="en">HNF1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11621</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P20823</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P20823</Reference>
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+              <ExternalReference id="58795">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135100</Reference>
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+      <Name lang="en">Hypopigmentation-punctate palmoplantar keratoderma syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24075184[PMID]</SourceOfValidation>
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+            <Name lang="en">ectonucleotide pyrophosphatase/phosphodiesterase 1</Name>
+            <Symbol>ENPP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PC-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197594</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ENPP1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P22413</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22413</Reference>
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+      <Name lang="en">Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">phospholipase C gamma 2</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197943</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 11</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155906</Reference>
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+      <Name lang="en">Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation</Name>
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+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
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+                <Reference>ENSG00000209082</Reference>
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+      <Name lang="en">Autosomal recessive axonal neuropathy with neuromyotonia</Name>
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+      <Name lang="en">ALG13-CDG</Name>
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+            <Name lang="en">chloride intracellular channel 2</Name>
+            <Symbol>CLIC2</Symbol>
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+                <Reference>ENSG00000155962</Reference>
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+                <Reference>2063</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15247</Reference>
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+      <Name lang="en">Sinoatrial node dysfunction and deafness</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21131953[PMID]</SourceOfValidation>
+          <Gene id="21881">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 D</Name>
+            <Symbol>CACNA1D</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CACH3</Synonym>
+              <Synonym lang="en">CACN4</Synonym>
+              <Synonym lang="en">Cav1.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83686">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157388</Reference>
+              </ExternalReference>
+              <ExternalReference id="77471">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1D</Reference>
+              </ExternalReference>
+              <ExternalReference id="77469">
+                <Source>HGNC</Source>
+                <Reference>1391</Reference>
+              </ExternalReference>
+              <ExternalReference id="83687">
+                <Source>IUPHAR</Source>
+                <Reference>530</Reference>
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+              <ExternalReference id="77470">
+                <Source>OMIM</Source>
+                <Reference>114206</Reference>
+              </ExternalReference>
+              <ExternalReference id="83685">
+                <Source>Reactome</Source>
+                <Reference>Q01668</Reference>
+              </ExternalReference>
+              <ExternalReference id="77472">
+                <Source>SwissProt</Source>
+                <Reference>Q01668</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20729">
+                <GeneLocus>3p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="21762">
+      <OrphaCode>324299</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324299</ExpertLink>
+      <Name lang="en">Multiple paragangliomas associated with polycythemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22931260[PMID]</SourceOfValidation>
+          <Gene id="18353">
+            <Name lang="en">endothelial PAS domain protein 1</Name>
+            <Symbol>EPAS1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HIF-1 alpha-like factor</Synonym>
+              <Synonym lang="en">HIF2A</Synonym>
+              <Synonym lang="en">HLF</Synonym>
+              <Synonym lang="en">MOP2</Synonym>
+              <Synonym lang="en">PASD2</Synonym>
+              <Synonym lang="en">bHLHe73</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190371">
+                <Source>IUPHAR</Source>
+                <Reference>3148</Reference>
+              </ExternalReference>
+              <ExternalReference id="41694">
+                <Source>OMIM</Source>
+                <Reference>603349</Reference>
+              </ExternalReference>
+              <ExternalReference id="83132">
+                <Source>Reactome</Source>
+                <Reference>Q99814</Reference>
+              </ExternalReference>
+              <ExternalReference id="41695">
+                <Source>SwissProt</Source>
+                <Reference>Q99814</Reference>
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+              <ExternalReference id="60457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116016</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EPAS1</Reference>
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+              <ExternalReference id="41693">
+                <Source>HGNC</Source>
+                <Reference>3374</Reference>
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+            <LocusList count="1">
+              <Locus id="60151">
+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <OrphaCode>324294</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324294</ExpertLink>
+      <Name lang="en">T-cell immunodeficiency with epidermodysplasia verruciformis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22850876[PMID]</SourceOfValidation>
+          <Gene id="21880">
+            <Name lang="en">ras homolog family member H</Name>
+            <Symbol>RHOH</Symbol>
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+              <Synonym lang="en">RhoH</Synonym>
+              <Synonym lang="en">TTF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83684">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168421</Reference>
+              </ExternalReference>
+              <ExternalReference id="77464">
+                <Source>Genatlas</Source>
+                <Reference>RHOH</Reference>
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+              <ExternalReference id="77462">
+                <Source>HGNC</Source>
+                <Reference>686</Reference>
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+              <ExternalReference id="77463">
+                <Source>OMIM</Source>
+                <Reference>602037</Reference>
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+              <ExternalReference id="83683">
+                <Source>Reactome</Source>
+                <Reference>Q15669</Reference>
+              </ExternalReference>
+              <ExternalReference id="77465">
+                <Source>SwissProt</Source>
+                <Reference>Q15669</Reference>
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+            <LocusList count="1">
+              <Locus id="22727">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="21760">
+      <OrphaCode>324290</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324290</ExpertLink>
+      <Name lang="en">Early-onset Lafora body disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22961547[PMID]</SourceOfValidation>
+          <Gene id="21879">
+            <Name lang="en">PR/SET domain 8</Name>
+            <Symbol>PRDM8</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KMT8D</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83682">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152784</Reference>
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+              <ExternalReference id="77459">
+                <Source>Genatlas</Source>
+                <Reference>PRDM8</Reference>
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+              <ExternalReference id="77458">
+                <Source>HGNC</Source>
+                <Reference>13993</Reference>
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+              <ExternalReference id="96974">
+                <Source>OMIM</Source>
+                <Reference>616639</Reference>
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+              <ExternalReference id="77460">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQV8</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21758">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=324262</ExpertLink>
+      <Name lang="en">Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="21875">
+            <Name lang="en">glutamate metabotropic receptor 1</Name>
+            <Symbol>GRM1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">MGLUR1</Synonym>
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+              <Synonym lang="en">mGlu1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152822</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GRM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4593</Reference>
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+                <Reference>289</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13255</Reference>
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+                <Reference>Q13255</Reference>
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+      <Name lang="en">NON RARE IN EUROPE: Partial color blindness, protan type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102076</Reference>
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+                <Reference>9936</Reference>
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+                <Reference>300822</Reference>
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+      <Name lang="en">NON RARE IN EUROPE: Partial color blindness, deutan type</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000268221</Reference>
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+                <Reference>4206</Reference>
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+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319705</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Parkinson disease</Name>
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+        <Name lang="en">Disease</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177628</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GBA</Reference>
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+                <Reference>4177</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P04062</Reference>
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+                <Reference>P04062</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320360</ExpertLink>
+      <Name lang="en">MT-ATP6-related mitochondrial spastic paraplegia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>MT-ATP6</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
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+            <GeneType id="25993">
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+              <ExternalReference id="56908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198899</Reference>
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+              <ExternalReference id="37241">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="31454">
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+                <Reference>7414</Reference>
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+              <ExternalReference id="31453">
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+                <Reference>516060</Reference>
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+              <ExternalReference id="56909">
+                <Source>Reactome</Source>
+                <Reference>P00846</Reference>
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+              <ExternalReference id="33535">
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+                <Reference>P00846</Reference>
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+              <ExternalReference id="190403">
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+                <Reference>801</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+      <OrphaCode>320355</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320355</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 41</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18364116[PMID]</SourceOfValidation>
+          <Gene id="21852">
+            <Name lang="en">spastic paraplegia 41 (autosomal dominant)</Name>
+            <Symbol>SPG41</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="77028">
+                <Source>HGNC</Source>
+                <Reference>34382</Reference>
+              </ExternalReference>
+              <ExternalReference id="142857">
+                <Source>OMIM</Source>
+                <Reference>613364</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37431">
+                <GeneLocus>11p14.1-p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21715">
+      <OrphaCode>320370</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320370</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 43</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23857908[PMID]</SourceOfValidation>
+          <Gene id="20742">
+            <Name lang="en">chromosome 19 open reading frame 12</Name>
+            <Symbol>C19ORF12</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DKFZP762D096</Synonym>
+              <Synonym lang="en">MGC10922</Synonym>
+              <Synonym lang="en">MPAN</Synonym>
+              <Synonym lang="en">NBIA4</Synonym>
+              <Synonym lang="en">membrane protein-associated neurodegeneration</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60621">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131943</Reference>
+              </ExternalReference>
+              <ExternalReference id="55828">
+                <Source>Genatlas</Source>
+                <Reference>C19orf12</Reference>
+              </ExternalReference>
+              <ExternalReference id="55826">
+                <Source>HGNC</Source>
+                <Reference>25443</Reference>
+              </ExternalReference>
+              <ExternalReference id="55827">
+                <Source>OMIM</Source>
+                <Reference>614297</Reference>
+              </ExternalReference>
+              <ExternalReference id="55829">
+                <Source>SwissProt</Source>
+                <Reference>Q9NSK7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23577">
+                <GeneLocus>19q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21714">
+      <OrphaCode>320365</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320365</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 36</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357379[PMID]</SourceOfValidation>
+          <Gene id="21853">
+            <Name lang="en">spastic paraplegia 36 (autosomal dominant)</Name>
+            <Symbol>SPG36</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="77030">
+                <Source>HGNC</Source>
+                <Reference>33240</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12361">
+                <GeneLocus>12q23-q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21717">
+      <OrphaCode>320380</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320380</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 54</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23176823[PMID]</SourceOfValidation>
+          <Gene id="21738">
+            <Name lang="en">DDHD domain containing 2</Name>
+            <Symbol>DDHD2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0725</Synonym>
+              <Synonym lang="en">SPG54</Synonym>
+              <Synonym lang="en">iPLA1?</Synonym>
+              <Synonym lang="en">intracellular phospholipase A1 gamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98102">
+                <Source>Reactome</Source>
+                <Reference>O94830</Reference>
+              </ExternalReference>
+              <ExternalReference id="76174">
+                <Source>SwissProt</Source>
+                <Reference>O94830</Reference>
+              </ExternalReference>
+              <ExternalReference id="83621">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085788</Reference>
+              </ExternalReference>
+              <ExternalReference id="76173">
+                <Source>Genatlas</Source>
+                <Reference>DDHD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="76171">
+                <Source>HGNC</Source>
+                <Reference>29106</Reference>
+              </ExternalReference>
+              <ExternalReference id="76172">
+                <Source>OMIM</Source>
+                <Reference>615003</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17815">
+                <GeneLocus>8p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21716">
+      <OrphaCode>320375</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320375</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 55</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23188110[PMID]</SourceOfValidation>
+          <Gene id="19467">
+            <Name lang="en">mitochondrial translation release factor in rescue</Name>
+            <Symbol>MTRFR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">COXPD7</Synonym>
+              <Synonym lang="en">FLJ38663</Synonym>
+              <Synonym lang="en">SPG55</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59219">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130921</Reference>
+              </ExternalReference>
+              <ExternalReference id="48389">
+                <Source>Genatlas</Source>
+                <Reference>C12orf65</Reference>
+              </ExternalReference>
+              <ExternalReference id="48390">
+                <Source>HGNC</Source>
+                <Reference>26784</Reference>
+              </ExternalReference>
+              <ExternalReference id="48392">
+                <Source>OMIM</Source>
+                <Reference>613541</Reference>
+              </ExternalReference>
+              <ExternalReference id="48391">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3J6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14077">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21719">
+      <OrphaCode>320391</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320391</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 46</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23332916[PMID]</SourceOfValidation>
+          <Gene id="21890">
+            <Name lang="en">glucosylceramidase beta 2</Name>
+            <Symbol>GBA2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">AD035</Synonym>
+              <Synonym lang="en">Bile acid beta-glucosidase</Synonym>
+              <Synonym lang="en">DKFZp762K054</Synonym>
+              <Synonym lang="en">KIAA1605</Synonym>
+              <Synonym lang="en">Non-lysosomal glucosylceramidase</Synonym>
+              <Synonym lang="en">bile acid beta-glucosidase</Synonym>
+              <Synonym lang="en">glucocerebrosidase 2</Synonym>
+              <Synonym lang="en">non-lysosomal glucosylceramidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="77771">
+                <Source>HGNC</Source>
+                <Reference>18986</Reference>
+              </ExternalReference>
+              <ExternalReference id="77772">
+                <Source>OMIM</Source>
+                <Reference>609471</Reference>
+              </ExternalReference>
+              <ExternalReference id="83697">
+                <Source>Reactome</Source>
+                <Reference>Q9HCG7</Reference>
+              </ExternalReference>
+              <ExternalReference id="77774">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCG7</Reference>
+              </ExternalReference>
+              <ExternalReference id="83698">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070610</Reference>
+              </ExternalReference>
+              <ExternalReference id="77773">
+                <Source>Genatlas</Source>
+                <Reference>GBA2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="25073">
+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="21718">
+      <OrphaCode>320385</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320385</ExpertLink>
+      <Name lang="en">Hereditary sensory and autonomic neuropathy due to TECPR2 mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23176824[PMID]</SourceOfValidation>
+          <Gene id="21740">
+            <Name lang="en">tectonin beta-propeller repeat containing 2</Name>
+            <Symbol>TECPR2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83622">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196663</Reference>
+              </ExternalReference>
+              <ExternalReference id="76184">
+                <Source>Genatlas</Source>
+                <Reference>TECPR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="76182">
+                <Source>HGNC</Source>
+                <Reference>19957</Reference>
+              </ExternalReference>
+              <ExternalReference id="76183">
+                <Source>OMIM</Source>
+                <Reference>615000</Reference>
+              </ExternalReference>
+              <ExternalReference id="76185">
+                <Source>SwissProt</Source>
+                <Reference>O15040</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="12307">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="21721">
+      <OrphaCode>320401</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320401</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 44</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19056803[PMID]</SourceOfValidation>
+          <Gene id="16126">
+            <Name lang="en">gap junction protein gamma 2</Name>
+            <Symbol>GJC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CX46.6</Synonym>
+              <Synonym lang="en">CX47</Synonym>
+              <Synonym lang="en">SPG44</Synonym>
+              <Synonym lang="en">connexin 47</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59413">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198835</Reference>
+              </ExternalReference>
+              <ExternalReference id="38646">
+                <Source>Genatlas</Source>
+                <Reference>GJC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29833">
+                <Source>HGNC</Source>
+                <Reference>17494</Reference>
+              </ExternalReference>
+              <ExternalReference id="29832">
+                <Source>OMIM</Source>
+                <Reference>608803</Reference>
+              </ExternalReference>
+              <ExternalReference id="59414">
+                <Source>Reactome</Source>
+                <Reference>Q5T442</Reference>
+              </ExternalReference>
+              <ExternalReference id="33141">
+                <Source>SwissProt</Source>
+                <Reference>Q5T442</Reference>
+              </ExternalReference>
+              <ExternalReference id="193605">
+                <Source>IUPHAR</Source>
+                <Reference>731</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66619">
+                <GeneLocus>1q42.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="21720">
+      <OrphaCode>320396</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320396</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 45</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22735">
+            <Name lang="en">5'-nucleotidase, cytosolic II</Name>
+            <Symbol>NT5C2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GMP</Synonym>
+              <Synonym lang="en">PNT5</Synonym>
+              <Synonym lang="en">SPG65</Synonym>
+              <Synonym lang="en">cN-II</Synonym>
+              <Synonym lang="en">purine 5' nucleotidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="89576">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076685</Reference>
+              </ExternalReference>
+              <ExternalReference id="88050">
+                <Source>Genatlas</Source>
+                <Reference>NT5C2</Reference>
+              </ExternalReference>
+              <ExternalReference id="88048">
+                <Source>HGNC</Source>
+                <Reference>8022</Reference>
+              </ExternalReference>
+              <ExternalReference id="88049">
+                <Source>OMIM</Source>
+                <Reference>600417</Reference>
+              </ExternalReference>
+              <ExternalReference id="89575">
+                <Source>Reactome</Source>
+                <Reference>P49902</Reference>
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+              <ExternalReference id="88051">
+                <Source>SwissProt</Source>
+                <Reference>P49902</Reference>
+              </ExternalReference>
+              <ExternalReference id="190613">
+                <Source>IUPHAR</Source>
+                <Reference>1236</Reference>
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+            <LocusList count="1">
+              <Locus id="60635">
+                <GeneLocus>10q24.32-q24.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="21723">
+      <OrphaCode>320411</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320411</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 56</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23176821[PMID]</SourceOfValidation>
+          <Gene id="21737">
+            <Name lang="en">cytochrome P450 family 2 subfamily U member 1</Name>
+            <Symbol>CYP2U1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SPG49</Synonym>
+              <Synonym lang="en">spastic paraplegia 49</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155016</Reference>
+              </ExternalReference>
+              <ExternalReference id="76166">
+                <Source>Genatlas</Source>
+                <Reference>CYP2U1</Reference>
+              </ExternalReference>
+              <ExternalReference id="76164">
+                <Source>HGNC</Source>
+                <Reference>20582</Reference>
+              </ExternalReference>
+              <ExternalReference id="76165">
+                <Source>OMIM</Source>
+                <Reference>610670</Reference>
+              </ExternalReference>
+              <ExternalReference id="83619">
+                <Source>Reactome</Source>
+                <Reference>Q7Z449</Reference>
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+              <ExternalReference id="76167">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z449</Reference>
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+              <ExternalReference id="190502">
+                <Source>IUPHAR</Source>
+                <Reference>1335</Reference>
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+            <LocusList count="1">
+              <Locus id="60413">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21722">
+      <OrphaCode>320406</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=320406</ExpertLink>
+      <Name lang="en">Spastic paraplegia-optic atrophy-neuropathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22903">
+            <Name lang="en">fibronectin leucine rich transmembrane protein 1</Name>
+            <Symbol>FLRT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC21624</Synonym>
+              <Synonym lang="en">SPG68</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100355">
+                <Source>Reactome</Source>
+                <Reference>Q9NZU1</Reference>
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+              <ExternalReference id="91623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126500</Reference>
+              </ExternalReference>
+              <ExternalReference id="90411">
+                <Source>Genatlas</Source>
+                <Reference>FLRT1</Reference>
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+              <ExternalReference id="90409">
+                <Source>HGNC</Source>
+                <Reference>3760</Reference>
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+              <ExternalReference id="90410">
+                <Source>OMIM</Source>
+                <Reference>604806</Reference>
+              </ExternalReference>
+              <ExternalReference id="90412">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZU1</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26385635[PMID]</SourceOfValidation>
+          <Gene id="23633">
+            <Name lang="en">kinesin light chain 2</Name>
+            <Symbol>KLC2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ12387</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98754">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174996</Reference>
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+              <ExternalReference id="98751">
+                <Source>Genatlas</Source>
+                <Reference>KLC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="98749">
+                <Source>HGNC</Source>
+                <Reference>20716</Reference>
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+              <ExternalReference id="98750">
+                <Source>OMIM</Source>
+                <Reference>611729</Reference>
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+              <ExternalReference id="98753">
+                <Source>Reactome</Source>
+                <Reference>Q9H0B6</Reference>
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+              <ExternalReference id="98752">
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+                <Reference>Q9H0B6</Reference>
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+            <LocusList count="1">
+              <Locus id="22507">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21671">
+      <OrphaCode>319547</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319547</ExpertLink>
+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16243">
+            <Name lang="en">interferon gamma receptor 2</Name>
+            <Symbol>IFNGR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AF-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="30392">
+                <Source>HGNC</Source>
+                <Reference>5440</Reference>
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+              <ExternalReference id="30391">
+                <Source>OMIM</Source>
+                <Reference>147569</Reference>
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+              <ExternalReference id="58907">
+                <Source>Reactome</Source>
+                <Reference>P38484</Reference>
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+              <ExternalReference id="33307">
+                <Source>SwissProt</Source>
+                <Reference>P38484</Reference>
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+              <ExternalReference id="193599">
+                <Source>IUPHAR</Source>
+                <Reference>1726</Reference>
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+              <ExternalReference id="58906">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159128</Reference>
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+              <ExternalReference id="37489">
+                <Source>Genatlas</Source>
+                <Reference>IFNGR2</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21666">
+      <OrphaCode>319519</OrphaCode>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 14</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22499341[PMID]</SourceOfValidation>
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+            <Name lang="en">phenylalanyl-tRNA synthetase 2, mitochondrial</Name>
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+              <Synonym lang="en">'phenylalanine tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">Phenylalanine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">dJ236A3.1</Synonym>
+              <Synonym lang="en">mtPheRS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145982</Reference>
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+              <ExternalReference id="73766">
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+                <Reference>FARS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21062</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611592</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95363</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95363</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21667">
+      <OrphaCode>319524</OrphaCode>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 15</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrial methionyl-tRNA formyltransferase</Name>
+            <Symbol>MTFMT</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83367">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103707</Reference>
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+              <ExternalReference id="61894">
+                <Source>Genatlas</Source>
+                <Reference>MTFMT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29666</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96DP5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96DP5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 9</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>MRPL3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114686</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P09001</Reference>
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+            <Name lang="en">polyribonucleotide nucleotidyltransferase 1</Name>
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+              <Synonym lang="en">OLD35</Synonym>
+              <Synonym lang="en">PNPase</Synonym>
+              <Synonym lang="en">Polynucleotide phosphorylase</Synonym>
+              <Synonym lang="en">old-35</Synonym>
+              <Synonym lang="en">polynucleotide phosphorylase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>PNPT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23166</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TCS8</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P38484</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P38484</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1726</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159128</Reference>
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+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</Name>
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+              <Synonym lang="en">transcription factor ISGF-3 components p91/p84</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115415</Reference>
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+                <Reference>11362</Reference>
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+                <Reference>600555</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">interferon gamma receptor 2</Name>
+            <Symbol>IFNGR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AF-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Reference>5440</Reference>
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+              <ExternalReference id="30391">
+                <Source>OMIM</Source>
+                <Reference>147569</Reference>
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+              <ExternalReference id="58907">
+                <Source>Reactome</Source>
+                <Reference>P38484</Reference>
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+              <ExternalReference id="33307">
+                <Source>SwissProt</Source>
+                <Reference>P38484</Reference>
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+                <Reference>1726</Reference>
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+              <ExternalReference id="58906">
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+                <Reference>ENSG00000159128</Reference>
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+              <ExternalReference id="37489">
+                <Source>Genatlas</Source>
+                <Reference>IFNGR2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">interferon gamma receptor 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58904">
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+                <Reference>ENSG00000027697</Reference>
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+              <ExternalReference id="30389">
+                <Source>Genatlas</Source>
+                <Reference>IFNGR1</Reference>
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+              <ExternalReference id="30387">
+                <Source>HGNC</Source>
+                <Reference>5439</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107470</Reference>
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+              <ExternalReference id="58905">
+                <Source>Reactome</Source>
+                <Reference>P15260</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P15260</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>ISG15</Symbol>
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+              <Synonym lang="en">IFI15</Synonym>
+              <Synonym lang="en">UCRP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000187608</Reference>
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+              <ExternalReference id="73859">
+                <Source>Genatlas</Source>
+                <Reference>ISG15</Reference>
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+              <ExternalReference id="73857">
+                <Source>HGNC</Source>
+                <Reference>4053</Reference>
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+              <ExternalReference id="73858">
+                <Source>OMIM</Source>
+                <Reference>147571</Reference>
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+              <ExternalReference id="83527">
+                <Source>Reactome</Source>
+                <Reference>P05161</Reference>
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+                <Reference>P05161</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58904">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000027697</Reference>
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+              <ExternalReference id="30389">
+                <Source>Genatlas</Source>
+                <Reference>IFNGR1</Reference>
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+              <ExternalReference id="30387">
+                <Source>HGNC</Source>
+                <Reference>5439</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107470</Reference>
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+              <ExternalReference id="58905">
+                <Source>Reactome</Source>
+                <Reference>P15260</Reference>
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+              <ExternalReference id="33306">
+                <Source>SwissProt</Source>
+                <Reference>P15260</Reference>
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+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096996</Reference>
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+                <Reference>P42701</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency</Name>
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+              <Synonym lang="en">interleukin-12 beta chain</Synonym>
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+                <Reference>9454</Reference>
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+      <Name lang="en">Amyloidosis cutis dyschromia</Name>
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+              <Synonym lang="en">glycoprotein nmb-like protein</Synonym>
+              <Synonym lang="en">glycoprotein nonmetastatic melanoma protein B</Synonym>
+              <Synonym lang="en">hematopoietic growth factor inducible neurokinin-1</Synonym>
+              <Synonym lang="en">osteoactivin</Synonym>
+              <Synonym lang="en">transmembrane glycoprotein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="157943">
+                <Source>HGNC</Source>
+                <Reference>4462</Reference>
+              </ExternalReference>
+              <ExternalReference id="157944">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136235</Reference>
+              </ExternalReference>
+              <ExternalReference id="157945">
+                <Source>SwissProt</Source>
+                <Reference>Q14956</Reference>
+              </ExternalReference>
+              <ExternalReference id="157946">
+                <Source>OMIM</Source>
+                <Reference>604368</Reference>
+              </ExternalReference>
+              <ExternalReference id="157947">
+                <Source>Genatlas</Source>
+                <Reference>GPNMB</Reference>
+              </ExternalReference>
+              <ExternalReference id="157948">
+                <Source>Reactome</Source>
+                <Reference>Q14956</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="48119">
+                <GeneLocus>7p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21683">
+      <OrphaCode>319623</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319623</ExpertLink>
+      <Name lang="en">X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15831">
+            <Name lang="en">cytochrome b-245 beta chain</Name>
+            <Symbol>CYBB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GP91-PHOX</Synonym>
+              <Synonym lang="en">NADPH oxidase 2</Synonym>
+              <Synonym lang="en">NOX2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56933">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165168</Reference>
+              </ExternalReference>
+              <ExternalReference id="193634">
+                <Source>IUPHAR</Source>
+                <Reference>3002</Reference>
+              </ExternalReference>
+              <ExternalReference id="28394">
+                <Source>Genatlas</Source>
+                <Reference>CYBB</Reference>
+              </ExternalReference>
+              <ExternalReference id="28396">
+                <Source>HGNC</Source>
+                <Reference>2578</Reference>
+              </ExternalReference>
+              <ExternalReference id="28395">
+                <Source>OMIM</Source>
+                <Reference>300481</Reference>
+              </ExternalReference>
+              <ExternalReference id="56934">
+                <Source>Reactome</Source>
+                <Reference>P04839</Reference>
+              </ExternalReference>
+              <ExternalReference id="32842">
+                <Source>SwissProt</Source>
+                <Reference>P04839</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp21.1-p11.4</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21682">
+      <OrphaCode>319612</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319612</ExpertLink>
+      <Name lang="en">X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16252">
+            <Name lang="en">inhibitor of nuclear factor kappa B kinase regulatory subunit gamma</Name>
+            <Symbol>IKBKG</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FIP-3</Synonym>
+              <Synonym lang="en">FIP3</Synonym>
+              <Synonym lang="en">Fip3p</Synonym>
+              <Synonym lang="en">IKK-gamma</Synonym>
+              <Synonym lang="en">NEMO</Synonym>
+              <Synonym lang="en">ZC2HC9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269335</Reference>
+              </ExternalReference>
+              <ExternalReference id="30437">
+                <Source>Genatlas</Source>
+                <Reference>IKBKG</Reference>
+              </ExternalReference>
+              <ExternalReference id="30435">
+                <Source>HGNC</Source>
+                <Reference>5961</Reference>
+              </ExternalReference>
+              <ExternalReference id="30434">
+                <Source>OMIM</Source>
+                <Reference>300248</Reference>
+              </ExternalReference>
+              <ExternalReference id="57182">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6K9</Reference>
+              </ExternalReference>
+              <ExternalReference id="33317">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6K9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14447">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="21680">
+      <OrphaCode>319600</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319600</ExpertLink>
+      <Name lang="en">Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21557">
+            <Name lang="en">interferon regulatory factor 8</Name>
+            <Symbol>IRF8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ICSBP</Synonym>
+              <Synonym lang="en">IRF-8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83530">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140968</Reference>
+              </ExternalReference>
+              <ExternalReference id="73864">
+                <Source>Genatlas</Source>
+                <Reference>IRF8</Reference>
+              </ExternalReference>
+              <ExternalReference id="73862">
+                <Source>HGNC</Source>
+                <Reference>5358</Reference>
+              </ExternalReference>
+              <ExternalReference id="73863">
+                <Source>OMIM</Source>
+                <Reference>601565</Reference>
+              </ExternalReference>
+              <ExternalReference id="83529">
+                <Source>Reactome</Source>
+                <Reference>Q02556</Reference>
+              </ExternalReference>
+              <ExternalReference id="73865">
+                <Source>SwissProt</Source>
+                <Reference>Q02556</Reference>
+              </ExternalReference>
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+            </LocusList>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21693">
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+      <Name lang="en">NON RARE IN EUROPE: Lactase non-persistence in adulthood</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
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+            <Name lang="en">lactase</Name>
+            <Symbol>LCT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115850</Reference>
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+              <ExternalReference id="30862">
+                <Source>Genatlas</Source>
+                <Reference>LCT</Reference>
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+              <ExternalReference id="30860">
+                <Source>HGNC</Source>
+                <Reference>6530</Reference>
+              </ExternalReference>
+              <ExternalReference id="30859">
+                <Source>OMIM</Source>
+                <Reference>603202</Reference>
+              </ExternalReference>
+              <ExternalReference id="59134">
+                <Source>Reactome</Source>
+                <Reference>P09848</Reference>
+              </ExternalReference>
+              <ExternalReference id="33407">
+                <Source>SwissProt</Source>
+                <Reference>P09848</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19575818[PMID]</SourceOfValidation>
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+            <Name lang="en">minichromosome maintenance complex component 6</Name>
+            <Symbol>MCM6</Symbol>
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+              <Synonym lang="en">MIS5 homolog (S.pombe)</Synonym>
+              <Synonym lang="en">Mis5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83655">
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+                <Reference>ENSG00000076003</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MCM6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6949</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601806</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q14566</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14566</Reference>
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+                <GeneLocus>2q21.3</GeneLocus>
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+              </Locus>
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+      <Name lang="en">Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19375058[PMID]</SourceOfValidation>
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+            <Name lang="en">coenzyme Q9</Name>
+            <Symbol>COQ9</Symbol>
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+              <Synonym lang="en">DKFZP434K046</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088682</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75208</Reference>
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+      <Name lang="en">Microcephalic primordial dwarfism, Dauber type</Name>
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+            <Name lang="en">ninein</Name>
+            <Symbol>NIN</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100503</Reference>
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+                <Reference>NIN</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>14906</Reference>
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+                <Reference>608684</Reference>
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+                <Reference>Q8N4C6</Reference>
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+            <Name lang="en">La ribonucleoprotein 7, transcriptional regulator</Name>
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+      <Name lang="en">Papillary renal cell carcinoma</Name>
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+              <Synonym lang="en">RCCP2</Synonym>
+              <Synonym lang="en">hepatocyte growth factor receptor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105976</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MET</Reference>
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+                <Reference>7029</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1815</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164860</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08581</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P08581</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9193">
+                <GeneLocus>7q31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22012259[PMID]</SourceOfValidation>
+          <Gene id="16402">
+            <Name lang="en">melanocyte inducing transcription factor</Name>
+            <Symbol>MITF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MI</Synonym>
+              <Synonym lang="en">bHLHe32</Synonym>
+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187098</Reference>
+              </ExternalReference>
+              <ExternalReference id="31143">
+                <Source>Genatlas</Source>
+                <Reference>MITF</Reference>
+              </ExternalReference>
+              <ExternalReference id="31141">
+                <Source>HGNC</Source>
+                <Reference>7105</Reference>
+              </ExternalReference>
+              <ExternalReference id="31140">
+                <Source>OMIM</Source>
+                <Reference>156845</Reference>
+              </ExternalReference>
+              <ExternalReference id="98067">
+                <Source>Reactome</Source>
+                <Reference>O75030</Reference>
+              </ExternalReference>
+              <ExternalReference id="33466">
+                <Source>SwissProt</Source>
+                <Reference>O75030</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18733">
+                <GeneLocus>3p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21642">
+      <OrphaCode>319303</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319303</ExpertLink>
+      <Name lang="en">Chromophobe renal cell carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8620471[PMID]_15649945[PMID]</SourceOfValidation>
+          <Gene id="17227">
+            <Name lang="en">HNF1 homeobox A</Name>
+            <Symbol>HNF1A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HNF1</Synonym>
+              <Synonym lang="en">HNF1a</Synonym>
+              <Synonym lang="en">LFB1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="36397">
+                <Source>Genatlas</Source>
+                <Reference>HNF1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="36399">
+                <Source>HGNC</Source>
+                <Reference>11621</Reference>
+              </ExternalReference>
+              <ExternalReference id="36398">
+                <Source>OMIM</Source>
+                <Reference>142410</Reference>
+              </ExternalReference>
+              <ExternalReference id="58796">
+                <Source>Reactome</Source>
+                <Reference>P20823</Reference>
+              </ExternalReference>
+              <ExternalReference id="36400">
+                <Source>SwissProt</Source>
+                <Reference>P20823</Reference>
+              </ExternalReference>
+              <ExternalReference id="58795">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135100</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9927">
+                <GeneLocus>12q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21643">
+      <OrphaCode>319308</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319308</ExpertLink>
+      <Name lang="en">MiT family translocation renal cell carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8872474[PMID]_22207547[PMID]_20073616[PMID]</SourceOfValidation>
+          <Gene id="15134">
+            <Name lang="en">proline rich mitotic checkpoint control factor</Name>
+            <Symbol>PRCC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RCCP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126313">
+                <Source>Reactome</Source>
+                <Reference>Q92733</Reference>
+              </ExternalReference>
+              <ExternalReference id="33245">
+                <Source>SwissProt</Source>
+                <Reference>Q92733</Reference>
+              </ExternalReference>
+              <ExternalReference id="59081">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143294</Reference>
+              </ExternalReference>
+              <ExternalReference id="37320">
+                <Source>Genatlas</Source>
+                <Reference>PRCC</Reference>
+              </ExternalReference>
+              <ExternalReference id="25073">
+                <Source>HGNC</Source>
+                <Reference>9343</Reference>
+              </ExternalReference>
+              <ExternalReference id="25072">
+                <Source>OMIM</Source>
+                <Reference>179755</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26611">
+                <GeneLocus>1q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23426439[PMID]_22207547[PMID]</SourceOfValidation>
+          <Gene id="15603">
+            <Name lang="en">transcription factor binding to IGHM enhancer 3</Name>
+            <Symbol>TFE3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TFEA</Synonym>
+              <Synonym lang="en">bHLHe33</Synonym>
+              <Synonym lang="en">transcription factor E family, member A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143980">
+                <Source>Reactome</Source>
+                <Reference>P19532</Reference>
+              </ExternalReference>
+              <ExternalReference id="59082">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068323</Reference>
+              </ExternalReference>
+              <ExternalReference id="37375">
+                <Source>Genatlas</Source>
+                <Reference>TFE3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27321">
+                <Source>HGNC</Source>
+                <Reference>11752</Reference>
+              </ExternalReference>
+              <ExternalReference id="27320">
+                <Source>OMIM</Source>
+                <Reference>314310</Reference>
+              </ExternalReference>
+              <ExternalReference id="32574">
+                <Source>SwissProt</Source>
+                <Reference>P19532</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39429">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15992428[PMID]_22207547[PMID]_20073616[PMID]</SourceOfValidation>
+          <Gene id="17758">
+            <Name lang="en">ASPSCR1 tether for SLC2A4, UBX domain containing</Name>
+            <Symbol>ASPSCR1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ASPL</Synonym>
+              <Synonym lang="en">ASPS</Synonym>
+              <Synonym lang="en">TUG</Synonym>
+              <Synonym lang="en">Tether containing UBX domain for GLUT4</Synonym>
+              <Synonym lang="en">UBX domain protein 9</Synonym>
+              <Synonym lang="en">UBXD9</Synonym>
+              <Synonym lang="en">UBXN9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="39589">
+                <Source>OMIM</Source>
+                <Reference>606236</Reference>
+              </ExternalReference>
+              <ExternalReference id="83119">
+                <Source>Reactome</Source>
+                <Reference>Q9BZE9</Reference>
+              </ExternalReference>
+              <ExternalReference id="39590">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZE9</Reference>
+              </ExternalReference>
+              <ExternalReference id="60114">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169696</Reference>
+              </ExternalReference>
+              <ExternalReference id="39587">
+                <Source>Genatlas</Source>
+                <Reference>ASPSCR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39588">
+                <Source>HGNC</Source>
+                <Reference>13825</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24343">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12837690[PMID]_23426439[PMID]</SourceOfValidation>
+          <Gene id="21869">
+            <Name lang="en">transcription factor EB</Name>
+            <Symbol>TFEB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TCFEB</Synonym>
+              <Synonym lang="en">bHLHe35</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112561</Reference>
+              </ExternalReference>
+              <ExternalReference id="77106">
+                <Source>Genatlas</Source>
+                <Reference>TFEB</Reference>
+              </ExternalReference>
+              <ExternalReference id="77104">
+                <Source>HGNC</Source>
+                <Reference>11753</Reference>
+              </ExternalReference>
+              <ExternalReference id="77105">
+                <Source>OMIM</Source>
+                <Reference>600744</Reference>
+              </ExternalReference>
+              <ExternalReference id="77107">
+                <Source>SwissProt</Source>
+                <Reference>P19484</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21307">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12917640[PMID]_20073616[PMID]</SourceOfValidation>
+          <Gene id="21870">
+            <Name lang="en">clathrin heavy chain</Name>
+            <Symbol>CLTC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hc</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83669">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141367</Reference>
+              </ExternalReference>
+              <ExternalReference id="77115">
+                <Source>Genatlas</Source>
+                <Reference>CLTC</Reference>
+              </ExternalReference>
+              <ExternalReference id="77113">
+                <Source>HGNC</Source>
+                <Reference>2092</Reference>
+              </ExternalReference>
+              <ExternalReference id="77114">
+                <Source>OMIM</Source>
+                <Reference>118955</Reference>
+              </ExternalReference>
+              <ExternalReference id="83668">
+                <Source>Reactome</Source>
+                <Reference>Q00610</Reference>
+              </ExternalReference>
+              <ExternalReference id="77116">
+                <Source>SwissProt</Source>
+                <Reference>Q00610</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12381">
+                <GeneLocus>17q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9393982[PMID]_20073616[PMID]</SourceOfValidation>
+          <Gene id="21871">
+            <Name lang="en">splicing factor proline and glutamine rich</Name>
+            <Symbol>SFPQ</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">PPP1R140</Synonym>
+              <Synonym lang="en">PSF</Synonym>
+              <Synonym lang="en">Polypyrimidine tract binding protein associated</Synonym>
+              <Synonym lang="en">polypyrimidine tract binding protein associated</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 140</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100340">
+                <Source>Reactome</Source>
+                <Reference>P23246</Reference>
+              </ExternalReference>
+              <ExternalReference id="83670">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116560</Reference>
+              </ExternalReference>
+              <ExternalReference id="77120">
+                <Source>Genatlas</Source>
+                <Reference>SFPQ</Reference>
+              </ExternalReference>
+              <ExternalReference id="77118">
+                <Source>HGNC</Source>
+                <Reference>10774</Reference>
+              </ExternalReference>
+              <ExternalReference id="77119">
+                <Source>OMIM</Source>
+                <Reference>605199</Reference>
+              </ExternalReference>
+              <ExternalReference id="77121">
+                <Source>SwissProt</Source>
+                <Reference>P23246</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="19255">
+                <GeneLocus>1p34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9393982[PMID]_20073616[PMID]</SourceOfValidation>
+          <Gene id="21872">
+            <Name lang="en">non-POU domain containing octamer binding</Name>
+            <Symbol>NONO</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">NMT55</Synonym>
+              <Synonym lang="en">NRB54</Synonym>
+              <Synonym lang="en">Nuclear RNA-binding protein, 54-kD</Synonym>
+              <Synonym lang="en">P54</Synonym>
+              <Synonym lang="en">P54NRB</Synonym>
+              <Synonym lang="en">PPP1R114</Synonym>
+              <Synonym lang="en">non-Pou domain-containing octamer (ATGCAAAT) binding protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 114</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143884">
+                <Source>Reactome</Source>
+                <Reference>Q15233</Reference>
+              </ExternalReference>
+              <ExternalReference id="83671">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147140</Reference>
+              </ExternalReference>
+              <ExternalReference id="77125">
+                <Source>Genatlas</Source>
+                <Reference>NONO</Reference>
+              </ExternalReference>
+              <ExternalReference id="77123">
+                <Source>HGNC</Source>
+                <Reference>7871</Reference>
+              </ExternalReference>
+              <ExternalReference id="77124">
+                <Source>OMIM</Source>
+                <Reference>300084</Reference>
+              </ExternalReference>
+              <ExternalReference id="77126">
+                <Source>SwissProt</Source>
+                <Reference>Q15233</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39233">
+                <GeneLocus>Xq13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21649">
+      <OrphaCode>319332</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319332</ExpertLink>
+      <Name lang="en">Autosomal recessive myogenic arthrogryposis multiplex congenita</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19542096[PMID]</SourceOfValidation>
+          <Gene id="17290">
+            <Name lang="en">spectrin repeat containing nuclear envelope protein 1</Name>
+            <Symbol>SYNE1</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">8B</Synonym>
+              <Synonym lang="en">ARCA1</Synonym>
+              <Synonym lang="en">CPG2</Synonym>
+              <Synonym lang="en">Enaptin</Synonym>
+              <Synonym lang="en">KIAA0796</Synonym>
+              <Synonym lang="en">MYNE1</Synonym>
+              <Synonym lang="en">Nesp1</Synonym>
+              <Synonym lang="en">Nesprin-1</Synonym>
+              <Synonym lang="en">SCAR8</Synonym>
+              <Synonym lang="en">SYNE-1B</Synonym>
+              <Synonym lang="en">dJ45H2.2</Synonym>
+              <Synonym lang="en">enaptin</Synonym>
+              <Synonym lang="en">myocyte nuclear envelope protein 1</Synonym>
+              <Synonym lang="en">nuclear envelope spectrin repeat-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58016">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131018</Reference>
+              </ExternalReference>
+              <ExternalReference id="36660">
+                <Source>Genatlas</Source>
+                <Reference>SYNE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36661">
+                <Source>HGNC</Source>
+                <Reference>17089</Reference>
+              </ExternalReference>
+              <ExternalReference id="36662">
+                <Source>OMIM</Source>
+                <Reference>608441</Reference>
+              </ExternalReference>
+              <ExternalReference id="58017">
+                <Source>Reactome</Source>
+                <Reference>Q8NF91</Reference>
+              </ExternalReference>
+              <ExternalReference id="36663">
+                <Source>SwissProt</Source>
+                <Reference>Q8NF91</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14913">
+                <GeneLocus>6q25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21650">
+      <OrphaCode>319340</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319340</ExpertLink>
+      <Name lang="en">Carney complex-trismus-pseudocamptodactyly syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15282353[PMID]</SourceOfValidation>
+          <Gene id="16502">
+            <Name lang="en">myosin heavy chain 8</Name>
+            <Symbol>MYH8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MyHC-peri</Synonym>
+              <Synonym lang="en">MyHC-pn</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133020</Reference>
+              </ExternalReference>
+              <ExternalReference id="31596">
+                <Source>Genatlas</Source>
+                <Reference>MYH8</Reference>
+              </ExternalReference>
+              <ExternalReference id="31598">
+                <Source>HGNC</Source>
+                <Reference>7578</Reference>
+              </ExternalReference>
+              <ExternalReference id="31597">
+                <Source>OMIM</Source>
+                <Reference>160741</Reference>
+              </ExternalReference>
+              <ExternalReference id="58247">
+                <Source>Reactome</Source>
+                <Reference>P13535</Reference>
+              </ExternalReference>
+              <ExternalReference id="33567">
+                <Source>SwissProt</Source>
+                <Reference>P13535</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9385">
+                <GeneLocus>17p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21661">
+      <OrphaCode>319487</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319487</ExpertLink>
+      <Name lang="en">Familial papillary or follicular thyroid carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11297621[PMID]</SourceOfValidation>
+          <Gene id="25289">
+            <Name lang="en">multiple inositol-polyphosphate phosphatase 1</Name>
+            <Symbol>MINPP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MIPP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="138511">
+                <Source>HGNC</Source>
+                <Reference>7102</Reference>
+              </ExternalReference>
+              <ExternalReference id="138512">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107789</Reference>
+              </ExternalReference>
+              <ExternalReference id="138513">
+                <Source>OMIM</Source>
+                <Reference>605391</Reference>
+              </ExternalReference>
+              <ExternalReference id="138514">
+                <Source>Genatlas</Source>
+                <Reference>MINPP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="138515">
+                <Source>Reactome</Source>
+                <Reference>Q9UNW1</Reference>
+              </ExternalReference>
+              <ExternalReference id="143818">
+                <Source>SwissProt</Source>
+                <Reference>Q9UNW1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39099">
+                <GeneLocus>10q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25381600[PMID]</SourceOfValidation>
+          <Gene id="16066">
+            <Name lang="en">forkhead box E1</Name>
+            <Symbol>FOXE1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFKH4</Synonym>
+              <Synonym lang="en">TTF-2</Synonym>
+              <Synonym lang="en">thyroid transcription factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178919</Reference>
+              </ExternalReference>
+              <ExternalReference id="29543">
+                <Source>Genatlas</Source>
+                <Reference>FOXE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29545">
+                <Source>HGNC</Source>
+                <Reference>3806</Reference>
+              </ExternalReference>
+              <ExternalReference id="29544">
+                <Source>OMIM</Source>
+                <Reference>602617</Reference>
+              </ExternalReference>
+              <ExternalReference id="33081">
+                <Source>SwissProt</Source>
+                <Reference>O00358</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21397">
+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26222560[PMID]</SourceOfValidation>
+          <Gene id="23350">
+            <Name lang="en">hyaluronan binding protein 2</Name>
+            <Symbol>HABP2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FSAP</Synonym>
+              <Synonym lang="en">HABP</Synonym>
+              <Synonym lang="en">HGFAL</Synonym>
+              <Synonym lang="en">PHBP</Synonym>
+              <Synonym lang="en">factor VII activating protein</Synonym>
+              <Synonym lang="en">plasma hyaluronan binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="96247">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148702</Reference>
+              </ExternalReference>
+              <ExternalReference id="96245">
+                <Source>Genatlas</Source>
+                <Reference>HABP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="96243">
+                <Source>HGNC</Source>
+                <Reference>4798</Reference>
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+              <ExternalReference id="96244">
+                <Source>OMIM</Source>
+                <Reference>603924</Reference>
+              </ExternalReference>
+              <ExternalReference id="96246">
+                <Source>SwissProt</Source>
+                <Reference>Q14520</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16131">
+                <GeneLocus>10q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21660">
+      <OrphaCode>319480</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319480</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with CEBPA somatic mutations</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]_22649106[PMID]</SourceOfValidation>
+          <Gene id="19235">
+            <Name lang="en">CCAAT enhancer binding protein alpha</Name>
+            <Symbol>CEBPA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">C/EBP-alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="46601">
+                <Source>Genatlas</Source>
+                <Reference>CEBPA</Reference>
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+              <ExternalReference id="46600">
+                <Source>HGNC</Source>
+                <Reference>1833</Reference>
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+              <ExternalReference id="46602">
+                <Source>OMIM</Source>
+                <Reference>116897</Reference>
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+              <ExternalReference id="60043">
+                <Source>Reactome</Source>
+                <Reference>P49715</Reference>
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+              <ExternalReference id="46603">
+                <Source>SwissProt</Source>
+                <Reference>P49715</Reference>
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+              <ExternalReference id="60042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000245848</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.11</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21663">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319504</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 8</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21549344[PMID]</SourceOfValidation>
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+            <Name lang="en">alanyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>AARS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1270</Synonym>
+              <Synonym lang="en">alanine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">bA444E17.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58586">
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+                <Reference>ENSG00000124608</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AARS2</Reference>
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+              <ExternalReference id="51973">
+                <Source>HGNC</Source>
+                <Reference>21022</Reference>
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+              <ExternalReference id="51974">
+                <Source>OMIM</Source>
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+              <ExternalReference id="58587">
+                <Source>Reactome</Source>
+                <Reference>Q5JTZ9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JTZ9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319465</ExpertLink>
+      <Name lang="en">Inherited acute myeloid leukemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>CEBPA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>CEBPA</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="60043">
+                <Source>Reactome</Source>
+                <Reference>P49715</Reference>
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+                <Reference>P49715</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000245848</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">transglutaminase 6</Name>
+            <Symbol>TGM6</Symbol>
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+              <Synonym lang="en">TGY</Synonym>
+              <Synonym lang="en">dJ734P14.3</Synonym>
+              <Synonym lang="en">protein-glutamine gamma-glutamyltransferase 6</Synonym>
+              <Synonym lang="en">spinocerebellar ataxia 35</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">ERCC excision repair 6 like 2</Name>
+            <Symbol>ERCC6L2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ37706</Synonym>
+              <Synonym lang="en">HEBO</Synonym>
+              <Synonym lang="en">RAD26L</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000182150</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ERCC6L2</Reference>
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+          <SourceOfValidation>21892162[PMID]_25397911[PMID]</SourceOfValidation>
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+              <Synonym lang="en">NFE1B</Synonym>
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+                <Reference>ENSG00000179348</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
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+              <Synonym lang="en">BRCA1/BRCA2-containing complex, subunit 2</Synonym>
+              <Synonym lang="en">BRCC2</Synonym>
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+              <ExternalReference id="26233">
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+                <Reference>BRCA2</Reference>
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+                <Reference>1101</Reference>
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+                <Reference>600185</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21625">
+      <OrphaCode>319199</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319199</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 53</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22717650[PMID]</SourceOfValidation>
+          <Gene id="21757">
+            <Name lang="en">VPS37A subunit of ESCRT-I</Name>
+            <Symbol>VPS37A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ32642</Synonym>
+              <Synonym lang="en">HCRP1</Synonym>
+              <Synonym lang="en">Hepatocellular carcinoma related protein 1</Synonym>
+              <Synonym lang="en">SPG53</Synonym>
+              <Synonym lang="en">hepatocellular carcinoma related protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155975</Reference>
+              </ExternalReference>
+              <ExternalReference id="76705">
+                <Source>Genatlas</Source>
+                <Reference>VPS37A</Reference>
+              </ExternalReference>
+              <ExternalReference id="76703">
+                <Source>HGNC</Source>
+                <Reference>24928</Reference>
+              </ExternalReference>
+              <ExternalReference id="76704">
+                <Source>OMIM</Source>
+                <Reference>609927</Reference>
+              </ExternalReference>
+              <ExternalReference id="83640">
+                <Source>Reactome</Source>
+                <Reference>Q8NEZ2</Reference>
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+              <ExternalReference id="76706">
+                <Source>SwissProt</Source>
+                <Reference>Q8NEZ2</Reference>
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+            <LocusList count="1">
+              <Locus id="12339">
+                <GeneLocus>8p22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="21618">
+      <OrphaCode>319160</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319160</ExpertLink>
+      <Name lang="en">Congenital myopathy with internal nuclei and atypical cores</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22818856[PMID]</SourceOfValidation>
+          <Gene id="21415">
+            <Name lang="en">coiled-coil domain containing 78</Name>
+            <Symbol>CCDC78</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ34512</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162004</Reference>
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+              <ExternalReference id="70892">
+                <Source>Genatlas</Source>
+                <Reference>CCDC78</Reference>
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+              <ExternalReference id="70890">
+                <Source>HGNC</Source>
+                <Reference>14153</Reference>
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+              <ExternalReference id="70891">
+                <Source>OMIM</Source>
+                <Reference>614666</Reference>
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+              <ExternalReference id="70893">
+                <Source>SwissProt</Source>
+                <Reference>A2IDD5</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21622">
+      <OrphaCode>319189</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=319189</ExpertLink>
+      <Name lang="en">Familial cortical myoclonus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22926851[PMID]</SourceOfValidation>
+          <Gene id="21756">
+            <Name lang="en">nucleolar protein 3</Name>
+            <Symbol>NOL3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARC</Synonym>
+              <Synonym lang="en">CARD2</Synonym>
+              <Synonym lang="en">MYP</Synonym>
+              <Synonym lang="en">NOP30</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143510">
+                <Source>Reactome</Source>
+                <Reference>O60936</Reference>
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+              <ExternalReference id="76694">
+                <Source>Genatlas</Source>
+                <Reference>NOL3</Reference>
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+              <ExternalReference id="76692">
+                <Source>HGNC</Source>
+                <Reference>7869</Reference>
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+              <ExternalReference id="76693">
+                <Source>OMIM</Source>
+                <Reference>605235</Reference>
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+              <ExternalReference id="76695">
+                <Source>SwissProt</Source>
+                <Reference>O60936</Reference>
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+              <ExternalReference id="83639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140939</Reference>
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+                <GeneLocus>16q22.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21623">
+      <OrphaCode>319192</OrphaCode>
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+      <Name lang="en">Diencephalic-mesencephalic junction dysplasia</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>30178464[PMID]</SourceOfValidation>
+          <Gene id="28030">
+            <Name lang="en">protocadherin 12</Name>
+            <Symbol>PCDH12</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VE-cadherin-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="162860">
+                <Source>HGNC</Source>
+                <Reference>8657</Reference>
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+              <ExternalReference id="162861">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113555</Reference>
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+              <ExternalReference id="162862">
+                <Source>SwissProt</Source>
+                <Reference>Q9NPG4</Reference>
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+              <ExternalReference id="162863">
+                <Source>OMIM</Source>
+                <Reference>605622</Reference>
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+                <GeneLocus>5q31.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21621">
+      <OrphaCode>319182</OrphaCode>
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+      <Name lang="en">Wiedemann-Steiner syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22795537[PMID]</SourceOfValidation>
+          <Gene id="16409">
+            <Name lang="en">lysine methyltransferase 2A</Name>
+            <Symbol>KMT2A</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">CXXC7</Synonym>
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+              <Synonym lang="en">HTRX1</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
+              <Synonym lang="en">MLL1A</Synonym>
+              <Synonym lang="en">TRX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190397">
+                <Source>IUPHAR</Source>
+                <Reference>2688</Reference>
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+              <ExternalReference id="59489">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118058</Reference>
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+              <ExternalReference id="95302">
+                <Source>Genatlas</Source>
+                <Reference>KMT2A</Reference>
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+              <ExternalReference id="31173">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+    <Disorder id="21581">
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+      <Name lang="en">Combined immunodeficiency due to ORAI1 deficiency</Name>
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+          <Gene id="18443">
+            <Name lang="en">ORAI calcium release-activated calcium modulator 1</Name>
+            <Symbol>ORAI1</Symbol>
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+              <Synonym lang="en">CRACM1</Synonym>
+              <Synonym lang="en">FLJ14466</Synonym>
+              <Synonym lang="en">calcium release-activated calcium modulator 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95176">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000276045</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ORAI1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96D31</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96D31</Reference>
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+      <Name lang="en">Severe combined immunodeficiency due to DNA-PKcs deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">DNA-dependent protein kinase</Synonym>
+              <Synonym lang="en">DNA-dependent protein kinase catalytic subunit</Synonym>
+              <Synonym lang="en">DNAPK</Synonym>
+              <Synonym lang="en">DNAPKc</Synonym>
+              <Synonym lang="en">DNPK1</Synonym>
+              <Synonym lang="en">XRCC7</Synonym>
+              <Synonym lang="en">p350</Synonym>
+              <Synonym lang="en">p460</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Combined immunodeficiency due to STIM1 deficiency</Name>
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+              <Synonym lang="en">D11S4896E</Synonym>
+              <Synonym lang="en">GOK</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q13586</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13586</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Pancytopenia due to IKZF1 mutations</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">IKAROS family zinc finger 1</Name>
+            <Symbol>IKZF1</Symbol>
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+              <Synonym lang="en">IKAROS</Synonym>
+              <Synonym lang="en">LyF-1</Synonym>
+              <Synonym lang="en">PPP1R92</Synonym>
+              <Synonym lang="en">hIk-1</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 92</Synonym>
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+                <Source>SwissProt</Source>
+                <Reference>Q13422</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185811</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21585">
+      <OrphaCode>317476</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=317476</ExpertLink>
+      <Name lang="en">X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19585">
+            <Name lang="en">magnesium transporter 1</Name>
+            <Symbol>MAGT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DKFZp564K142</Synonym>
+              <Synonym lang="en">IAP</Synonym>
+              <Synonym lang="en">MRX95</Synonym>
+              <Synonym lang="en">OST3B</Synonym>
+              <Synonym lang="en">SLC58A1</Synonym>
+              <Synonym lang="en">oligosaccharyltransferase 3 homolog B (S. cerevisiae)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190444">
+                <Source>IUPHAR</Source>
+                <Reference>3039</Reference>
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+              <ExternalReference id="58458">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102158</Reference>
+              </ExternalReference>
+              <ExternalReference id="50135">
+                <Source>Genatlas</Source>
+                <Reference>MAGT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="50136">
+                <Source>HGNC</Source>
+                <Reference>28880</Reference>
+              </ExternalReference>
+              <ExternalReference id="50137">
+                <Source>OMIM</Source>
+                <Reference>300715</Reference>
+              </ExternalReference>
+              <ExternalReference id="84575">
+                <Source>Reactome</Source>
+                <Reference>Q9H0U3</Reference>
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+              <ExternalReference id="50138">
+                <Source>SwissProt</Source>
+                <Reference>Q9H0U3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60297">
+                <GeneLocus>Xq21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21549">
+      <OrphaCode>315311</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=315311</ExpertLink>
+      <Name lang="en">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15839">
+            <Name lang="en">cytochrome P450 family 21 subfamily A member 2</Name>
+            <Symbol>CYP21A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CA21H</Synonym>
+              <Synonym lang="en">CAH1</Synonym>
+              <Synonym lang="en">CPS1</Synonym>
+              <Synonym lang="en">P450c21B</Synonym>
+              <Synonym lang="en">Steroid 21-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193635">
+                <Source>IUPHAR</Source>
+                <Reference>1364</Reference>
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+              <ExternalReference id="59641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231852</Reference>
+              </ExternalReference>
+              <ExternalReference id="28434">
+                <Source>Genatlas</Source>
+                <Reference>CYP21A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28436">
+                <Source>HGNC</Source>
+                <Reference>2600</Reference>
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+              <ExternalReference id="50807">
+                <Source>OMIM</Source>
+                <Reference>613815</Reference>
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+              <ExternalReference id="59642">
+                <Source>Reactome</Source>
+                <Reference>P08686</Reference>
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+              <ExternalReference id="32850">
+                <Source>SwissProt</Source>
+                <Reference>P08686</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66679">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21548">
+      <OrphaCode>315306</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=315306</ExpertLink>
+      <Name lang="en">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15839">
+            <Name lang="en">cytochrome P450 family 21 subfamily A member 2</Name>
+            <Symbol>CYP21A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CA21H</Synonym>
+              <Synonym lang="en">CAH1</Synonym>
+              <Synonym lang="en">CPS1</Synonym>
+              <Synonym lang="en">P450c21B</Synonym>
+              <Synonym lang="en">Steroid 21-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193635">
+                <Source>IUPHAR</Source>
+                <Reference>1364</Reference>
+              </ExternalReference>
+              <ExternalReference id="59641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231852</Reference>
+              </ExternalReference>
+              <ExternalReference id="28434">
+                <Source>Genatlas</Source>
+                <Reference>CYP21A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28436">
+                <Source>HGNC</Source>
+                <Reference>2600</Reference>
+              </ExternalReference>
+              <ExternalReference id="50807">
+                <Source>OMIM</Source>
+                <Reference>613815</Reference>
+              </ExternalReference>
+              <ExternalReference id="59642">
+                <Source>Reactome</Source>
+                <Reference>P08686</Reference>
+              </ExternalReference>
+              <ExternalReference id="32850">
+                <Source>SwissProt</Source>
+                <Reference>P08686</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21546">
+      <OrphaCode>314978</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314978</ExpertLink>
+      <Name lang="en">X-linked non progressive cerebellar ataxia</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21434">
+            <Name lang="en">ATPase plasma membrane Ca2+ transporting 3</Name>
+            <Symbol>ATP2B3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CFAP39</Synonym>
+              <Synonym lang="en">PMCA3</Synonym>
+              <Synonym lang="en">Plasma membrane calcium-transporting ATPase 3</Synonym>
+              <Synonym lang="en">cilia and flagella associated protein 39</Synonym>
+              <Synonym lang="en">plasma membrane calcium-transporting ATPase 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83502">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067842</Reference>
+              </ExternalReference>
+              <ExternalReference id="72113">
+                <Source>Genatlas</Source>
+                <Reference>ATP2B3</Reference>
+              </ExternalReference>
+              <ExternalReference id="72111">
+                <Source>HGNC</Source>
+                <Reference>816</Reference>
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+              <ExternalReference id="72112">
+                <Source>OMIM</Source>
+                <Reference>300014</Reference>
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+              <ExternalReference id="83501">
+                <Source>Reactome</Source>
+                <Reference>Q16720</Reference>
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+              <ExternalReference id="72114">
+                <Source>SwissProt</Source>
+                <Reference>Q16720</Reference>
+              </ExternalReference>
+              <ExternalReference id="190546">
+                <Source>IUPHAR</Source>
+                <Reference>845</Reference>
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+              <Locus id="60501">
+                <GeneLocus>Xq28</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21543">
+      <OrphaCode>314950</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314950</ExpertLink>
+      <Name lang="en">Primary hypereosinophilic syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
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+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+              <ExternalReference id="29431">
+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+              <ExternalReference id="82916">
+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+              <ExternalReference id="29430">
+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22460074[PMID]_24577808[PMID]</SourceOfValidation>
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+            <Symbol>FIP1L1</Symbol>
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+              <Synonym lang="en">DKFZp586K0717</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145216</Reference>
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+              <ExternalReference id="37458">
+                <Source>Genatlas</Source>
+                <Reference>FIP1L1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19124</Reference>
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+              <ExternalReference id="29473">
+                <Source>OMIM</Source>
+                <Reference>607686</Reference>
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+              <ExternalReference id="98058">
+                <Source>Reactome</Source>
+                <Reference>Q6UN15</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6UN15</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22460074[PMID]_24577808[PMID]</SourceOfValidation>
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+            <Name lang="en">platelet derived growth factor receptor alpha</Name>
+            <Symbol>PDGFRA</Symbol>
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+              <Synonym lang="en">GAS9</Synonym>
+              <Synonym lang="en">PDGFR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134853</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PDGFRA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8803</Reference>
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+              <ExternalReference id="83023">
+                <Source>IUPHAR</Source>
+                <Reference>1803</Reference>
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+                <Source>OMIM</Source>
+                <Reference>173490</Reference>
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+              <ExternalReference id="58604">
+                <Source>Reactome</Source>
+                <Reference>P16234</Reference>
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+              <ExternalReference id="33733">
+                <Source>SwissProt</Source>
+                <Reference>P16234</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22460074[PMID]_24577808[PMID]</SourceOfValidation>
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+            <Symbol>PDGFRB</Symbol>
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+              <Synonym lang="en">JTK12</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113721</Reference>
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+              <ExternalReference id="34923">
+                <Source>Genatlas</Source>
+                <Reference>PDGFRB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8804</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1804</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P09619</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09619</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ETS variant transcription factor 6</Name>
+            <Symbol>ETV6</Symbol>
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+              <Synonym lang="en">TEL oncogene</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ETV6</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>600618</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P41212</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+    <Disorder id="21538">
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+      <Name lang="en">Mild Canavan disease</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15958">
+            <Name lang="en">aspartoacylase</Name>
+            <Symbol>ASPA</Symbol>
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+              <Synonym lang="en">ASP</Synonym>
+              <Synonym lang="en">Canavan disease</Synonym>
+              <Synonym lang="en">aminoacylase 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108381</Reference>
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+              <ExternalReference id="28987">
+                <Source>Genatlas</Source>
+                <Reference>ASPA</Reference>
+              </ExternalReference>
+              <ExternalReference id="28989">
+                <Source>HGNC</Source>
+                <Reference>756</Reference>
+              </ExternalReference>
+              <ExternalReference id="28988">
+                <Source>OMIM</Source>
+                <Reference>608034</Reference>
+              </ExternalReference>
+              <ExternalReference id="97212">
+                <Source>Reactome</Source>
+                <Reference>P45381</Reference>
+              </ExternalReference>
+              <ExternalReference id="32969">
+                <Source>SwissProt</Source>
+                <Reference>P45381</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22063">
+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21537">
+      <OrphaCode>314911</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314911</ExpertLink>
+      <Name lang="en">Severe Canavan disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301412[PMID]_21625469[PMID]</SourceOfValidation>
+          <Gene id="15958">
+            <Name lang="en">aspartoacylase</Name>
+            <Symbol>ASPA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ACY2</Synonym>
+              <Synonym lang="en">ASP</Synonym>
+              <Synonym lang="en">Canavan disease</Synonym>
+              <Synonym lang="en">aminoacylase 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56685">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108381</Reference>
+              </ExternalReference>
+              <ExternalReference id="28987">
+                <Source>Genatlas</Source>
+                <Reference>ASPA</Reference>
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+              <ExternalReference id="28989">
+                <Source>HGNC</Source>
+                <Reference>756</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608034</Reference>
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+              <ExternalReference id="97212">
+                <Source>Reactome</Source>
+                <Reference>P45381</Reference>
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+              <ExternalReference id="32969">
+                <Source>SwissProt</Source>
+                <Reference>P45381</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>314679</OrphaCode>
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+      <Name lang="en">Cerebrofacioarticular syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24056717[PMID]</SourceOfValidation>
+          <Gene id="22551">
+            <Name lang="en">dachsous cadherin-related 1</Name>
+            <Symbol>DCHS1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDHR6</Synonym>
+              <Synonym lang="en">FIB1</Synonym>
+              <Synonym lang="en">FLJ11790</Synonym>
+              <Synonym lang="en">KIAA1773</Synonym>
+              <Synonym lang="en">cadherin-related family member 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="84099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166341</Reference>
+              </ExternalReference>
+              <ExternalReference id="82709">
+                <Source>Genatlas</Source>
+                <Reference>DCHS1</Reference>
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+              <ExternalReference id="82707">
+                <Source>HGNC</Source>
+                <Reference>13681</Reference>
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+              <ExternalReference id="82708">
+                <Source>OMIM</Source>
+                <Reference>603057</Reference>
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+              <ExternalReference id="82710">
+                <Source>SwissProt</Source>
+                <Reference>Q96JQ0</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24056717[PMID]</SourceOfValidation>
+          <Gene id="22552">
+            <Name lang="en">FAT atypical cadherin 4</Name>
+            <Symbol>FAT4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CDHF14</Synonym>
+              <Synonym lang="en">CDHR11</Synonym>
+              <Synonym lang="en">FAT-J</Synonym>
+              <Synonym lang="en">cadherin-related family member 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82712">
+                <Source>HGNC</Source>
+                <Reference>23109</Reference>
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+              <ExternalReference id="82713">
+                <Source>OMIM</Source>
+                <Reference>612411</Reference>
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+              <ExternalReference id="82715">
+                <Source>SwissProt</Source>
+                <Reference>Q6V0I7</Reference>
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+              <ExternalReference id="84582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196159</Reference>
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+              <ExternalReference id="82714">
+                <Source>Genatlas</Source>
+                <Reference>FAT4</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q28.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21512">
+      <OrphaCode>314667</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314667</ExpertLink>
+      <Name lang="en">TMEM165-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22683087[PMID]</SourceOfValidation>
+          <Gene id="21605">
+            <Name lang="en">transmembrane protein 165</Name>
+            <Symbol>TMEM165</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GDT1</Synonym>
+              <Synonym lang="en">SLC64A1</Synonym>
+              <Synonym lang="en">TMPT27</Synonym>
+              <Synonym lang="en">TPA regulated locus</Synonym>
+              <Synonym lang="en">TPARL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83576">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134851</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>30760</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HC07</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>3050</Reference>
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+      <Name lang="en">Combined immunodeficiency due to STK4 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22294732[PMID]_22174160[PMID]</SourceOfValidation>
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+            <Symbol>STK4</Symbol>
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+              <Synonym lang="en">Kinase responsive to stress 2</Synonym>
+              <Synonym lang="en">MST1</Synonym>
+              <Synonym lang="en">Mammalian sterile 20-like 1</Synonym>
+              <Synonym lang="en">YSK3</Synonym>
+              <Synonym lang="en">Yeast Ste20-like</Synonym>
+              <Synonym lang="en">hippo (Drosophila) homolog</Synonym>
+              <Synonym lang="en">kinase responsive to stress 2</Synonym>
+              <Synonym lang="en">mammalian sterile 20-like 1</Synonym>
+              <Synonym lang="en">yeast Ste20-like</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101109</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>11408</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2225</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604965</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Variant ABeta2M amyloidosis</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166710</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Non-progressive cerebellar ataxia with intellectual disability</Name>
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+            <Symbol>CAMTA1</Symbol>
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+              <Synonym lang="en">KIAA0833</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Reference>Q9Y6Y1</Reference>
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+      <Name lang="en">Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121879</Reference>
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+      <Name lang="en">Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion</Name>
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+          <SourceOfValidation>23950017[PMID]</SourceOfValidation>
+          <Gene id="23085">
+            <Name lang="en">purine rich element binding protein A</Name>
+            <Symbol>PURA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PUR-ALPHA</Synonym>
+              <Synonym lang="en">PUR1</Synonym>
+              <Synonym lang="en">PURALPHA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143209">
+                <Source>Reactome</Source>
+                <Reference>Q00577</Reference>
+              </ExternalReference>
+              <ExternalReference id="95008">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185129</Reference>
+              </ExternalReference>
+              <ExternalReference id="95006">
+                <Source>Genatlas</Source>
+                <Reference>PURA</Reference>
+              </ExternalReference>
+              <ExternalReference id="95004">
+                <Source>HGNC</Source>
+                <Reference>9701</Reference>
+              </ExternalReference>
+              <ExternalReference id="95005">
+                <Source>OMIM</Source>
+                <Reference>600473</Reference>
+              </ExternalReference>
+              <ExternalReference id="95007">
+                <Source>SwissProt</Source>
+                <Reference>Q00577</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38133">
+                <GeneLocus>5q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21505">
+      <OrphaCode>314629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314629</ExpertLink>
+      <Name lang="en">CLN11 disease</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22608501[PMID]</SourceOfValidation>
+          <Gene id="17726">
+            <Name lang="en">granulin precursor</Name>
+            <Symbol>GRN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLN11</Synonym>
+              <Synonym lang="en">PCDGF</Synonym>
+              <Synonym lang="en">PGRN</Synonym>
+              <Synonym lang="en">progranulin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126377">
+                <Source>Reactome</Source>
+                <Reference>P28799</Reference>
+              </ExternalReference>
+              <ExternalReference id="60525">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000030582</Reference>
+              </ExternalReference>
+              <ExternalReference id="39251">
+                <Source>Genatlas</Source>
+                <Reference>GRN</Reference>
+              </ExternalReference>
+              <ExternalReference id="39252">
+                <Source>HGNC</Source>
+                <Reference>4601</Reference>
+              </ExternalReference>
+              <ExternalReference id="39253">
+                <Source>OMIM</Source>
+                <Reference>138945</Reference>
+              </ExternalReference>
+              <ExternalReference id="39254">
+                <Source>SwissProt</Source>
+                <Reference>P28799</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26739">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21507">
+      <OrphaCode>314637</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314637</ExpertLink>
+      <Name lang="en">Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21602">
+            <Name lang="en">mitochondrial tRNA translation optimization 1</Name>
+            <Symbol>MTO1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135297</Reference>
+              </ExternalReference>
+              <ExternalReference id="74999">
+                <Source>Genatlas</Source>
+                <Reference>MTO1</Reference>
+              </ExternalReference>
+              <ExternalReference id="74997">
+                <Source>HGNC</Source>
+                <Reference>19261</Reference>
+              </ExternalReference>
+              <ExternalReference id="74998">
+                <Source>OMIM</Source>
+                <Reference>614667</Reference>
+              </ExternalReference>
+              <ExternalReference id="98100">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2Z2</Reference>
+              </ExternalReference>
+              <ExternalReference id="75000">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2Z2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21319">
+                <GeneLocus>6q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21506">
+      <OrphaCode>314632</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314632</ExpertLink>
+      <Name lang="en">ATP13A2-related juvenile neuronal ceroid lipofuscinosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22388936[PMID]</SourceOfValidation>
+          <Gene id="15965">
+            <Name lang="en">ATPase cation transporting 13A2</Name>
+            <Symbol>ATP13A2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLN12</Synonym>
+              <Synonym lang="en">HSA9947</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193616">
+                <Source>IUPHAR</Source>
+                <Reference>3156</Reference>
+              </ExternalReference>
+              <ExternalReference id="57840">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159363</Reference>
+              </ExternalReference>
+              <ExternalReference id="29023">
+                <Source>Genatlas</Source>
+                <Reference>ATP13A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="29021">
+                <Source>HGNC</Source>
+                <Reference>30213</Reference>
+              </ExternalReference>
+              <ExternalReference id="29020">
+                <Source>OMIM</Source>
+                <Reference>610513</Reference>
+              </ExternalReference>
+              <ExternalReference id="97213">
+                <Source>Reactome</Source>
+                <Reference>Q9NQ11</Reference>
+              </ExternalReference>
+              <ExternalReference id="32976">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQ11</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66641">
+                <GeneLocus>1p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21532">
+      <OrphaCode>314802</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314802</ExpertLink>
+      <Name lang="en">Short stature due to partial GHR deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16122">
+            <Name lang="en">growth hormone receptor</Name>
+            <Symbol>GHR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GHBP</Synonym>
+              <Synonym lang="en">growth hormone binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58432">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112964</Reference>
+              </ExternalReference>
+              <ExternalReference id="29811">
+                <Source>Genatlas</Source>
+                <Reference>GHR</Reference>
+              </ExternalReference>
+              <ExternalReference id="29813">
+                <Source>HGNC</Source>
+                <Reference>4263</Reference>
+              </ExternalReference>
+              <ExternalReference id="82929">
+                <Source>IUPHAR</Source>
+                <Reference>1720</Reference>
+              </ExternalReference>
+              <ExternalReference id="29812">
+                <Source>OMIM</Source>
+                <Reference>600946</Reference>
+              </ExternalReference>
+              <ExternalReference id="58433">
+                <Source>Reactome</Source>
+                <Reference>P10912</Reference>
+              </ExternalReference>
+              <ExternalReference id="33137">
+                <Source>SwissProt</Source>
+                <Reference>P10912</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21155">
+                <GeneLocus>5p13.1-p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21533">
+      <OrphaCode>314811</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314811</ExpertLink>
+      <Name lang="en">Short stature due to GHSR deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18439">
+            <Name lang="en">growth hormone secretagogue receptor</Name>
+            <Symbol>GHSR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60053">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121853</Reference>
+              </ExternalReference>
+              <ExternalReference id="42273">
+                <Source>Genatlas</Source>
+                <Reference>GHSR</Reference>
+              </ExternalReference>
+              <ExternalReference id="42274">
+                <Source>HGNC</Source>
+                <Reference>4267</Reference>
+              </ExternalReference>
+              <ExternalReference id="83142">
+                <Source>IUPHAR</Source>
+                <Reference>246</Reference>
+              </ExternalReference>
+              <ExternalReference id="42275">
+                <Source>OMIM</Source>
+                <Reference>601898</Reference>
+              </ExternalReference>
+              <ExternalReference id="60054">
+                <Source>Reactome</Source>
+                <Reference>Q92847</Reference>
+              </ExternalReference>
+              <ExternalReference id="42276">
+                <Source>SwissProt</Source>
+                <Reference>Q92847</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10739">
+                <GeneLocus>3q26.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21528">
+      <OrphaCode>314777</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314777</ExpertLink>
+      <Name lang="en">Familial isolated pituitary adenoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28413019[PMID]</SourceOfValidation>
+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
+            <Symbol>CDH23</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR23</Synonym>
+              <Synonym lang="en">cadherin-related family member 23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
+              </ExternalReference>
+              <ExternalReference id="26431">
+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
+              </ExternalReference>
+              <ExternalReference id="26433">
+                <Source>HGNC</Source>
+                <Reference>13733</Reference>
+              </ExternalReference>
+              <ExternalReference id="26432">
+                <Source>OMIM</Source>
+                <Reference>605516</Reference>
+              </ExternalReference>
+              <ExternalReference id="32388">
+                <Source>SwissProt</Source>
+                <Reference>Q9H251</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7377">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22720333[PMID]</SourceOfValidation>
+          <Gene id="18425">
+            <Name lang="en">aryl hydrocarbon receptor interacting protein</Name>
+            <Symbol>AIP</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ARA9</Synonym>
+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135060">
+                <Source>Reactome</Source>
+                <Reference>O00170</Reference>
+              </ExternalReference>
+              <ExternalReference id="57241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
+              </ExternalReference>
+              <ExternalReference id="42017">
+                <Source>Genatlas</Source>
+                <Reference>AIP</Reference>
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+              <ExternalReference id="42018">
+                <Source>HGNC</Source>
+                <Reference>358</Reference>
+              </ExternalReference>
+              <ExternalReference id="42019">
+                <Source>OMIM</Source>
+                <Reference>605555</Reference>
+              </ExternalReference>
+              <ExternalReference id="42020">
+                <Source>SwissProt</Source>
+                <Reference>O00170</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>11q13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="21529">
+      <OrphaCode>314786</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314786</ExpertLink>
+      <Name lang="en">Silent pituitary adenoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321498[PMID]</SourceOfValidation>
+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56835">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133895</Reference>
+              </ExternalReference>
+              <ExternalReference id="31084">
+                <Source>Genatlas</Source>
+                <Reference>MEN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31086">
+                <Source>HGNC</Source>
+                <Reference>7010</Reference>
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+              <ExternalReference id="50621">
+                <Source>OMIM</Source>
+                <Reference>613733</Reference>
+              </ExternalReference>
+              <ExternalReference id="82991">
+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
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+              <ExternalReference id="33454">
+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
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+                <GeneLocus>11q13</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321498[PMID]</SourceOfValidation>
+          <Gene id="18425">
+            <Name lang="en">aryl hydrocarbon receptor interacting protein</Name>
+            <Symbol>AIP</Symbol>
+            <SynonymList count="10">
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+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="135060">
+                <Source>Reactome</Source>
+                <Reference>O00170</Reference>
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+              <ExternalReference id="57241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
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+              <ExternalReference id="42017">
+                <Source>Genatlas</Source>
+                <Reference>AIP</Reference>
+              </ExternalReference>
+              <ExternalReference id="42018">
+                <Source>HGNC</Source>
+                <Reference>358</Reference>
+              </ExternalReference>
+              <ExternalReference id="42019">
+                <Source>OMIM</Source>
+                <Reference>605555</Reference>
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+              <ExternalReference id="42020">
+                <Source>SwissProt</Source>
+                <Reference>O00170</Reference>
+              </ExternalReference>
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+              <Locus id="35951">
+                <GeneLocus>11q13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21530">
+      <OrphaCode>314790</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314790</ExpertLink>
+      <Name lang="en">Null pituitary adenoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321498[PMID]</SourceOfValidation>
+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56835">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133895</Reference>
+              </ExternalReference>
+              <ExternalReference id="31084">
+                <Source>Genatlas</Source>
+                <Reference>MEN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31086">
+                <Source>HGNC</Source>
+                <Reference>7010</Reference>
+              </ExternalReference>
+              <ExternalReference id="50621">
+                <Source>OMIM</Source>
+                <Reference>613733</Reference>
+              </ExternalReference>
+              <ExternalReference id="82991">
+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+              <ExternalReference id="33454">
+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9189">
+                <GeneLocus>11q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321498[PMID]</SourceOfValidation>
+          <Gene id="18425">
+            <Name lang="en">aryl hydrocarbon receptor interacting protein</Name>
+            <Symbol>AIP</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ARA9</Synonym>
+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135060">
+                <Source>Reactome</Source>
+                <Reference>O00170</Reference>
+              </ExternalReference>
+              <ExternalReference id="57241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
+              </ExternalReference>
+              <ExternalReference id="42017">
+                <Source>Genatlas</Source>
+                <Reference>AIP</Reference>
+              </ExternalReference>
+              <ExternalReference id="42018">
+                <Source>HGNC</Source>
+                <Reference>358</Reference>
+              </ExternalReference>
+              <ExternalReference id="42019">
+                <Source>OMIM</Source>
+                <Reference>605555</Reference>
+              </ExternalReference>
+              <ExternalReference id="42020">
+                <Source>SwissProt</Source>
+                <Reference>O00170</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35951">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21531">
+      <OrphaCode>314795</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314795</ExpertLink>
+      <Name lang="en">SHOX-related short stature</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26698168[PMID]</SourceOfValidation>
+          <Gene id="15291">
+            <Name lang="en">short stature homeobox</Name>
+            <Symbol>SHOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GCFX</Synonym>
+              <Synonym lang="en">PHOG</Synonym>
+              <Synonym lang="en">SHOXY</Synonym>
+              <Synonym lang="en">SS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="36285">
+                <Source>OMIM</Source>
+                <Reference>312865</Reference>
+              </ExternalReference>
+              <ExternalReference id="95202">
+                <Source>OMIM</Source>
+                <Reference>400020</Reference>
+              </ExternalReference>
+              <ExternalReference id="33849">
+                <Source>SwissProt</Source>
+                <Reference>O15266</Reference>
+              </ExternalReference>
+              <ExternalReference id="57939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185960</Reference>
+              </ExternalReference>
+              <ExternalReference id="25813">
+                <Source>Genatlas</Source>
+                <Reference>SHOX</Reference>
+              </ExternalReference>
+              <ExternalReference id="25815">
+                <Source>HGNC</Source>
+                <Reference>10853</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="69349">
+                <GeneLocus>Xp22.33 and Yp11.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21520">
+      <OrphaCode>314718</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314718</ExpertLink>
+      <Name lang="en">Lethal arteriopathy syndrome due to fibulin-4 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22943132[PMID]</SourceOfValidation>
+          <Gene id="15914">
+            <Name lang="en">EGF containing fibulin extracellular matrix protein 2</Name>
+            <Symbol>EFEMP2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FBLN4</Synonym>
+              <Synonym lang="en">UPH1</Synonym>
+              <Synonym lang="en">fibulin 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59560">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172638</Reference>
+              </ExternalReference>
+              <ExternalReference id="37002">
+                <Source>Genatlas</Source>
+                <Reference>EFEMP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28784">
+                <Source>HGNC</Source>
+                <Reference>3219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28783">
+                <Source>OMIM</Source>
+                <Reference>604633</Reference>
+              </ExternalReference>
+              <ExternalReference id="82890">
+                <Source>Reactome</Source>
+                <Reference>O95967</Reference>
+              </ExternalReference>
+              <ExternalReference id="32927">
+                <Source>SwissProt</Source>
+                <Reference>O95967</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21295">
+                <GeneLocus>11q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21521">
+      <OrphaCode>314721</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314721</ExpertLink>
+      <Name lang="en">Atypical dentin dysplasia due to SMOC2 deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22152679[PMID]</SourceOfValidation>
+          <Gene id="21166">
+            <Name lang="en">SPARC related modular calcium binding 2</Name>
+            <Symbol>SMOC2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SMAP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83393">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112562</Reference>
+              </ExternalReference>
+              <ExternalReference id="69618">
+                <Source>Genatlas</Source>
+                <Reference>SMOC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="69616">
+                <Source>HGNC</Source>
+                <Reference>20323</Reference>
+              </ExternalReference>
+              <ExternalReference id="69617">
+                <Source>OMIM</Source>
+                <Reference>607223</Reference>
+              </ExternalReference>
+              <ExternalReference id="69619">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3U7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11983">
+                <GeneLocus>6q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22484">
+      <OrphaCode>370109</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370109</ExpertLink>
+      <Name lang="en">Ataxia-telangiectasia variant</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23946315[PMID]</SourceOfValidation>
+          <Gene id="15962">
+            <Name lang="en">ATM serine/threonine kinase</Name>
+            <Symbol>ATM</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TEL1</Synonym>
+              <Synonym lang="en">TEL1, telomere maintenance 1, homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">TELO1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="32973">
+                <Source>SwissProt</Source>
+                <Reference>Q13315</Reference>
+              </ExternalReference>
+              <ExternalReference id="56781">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149311</Reference>
+              </ExternalReference>
+              <ExternalReference id="29006">
+                <Source>Genatlas</Source>
+                <Reference>ATM</Reference>
+              </ExternalReference>
+              <ExternalReference id="29008">
+                <Source>HGNC</Source>
+                <Reference>795</Reference>
+              </ExternalReference>
+              <ExternalReference id="82895">
+                <Source>IUPHAR</Source>
+                <Reference>1934</Reference>
+              </ExternalReference>
+              <ExternalReference id="29007">
+                <Source>OMIM</Source>
+                <Reference>607585</Reference>
+              </ExternalReference>
+              <ExternalReference id="56782">
+                <Source>Reactome</Source>
+                <Reference>Q13315</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22205">
+                <GeneLocus>11q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22482">
+      <OrphaCode>370103</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370103</ExpertLink>
+      <Name lang="en">Primary dystonia, DYT17 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18688663[PMID]</SourceOfValidation>
+          <Gene id="21209">
+            <Name lang="en">dystonia 17</Name>
+            <Symbol>DYT17</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="70454">
+                <Source>HGNC</Source>
+                <Reference>35416</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12067">
+                <GeneLocus>20p11.22-q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22481">
+      <OrphaCode>370097</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370097</ExpertLink>
+      <Name lang="en">Oculocutaneous albinism type 6</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23364476[PMID]</SourceOfValidation>
+          <Gene id="22546">
+            <Name lang="en">solute carrier family 24 member 5</Name>
+            <Symbol>SLC24A5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">JSX</Synonym>
+              <Synonym lang="en">OCA6</Synonym>
+              <Synonym lang="en">oculocutaneous albinism 6 (autosomal recessive)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="84096">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188467</Reference>
+              </ExternalReference>
+              <ExternalReference id="82690">
+                <Source>Genatlas</Source>
+                <Reference>SLC24A5</Reference>
+              </ExternalReference>
+              <ExternalReference id="82688">
+                <Source>HGNC</Source>
+                <Reference>20611</Reference>
+              </ExternalReference>
+              <ExternalReference id="82689">
+                <Source>OMIM</Source>
+                <Reference>609802</Reference>
+              </ExternalReference>
+              <ExternalReference id="84095">
+                <Source>Reactome</Source>
+                <Reference>Q71RS6</Reference>
+              </ExternalReference>
+              <ExternalReference id="82691">
+                <Source>SwissProt</Source>
+                <Reference>Q71RS6</Reference>
+              </ExternalReference>
+              <ExternalReference id="190608">
+                <Source>IUPHAR</Source>
+                <Reference>1049</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60625">
+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22495">
+      <OrphaCode>370396</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370396</ExpertLink>
+      <Name lang="en">Small cell carcinoma of the ovary</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24658002[PMID]_24658004[PMID]_24658001[PMID]</SourceOfValidation>
+          <Gene id="18993">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4</Name>
+            <Symbol>SMARCA4</Symbol>
+            <SynonymList count="17">
+              <Synonym lang="en">ATP-dependent helicase SMARCA4</Synonym>
+              <Synonym lang="en">BAF190</Synonym>
+              <Synonym lang="en">BRG1</Synonym>
+              <Synonym lang="en">BRM/SWI2-related gene 1</Synonym>
+              <Synonym lang="en">FLJ39786</Synonym>
+              <Synonym lang="en">SNF2</Synonym>
+              <Synonym lang="en">SNF2-BETA</Synonym>
+              <Synonym lang="en">SNF2-like 4</Synonym>
+              <Synonym lang="en">SNF2LB</Synonym>
+              <Synonym lang="en">SWI2</Synonym>
+              <Synonym lang="en">brahma protein-like 1</Synonym>
+              <Synonym lang="en">global transcription activator homologous sequence</Synonym>
+              <Synonym lang="en">hSNF2b</Synonym>
+              <Synonym lang="en">homeotic gene regulator</Synonym>
+              <Synonym lang="en">mitotic growth and transcription activator</Synonym>
+              <Synonym lang="en">nuclear protein GRB1</Synonym>
+              <Synonym lang="en">sucrose nonfermenting-like 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60392">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127616</Reference>
+              </ExternalReference>
+              <ExternalReference id="44562">
+                <Source>Genatlas</Source>
+                <Reference>SMARCA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="44563">
+                <Source>HGNC</Source>
+                <Reference>11100</Reference>
+              </ExternalReference>
+              <ExternalReference id="87990">
+                <Source>IUPHAR</Source>
+                <Reference>2740</Reference>
+              </ExternalReference>
+              <ExternalReference id="44564">
+                <Source>OMIM</Source>
+                <Reference>603254</Reference>
+              </ExternalReference>
+              <ExternalReference id="87989">
+                <Source>Reactome</Source>
+                <Reference>P51532</Reference>
+              </ExternalReference>
+              <ExternalReference id="44565">
+                <Source>SwissProt</Source>
+                <Reference>P51532</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26045">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22491">
+      <OrphaCode>370348</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370348</ExpertLink>
+      <Name lang="en">Peripheral primitive neuroectodermal tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7506981[PMID]_8644855[PMID]</SourceOfValidation>
+          <Gene id="16056">
+            <Name lang="en">Fli-1 proto-oncogene, ETS transcription factor</Name>
+            <Symbol>FLI1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EWSR2</Synonym>
+              <Synonym lang="en">SIC-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143831">
+                <Source>Reactome</Source>
+                <Reference>Q01543</Reference>
+              </ExternalReference>
+              <ExternalReference id="58588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
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+              <ExternalReference id="37460">
+                <Source>Genatlas</Source>
+                <Reference>FLI1</Reference>
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+              <ExternalReference id="29498">
+                <Source>HGNC</Source>
+                <Reference>3749</Reference>
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+              <ExternalReference id="29497">
+                <Source>OMIM</Source>
+                <Reference>193067</Reference>
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+              <ExternalReference id="33071">
+                <Source>SwissProt</Source>
+                <Reference>Q01543</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22490">
+      <OrphaCode>370334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370334</ExpertLink>
+      <Name lang="en">Extraskeletal Ewing sarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>11823984[PMID]</SourceOfValidation>
+          <Gene id="15993">
+            <Name lang="en">ETS transcription factor ERG</Name>
+            <Symbol>ERG</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ETS-related gene</Synonym>
+              <Synonym lang="en">TMPRSS2-ERG prostate cancer specific</Synonym>
+              <Synonym lang="en">erg-3</Synonym>
+              <Synonym lang="en">p55</Synonym>
+              <Synonym lang="en">transcriptional regulator ERG (transforming protein ERG)</Synonym>
+              <Synonym lang="en">v-ets erythroblastosis virus E26 oncogene like</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143206">
+                <Source>Reactome</Source>
+                <Reference>P11308</Reference>
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+              <ExternalReference id="58732">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157554</Reference>
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+              <ExternalReference id="37450">
+                <Source>Genatlas</Source>
+                <Reference>ERG</Reference>
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+              <ExternalReference id="29176">
+                <Source>HGNC</Source>
+                <Reference>3446</Reference>
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+              <ExternalReference id="29175">
+                <Source>OMIM</Source>
+                <Reference>165080</Reference>
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+              <ExternalReference id="33007">
+                <Source>SwissProt</Source>
+                <Reference>P11308</Reference>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21113140[PMID]</SourceOfValidation>
+          <Gene id="16003">
+            <Name lang="en">EWS RNA binding protein 1</Name>
+            <Symbol>EWSR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EWS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>Q01844</Reference>
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+              <ExternalReference id="58731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182944</Reference>
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+              <ExternalReference id="37029">
+                <Source>Genatlas</Source>
+                <Reference>EWSR1</Reference>
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+              <ExternalReference id="29221">
+                <Source>HGNC</Source>
+                <Reference>3508</Reference>
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+              <ExternalReference id="29220">
+                <Source>OMIM</Source>
+                <Reference>133450</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01844</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9072004[PMID]_18769338[PMID]_16517542[PMID]_11570916[PMID]</SourceOfValidation>
+          <Gene id="16056">
+            <Name lang="en">Fli-1 proto-oncogene, ETS transcription factor</Name>
+            <Symbol>FLI1</Symbol>
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+              <Synonym lang="en">EWSR2</Synonym>
+              <Synonym lang="en">SIC-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143831">
+                <Source>Reactome</Source>
+                <Reference>Q01543</Reference>
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+              <ExternalReference id="58588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151702</Reference>
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+              <ExternalReference id="37460">
+                <Source>Genatlas</Source>
+                <Reference>FLI1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3749</Reference>
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+              <ExternalReference id="29497">
+                <Source>OMIM</Source>
+                <Reference>193067</Reference>
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+              <ExternalReference id="33071">
+                <Source>SwissProt</Source>
+                <Reference>Q01543</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21113140[PMID]</SourceOfValidation>
+          <Gene id="22572">
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+            <Symbol>SMARCA5</Symbol>
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+              <Synonym lang="en">hISWI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153147</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SMARCA5</Reference>
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+              <ExternalReference id="84464">
+                <Source>HGNC</Source>
+                <Reference>11101</Reference>
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+              <ExternalReference id="84465">
+                <Source>OMIM</Source>
+                <Reference>603375</Reference>
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+              <ExternalReference id="84611">
+                <Source>Reactome</Source>
+                <Reference>O60264</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60264</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101680</Reference>
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+              <ExternalReference id="94508">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="94506">
+                <Source>HGNC</Source>
+                <Reference>6481</Reference>
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+              <ExternalReference id="94507">
+                <Source>OMIM</Source>
+                <Reference>150320</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P25391</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Acute myeloid leukemia with t(8;16)(p11;p13) translocation</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2734</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600140</Reference>
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+              <ExternalReference id="56896">
+                <Source>Reactome</Source>
+                <Reference>Q92793</Reference>
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+              <ExternalReference id="32773">
+                <Source>SwissProt</Source>
+                <Reference>Q92793</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23974201[PMID]_18698081[PMID]</SourceOfValidation>
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+              <Synonym lang="en">Monocytic leukemia zinc finger protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>13013</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601408</Reference>
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+              <ExternalReference id="84598">
+                <Source>Reactome</Source>
+                <Reference>Q92794</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92794</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2665</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Acute infantile liver failure-multisystemic involvement syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">FLJ21788</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133706</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6512</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="84607">
+                <Source>Reactome</Source>
+                <Reference>Q9P2J5</Reference>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">beta-dystroglycan</Synonym>
+              <Synonym lang="en">dystrophin-associated glycoprotein-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173402</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83213">
+                <Source>Reactome</Source>
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+                <Reference>Q14118</Reference>
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+      <Name lang="en">STT3A-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23842455[PMID]</SourceOfValidation>
+          <Gene id="22587">
+            <Name lang="en">STT3 oligosaccharyltransferase complex catalytic subunit A</Name>
+            <Symbol>STT3A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MGC9042</Synonym>
+              <Synonym lang="en">STT3-A</Synonym>
+              <Synonym lang="en">TMC</Synonym>
+              <Synonym lang="en">dolichyl-diphosphooligosaccharide protein glycotransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="85374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134910</Reference>
+              </ExternalReference>
+              <ExternalReference id="84669">
+                <Source>Genatlas</Source>
+                <Reference>STT3A</Reference>
+              </ExternalReference>
+              <ExternalReference id="84668">
+                <Source>HGNC</Source>
+                <Reference>6172</Reference>
+              </ExternalReference>
+              <ExternalReference id="84670">
+                <Source>OMIM</Source>
+                <Reference>601134</Reference>
+              </ExternalReference>
+              <ExternalReference id="85373">
+                <Source>Reactome</Source>
+                <Reference>P46977</Reference>
+              </ExternalReference>
+              <ExternalReference id="84671">
+                <Source>SwissProt</Source>
+                <Reference>P46977</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20925">
+                <GeneLocus>11q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22501">
+      <OrphaCode>370924</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370924</ExpertLink>
+      <Name lang="en">STT3B-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23842455[PMID]</SourceOfValidation>
+          <Gene id="22588">
+            <Name lang="en">STT3 oligosaccharyltransferase complex catalytic subunit B</Name>
+            <Symbol>STT3B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B</Synonym>
+              <Synonym lang="en">FLJ90106</Synonym>
+              <Synonym lang="en">SIMP</Synonym>
+              <Synonym lang="en">STT3-B</Synonym>
+              <Synonym lang="en">dolichyl-diphosphooligosaccharide protein glycotransferase</Synonym>
+              <Synonym lang="en">source of immunodominant MHC associated peptides</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="85375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163527</Reference>
+              </ExternalReference>
+              <ExternalReference id="84677">
+                <Source>Genatlas</Source>
+                <Reference>STT3B</Reference>
+              </ExternalReference>
+              <ExternalReference id="84675">
+                <Source>HGNC</Source>
+                <Reference>30611</Reference>
+              </ExternalReference>
+              <ExternalReference id="84676">
+                <Source>OMIM</Source>
+                <Reference>608605</Reference>
+              </ExternalReference>
+              <ExternalReference id="84678">
+                <Source>SwissProt</Source>
+                <Reference>Q8TCJ2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24349">
+                <GeneLocus>3p23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22502">
+      <OrphaCode>370927</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370927</ExpertLink>
+      <Name lang="en">SSR4-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24218363[PMID]</SourceOfValidation>
+          <Gene id="22581">
+            <Name lang="en">signal sequence receptor subunit 4</Name>
+            <Symbol>SSR4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TRAPD</Synonym>
+              <Synonym lang="en">translocon-associated protein delta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84626">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180879</Reference>
+              </ExternalReference>
+              <ExternalReference id="84519">
+                <Source>Genatlas</Source>
+                <Reference>SSR4</Reference>
+              </ExternalReference>
+              <ExternalReference id="84518">
+                <Source>HGNC</Source>
+                <Reference>11326</Reference>
+              </ExternalReference>
+              <ExternalReference id="84517">
+                <Source>OMIM</Source>
+                <Reference>300090</Reference>
+              </ExternalReference>
+              <ExternalReference id="84625">
+                <Source>Reactome</Source>
+                <Reference>P51571</Reference>
+              </ExternalReference>
+              <ExternalReference id="84520">
+                <Source>SwissProt</Source>
+                <Reference>P51571</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12985">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22503">
+      <OrphaCode>370930</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370930</ExpertLink>
+      <Name lang="en">XYLT1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23982343[PMID]</SourceOfValidation>
+          <Gene id="22574">
+            <Name lang="en">xylosyltransferase 1</Name>
+            <Symbol>XYLT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PXYLT1</Synonym>
+              <Synonym lang="en">XT-I</Synonym>
+              <Synonym lang="en">protein xylosyltransferase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84615">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103489</Reference>
+              </ExternalReference>
+              <ExternalReference id="84484">
+                <Source>Genatlas</Source>
+                <Reference>XYLT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="84482">
+                <Source>HGNC</Source>
+                <Reference>15516</Reference>
+              </ExternalReference>
+              <ExternalReference id="84483">
+                <Source>OMIM</Source>
+                <Reference>608124</Reference>
+              </ExternalReference>
+              <ExternalReference id="84485">
+                <Source>SwissProt</Source>
+                <Reference>Q86Y38</Reference>
+              </ExternalReference>
+              <ExternalReference id="126431">
+                <Source>Reactome</Source>
+                <Reference>Q86Y38</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26845">
+                <GeneLocus>16p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22509">
+      <OrphaCode>370959</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370959</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy with cerebellar involvement</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15121">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)</Name>
+            <Symbol>POMGNT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20277</Synonym>
+              <Synonym lang="en">LGMD2O</Synonym>
+              <Synonym lang="en">MGAT1.2</Synonym>
+              <Synonym lang="en">protein O-mannose beta-1,2-N-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100284">
+                <Source>Reactome</Source>
+                <Reference>Q8WZA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085998</Reference>
+              </ExternalReference>
+              <ExternalReference id="25010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25012">
+                <Source>HGNC</Source>
+                <Reference>19139</Reference>
+              </ExternalReference>
+              <ExternalReference id="25011">
+                <Source>OMIM</Source>
+                <Reference>606822</Reference>
+              </ExternalReference>
+              <ExternalReference id="32812">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZA1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="19143">
+                <GeneLocus>1p34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15122">
+            <Name lang="en">protein O-mannosyltransferase 1</Name>
+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
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+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
+              </ExternalReference>
+              <ExternalReference id="25018">
+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
+              </ExternalReference>
+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
+              </ExternalReference>
+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="25667">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15123">
+            <Name lang="en">protein O-mannosyltransferase 2</Name>
+            <Symbol>POMT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dolichyl-phosphate-mannose--protein mannosyltransferase</Synonym>
+              <Synonym lang="en">LGMD2N</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100286">
+                <Source>Reactome</Source>
+                <Reference>Q9UKY4</Reference>
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+              <ExternalReference id="58897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009830</Reference>
+              </ExternalReference>
+              <ExternalReference id="36782">
+                <Source>Genatlas</Source>
+                <Reference>POMT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25021">
+                <Source>HGNC</Source>
+                <Reference>19743</Reference>
+              </ExternalReference>
+              <ExternalReference id="25020">
+                <Source>OMIM</Source>
+                <Reference>607439</Reference>
+              </ExternalReference>
+              <ExternalReference id="33234">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
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+              <Locus id="21057">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="16053">
+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="29481">
+                <Source>OMIM</Source>
+                <Reference>606596</Reference>
+              </ExternalReference>
+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
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+              <ExternalReference id="58893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
+              </ExternalReference>
+              <ExternalReference id="29484">
+                <Source>Genatlas</Source>
+                <Reference>FKRP</Reference>
+              </ExternalReference>
+              <ExternalReference id="29482">
+                <Source>HGNC</Source>
+                <Reference>17997</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24925318[PMID]</SourceOfValidation>
+          <Gene id="22090">
+            <Name lang="en">protein O-mannose kinase</Name>
+            <Symbol>POMK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ23356</Synonym>
+              <Synonym lang="en">SGK196</Synonym>
+              <Synonym lang="en">SgK196</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83812">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185900</Reference>
+              </ExternalReference>
+              <ExternalReference id="82562">
+                <Source>HGNC</Source>
+                <Reference>26267</Reference>
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+              <ExternalReference id="79288">
+                <Source>OMIM</Source>
+                <Reference>615247</Reference>
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+              <ExternalReference id="79289">
+                <Source>SwissProt</Source>
+                <Reference>Q9H5K3</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H5K3</Reference>
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+              <Locus id="26827">
+                <GeneLocus>8p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768512[PMID]_21397493[PMID]</SourceOfValidation>
+          <Gene id="22266">
+            <Name lang="en">GDP-mannose pyrophosphorylase B</Name>
+            <Symbol>GMPPB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1851</Synonym>
+              <Synonym lang="en">mannose-1-phosphate guanyltransferase beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173540</Reference>
+              </ExternalReference>
+              <ExternalReference id="81240">
+                <Source>Genatlas</Source>
+                <Reference>GMPPB</Reference>
+              </ExternalReference>
+              <ExternalReference id="81238">
+                <Source>HGNC</Source>
+                <Reference>22932</Reference>
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+              <ExternalReference id="81239">
+                <Source>OMIM</Source>
+                <Reference>615320</Reference>
+              </ExternalReference>
+              <ExternalReference id="83960">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5P6</Reference>
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+              <ExternalReference id="81241">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5P6</Reference>
+              </ExternalReference>
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+              <Locus id="12753">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="22510">
+      <OrphaCode>370968</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370968</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy with intellectual disability</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15122">
+            <Name lang="en">protein O-mannosyltransferase 1</Name>
+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
+              </ExternalReference>
+              <ExternalReference id="25018">
+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
+              </ExternalReference>
+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
+              </ExternalReference>
+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25667">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15123">
+            <Name lang="en">protein O-mannosyltransferase 2</Name>
+            <Symbol>POMT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dolichyl-phosphate-mannose--protein mannosyltransferase</Synonym>
+              <Synonym lang="en">LGMD2N</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100286">
+                <Source>Reactome</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009830</Reference>
+              </ExternalReference>
+              <ExternalReference id="36782">
+                <Source>Genatlas</Source>
+                <Reference>POMT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25021">
+                <Source>HGNC</Source>
+                <Reference>19743</Reference>
+              </ExternalReference>
+              <ExternalReference id="25020">
+                <Source>OMIM</Source>
+                <Reference>607439</Reference>
+              </ExternalReference>
+              <ExternalReference id="33234">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21057">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="16053">
+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="29481">
+                <Source>OMIM</Source>
+                <Reference>606596</Reference>
+              </ExternalReference>
+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
+              </ExternalReference>
+              <ExternalReference id="58893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
+              </ExternalReference>
+              <ExternalReference id="29484">
+                <Source>Genatlas</Source>
+                <Reference>FKRP</Reference>
+              </ExternalReference>
+              <ExternalReference id="29482">
+                <Source>HGNC</Source>
+                <Reference>17997</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="16338">
+            <Name lang="en">LARGE xylosyl- and glucuronyltransferase 1</Name>
+            <Symbol>LARGE1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0609</Synonym>
+              <Synonym lang="en">like-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100306">
+                <Source>Reactome</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+              <ExternalReference id="58894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133424</Reference>
+              </ExternalReference>
+              <ExternalReference id="30840">
+                <Source>Genatlas</Source>
+                <Reference>LARGE</Reference>
+              </ExternalReference>
+              <ExternalReference id="30842">
+                <Source>HGNC</Source>
+                <Reference>6511</Reference>
+              </ExternalReference>
+              <ExternalReference id="30841">
+                <Source>OMIM</Source>
+                <Reference>603590</Reference>
+              </ExternalReference>
+              <ExternalReference id="33403">
+                <Source>SwissProt</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19187">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768512[PMID]_21397493[PMID]</SourceOfValidation>
+          <Gene id="22266">
+            <Name lang="en">GDP-mannose pyrophosphorylase B</Name>
+            <Symbol>GMPPB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1851</Synonym>
+              <Synonym lang="en">mannose-1-phosphate guanyltransferase beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173540</Reference>
+              </ExternalReference>
+              <ExternalReference id="81240">
+                <Source>Genatlas</Source>
+                <Reference>GMPPB</Reference>
+              </ExternalReference>
+              <ExternalReference id="81238">
+                <Source>HGNC</Source>
+                <Reference>22932</Reference>
+              </ExternalReference>
+              <ExternalReference id="81239">
+                <Source>OMIM</Source>
+                <Reference>615320</Reference>
+              </ExternalReference>
+              <ExternalReference id="83960">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5P6</Reference>
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+              <ExternalReference id="81241">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5P6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>3p21.31</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22511">
+      <OrphaCode>370980</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370980</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy without intellectual disability</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="15122">
+            <Name lang="en">protein O-mannosyltransferase 1</Name>
+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
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+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
+              </ExternalReference>
+              <ExternalReference id="25018">
+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
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+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
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+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
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+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
+          <Gene id="16037">
+            <Name lang="en">fukutin</Name>
+            <Symbol>FKTN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGMD2M</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57458">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106692</Reference>
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+              <ExternalReference id="37036">
+                <Source>Genatlas</Source>
+                <Reference>FKTN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3622</Reference>
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+              <ExternalReference id="29388">
+                <Source>OMIM</Source>
+                <Reference>607440</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75072</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21397493[PMID]</SourceOfValidation>
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+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
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+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>606596</Reference>
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+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
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+                <Reference>FKRP</Reference>
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+                <Reference>17997</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23288328[PMID]</SourceOfValidation>
+          <Gene id="21160">
+            <Name lang="en">CDP-L-ribitol pyrophosphorylase A</Name>
+            <Symbol>CRPPA</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">D-ribitol-5-phosphate cytidylyltransferase</Synonym>
+              <Synonym lang="en">IspD</Synonym>
+              <Synonym lang="en">Nip</Synonym>
+              <Synonym lang="en">Notch1-induced protein</Synonym>
+              <Synonym lang="en">hCG_1745121</Synonym>
+              <Synonym lang="en">notch1-induced protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>A4D126</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214960</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ISPD</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">GM3 synthase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ST3 beta-galactoside alpha-2,3-sialyltransferase 5</Name>
+            <Symbol>ST3GAL5</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'lactosylceramide alpha-2,3-sialyltransferase'</Synonym>
+              <Synonym lang="en">SIATGM3S</Synonym>
+              <Synonym lang="en">ST3GalV</Synonym>
+              <Synonym lang="en">ganglioside GM3 synthase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115525</Reference>
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+              <ExternalReference id="41343">
+                <Source>Genatlas</Source>
+                <Reference>ST3GAL5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10872</Reference>
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+                <Reference>604402</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autism spectrum disorder-epilepsy-arthrogryposis syndrome</Name>
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+            <Name lang="en">solute carrier family 35 member A3</Name>
+            <Symbol>SLC35A3</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117620</Reference>
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+                <Reference>605632</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2D2</Reference>
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+                <Reference>Q9Y2D2</Reference>
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+      <Name lang="en">Primary hyperaldosteronism-seizures-neurological abnormalities syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="21881">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 D</Name>
+            <Symbol>CACNA1D</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CACH3</Synonym>
+              <Synonym lang="en">CACN4</Synonym>
+              <Synonym lang="en">Cav1.3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83686">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157388</Reference>
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+              <ExternalReference id="77471">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1D</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=370002</ExpertLink>
+      <Name lang="en">Focal palmoplantar keratoderma with joint keratoses</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16484817[PMID]</SourceOfValidation>
+          <Gene id="15893">
+            <Name lang="en">desmoglein 1</Name>
+            <Symbol>DSG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59096">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134760</Reference>
+              </ExternalReference>
+              <ExternalReference id="36986">
+                <Source>Genatlas</Source>
+                <Reference>DSG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28685">
+                <Source>HGNC</Source>
+                <Reference>3048</Reference>
+              </ExternalReference>
+              <ExternalReference id="28684">
+                <Source>OMIM</Source>
+                <Reference>125670</Reference>
+              </ExternalReference>
+              <ExternalReference id="59097">
+                <Source>Reactome</Source>
+                <Reference>Q02413</Reference>
+              </ExternalReference>
+              <ExternalReference id="32904">
+                <Source>SwissProt</Source>
+                <Reference>Q02413</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8251">
+                <GeneLocus>18q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22460">
+      <OrphaCode>369999</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=369999</ExpertLink>
+      <Name lang="en">Diffuse palmoplantar keratoderma with painful fissures</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15897387[PMID]</SourceOfValidation>
+          <Gene id="15893">
+            <Name lang="en">desmoglein 1</Name>
+            <Symbol>DSG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59096">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134760</Reference>
+              </ExternalReference>
+              <ExternalReference id="36986">
+                <Source>Genatlas</Source>
+                <Reference>DSG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28685">
+                <Source>HGNC</Source>
+                <Reference>3048</Reference>
+              </ExternalReference>
+              <ExternalReference id="28684">
+                <Source>OMIM</Source>
+                <Reference>125670</Reference>
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+              <ExternalReference id="59097">
+                <Source>Reactome</Source>
+                <Reference>Q02413</Reference>
+              </ExternalReference>
+              <ExternalReference id="32904">
+                <Source>SwissProt</Source>
+                <Reference>Q02413</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8251">
+                <GeneLocus>18q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22433">
+      <OrphaCode>369837</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=369837</ExpertLink>
+      <Name lang="en">Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23636107[PMID]</SourceOfValidation>
+          <Gene id="22537">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class T</Name>
+            <Symbol>PIGT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GPI transamidase subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84094">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124155</Reference>
+              </ExternalReference>
+              <ExternalReference id="82555">
+                <Source>Genatlas</Source>
+                <Reference>PIGT</Reference>
+              </ExternalReference>
+              <ExternalReference id="82553">
+                <Source>HGNC</Source>
+                <Reference>14938</Reference>
+              </ExternalReference>
+              <ExternalReference id="82554">
+                <Source>OMIM</Source>
+                <Reference>610272</Reference>
+              </ExternalReference>
+              <ExternalReference id="84093">
+                <Source>Reactome</Source>
+                <Reference>Q969N2</Reference>
+              </ExternalReference>
+              <ExternalReference id="82556">
+                <Source>SwissProt</Source>
+                <Reference>Q969N2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="14883">
+                <GeneLocus>20q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22434">
+      <OrphaCode>369840</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=369840</ExpertLink>
+      <Name lang="en">TRAPPC11-related limb-girdle muscular dystrophy R18</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23830518[PMID]</SourceOfValidation>
+          <Gene id="22554">
+            <Name lang="en">trafficking protein particle complex subunit 11</Name>
+            <Symbol>TRAPPC11</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ12716</Synonym>
+              <Synonym lang="en">foie gras homolog (zebrafish)</Synonym>
+              <Synonym lang="en">foigr</Synonym>
+              <Synonym lang="en">gry</Synonym>
+              <Synonym lang="en">gryzun homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168538</Reference>
+              </ExternalReference>
+              <ExternalReference id="84105">
+                <Source>Genatlas</Source>
+                <Reference>TRAPPC11</Reference>
+              </ExternalReference>
+              <ExternalReference id="84103">
+                <Source>HGNC</Source>
+                <Reference>25751</Reference>
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+              <ExternalReference id="84104">
+                <Source>OMIM</Source>
+                <Reference>614138</Reference>
+              </ExternalReference>
+              <ExternalReference id="84106">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z392</Reference>
+              </ExternalReference>
+              <ExternalReference id="126430">
+                <Source>Reactome</Source>
+                <Reference>Q7Z392</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22435">
+      <OrphaCode>369847</OrphaCode>
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+      <Name lang="en">Intellectual disability-hyperkinetic movement-truncal ataxia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23830518[PMID]</SourceOfValidation>
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+            <Name lang="en">trafficking protein particle complex subunit 11</Name>
+            <Symbol>TRAPPC11</Symbol>
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+              <Synonym lang="en">foie gras homolog (zebrafish)</Synonym>
+              <Synonym lang="en">foigr</Synonym>
+              <Synonym lang="en">gry</Synonym>
+              <Synonym lang="en">gryzun homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168538</Reference>
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+              <ExternalReference id="84105">
+                <Source>Genatlas</Source>
+                <Reference>TRAPPC11</Reference>
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+              <ExternalReference id="84103">
+                <Source>HGNC</Source>
+                <Reference>25751</Reference>
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+              <ExternalReference id="84104">
+                <Source>OMIM</Source>
+                <Reference>614138</Reference>
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+              <ExternalReference id="84106">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z392</Reference>
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+              <ExternalReference id="126430">
+                <Source>Reactome</Source>
+                <Reference>Q7Z392</Reference>
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+    <Disorder id="22437">
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+      <Name lang="en">Congenital neutropenia-myelofibrosis-nephromegaly syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23738510[PMID]</SourceOfValidation>
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+            <Name lang="en">vacuolar protein sorting 45 homolog</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84587">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136631</Reference>
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+              <ExternalReference id="84112">
+                <Source>Genatlas</Source>
+                <Reference>VPS45</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14579</Reference>
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+              <ExternalReference id="84111">
+                <Source>OMIM</Source>
+                <Reference>610035</Reference>
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+              <ExternalReference id="84586">
+                <Source>Reactome</Source>
+                <Reference>Q9NRW7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NRW7</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">rabenosyn, RAB effector</Name>
+            <Symbol>RBSN</Symbol>
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+                <Source>Reactome</Source>
+                <Reference>Q9H1K0</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20759</Reference>
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+              <ExternalReference id="159499">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131381</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H1K0</Reference>
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+                <Source>OMIM</Source>
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+                <Reference>RBSN</Reference>
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+    <Disorder id="22438">
+      <OrphaCode>369861</OrphaCode>
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+      <Name lang="en">Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</Name>
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+            <Symbol>TRNT1</Symbol>
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+              <Synonym lang="en">ATP(CTP):tRNA nucleotidyltransferase</Synonym>
+              <Synonym lang="en">CCA-adding enzyme</Synonym>
+              <Synonym lang="en">CCA1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072756</Reference>
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+                <Reference>17341</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612907</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96Q11</Reference>
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+                <Reference>Q96Q11</Reference>
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+      <Name lang="en">Autosomal recessive intermediate Charcot-Marie-Tooth disease type C</Name>
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+            <Name lang="en">pleckstrin homology and RhoGEF domain containing G5</Name>
+            <Symbol>PLEKHG5</Symbol>
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+              <Synonym lang="en">Syx</Synonym>
+              <Synonym lang="en">Tech</Synonym>
+              <Synonym lang="en">synectin-binding guanine exchange factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171680</Reference>
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+              <ExternalReference id="39118">
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+                <Reference>PLEKHG5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29105</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611101</Reference>
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+                <Source>Reactome</Source>
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+      <OrphaCode>369873</OrphaCode>
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+      <Name lang="en">Obesity due to SIM1 deficiency</Name>
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+          <SourceOfValidation>23778136[PMID]_23778139[PMID]</SourceOfValidation>
+          <Gene id="17202">
+            <Name lang="en">SIM bHLH transcription factor 1</Name>
+            <Symbol>SIM1</Symbol>
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+              <Synonym lang="en">bHLHe14</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112246</Reference>
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+              <ExternalReference id="36288">
+                <Source>Genatlas</Source>
+                <Reference>SIM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10882</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603128</Reference>
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+              <ExternalReference id="36290">
+                <Source>SwissProt</Source>
+                <Reference>P81133</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22441">
+      <OrphaCode>369881</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=369881</ExpertLink>
+      <Name lang="en">2p21 microdeletion syndrome without cystinuria</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23794250[PMID]</SourceOfValidation>
+          <Gene id="17586">
+            <Name lang="en">prolyl endopeptidase like</Name>
+            <Symbol>PREPL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0436</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190345">
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+              <ExternalReference id="60110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138078</Reference>
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+              <ExternalReference id="38669">
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+                <Source>HGNC</Source>
+                <Reference>30228</Reference>
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+                <Reference>609557</Reference>
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+              <ExternalReference id="38672">
+                <Source>SwissProt</Source>
+                <Reference>Q4J6C6</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23794250[PMID]</SourceOfValidation>
+          <Gene id="19495">
+            <Name lang="en">calmodulin-lysine N-methyltransferase</Name>
+            <Symbol>CAMKMT</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLNMT</Synonym>
+              <Synonym lang="en">CaM KMT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143919</Reference>
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+              <ExternalReference id="49552">
+                <Source>Genatlas</Source>
+                <Reference>C2orf34</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26276</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609559</Reference>
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+              <ExternalReference id="98087">
+                <Source>Reactome</Source>
+                <Reference>Q7Z624</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22443">
+      <OrphaCode>369891</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=369891</ExpertLink>
+      <Name lang="en">Developmental delay-facial dysmorphism syndrome due to MED13L deficiency</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23403903[PMID]_25712080[PMID]</SourceOfValidation>
+          <Gene id="17336">
+            <Name lang="en">mediator complex subunit 13L</Name>
+            <Symbol>MED13L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1025</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123066</Reference>
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+              <ExternalReference id="36876">
+                <Source>Genatlas</Source>
+                <Reference>MED13L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>22962</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q71F56</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="22445">
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+      <Name lang="en">Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">F-box and leucine rich repeat protein 4</Name>
+            <Symbol>FBXL4</Symbol>
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+              <Synonym lang="en">FBL4</Synonym>
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+            <GeneType id="25993">
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112234</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UKA2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 17</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">elaC ribonuclease Z 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BQ52</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006744</Reference>
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+      <Name lang="en">Infantile epileptic-dyskinetic encephalopathy</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22363">
+      <OrphaCode>364043</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=364043</ExpertLink>
+      <Name lang="en">ALK-positive large B-cell lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17442">
+            <Name lang="en">ALK receptor tyrosine kinase</Name>
+            <Symbol>ALK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD246</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143296">
+                <Source>Reactome</Source>
+                <Reference>Q9UM73</Reference>
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+              <ExternalReference id="57371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171094</Reference>
+              </ExternalReference>
+              <ExternalReference id="37978">
+                <Source>Genatlas</Source>
+                <Reference>ALK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>427</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1839</Reference>
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+              <ExternalReference id="37981">
+                <Source>OMIM</Source>
+                <Reference>105590</Reference>
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+              <ExternalReference id="37980">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM73</Reference>
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+                <GeneLocus>2p23.2-p23.1</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22360">
+      <OrphaCode>364028</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=364028</ExpertLink>
+      <Name lang="en">X-linked intellectual disability due to GRIA3 mutations</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17989220[PMID]</SourceOfValidation>
+          <Gene id="16167">
+            <Name lang="en">glutamate ionotropic receptor AMPA type subunit 3</Name>
+            <Symbol>GRIA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GLURC</Synonym>
+              <Synonym lang="en">GluA3</Synonym>
+              <Synonym lang="en">MRX94</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125675</Reference>
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+              <ExternalReference id="37473">
+                <Source>Genatlas</Source>
+                <Reference>GRIA3</Reference>
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+              <ExternalReference id="30033">
+                <Source>HGNC</Source>
+                <Reference>4573</Reference>
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+              <ExternalReference id="82939">
+                <Source>IUPHAR</Source>
+                <Reference>446</Reference>
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+                <Source>OMIM</Source>
+                <Reference>305915</Reference>
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+              <ExternalReference id="58455">
+                <Source>Reactome</Source>
+                <Reference>P42263</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42263</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="5016">
+      <OrphaCode>772</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=772</ExpertLink>
+      <Name lang="en">Infantile Refsum disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15175">
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+            <Symbol>PEX2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">PAF-1</Synonym>
+              <Synonym lang="en">PMP35</Synonym>
+              <Synonym lang="en">RNF72</Synonym>
+              <Synonym lang="en">ZWS3</Synonym>
+              <Synonym lang="en">Zellweger syndrome</Synonym>
+              <Synonym lang="en">peroxin 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143032">
+                <Source>Reactome</Source>
+                <Reference>P28328</Reference>
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+              <ExternalReference id="57017">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164751</Reference>
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+              <ExternalReference id="25266">
+                <Source>Genatlas</Source>
+                <Reference>PXMP3</Reference>
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+              <ExternalReference id="25268">
+                <Source>HGNC</Source>
+                <Reference>9717</Reference>
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+                <Source>OMIM</Source>
+                <Reference>170993</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P28328</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16637">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127980</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8850</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16638">
+            <Name lang="en">peroxisomal biogenesis factor 10</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="57023">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157911</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+          <SourceOfValidation/>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162928</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16646">
+            <Name lang="en">peroxisomal biogenesis factor 5</Name>
+            <Symbol>PEX5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PTS1R</Synonym>
+              <Synonym lang="en">peroxisomal import receptor 5</Synonym>
+              <Synonym lang="en">peroxisomal targeting signal 1 receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P50542</Reference>
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+              <ExternalReference id="57020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139197</Reference>
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+              <ExternalReference id="32280">
+                <Source>Genatlas</Source>
+                <Reference>PEX5</Reference>
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+              <ExternalReference id="32278">
+                <Source>HGNC</Source>
+                <Reference>9719</Reference>
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+              <ExternalReference id="32277">
+                <Source>OMIM</Source>
+                <Reference>600414</Reference>
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+              <ExternalReference id="33750">
+                <Source>SwissProt</Source>
+                <Reference>P50542</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16647">
+            <Name lang="en">peroxisomal biogenesis factor 6</Name>
+            <Symbol>PEX6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PAF-2</Synonym>
+              <Synonym lang="en">PXAAA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57021">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124587</Reference>
+              </ExternalReference>
+              <ExternalReference id="32282">
+                <Source>Genatlas</Source>
+                <Reference>PEX6</Reference>
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+              <ExternalReference id="32284">
+                <Source>HGNC</Source>
+                <Reference>8859</Reference>
+              </ExternalReference>
+              <ExternalReference id="32283">
+                <Source>OMIM</Source>
+                <Reference>601498</Reference>
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+              <ExternalReference id="33751">
+                <Source>SwissProt</Source>
+                <Reference>Q13608</Reference>
+              </ExternalReference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21571">
+            <Name lang="en">peroxisomal biogenesis factor 11 beta</Name>
+            <Symbol>PEX11B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142916">
+                <Source>Reactome</Source>
+                <Reference>O96011</Reference>
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+              <ExternalReference id="83540">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131779</Reference>
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+              <ExternalReference id="74729">
+                <Source>Genatlas</Source>
+                <Reference>PEX11B</Reference>
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+              <ExternalReference id="74727">
+                <Source>HGNC</Source>
+                <Reference>8853</Reference>
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+              <ExternalReference id="74728">
+                <Source>OMIM</Source>
+                <Reference>603867</Reference>
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+              <ExternalReference id="74730">
+                <Source>SwissProt</Source>
+                <Reference>O96011</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="5015">
+      <OrphaCode>1194</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=1194</ExpertLink>
+      <Name lang="en">TMEM70-related mitochondrial encephalo-cardio-myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21147908[PMID]</SourceOfValidation>
+          <Gene id="17847">
+            <Name lang="en">transmembrane protein 70</Name>
+            <Symbol>TMEM70</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20533</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58746">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175606</Reference>
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+              <ExternalReference id="40070">
+                <Source>Genatlas</Source>
+                <Reference>TMEM70</Reference>
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+              <ExternalReference id="39862">
+                <Source>HGNC</Source>
+                <Reference>26050</Reference>
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+              <ExternalReference id="40069">
+                <Source>OMIM</Source>
+                <Reference>612418</Reference>
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+              <ExternalReference id="39864">
+                <Source>SwissProt</Source>
+                <Reference>Q9BUB7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Non-immune hydrops fetalis</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34876502[PMID]</SourceOfValidation>
+          <Gene id="29031">
+            <Name lang="en">angiopoietin 2</Name>
+            <Symbol>ANGPT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Ang2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="180875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091879</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15123</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15123</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>5316</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601922</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30055085[PMID]</SourceOfValidation>
+          <Gene id="27768">
+            <Name lang="en">thrombospondin type 1 domain containing 1</Name>
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+              <Synonym lang="en">TMTSP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>17754</Reference>
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+              <ExternalReference id="161504">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136114</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NS62</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NS62</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22356">
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+      <Name lang="en">Familial benign flecked retina</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22137173[PMID]</SourceOfValidation>
+          <Gene id="20691">
+            <Name lang="en">phospholipase A2 group V</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P39877</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127472</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PLA2G5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9038</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Ichthyosis-short stature-brachydactyly-microspherophakia syndrome</Name>
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+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 17</Name>
+            <Symbol>ADAMTS17</Symbol>
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+              <Synonym lang="en">FLJ16363</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140470</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ADAMTS17</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TE56</Reference>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">ceramide synthase 3</Name>
+            <Symbol>CERS3</Symbol>
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+              <Synonym lang="en">MGC27091</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154227</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 4B3</Name>
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+            <Name lang="en">SET binding factor 1</Name>
+            <Symbol>SBF1</Symbol>
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+              <Synonym lang="en">DENN/MADD domain containing 7A</Synonym>
+              <Synonym lang="en">DENND7A</Synonym>
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+              <Synonym lang="en">myotubularin related 5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100241</Reference>
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+                <Reference>O95248</Reference>
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+      <Name lang="en">Autosomal recessive cerebral atrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transmembrane serine protease 4</Name>
+            <Symbol>TMPRSS4</Symbol>
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+              <Synonym lang="en">MT-SP2</Synonym>
+              <Synonym lang="en">Membrane-type serine protease 2</Synonym>
+              <Synonym lang="en">TMPRSS3</Synonym>
+              <Synonym lang="en">Transmembrane serine protease 3</Synonym>
+              <Synonym lang="en">Type II membrane serine protease</Synonym>
+              <Synonym lang="en">channel-activating serine protease 2</Synonym>
+              <Synonym lang="en">membrane-type serine protease 2</Synonym>
+              <Synonym lang="en">transmembrane serine protease 3</Synonym>
+              <Synonym lang="en">type II membrane serine protease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83997">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137648</Reference>
+              </ExternalReference>
+              <ExternalReference id="81725">
+                <Source>Genatlas</Source>
+                <Reference>TMPRSS4</Reference>
+              </ExternalReference>
+              <ExternalReference id="81723">
+                <Source>HGNC</Source>
+                <Reference>11878</Reference>
+              </ExternalReference>
+              <ExternalReference id="81724">
+                <Source>OMIM</Source>
+                <Reference>606565</Reference>
+              </ExternalReference>
+              <ExternalReference id="81726">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRS4</Reference>
+              </ExternalReference>
+              <ExternalReference id="143538">
+                <Source>Reactome</Source>
+                <Reference>Q9NRS4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38773">
+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22353">
+      <OrphaCode>363972</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363972</ExpertLink>
+      <Name lang="en">Noonan syndrome-like disorder with juvenile myelomonocytic leukemia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20543203[PMID]_20619386[PMID]</SourceOfValidation>
+          <Gene id="19464">
+            <Name lang="en">Cbl proto-oncogene</Name>
+            <Symbol>CBL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RNF55</Synonym>
+              <Synonym lang="en">c-Cbl</Synonym>
+              <Synonym lang="en">oncogene CBL2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56968">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110395</Reference>
+              </ExternalReference>
+              <ExternalReference id="48375">
+                <Source>Genatlas</Source>
+                <Reference>CBL</Reference>
+              </ExternalReference>
+              <ExternalReference id="48376">
+                <Source>HGNC</Source>
+                <Reference>1541</Reference>
+              </ExternalReference>
+              <ExternalReference id="48377">
+                <Source>OMIM</Source>
+                <Reference>165360</Reference>
+              </ExternalReference>
+              <ExternalReference id="56969">
+                <Source>Reactome</Source>
+                <Reference>P22681</Reference>
+              </ExternalReference>
+              <ExternalReference id="48378">
+                <Source>SwissProt</Source>
+                <Reference>P22681</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22351">
+      <OrphaCode>363965</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363965</ExpertLink>
+      <Name lang="en">Koolen-De Vries syndrome due to a point mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22544363[PMID]_22544367[PMID]_20301783[PMID]</SourceOfValidation>
+          <Gene id="21173">
+            <Name lang="en">KAT8 regulatory NSL complex subunit 1</Name>
+            <Symbol>KANSL1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CENP-36</Synonym>
+              <Synonym lang="en">Centromere protein 36</Synonym>
+              <Synonym lang="en">DKFZP727C091</Synonym>
+              <Synonym lang="en">MSL1v1</Synonym>
+              <Synonym lang="en">NSL1</Synonym>
+              <Synonym lang="en">centromere protein 36</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="69705">
+                <Source>OMIM</Source>
+                <Reference>612452</Reference>
+              </ExternalReference>
+              <ExternalReference id="84580">
+                <Source>Reactome</Source>
+                <Reference>Q7Z3B3</Reference>
+              </ExternalReference>
+              <ExternalReference id="69707">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3B3</Reference>
+              </ExternalReference>
+              <ExternalReference id="83401">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120071</Reference>
+              </ExternalReference>
+              <ExternalReference id="69706">
+                <Source>Genatlas</Source>
+                <Reference>KANSL1</Reference>
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+              <ExternalReference id="69704">
+                <Source>HGNC</Source>
+                <Reference>24565</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11997">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22350">
+      <OrphaCode>363958</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363958</ExpertLink>
+      <Name lang="en">17q21.31 microdeletion syndrome</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19447831[PMID]</SourceOfValidation>
+          <Gene id="21173">
+            <Name lang="en">KAT8 regulatory NSL complex subunit 1</Name>
+            <Symbol>KANSL1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CENP-36</Synonym>
+              <Synonym lang="en">Centromere protein 36</Synonym>
+              <Synonym lang="en">DKFZP727C091</Synonym>
+              <Synonym lang="en">MSL1v1</Synonym>
+              <Synonym lang="en">NSL1</Synonym>
+              <Synonym lang="en">centromere protein 36</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="69705">
+                <Source>OMIM</Source>
+                <Reference>612452</Reference>
+              </ExternalReference>
+              <ExternalReference id="84580">
+                <Source>Reactome</Source>
+                <Reference>Q7Z3B3</Reference>
+              </ExternalReference>
+              <ExternalReference id="69707">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3B3</Reference>
+              </ExternalReference>
+              <ExternalReference id="83401">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120071</Reference>
+              </ExternalReference>
+              <ExternalReference id="69706">
+                <Source>Genatlas</Source>
+                <Reference>KANSL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="69704">
+                <Source>HGNC</Source>
+                <Reference>24565</Reference>
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+            <LocusList count="1">
+              <Locus id="11997">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22346">
+      <OrphaCode>363727</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363727</ExpertLink>
+      <Name lang="en">X-linked dyserythropoietic anemia with abnormal platelets and neutropenia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16783379[PMID]</SourceOfValidation>
+          <Gene id="16102">
+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ERYF1</Synonym>
+              <Synonym lang="en">GATA-1</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">NFE1</Synonym>
+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59199">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102145</Reference>
+              </ExternalReference>
+              <ExternalReference id="29714">
+                <Source>Genatlas</Source>
+                <Reference>GATA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29716">
+                <Source>HGNC</Source>
+                <Reference>4170</Reference>
+              </ExternalReference>
+              <ExternalReference id="29715">
+                <Source>OMIM</Source>
+                <Reference>305371</Reference>
+              </ExternalReference>
+              <ExternalReference id="59200">
+                <Source>Reactome</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
+              <ExternalReference id="33117">
+                <Source>SwissProt</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8645">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22345">
+      <OrphaCode>363722</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363722</ExpertLink>
+      <Name lang="en">Alexander disease type II</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301351[PMID]</SourceOfValidation>
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+            <Name lang="en">glial fibrillary acidic protein</Name>
+            <Symbol>GFAP</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ45472</Synonym>
+              <Synonym lang="en">intermediate filament protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56676">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131095</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>GFAP</Reference>
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+              <ExternalReference id="29789">
+                <Source>HGNC</Source>
+                <Reference>4235</Reference>
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+              <ExternalReference id="29788">
+                <Source>OMIM</Source>
+                <Reference>137780</Reference>
+              </ExternalReference>
+              <ExternalReference id="56677">
+                <Source>Reactome</Source>
+                <Reference>P14136</Reference>
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+              <ExternalReference id="33132">
+                <Source>SwissProt</Source>
+                <Reference>P14136</Reference>
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+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22344">
+      <OrphaCode>363717</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363717</ExpertLink>
+      <Name lang="en">Alexander disease type I</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301351[PMID]</SourceOfValidation>
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+            <Name lang="en">glial fibrillary acidic protein</Name>
+            <Symbol>GFAP</Symbol>
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+              <Synonym lang="en">FLJ45472</Synonym>
+              <Synonym lang="en">intermediate filament protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56676">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131095</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GFAP</Reference>
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+              <ExternalReference id="29789">
+                <Source>HGNC</Source>
+                <Reference>4235</Reference>
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+              <ExternalReference id="29788">
+                <Source>OMIM</Source>
+                <Reference>137780</Reference>
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+              <ExternalReference id="56677">
+                <Source>Reactome</Source>
+                <Reference>P14136</Reference>
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+              <ExternalReference id="33132">
+                <Source>SwissProt</Source>
+                <Reference>P14136</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22343">
+      <OrphaCode>363710</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363710</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 37</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28686858</SourceOfValidation>
+          <Gene id="25485">
+            <Name lang="en">DAB adaptor protein 1</Name>
+            <Symbol>DAB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>2661</Reference>
+              </ExternalReference>
+              <ExternalReference id="144598">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173406</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>O75553</Reference>
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+              <ExternalReference id="144600">
+                <Source>OMIM</Source>
+                <Reference>603448</Reference>
+              </ExternalReference>
+              <ExternalReference id="144601">
+                <Source>Genatlas</Source>
+                <Reference>DAB1</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>O75553</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23700170[PMID]</SourceOfValidation>
+          <Gene id="22406">
+            <Name lang="en">spinocerebellar ataxia 37</Name>
+            <Symbol>SCA37</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
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+                <Source>HGNC</Source>
+                <Reference>43726</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>363700</OrphaCode>
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+      <Name lang="en">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301288[PMID]</SourceOfValidation>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196712</Reference>
+              </ExternalReference>
+              <ExternalReference id="31785">
+                <Source>Genatlas</Source>
+                <Reference>NF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31787">
+                <Source>HGNC</Source>
+                <Reference>7765</Reference>
+              </ExternalReference>
+              <ExternalReference id="46529">
+                <Source>OMIM</Source>
+                <Reference>613113</Reference>
+              </ExternalReference>
+              <ExternalReference id="97239">
+                <Source>Reactome</Source>
+                <Reference>P21359</Reference>
+              </ExternalReference>
+              <ExternalReference id="33607">
+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
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+      <OrphaCode>363694</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363694</ExpertLink>
+      <Name lang="en">Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21255763[PMID]</SourceOfValidation>
+          <Gene id="22404">
+            <Name lang="en">seryl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>SARS2</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FLJ20450</Synonym>
+              <Synonym lang="en">SARS</Synonym>
+              <Synonym lang="en">SERS</Synonym>
+              <Synonym lang="en">SYS</Synonym>
+              <Synonym lang="en">SerRSmt</Synonym>
+              <Synonym lang="en">mtSerRS</Synonym>
+              <Synonym lang="en">serine tRNA ligase 2, mitochondrial</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84024">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104835</Reference>
+              </ExternalReference>
+              <ExternalReference id="81850">
+                <Source>Genatlas</Source>
+                <Reference>SARS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="81848">
+                <Source>HGNC</Source>
+                <Reference>17697</Reference>
+              </ExternalReference>
+              <ExternalReference id="81849">
+                <Source>OMIM</Source>
+                <Reference>612804</Reference>
+              </ExternalReference>
+              <ExternalReference id="84023">
+                <Source>Reactome</Source>
+                <Reference>Q9NP81</Reference>
+              </ExternalReference>
+              <ExternalReference id="81851">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP81</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12835">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22339">
+      <OrphaCode>363686</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363686</ExpertLink>
+      <Name lang="en">Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23644463[PMID]</SourceOfValidation>
+          <Gene id="21614">
+            <Name lang="en">GATA zinc finger domain containing 2B</Name>
+            <Symbol>GATAD2B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">P66beta</Synonym>
+              <Synonym lang="en">Transcription repressor p66 beta component of the MeCP1 complex</Synonym>
+              <Synonym lang="en">transcription repressor p66 beta component of the MeCP1 complex</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83591">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143614</Reference>
+              </ExternalReference>
+              <ExternalReference id="75297">
+                <Source>Genatlas</Source>
+                <Reference>GATAD2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="75295">
+                <Source>HGNC</Source>
+                <Reference>30778</Reference>
+              </ExternalReference>
+              <ExternalReference id="75296">
+                <Source>OMIM</Source>
+                <Reference>614998</Reference>
+              </ExternalReference>
+              <ExternalReference id="91598">
+                <Source>Reactome</Source>
+                <Reference>Q8WXI9</Reference>
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+              <ExternalReference id="75298">
+                <Source>SwissProt</Source>
+                <Reference>Q8WXI9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22337">
+      <OrphaCode>363677</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363677</ExpertLink>
+      <Name lang="en">Childhood-onset autosomal recessive myopathy with external ophthalmoplegia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23388406[PMID]</SourceOfValidation>
+          <Gene id="16498">
+            <Name lang="en">myosin heavy chain 2</Name>
+            <Symbol>MYH2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MYH2A</Synonym>
+              <Synonym lang="en">MYHSA2</Synonym>
+              <Synonym lang="en">MYHas8</Synonym>
+              <Synonym lang="en">MyHC-2A</Synonym>
+              <Synonym lang="en">MyHC-IIa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59277">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125414</Reference>
+              </ExternalReference>
+              <ExternalReference id="31576">
+                <Source>Genatlas</Source>
+                <Reference>MYH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="34012">
+                <Source>HGNC</Source>
+                <Reference>7572</Reference>
+              </ExternalReference>
+              <ExternalReference id="31577">
+                <Source>OMIM</Source>
+                <Reference>160740</Reference>
+              </ExternalReference>
+              <ExternalReference id="83006">
+                <Source>Reactome</Source>
+                <Reference>Q9UKX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="33563">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKX2</Reference>
+              </ExternalReference>
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+              <Locus id="9377">
+                <GeneLocus>17p13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22298">
+      <OrphaCode>363417</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363417</ExpertLink>
+      <Name lang="en">Temtamy preaxial brachydactyly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21129728[PMID]</SourceOfValidation>
+          <Gene id="22395">
+            <Name lang="en">chondroitin sulfate synthase 1</Name>
+            <Symbol>CHSY1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CSS1</Synonym>
+              <Synonym lang="en">KIAA0990</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84010">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131873</Reference>
+              </ExternalReference>
+              <ExternalReference id="81777">
+                <Source>Genatlas</Source>
+                <Reference>CHSY1</Reference>
+              </ExternalReference>
+              <ExternalReference id="81775">
+                <Source>HGNC</Source>
+                <Reference>17198</Reference>
+              </ExternalReference>
+              <ExternalReference id="81776">
+                <Source>OMIM</Source>
+                <Reference>608183</Reference>
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+              <ExternalReference id="84009">
+                <Source>Reactome</Source>
+                <Reference>Q86X52</Reference>
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+              <ExternalReference id="81778">
+                <Source>SwissProt</Source>
+                <Reference>Q86X52</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="12817">
+                <GeneLocus>15q26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22296">
+      <OrphaCode>363409</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363409</ExpertLink>
+      <Name lang="en">Fetal akinesia-cerebral and retinal hemorrhage syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23092955[PMID]</SourceOfValidation>
+          <Gene id="15882">
+            <Name lang="en">dynamin 2</Name>
+            <Symbol>DNM2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CMT2M</Synonym>
+              <Synonym lang="en">CMTDI1</Synonym>
+              <Synonym lang="en">CMTDIB</Synonym>
+              <Synonym lang="en">DI-CMTB</Synonym>
+              <Synonym lang="en">DYN2</Synonym>
+              <Synonym lang="en">DYNII</Synonym>
+              <Synonym lang="en">cytoskeletal protein</Synonym>
+              <Synonym lang="en">dynamin II</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59981">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079805</Reference>
+              </ExternalReference>
+              <ExternalReference id="28636">
+                <Source>Genatlas</Source>
+                <Reference>DNM2</Reference>
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+              <ExternalReference id="28634">
+                <Source>HGNC</Source>
+                <Reference>2974</Reference>
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+              <ExternalReference id="28633">
+                <Source>OMIM</Source>
+                <Reference>602378</Reference>
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+              <ExternalReference id="59982">
+                <Source>Reactome</Source>
+                <Reference>P50570</Reference>
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+              <ExternalReference id="32893">
+                <Source>SwissProt</Source>
+                <Reference>P50570</Reference>
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+              <Locus id="18679">
+                <GeneLocus>19p13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22297">
+      <OrphaCode>363412</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363412</ExpertLink>
+      <Name lang="en">Hypomyelination with brain stem and spinal cord involvement and leg spasticity</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23643384[PMID]</SourceOfValidation>
+          <Gene id="22394">
+            <Name lang="en">aspartyl-tRNA synthetase 1</Name>
+            <Symbol>DARS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">aspartate tRNA ligase 1, cytoplasmic</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84008">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115866</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2678</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603084</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P14868</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P14868</Reference>
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+                <GeneLocus>2q21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="22303">
+      <OrphaCode>363432</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363432</ExpertLink>
+      <Name lang="en">Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23611888[PMID]</SourceOfValidation>
+          <Gene id="22396">
+            <Name lang="en">glutamate ionotropic receptor delta type subunit 2</Name>
+            <Symbol>GRID2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GluD2</Synonym>
+              <Synonym lang="en">GluR-delta-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152208</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GRID2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4576</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>449</Reference>
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+                <Reference>602368</Reference>
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+                <Source>SwissProt</Source>
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+    <Disorder id="22301">
+      <OrphaCode>363424</OrphaCode>
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+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 3</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">iron-sulfur cluster assembly factor IBA57</Name>
+            <Symbol>IBA57</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181873</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q5T440</Reference>
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+      <Name lang="en">High myopia-sensorineural deafness syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23543054[PMID]</SourceOfValidation>
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+            <Name lang="en">SLIT and NTRK like family member 6</Name>
+            <Symbol>SLITRK6</Symbol>
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+              <Synonym lang="en">FLJ22774</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184564</Reference>
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+              <ExternalReference id="79608">
+                <Source>Genatlas</Source>
+                <Reference>SLITRK6</Reference>
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+                <Reference>23503</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H5Y7</Reference>
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+            <LocusList count="1">
+              <Locus id="39289">
+                <GeneLocus>13q31.1</GeneLocus>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22293">
+      <OrphaCode>363400</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363400</ExpertLink>
+      <Name lang="en">Severe neurodegenerative syndrome with lipodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23564749[PMID]</SourceOfValidation>
+          <Gene id="15380">
+            <Name lang="en">BSCL2 lipid droplet biogenesis associated, seipin</Name>
+            <Symbol>BSCL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">seipin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57905">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168000</Reference>
+              </ExternalReference>
+              <ExternalReference id="26243">
+                <Source>Genatlas</Source>
+                <Reference>BSCL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26241">
+                <Source>HGNC</Source>
+                <Reference>15832</Reference>
+              </ExternalReference>
+              <ExternalReference id="26240">
+                <Source>OMIM</Source>
+                <Reference>606158</Reference>
+              </ExternalReference>
+              <ExternalReference id="33937">
+                <Source>SwissProt</Source>
+                <Reference>Q96G97</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25403">
+                <GeneLocus>11q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22328">
+      <OrphaCode>363618</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363618</ExpertLink>
+      <Name lang="en">LMNA-related cardiocutaneous progeria syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23666920[PMID]</SourceOfValidation>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
+              </ExternalReference>
+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
+              </ExternalReference>
+              <ExternalReference id="30962">
+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
+              </ExternalReference>
+              <ExternalReference id="30961">
+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
+              </ExternalReference>
+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
+              </ExternalReference>
+              <ExternalReference id="33429">
+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9141">
+                <GeneLocus>1q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22329">
+      <OrphaCode>363623</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363623</ExpertLink>
+      <Name lang="en">GMPPB-related limb-girdle muscular dystrophy R19</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768512[PMID]</SourceOfValidation>
+          <Gene id="22266">
+            <Name lang="en">GDP-mannose pyrophosphorylase B</Name>
+            <Symbol>GMPPB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1851</Synonym>
+              <Synonym lang="en">mannose-1-phosphate guanyltransferase beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173540</Reference>
+              </ExternalReference>
+              <ExternalReference id="81240">
+                <Source>Genatlas</Source>
+                <Reference>GMPPB</Reference>
+              </ExternalReference>
+              <ExternalReference id="81238">
+                <Source>HGNC</Source>
+                <Reference>22932</Reference>
+              </ExternalReference>
+              <ExternalReference id="81239">
+                <Source>OMIM</Source>
+                <Reference>615320</Reference>
+              </ExternalReference>
+              <ExternalReference id="83960">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5P6</Reference>
+              </ExternalReference>
+              <ExternalReference id="81241">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5P6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12753">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22331">
+      <OrphaCode>363649</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363649</ExpertLink>
+      <Name lang="en">Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23770608[PMID]</SourceOfValidation>
+          <Gene id="22403">
+            <Name lang="en">DNA polymerase delta 1, catalytic subunit</Name>
+            <Symbol>POLD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDC2</Synonym>
+              <Synonym lang="en">CDC2 homolog (S. cerevisiae)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84022">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000062822</Reference>
+              </ExternalReference>
+              <ExternalReference id="81838">
+                <Source>Genatlas</Source>
+                <Reference>POLD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="81836">
+                <Source>HGNC</Source>
+                <Reference>9175</Reference>
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+              <ExternalReference id="81837">
+                <Source>OMIM</Source>
+                <Reference>174761</Reference>
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+              <ExternalReference id="84021">
+                <Source>Reactome</Source>
+                <Reference>P28340</Reference>
+              </ExternalReference>
+              <ExternalReference id="81839">
+                <Source>SwissProt</Source>
+                <Reference>P28340</Reference>
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+            <LocusList count="1">
+              <Locus id="12833">
+                <GeneLocus>19q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22332">
+      <OrphaCode>363654</OrphaCode>
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+      <Name lang="en">X-linked parkinsonism-spasticity syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23595882[PMID]</SourceOfValidation>
+          <Gene id="15326">
+            <Name lang="en">ATPase H+ transporting accessory protein 2</Name>
+            <Symbol>ATP6AP2</Symbol>
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+              <Synonym lang="en">APT6M8-9</Synonym>
+              <Synonym lang="en">ATP6M8-9</Synonym>
+              <Synonym lang="en">M8-9</Synonym>
+              <Synonym lang="en">PRR</Synonym>
+              <Synonym lang="en">RENR</Synonym>
+              <Synonym lang="en">V-ATPase M8.9 subunit</Synonym>
+              <Synonym lang="en">prorenin receptor</Synonym>
+              <Synonym lang="en">renin receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58388">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182220</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATP6AP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18305</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300556</Reference>
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+              <ExternalReference id="82782">
+                <Source>Reactome</Source>
+                <Reference>O75787</Reference>
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+                <Source>SwissProt</Source>
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+    <Disorder id="22334">
+      <OrphaCode>363665</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363665</ExpertLink>
+      <Name lang="en">Acroosteolysis-keloid-like lesions-premature aging syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26279204[PMID]</SourceOfValidation>
+          <Gene id="16785">
+            <Name lang="en">platelet derived growth factor receptor beta</Name>
+            <Symbol>PDGFRB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD140b</Synonym>
+              <Synonym lang="en">JTK12</Synonym>
+              <Synonym lang="en">PDGFR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58605">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113721</Reference>
+              </ExternalReference>
+              <ExternalReference id="34923">
+                <Source>Genatlas</Source>
+                <Reference>PDGFRB</Reference>
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+              <ExternalReference id="34926">
+                <Source>HGNC</Source>
+                <Reference>8804</Reference>
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+              <ExternalReference id="83028">
+                <Source>IUPHAR</Source>
+                <Reference>1804</Reference>
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+                <Source>OMIM</Source>
+                <Reference>173410</Reference>
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+              <ExternalReference id="58606">
+                <Source>Reactome</Source>
+                <Reference>P09619</Reference>
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+                <Source>SwissProt</Source>
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+                <LocusKey>1</LocusKey>
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+      <OrphaCode>363540</OrphaCode>
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+      <Name lang="en">Leukoencephalopathy with mild cerebellar ataxia and white matter edema</Name>
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+          <SourceOfValidation>23707145[PMID]</SourceOfValidation>
+          <Gene id="19025">
+            <Name lang="en">chloride voltage-gated channel 2</Name>
+            <Symbol>CLCN2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CLC2</Synonym>
+              <Synonym lang="en">ClC-2</Synonym>
+              <Synonym lang="en">EJM6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114859</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CLCN2</Reference>
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+              <ExternalReference id="44979">
+                <Source>HGNC</Source>
+                <Reference>2020</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>699</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P51788</Reference>
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+                <Source>SwissProt</Source>
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+      <OrphaCode>363549</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363549</ExpertLink>
+      <Name lang="en">Acute encephalopathy with biphasic seizures and late reduced diffusion</Name>
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+            <Name lang="en">adenosine A2a receptor</Name>
+            <Symbol>ADORA2A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128271</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ADORA2A</Reference>
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+                <Reference>263</Reference>
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+                <Reference>19</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">CTCF-related neurodevelopmental disorder</Name>
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+            <Name lang="en">CCCTC-binding factor</Name>
+            <Symbol>CTCF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">11 zinc finger transcriptional repressor</Synonym>
+              <Synonym lang="en">CFAP108</Synonym>
+              <Synonym lang="en">FAP108</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102974</Reference>
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+              <ExternalReference id="81827">
+                <Source>Genatlas</Source>
+                <Reference>CTCF</Reference>
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+                <Reference>13723</Reference>
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+                <Reference>604167</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P49711</Reference>
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+                <Reference>P49711</Reference>
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+      <OrphaCode>363494</OrphaCode>
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+      <Name lang="en">Non-seminomatous germ cell tumor of testis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19483682[PMID]_20228134[PMID]_23640991[PMID]</SourceOfValidation>
+          <Gene id="18457">
+            <Name lang="en">KIT ligand</Name>
+            <Symbol>KITLG</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">DFNA69</Synonym>
+              <Synonym lang="en">FPH2</Synonym>
+              <Synonym lang="en">KL-1</Synonym>
+              <Synonym lang="en">Kitl</Synonym>
+              <Synonym lang="en">SCF</Synonym>
+              <Synonym lang="en">SF</Synonym>
+              <Synonym lang="en">SLF</Synonym>
+              <Synonym lang="en">familial progressive hyperpigmentation 2</Synonym>
+              <Synonym lang="en">mast cell growth factor</Synonym>
+              <Synonym lang="en">steel factor</Synonym>
+              <Synonym lang="en">stem cell factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59302">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049130</Reference>
+              </ExternalReference>
+              <ExternalReference id="42380">
+                <Source>Genatlas</Source>
+                <Reference>KITLG</Reference>
+              </ExternalReference>
+              <ExternalReference id="42381">
+                <Source>HGNC</Source>
+                <Reference>6343</Reference>
+              </ExternalReference>
+              <ExternalReference id="42382">
+                <Source>OMIM</Source>
+                <Reference>184745</Reference>
+              </ExternalReference>
+              <ExternalReference id="59303">
+                <Source>Reactome</Source>
+                <Reference>P21583</Reference>
+              </ExternalReference>
+              <ExternalReference id="42383">
+                <Source>SwissProt</Source>
+                <Reference>P21583</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23253">
+                <GeneLocus>12q21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19483682[PMID]_23640991[PMID]</SourceOfValidation>
+          <Gene id="22159">
+            <Name lang="en">sprouty RTK signaling antagonist 4</Name>
+            <Symbol>SPRY4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143149">
+                <Source>Reactome</Source>
+                <Reference>Q9C004</Reference>
+              </ExternalReference>
+              <ExternalReference id="83847">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187678</Reference>
+              </ExternalReference>
+              <ExternalReference id="79664">
+                <Source>Genatlas</Source>
+                <Reference>SPRY4</Reference>
+              </ExternalReference>
+              <ExternalReference id="79662">
+                <Source>HGNC</Source>
+                <Reference>15533</Reference>
+              </ExternalReference>
+              <ExternalReference id="79663">
+                <Source>OMIM</Source>
+                <Reference>607984</Reference>
+              </ExternalReference>
+              <ExternalReference id="79665">
+                <Source>SwissProt</Source>
+                <Reference>Q9C004</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38013">
+                <GeneLocus>5q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22317">
+      <OrphaCode>363523</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363523</ExpertLink>
+      <Name lang="en">Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23606727[PMID]</SourceOfValidation>
+          <Gene id="22399">
+            <Name lang="en">component of oligomeric golgi complex 6</Name>
+            <Symbol>COG6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COD2</Synonym>
+              <Synonym lang="en">KIAA1134</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84015">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133103</Reference>
+              </ExternalReference>
+              <ExternalReference id="81808">
+                <Source>Genatlas</Source>
+                <Reference>COG6</Reference>
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+              <ExternalReference id="81806">
+                <Source>HGNC</Source>
+                <Reference>18621</Reference>
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+              <ExternalReference id="81807">
+                <Source>OMIM</Source>
+                <Reference>606977</Reference>
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+              <ExternalReference id="98105">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2V7</Reference>
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+              <ExternalReference id="81809">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2V7</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q14.11</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22319">
+      <OrphaCode>363534</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=363534</ExpertLink>
+      <Name lang="en">Mitochondrial DNA depletion syndrome, hepatocerebrorenal form</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23375728[PMID]</SourceOfValidation>
+          <Gene id="17411">
+            <Name lang="en">twinkle mtDNA helicase</Name>
+            <Symbol>TWNK</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FLJ21832</Synonym>
+              <Synonym lang="en">PEO</Synonym>
+              <Synonym lang="en">PEO1</Synonym>
+              <Synonym lang="en">T7 helicase-related protein with intramitochondrial nucleoid localization</Synonym>
+              <Synonym lang="en">TWINKLE</Synonym>
+              <Synonym lang="en">TWINL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107815</Reference>
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+              <ExternalReference id="37622">
+                <Source>Genatlas</Source>
+                <Reference>C10orf2</Reference>
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+              <ExternalReference id="37624">
+                <Source>HGNC</Source>
+                <Reference>1160</Reference>
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+              <ExternalReference id="37623">
+                <Source>OMIM</Source>
+                <Reference>606075</Reference>
+              </ExternalReference>
+              <ExternalReference id="87982">
+                <Source>Reactome</Source>
+                <Reference>Q96RR1</Reference>
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+              <ExternalReference id="37625">
+                <Source>SwissProt</Source>
+                <Reference>Q96RR1</Reference>
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+                <GeneLocus>10q24.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22318">
+      <OrphaCode>363528</OrphaCode>
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+      <Name lang="en">Intellectual disability-strabismus syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23620220[PMID]</SourceOfValidation>
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+            <Name lang="en">adenosine deaminase tRNA specific 3</Name>
+            <Symbol>ADAT3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TAD3</Synonym>
+              <Synonym lang="en">tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97354">
+                <Source>Reactome</Source>
+                <Reference>Q96EY9</Reference>
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+              <ExternalReference id="81816">
+                <Source>SwissProt</Source>
+                <Reference>Q96EY9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213638</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25151</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">THO complex subunit 6</Name>
+            <Symbol>THOC6</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100347">
+                <Source>Reactome</Source>
+                <Reference>Q86W42</Reference>
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+              <ExternalReference id="83992">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131652</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>THOC6</Reference>
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+                <Reference>28369</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">BICD cargo adaptor 2</Name>
+            <Symbol>BICD2</Symbol>
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+              <Synonym lang="en">KIAA0699</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185963</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+                <Reference>6006</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">D,L-2-hydroxyglutaric aciduria</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>10979</Reference>
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+              <ExternalReference id="80414">
+                <Source>OMIM</Source>
+                <Reference>190315</Reference>
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+              <ExternalReference id="83914">
+                <Source>Reactome</Source>
+                <Reference>P53007</Reference>
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+              <ExternalReference id="80416">
+                <Source>SwissProt</Source>
+                <Reference>P53007</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1051</Reference>
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+              <ExternalReference id="83915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100075</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22189">
+      <OrphaCode>356961</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=356961</ExpertLink>
+      <Name lang="en">SLC35A2-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23561849[PMID]</SourceOfValidation>
+          <Gene id="22235">
+            <Name lang="en">solute carrier family 35 member A2</Name>
+            <Symbol>SLC35A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">UGAT</Synonym>
+              <Synonym lang="en">UGT</Synonym>
+              <Synonym lang="en">UGT1</Synonym>
+              <Synonym lang="en">UGT2</Synonym>
+              <Synonym lang="en">UGTL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>1139</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102100</Reference>
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+              <ExternalReference id="80404">
+                <Source>Genatlas</Source>
+                <Reference>SLC35A2</Reference>
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+              <ExternalReference id="80402">
+                <Source>HGNC</Source>
+                <Reference>11022</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P78381</Reference>
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+                <Reference>P78381</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="22195">
+      <OrphaCode>357008</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=357008</ExpertLink>
+      <Name lang="en">Hemolytic uremic syndrome with DGKE deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23542698[PMID]_20301541[PMID]</SourceOfValidation>
+          <Gene id="21984">
+            <Name lang="en">diacylglycerol kinase epsilon</Name>
+            <Symbol>DGKE</Symbol>
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+              <Synonym lang="en">DAGK6</Synonym>
+              <Synonym lang="en">DGK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153933</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DGKE</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2852</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601440</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P52429</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P52429</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">ANK3-related intellectual disability-sleep disturbance syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ankyrin 3</Name>
+            <Symbol>ANK3</Symbol>
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+              <Synonym lang="en">ankyrin-3, node of Ranvier</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000151150</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>600465</Reference>
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+              <ExternalReference id="83916">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q12955</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z333</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107290</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>445</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z333</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Autosomal recessive cutis laxa type 2, classic type</Name>
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+                <Reference>857</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131100</Reference>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28065471[PMID]</SourceOfValidation>
+          <Gene id="25319">
+            <Name lang="en">ATPase H+ transporting V1 subunit A</Name>
+            <Symbol>ATP6V1A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">V-ATPase subunit A</Synonym>
+              <Synonym lang="en">V-type proton ATPase (V-ATPase) catalytic subunit A</Synonym>
+              <Synonym lang="en">VA68</Synonym>
+              <Synonym lang="en">Vma1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143111">
+                <Source>HGNC</Source>
+                <Reference>851</Reference>
+              </ExternalReference>
+              <ExternalReference id="143112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114573</Reference>
+              </ExternalReference>
+              <ExternalReference id="143113">
+                <Source>OMIM</Source>
+                <Reference>607027</Reference>
+              </ExternalReference>
+              <ExternalReference id="143114">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="143115">
+                <Source>Reactome</Source>
+                <Reference>P38606</Reference>
+              </ExternalReference>
+              <ExternalReference id="200532">
+                <Source>SwissProt</Source>
+                <Reference>P38606</Reference>
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+              <ExternalReference id="190726">
+                <Source>IUPHAR</Source>
+                <Reference>810</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80039">
+                <GeneLocus>3q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301755[PMID]_19321599[PMID]_18157129[PMID]</SourceOfValidation>
+          <Gene id="17303">
+            <Name lang="en">ATPase H+ transporting V0 subunit a2</Name>
+            <Symbol>ATP6V0A2</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">ATP6N1D</Synonym>
+              <Synonym lang="en">ATP6a2</Synonym>
+              <Synonym lang="en">J6B7</Synonym>
+              <Synonym lang="en">RTF</Synonym>
+              <Synonym lang="en">Stv1</Synonym>
+              <Synonym lang="en">TJ6</Synonym>
+              <Synonym lang="en">TJ6M</Synonym>
+              <Synonym lang="en">TJ6s</Synonym>
+              <Synonym lang="en">V-ATPase subunit a2</Synonym>
+              <Synonym lang="en">V-type proton ATPase 116 kDa subunit a2</Synonym>
+              <Synonym lang="en">Vph1</Synonym>
+              <Synonym lang="en">a2</Synonym>
+              <Synonym lang="en">a2V</Synonym>
+              <Synonym lang="en">regeneration and tolerance factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58290">
+                <Source>Reactome</Source>
+                <Reference>Q9Y487</Reference>
+              </ExternalReference>
+              <ExternalReference id="36741">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y487</Reference>
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+              <ExternalReference id="58289">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185344</Reference>
+              </ExternalReference>
+              <ExternalReference id="36738">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V0A2</Reference>
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+              <ExternalReference id="36740">
+                <Source>HGNC</Source>
+                <Reference>18481</Reference>
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+              <ExternalReference id="36739">
+                <Source>OMIM</Source>
+                <Reference>611716</Reference>
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+              <ExternalReference id="190421">
+                <Source>IUPHAR</Source>
+                <Reference>824</Reference>
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+            <LocusList count="1">
+              <Locus id="60251">
+                <GeneLocus>12q24.31</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22202">
+      <OrphaCode>357064</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=357064</ExpertLink>
+      <Name lang="en">Autosomal recessive cutis laxa type 2B</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19576563[PMID]</SourceOfValidation>
+          <Gene id="18472">
+            <Name lang="en">pyrroline-5-carboxylate reductase 1</Name>
+            <Symbol>PYCR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">P5C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58136">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183010</Reference>
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+              <ExternalReference id="42451">
+                <Source>Genatlas</Source>
+                <Reference>PYCR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="42452">
+                <Source>HGNC</Source>
+                <Reference>9721</Reference>
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+              <ExternalReference id="42453">
+                <Source>OMIM</Source>
+                <Reference>179035</Reference>
+              </ExternalReference>
+              <ExternalReference id="58137">
+                <Source>Reactome</Source>
+                <Reference>P32322</Reference>
+              </ExternalReference>
+              <ExternalReference id="42454">
+                <Source>SwissProt</Source>
+                <Reference>P32322</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10791">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="22093">
+      <OrphaCode>352654</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352654</ExpertLink>
+      <Name lang="en">Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23359680[PMID]</SourceOfValidation>
+          <Gene id="15682">
+            <Name lang="en">ubiquitin C-terminal hydrolase L1</Name>
+            <Symbol>UCHL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PGP9.5</Synonym>
+              <Synonym lang="en">Uch-L1</Synonym>
+              <Synonym lang="en">ubiquitin thiolesterase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126334">
+                <Source>Reactome</Source>
+                <Reference>P09936</Reference>
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+              <ExternalReference id="57856">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154277</Reference>
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+              <ExternalReference id="27697">
+                <Source>Genatlas</Source>
+                <Reference>UCHL1</Reference>
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+              <ExternalReference id="27699">
+                <Source>HGNC</Source>
+                <Reference>12513</Reference>
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+              <ExternalReference id="82850">
+                <Source>IUPHAR</Source>
+                <Reference>2426</Reference>
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+              <ExternalReference id="27698">
+                <Source>OMIM</Source>
+                <Reference>191342</Reference>
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+              <ExternalReference id="32654">
+                <Source>SwissProt</Source>
+                <Reference>P09936</Reference>
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+                <GeneLocus>4p13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22095">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352662</ExpertLink>
+      <Name lang="en">Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23349227[PMID]</SourceOfValidation>
+          <Gene id="16871">
+            <Name lang="en">NLR family pyrin domain containing 1</Name>
+            <Symbol>NLRP1</Symbol>
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+              <Synonym lang="en">CLR17.1</Synonym>
+              <Synonym lang="en">DEFCAP</Synonym>
+              <Synonym lang="en">DKFZp586O1822</Synonym>
+              <Synonym lang="en">KIAA0926</Synonym>
+              <Synonym lang="en">NAC</Synonym>
+              <Synonym lang="en">VAMAS1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>1768</Reference>
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+              <ExternalReference id="57615">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091592</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NLRP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14374</Reference>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="35313">
+                <Source>SwissProt</Source>
+                <Reference>Q9C000</Reference>
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+      <Name lang="en">Autosomal recessive cerebellar ataxia with late-onset spasticity</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="21890">
+            <Name lang="en">glucosylceramidase beta 2</Name>
+            <Symbol>GBA2</Symbol>
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+              <Synonym lang="en">Bile acid beta-glucosidase</Synonym>
+              <Synonym lang="en">DKFZp762K054</Synonym>
+              <Synonym lang="en">KIAA1605</Synonym>
+              <Synonym lang="en">Non-lysosomal glucosylceramidase</Synonym>
+              <Synonym lang="en">bile acid beta-glucosidase</Synonym>
+              <Synonym lang="en">glucocerebrosidase 2</Synonym>
+              <Synonym lang="en">non-lysosomal glucosylceramidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>18986</Reference>
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+              <ExternalReference id="77772">
+                <Source>OMIM</Source>
+                <Reference>609471</Reference>
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+              <ExternalReference id="83697">
+                <Source>Reactome</Source>
+                <Reference>Q9HCG7</Reference>
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+              <ExternalReference id="77774">
+                <Source>SwissProt</Source>
+                <Reference>Q9HCG7</Reference>
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+              <ExternalReference id="83698">
+                <Source>Ensembl</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352649</ExpertLink>
+      <Name lang="en">Brain dopamine-serotonin vesicular transport disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 18 member A2</Name>
+            <Symbol>SLC18A2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165646</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC18A2</Reference>
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+                <Reference>1012</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q05940</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Progressive myoclonic epilepsy with dystonia</Name>
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+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
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+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+      <Name lang="en">Bainbridge-Ropers syndrome</Name>
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+            <Name lang="en">ASXL transcriptional regulator 3</Name>
+            <Symbol>ASXL3</Symbol>
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+                <Reference>ENSG00000141431</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ASXL3</Reference>
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+                <Reference>29357</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615115</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9C0F0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22083">
+      <OrphaCode>352587</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352587</ExpertLink>
+      <Name lang="en">Focal epilepsy-intellectual disability-cerebro-cerebellar malformation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23517570[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
+              </ExternalReference>
+              <ExternalReference id="47768">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
+              </ExternalReference>
+              <ExternalReference id="47769">
+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+              <ExternalReference id="47770">
+                <Source>OMIM</Source>
+                <Reference>613577</Reference>
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+              <ExternalReference id="47771">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULP9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22082">
+      <OrphaCode>352582</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352582</ExpertLink>
+      <Name lang="en">Familial infantile myoclonic epilepsy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28422131[PMID]</SourceOfValidation>
+          <Gene id="25557">
+            <Name lang="en">complexin 1</Name>
+            <Symbol>CPLX1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPX-I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="145757">
+                <Source>HGNC</Source>
+                <Reference>2309</Reference>
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+              <ExternalReference id="145758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168993</Reference>
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+              <ExternalReference id="145759">
+                <Source>SwissProt</Source>
+                <Reference>O14810</Reference>
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+              <ExternalReference id="145760">
+                <Source>OMIM</Source>
+                <Reference>605032</Reference>
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+              <ExternalReference id="145761">
+                <Source>Genatlas</Source>
+                <Reference>CPLX1</Reference>
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+              <ExternalReference id="145762">
+                <Source>Reactome</Source>
+                <Reference>O14810</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20727515[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+              <ExternalReference id="47768">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+              <ExternalReference id="47770">
+                <Source>OMIM</Source>
+                <Reference>613577</Reference>
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+              <ExternalReference id="47771">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULP9</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22110">
+      <OrphaCode>352734</OrphaCode>
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+      <Name lang="en">Minimal pigment oculocutaneous albinism type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301345[PMID]</SourceOfValidation>
+          <Gene id="15677">
+            <Name lang="en">tyrosinase</Name>
+            <Symbol>TYR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">OCA1</Synonym>
+              <Synonym lang="en">OCA1A</Synonym>
+              <Synonym lang="en">OCAIA</Synonym>
+              <Synonym lang="en">oculocutaneous albinism IA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57009">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077498</Reference>
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+              <ExternalReference id="27675">
+                <Source>Genatlas</Source>
+                <Reference>TYR</Reference>
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+              <ExternalReference id="27673">
+                <Source>HGNC</Source>
+                <Reference>12442</Reference>
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+              <ExternalReference id="82849">
+                <Source>IUPHAR</Source>
+                <Reference>2643</Reference>
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+              <ExternalReference id="27672">
+                <Source>OMIM</Source>
+                <Reference>606933</Reference>
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+              <ExternalReference id="97194">
+                <Source>Reactome</Source>
+                <Reference>P14679</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22111">
+      <OrphaCode>352737</OrphaCode>
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+      <Name lang="en">Temperature-sensitive oculocutaneous albinism type 1</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15677">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077498</Reference>
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+              <ExternalReference id="27675">
+                <Source>Genatlas</Source>
+                <Reference>TYR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12442</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2643</Reference>
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+              <ExternalReference id="27672">
+                <Source>OMIM</Source>
+                <Reference>606933</Reference>
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+              <ExternalReference id="97194">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+    <Disorder id="22104">
+      <OrphaCode>352709</OrphaCode>
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+      <Name lang="en">CLN13 disease</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="22179">
+            <Name lang="en">cathepsin F</Name>
+            <Symbol>CTSF</Symbol>
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+              <Synonym lang="en">CLN13</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174080</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2531</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2347</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83876">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX1</Reference>
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+      <Name lang="en">Facial dysmorphism-immunodeficiency-livedo-short stature syndrome</Name>
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+            <Name lang="en">DNA polymerase epsilon, catalytic subunit</Name>
+            <Symbol>POLE</Symbol>
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+              <Synonym lang="en">POLE1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="79863">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q07864</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q07864</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177084</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Progressive retinal dystrophy due to retinol transport defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+            <Name lang="en">retinol binding protein 4</Name>
+            <Symbol>RBP4</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138207</Reference>
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+                <Reference>RBP4</Reference>
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+                <Reference>9922</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02753</Reference>
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+      <Name lang="en">Attenuated Chédiak-Higashi syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
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+            <Name lang="en">lysosomal trafficking regulator</Name>
+            <Symbol>LYST</Symbol>
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+              <Synonym lang="en">Mauve</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143669</Reference>
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+                <Reference>LYST</Reference>
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+              <ExternalReference id="31220">
+                <Source>HGNC</Source>
+                <Reference>1968</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606897</Reference>
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+                <Reference>Q99698</Reference>
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+      <OrphaCode>352665</OrphaCode>
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+      <Name lang="en">Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion</Name>
+      <DisorderType id="21443">
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+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26173930[PMID]_24501764[PMID]_25348648[PMID]</SourceOfValidation>
+          <Gene id="23740">
+            <Name lang="en">heterogeneous nuclear ribonucleoprotein K</Name>
+            <Symbol>HNRNPK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CSBP</Synonym>
+              <Synonym lang="en">TUNP</Synonym>
+              <Synonym lang="en">transformation upregulated nuclear protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="101126">
+                <Source>HGNC</Source>
+                <Reference>5044</Reference>
+              </ExternalReference>
+              <ExternalReference id="101127">
+                <Source>OMIM</Source>
+                <Reference>600712</Reference>
+              </ExternalReference>
+              <ExternalReference id="101128">
+                <Source>Genatlas</Source>
+                <Reference>HNRNPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="101129">
+                <Source>SwissProt</Source>
+                <Reference>P61978</Reference>
+              </ExternalReference>
+              <ExternalReference id="101130">
+                <Source>Reactome</Source>
+                <Reference>P61978</Reference>
+              </ExternalReference>
+              <ExternalReference id="101131">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165119</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21923">
+                <GeneLocus>9q21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22097">
+      <OrphaCode>352670</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352670</ExpertLink>
+      <Name lang="en">Autosomal dominant intermediate Charcot-Marie-Tooth disease type F</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23434117[PMID]</SourceOfValidation>
+          <Gene id="22176">
+            <Name lang="en">G protein subunit beta 4</Name>
+            <Symbol>GNB4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Guanine nucleotide-binding protein subunit beta-4</Synonym>
+              <Synonym lang="en">transducin beta chain 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114450</Reference>
+              </ExternalReference>
+              <ExternalReference id="79832">
+                <Source>Genatlas</Source>
+                <Reference>GNB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="79830">
+                <Source>HGNC</Source>
+                <Reference>20731</Reference>
+              </ExternalReference>
+              <ExternalReference id="79831">
+                <Source>OMIM</Source>
+                <Reference>610863</Reference>
+              </ExternalReference>
+              <ExternalReference id="83869">
+                <Source>Reactome</Source>
+                <Reference>Q9HAV0</Reference>
+              </ExternalReference>
+              <ExternalReference id="79833">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAV0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21641">
+                <GeneLocus>3q26.33</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22098">
+      <OrphaCode>352675</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352675</ExpertLink>
+      <Name lang="en">X-linked Charcot-Marie-Tooth disease type 6</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23297365[PMID]</SourceOfValidation>
+          <Gene id="22177">
+            <Name lang="en">pyruvate dehydrogenase kinase 3</Name>
+            <Symbol>PDK3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="79835">
+                <Source>HGNC</Source>
+                <Reference>8811</Reference>
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+              <ExternalReference id="83873">
+                <Source>IUPHAR</Source>
+                <Reference>2143</Reference>
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+              <ExternalReference id="81251">
+                <Source>OMIM</Source>
+                <Reference>300906</Reference>
+              </ExternalReference>
+              <ExternalReference id="83871">
+                <Source>Reactome</Source>
+                <Reference>Q15120</Reference>
+              </ExternalReference>
+              <ExternalReference id="79838">
+                <Source>SwissProt</Source>
+                <Reference>Q15120</Reference>
+              </ExternalReference>
+              <ExternalReference id="83872">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067992</Reference>
+              </ExternalReference>
+              <ExternalReference id="79837">
+                <Source>Genatlas</Source>
+                <Reference>PDK3</Reference>
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+            <LocusList count="1">
+              <Locus id="22787">
+                <GeneLocus>Xp22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22099">
+      <OrphaCode>352682</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352682</ExpertLink>
+      <Name lang="en">Cobblestone lissencephaly without muscular or ocular involvement</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23472759[PMID]</SourceOfValidation>
+          <Gene id="22178">
+            <Name lang="en">laminin subunit beta 1</Name>
+            <Symbol>LAMB1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091136</Reference>
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+              <ExternalReference id="79844">
+                <Source>Genatlas</Source>
+                <Reference>LAMB1</Reference>
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+              <ExternalReference id="79842">
+                <Source>HGNC</Source>
+                <Reference>6486</Reference>
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+              <ExternalReference id="79843">
+                <Source>OMIM</Source>
+                <Reference>150240</Reference>
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+              <ExternalReference id="83874">
+                <Source>Reactome</Source>
+                <Reference>P07942</Reference>
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+              <ExternalReference id="79845">
+                <Source>SwissProt</Source>
+                <Reference>P07942</Reference>
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+            <LocusList count="1">
+              <Locus id="24889">
+                <GeneLocus>7q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22127">
+      <OrphaCode>353277</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353277</ExpertLink>
+      <Name lang="en">Rubinstein-Taybi syndrome due to CREBBP mutations</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301699[PMID]</SourceOfValidation>
+          <Gene id="15801">
+            <Name lang="en">CREB binding protein</Name>
+            <Symbol>CREBBP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CBP</Synonym>
+              <Synonym lang="en">KAT3A</Synonym>
+              <Synonym lang="en">RTS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005339</Reference>
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+              <ExternalReference id="28254">
+                <Source>Genatlas</Source>
+                <Reference>CREBBP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2348</Reference>
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+              <ExternalReference id="87974">
+                <Source>IUPHAR</Source>
+                <Reference>2734</Reference>
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+              <ExternalReference id="28255">
+                <Source>OMIM</Source>
+                <Reference>600140</Reference>
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+              <ExternalReference id="56896">
+                <Source>Reactome</Source>
+                <Reference>Q92793</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92793</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>353225</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353225</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Primary adult open-angle glaucoma</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="6">
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+          <SourceOfValidation>15342693[PMID]</SourceOfValidation>
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+            <Name lang="en">cytochrome P450 family 1 subfamily B member 1</Name>
+            <Symbol>CYP1B1</Symbol>
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+              <Synonym lang="en">CP1B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193636">
+                <Source>IUPHAR</Source>
+                <Reference>1320</Reference>
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+              <ExternalReference id="58296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138061</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CYP1B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2597</Reference>
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+              <ExternalReference id="28429">
+                <Source>OMIM</Source>
+                <Reference>601771</Reference>
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+              <ExternalReference id="58297">
+                <Source>Reactome</Source>
+                <Reference>Q16678</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16678</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19765683[PMID]_20215012[PMID]</SourceOfValidation>
+          <Gene id="22184">
+            <Name lang="en">neurotrophin 4</Name>
+            <Symbol>NTF4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GLC1O</Synonym>
+              <Synonym lang="en">NT-4/5</Synonym>
+              <Synonym lang="en">Neurotrophic factor 4</Synonym>
+              <Synonym lang="en">neurotrophic factor 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000225950</Reference>
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+                <Reference>8024</Reference>
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+                <Source>OMIM</Source>
+                <Reference>162662</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P34130</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="25277">
+            <Name lang="en">glaucoma 1, open angle, B (adult-onset)</Name>
+            <Symbol>GLC1B</Symbol>
+            <SynonymList count="0">
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15677485[PMID]_21931130[PMID]</SourceOfValidation>
+          <Gene id="15720">
+            <Name lang="en">WD repeat domain 36</Name>
+            <Symbol>WDR36</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TA-WDRP</Synonym>
+              <Synonym lang="en">UTP21</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100297">
+                <Source>Reactome</Source>
+                <Reference>Q8NI36</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>30696</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134987</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11834836[PMID]_20671613[PMID]</SourceOfValidation>
+          <Gene id="16595">
+            <Name lang="en">optineurin</Name>
+            <Symbol>OPTN</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123240</Reference>
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+                <Reference>OPTN</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602432</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96CV9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96CV9</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ankyrin repeat and SOCS box containing 10</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146926</Reference>
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+                <Reference>17185</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615054</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WXI3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WXI3</Reference>
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+                <GeneLocus>7q36.1</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22120">
+      <OrphaCode>353220</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353220</ExpertLink>
+      <Name lang="en">Familial primary localized cutaneous amyloidosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20507362[PMID]</SourceOfValidation>
+          <Gene id="16935">
+            <Name lang="en">oncostatin M receptor</Name>
+            <Symbol>OSMR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">OSMRB</Synonym>
+              <Synonym lang="en">OSMRbeta</Synonym>
+              <Synonym lang="en">Oncostatin-M-specific receptor subunit beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="98073">
+                <Source>Reactome</Source>
+                <Reference>Q99650</Reference>
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+              <ExternalReference id="35775">
+                <Source>SwissProt</Source>
+                <Reference>Q99650</Reference>
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+              <ExternalReference id="59088">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145623</Reference>
+              </ExternalReference>
+              <ExternalReference id="35774">
+                <Source>Genatlas</Source>
+                <Reference>OSMR</Reference>
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+              <ExternalReference id="35773">
+                <Source>HGNC</Source>
+                <Reference>8507</Reference>
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+              <ExternalReference id="35776">
+                <Source>OMIM</Source>
+                <Reference>601743</Reference>
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+              <ExternalReference id="190415">
+                <Source>IUPHAR</Source>
+                <Reference>1714</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19690585[PMID]</SourceOfValidation>
+          <Gene id="18918">
+            <Name lang="en">interleukin 31 receptor A</Name>
+            <Symbol>IL31RA</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CRL</Synonym>
+              <Synonym lang="en">CRL3</Synonym>
+              <Synonym lang="en">GLM-R</Synonym>
+              <Synonym lang="en">Glmr</Synonym>
+              <Synonym lang="en">IL-31RA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="100325">
+                <Source>Reactome</Source>
+                <Reference>Q8NI17</Reference>
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+              <ExternalReference id="43864">
+                <Source>Genatlas</Source>
+                <Reference>IL31RA</Reference>
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+              <ExternalReference id="43863">
+                <Source>HGNC</Source>
+                <Reference>18969</Reference>
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+              <ExternalReference id="43865">
+                <Source>OMIM</Source>
+                <Reference>609510</Reference>
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+              <ExternalReference id="43866">
+                <Source>SwissProt</Source>
+                <Reference>Q8NI17</Reference>
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+              <ExternalReference id="190464">
+                <Source>IUPHAR</Source>
+                <Reference>1710</Reference>
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+              <ExternalReference id="59087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164509</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22119">
+      <OrphaCode>353217</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353217</ExpertLink>
+      <Name lang="en">Epileptic encephalopathy with global cerebral demyelination</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19641205[PMID]</SourceOfValidation>
+          <Gene id="22182">
+            <Name lang="en">solute carrier family 25 member 12</Name>
+            <Symbol>SLC25A12</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Aralar</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83884">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115840</Reference>
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+              <ExternalReference id="79878">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A12</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10982</Reference>
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+              <ExternalReference id="79877">
+                <Source>OMIM</Source>
+                <Reference>603667</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75746</Reference>
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+              <ExternalReference id="79879">
+                <Source>SwissProt</Source>
+                <Reference>O75746</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1054</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22113">
+      <OrphaCode>352745</OrphaCode>
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+      <Name lang="en">Oculocutaneous albinism type 7</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23395477[PMID]</SourceOfValidation>
+          <Gene id="22163">
+            <Name lang="en">leucine rich melanocyte differentiation associated</Name>
+            <Symbol>LRMDA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CDA017</Synonym>
+              <Synonym lang="en">OCA7</Synonym>
+              <Synonym lang="en">oculocutaneous albinism 7, autosomal recessive</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148655</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C10orf11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23405</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614537</Reference>
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+              <ExternalReference id="79701">
+                <Source>SwissProt</Source>
+                <Reference>Q9H2I8</Reference>
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+                <GeneLocus>10q22.2-q22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>353320</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353320</ExpertLink>
+      <Name lang="en">Pyruvate carboxylase deficiency, benign type</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301764[PMID]</SourceOfValidation>
+          <Gene id="16616">
+            <Name lang="en">pyruvate carboxylase</Name>
+            <Symbol>PC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PCB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Congenital myasthenic syndromes with glycosylation defect</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">ALG2 alpha-1,3/1,6-mannosyltransferase</Name>
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+              <Synonym lang="en">CDG1I</Synonym>
+              <Synonym lang="en">CDGIi</Synonym>
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+              <Synonym lang="en">NET38</Synonym>
+              <Synonym lang="en">hALPG2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119523</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ALG2</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">dolichyl-phosphate N-acetylglucosaminephosphotransferase 1</Name>
+            <Symbol>DPAGT1</Symbol>
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+              <Synonym lang="en">ALG7</Synonym>
+              <Synonym lang="en">CDG-Ij</Synonym>
+              <Synonym lang="en">D11S366</Synonym>
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+              <Synonym lang="en">GlcNAc-1-P transferase 1</Synonym>
+              <Synonym lang="en">UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9H3H5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3H5</Reference>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>23404334[PMID]_21310273[PMID]</SourceOfValidation>
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+            <Name lang="en">glutamine--fructose-6-phosphate transaminase 1</Name>
+            <Symbol>GFPT1</Symbol>
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+              <Synonym lang="en">GFA</Synonym>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>26133662[PMID]</SourceOfValidation>
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+              <Synonym lang="en">mannose-1-phosphate guanyltransferase beta</Synonym>
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+                <Reference>22932</Reference>
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+                <Source>Reactome</Source>
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+    <Disorder id="22134">
+      <OrphaCode>353308</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353308</ExpertLink>
+      <Name lang="en">Pyruvate carboxylase deficiency, infantile type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301764[PMID]</SourceOfValidation>
+          <Gene id="16616">
+            <Name lang="en">pyruvate carboxylase</Name>
+            <Symbol>PC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PCB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173599</Reference>
+              </ExternalReference>
+              <ExternalReference id="32142">
+                <Source>Genatlas</Source>
+                <Reference>PC</Reference>
+              </ExternalReference>
+              <ExternalReference id="32140">
+                <Source>HGNC</Source>
+                <Reference>8636</Reference>
+              </ExternalReference>
+              <ExternalReference id="32139">
+                <Source>OMIM</Source>
+                <Reference>608786</Reference>
+              </ExternalReference>
+              <ExternalReference id="58788">
+                <Source>Reactome</Source>
+                <Reference>P11498</Reference>
+              </ExternalReference>
+              <ExternalReference id="33681">
+                <Source>SwissProt</Source>
+                <Reference>P11498</Reference>
+              </ExternalReference>
+              <ExternalReference id="190391">
+                <Source>IUPHAR</Source>
+                <Reference>1262</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60191">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22135">
+      <OrphaCode>353314</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353314</ExpertLink>
+      <Name lang="en">Pyruvate carboxylase deficiency, severe neonatal type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301764[PMID]</SourceOfValidation>
+          <Gene id="16616">
+            <Name lang="en">pyruvate carboxylase</Name>
+            <Symbol>PC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PCB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173599</Reference>
+              </ExternalReference>
+              <ExternalReference id="32142">
+                <Source>Genatlas</Source>
+                <Reference>PC</Reference>
+              </ExternalReference>
+              <ExternalReference id="32140">
+                <Source>HGNC</Source>
+                <Reference>8636</Reference>
+              </ExternalReference>
+              <ExternalReference id="32139">
+                <Source>OMIM</Source>
+                <Reference>608786</Reference>
+              </ExternalReference>
+              <ExternalReference id="58788">
+                <Source>Reactome</Source>
+                <Reference>P11498</Reference>
+              </ExternalReference>
+              <ExternalReference id="33681">
+                <Source>SwissProt</Source>
+                <Reference>P11498</Reference>
+              </ExternalReference>
+              <ExternalReference id="190391">
+                <Source>IUPHAR</Source>
+                <Reference>1262</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60191">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22133">
+      <OrphaCode>353298</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353298</ExpertLink>
+      <Name lang="en">Roifman syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26522830[PMID]</SourceOfValidation>
+          <Gene id="20137">
+            <Name lang="en">RNA, U4atac small nuclear (U12-dependent splicing)</Name>
+            <Symbol>RNU4ATAC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RNU4ATAC1</Synonym>
+              <Synonym lang="en">U4atac</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="95178">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000264229</Reference>
+              </ExternalReference>
+              <ExternalReference id="84656">
+                <Source>Genatlas</Source>
+                <Reference>RNU4ATAC</Reference>
+              </ExternalReference>
+              <ExternalReference id="51432">
+                <Source>HGNC</Source>
+                <Reference>34016</Reference>
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+              <ExternalReference id="51433">
+                <Source>OMIM</Source>
+                <Reference>601428</Reference>
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+            <LocusList count="1">
+              <Locus id="14521">
+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22128">
+      <OrphaCode>353281</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353281</ExpertLink>
+      <Name lang="en">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301699[PMID]</SourceOfValidation>
+          <Gene id="15801">
+            <Name lang="en">CREB binding protein</Name>
+            <Symbol>CREBBP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CBP</Synonym>
+              <Synonym lang="en">KAT3A</Synonym>
+              <Synonym lang="en">RTS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005339</Reference>
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+              <ExternalReference id="28254">
+                <Source>Genatlas</Source>
+                <Reference>CREBBP</Reference>
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+              <ExternalReference id="28256">
+                <Source>HGNC</Source>
+                <Reference>2348</Reference>
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+              <ExternalReference id="87974">
+                <Source>IUPHAR</Source>
+                <Reference>2734</Reference>
+              </ExternalReference>
+              <ExternalReference id="28255">
+                <Source>OMIM</Source>
+                <Reference>600140</Reference>
+              </ExternalReference>
+              <ExternalReference id="56896">
+                <Source>Reactome</Source>
+                <Reference>Q92793</Reference>
+              </ExternalReference>
+              <ExternalReference id="32773">
+                <Source>SwissProt</Source>
+                <Reference>Q92793</Reference>
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+            <LocusList count="1">
+              <Locus id="8075">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22129">
+      <OrphaCode>353284</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=353284</ExpertLink>
+      <Name lang="en">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301699[PMID]</SourceOfValidation>
+          <Gene id="15982">
+            <Name lang="en">E1A binding protein p300</Name>
+            <Symbol>EP300</Symbol>
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+              <Synonym lang="en">KAT3B</Synonym>
+              <Synonym lang="en">histone acetyltransferase p300</Synonym>
+              <Synonym lang="en">p300</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100393</Reference>
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+              <ExternalReference id="29104">
+                <Source>Genatlas</Source>
+                <Reference>EP300</Reference>
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+              <ExternalReference id="29106">
+                <Source>HGNC</Source>
+                <Reference>3373</Reference>
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+              <ExternalReference id="87977">
+                <Source>IUPHAR</Source>
+                <Reference>2735</Reference>
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+              <ExternalReference id="29105">
+                <Source>OMIM</Source>
+                <Reference>602700</Reference>
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+              <ExternalReference id="56898">
+                <Source>Reactome</Source>
+                <Reference>Q09472</Reference>
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+              <ExternalReference id="32994">
+                <Source>SwissProt</Source>
+                <Reference>Q09472</Reference>
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+              <Locus id="8411">
+                <GeneLocus>22q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22058">
+      <OrphaCode>352403</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352403</ExpertLink>
+      <Name lang="en">Spectrin-associated autosomal recessive cerebellar ataxia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23236289[PMID]</SourceOfValidation>
+          <Gene id="15554">
+            <Name lang="en">spectrin beta, non-erythrocytic 2</Name>
+            <Symbol>SPTBN2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59815">
+                <Source>Reactome</Source>
+                <Reference>O15020</Reference>
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+              <ExternalReference id="32525">
+                <Source>SwissProt</Source>
+                <Reference>O15020</Reference>
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+              <ExternalReference id="59814">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173898</Reference>
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+              <ExternalReference id="27086">
+                <Source>Genatlas</Source>
+                <Reference>SPTBN2</Reference>
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+              <ExternalReference id="27088">
+                <Source>HGNC</Source>
+                <Reference>11276</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604985</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22100072[PMID]</SourceOfValidation>
+          <Gene id="15972">
+            <Name lang="en">ELOVL fatty acid elongase 4</Name>
+            <Symbol>ELOVL4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT118</Synonym>
+              <Synonym lang="en">cancer/testis antigen 118</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56903">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118402</Reference>
+              </ExternalReference>
+              <ExternalReference id="29058">
+                <Source>Genatlas</Source>
+                <Reference>ELOVL4</Reference>
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+              <ExternalReference id="29060">
+                <Source>HGNC</Source>
+                <Reference>14415</Reference>
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+              <ExternalReference id="29059">
+                <Source>OMIM</Source>
+                <Reference>605512</Reference>
+              </ExternalReference>
+              <ExternalReference id="56904">
+                <Source>Reactome</Source>
+                <Reference>Q9GZR5</Reference>
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+              <ExternalReference id="32984">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZR5</Reference>
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+                <GeneLocus>6q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352328</ExpertLink>
+      <Name lang="en">MEGDEL syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="22183">
+            <Name lang="en">serine active site containing 1</Name>
+            <Symbol>SERAC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ14917</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83885">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122335</Reference>
+              </ExternalReference>
+              <ExternalReference id="79887">
+                <Source>Genatlas</Source>
+                <Reference>SERAC1</Reference>
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+              <ExternalReference id="79885">
+                <Source>HGNC</Source>
+                <Reference>21061</Reference>
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+              <ExternalReference id="79886">
+                <Source>OMIM</Source>
+                <Reference>614725</Reference>
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+              <ExternalReference id="79888">
+                <Source>SwissProt</Source>
+                <Reference>Q96JX3</Reference>
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+                <GeneLocus>6q25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Progressive external ophthalmoplegia-myopathy-emaciation syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23313956[PMID]</SourceOfValidation>
+          <Gene id="22166">
+            <Name lang="en">mitochondrial genome maintenance exonuclease 1</Name>
+            <Symbol>MGME1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DDK1</Synonym>
+              <Synonym lang="en">bA504H3.4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143374">
+                <Source>Reactome</Source>
+                <Reference>Q9BQP7</Reference>
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+              <ExternalReference id="83854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125871</Reference>
+              </ExternalReference>
+              <ExternalReference id="79733">
+                <Source>Genatlas</Source>
+                <Reference>MGME1</Reference>
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+              <ExternalReference id="79731">
+                <Source>HGNC</Source>
+                <Reference>16205</Reference>
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+              <ExternalReference id="79732">
+                <Source>OMIM</Source>
+                <Reference>615076</Reference>
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+              <ExternalReference id="79734">
+                <Source>SwissProt</Source>
+                <Reference>Q9BQP7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <OrphaCode>352530</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352530</ExpertLink>
+      <Name lang="en">Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="18894">
+            <Name lang="en">trafficking protein particle complex subunit 9</Name>
+            <Symbol>TRAPPC9</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">IKBKBBP</Synonym>
+              <Synonym lang="en">KIAA1882</Synonym>
+              <Synonym lang="en">MRT13</Synonym>
+              <Synonym lang="en">NIBP</Synonym>
+              <Synonym lang="en">T1</Synonym>
+              <Synonym lang="en">TRAPP 120 kDa subunit</Synonym>
+              <Synonym lang="en">TRS120</Synonym>
+              <Synonym lang="en">tularik gene 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59504">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167632</Reference>
+              </ExternalReference>
+              <ExternalReference id="43713">
+                <Source>Genatlas</Source>
+                <Reference>TRAPPC9</Reference>
+              </ExternalReference>
+              <ExternalReference id="43714">
+                <Source>HGNC</Source>
+                <Reference>30832</Reference>
+              </ExternalReference>
+              <ExternalReference id="43715">
+                <Source>OMIM</Source>
+                <Reference>611966</Reference>
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+              <ExternalReference id="97285">
+                <Source>Reactome</Source>
+                <Reference>Q96Q05</Reference>
+              </ExternalReference>
+              <ExternalReference id="43716">
+                <Source>SwissProt</Source>
+                <Reference>Q96Q05</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16817">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22078">
+      <OrphaCode>352563</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352563</ExpertLink>
+      <Name lang="en">Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23315540[PMID]</SourceOfValidation>
+          <Gene id="22172">
+            <Name lang="en">mitochondrial ribosomal protein L44</Name>
+            <Symbol>MRPL44</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">39S ribosomal protein L44, mitochondrial</Synonym>
+              <Synonym lang="en">FLJ12701</Synonym>
+              <Synonym lang="en">FLJ13990</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83863">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135900</Reference>
+              </ExternalReference>
+              <ExternalReference id="79799">
+                <Source>Genatlas</Source>
+                <Reference>MRPL44</Reference>
+              </ExternalReference>
+              <ExternalReference id="79797">
+                <Source>HGNC</Source>
+                <Reference>16650</Reference>
+              </ExternalReference>
+              <ExternalReference id="79798">
+                <Source>OMIM</Source>
+                <Reference>611849</Reference>
+              </ExternalReference>
+              <ExternalReference id="97348">
+                <Source>Reactome</Source>
+                <Reference>Q9H9J2</Reference>
+              </ExternalReference>
+              <ExternalReference id="79800">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9J2</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22066">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352479</ExpertLink>
+      <Name lang="en">ISPD-related limb-girdle muscular dystrophy R20</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23288328[PMID]</SourceOfValidation>
+          <Gene id="21160">
+            <Name lang="en">CDP-L-ribitol pyrophosphorylase A</Name>
+            <Symbol>CRPPA</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)</Synonym>
+              <Synonym lang="en">D-ribitol-5-phosphate cytidylyltransferase</Synonym>
+              <Synonym lang="en">IspD</Synonym>
+              <Synonym lang="en">Nip</Synonym>
+              <Synonym lang="en">Notch1-induced protein</Synonym>
+              <Synonym lang="en">hCG_1745121</Synonym>
+              <Synonym lang="en">notch1-induced protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="69540">
+                <Source>OMIM</Source>
+                <Reference>614631</Reference>
+              </ExternalReference>
+              <ExternalReference id="69541">
+                <Source>SwissProt</Source>
+                <Reference>A4D126</Reference>
+              </ExternalReference>
+              <ExternalReference id="83384">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214960</Reference>
+              </ExternalReference>
+              <ExternalReference id="77057">
+                <Source>Genatlas</Source>
+                <Reference>ISPD</Reference>
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+              <ExternalReference id="77058">
+                <Source>HGNC</Source>
+                <Reference>37276</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+      <OrphaCode>352470</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=352470</ExpertLink>
+      <Name lang="en">DNA2-related mitochondrial DNA deletion syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23352259[PMID]</SourceOfValidation>
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+            <Name lang="en">DNA replication helicase/nuclease 2</Name>
+            <Symbol>DNA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0083</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="79085">
+                <Source>Genatlas</Source>
+                <Reference>DNA2</Reference>
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+              <ExternalReference id="79083">
+                <Source>HGNC</Source>
+                <Reference>2939</Reference>
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+              <ExternalReference id="79084">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P51530</Reference>
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+              <ExternalReference id="79086">
+                <Source>SwissProt</Source>
+                <Reference>P51530</Reference>
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+              <ExternalReference id="83797">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138346</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Autism spectrum disorder due to AUTS2 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23332918[PMID]</SourceOfValidation>
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+            <Symbol>AUTS2</Symbol>
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+              <Synonym lang="en">FBRSL2</Synonym>
+              <Synonym lang="en">KIAA0442</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>AUTS2</Reference>
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+                <Reference>14262</Reference>
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+                <Reference>607270</Reference>
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+              <ExternalReference id="36560">
+                <Source>SwissProt</Source>
+                <Reference>Q8WXX7</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8WXX7</Reference>
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+      <Name lang="en">Renal-hepatic-pancreatic dysplasia</Name>
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+              <Synonym lang="en">KIAA2000</Synonym>
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+              <Synonym lang="en">Meckel syndrome, type 7</Synonym>
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+              <Synonym lang="en">cilia and flagella associated protein 31</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000160602</Reference>
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+      <Name lang="en">Microcephaly-capillary malformation syndrome</Name>
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+            <Name lang="en">STAM binding protein</Name>
+            <Symbol>STAMBP</Symbol>
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+              <Synonym lang="en">AMSH</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124356</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>16950</Reference>
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+            <Name lang="en">epidermal growth factor receptor</Name>
+            <Symbol>EGFR</Symbol>
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+              <Synonym lang="en">erb-b2 receptor tyrosine kinase 1</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">a disintegrin and metalloproteinase 17</Synonym>
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+                <Reference>P78536</Reference>
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+      <Name lang="en">Hypoinsulinemic hypoglycemia and body hemihypertrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">AKT serine/threonine kinase 2</Name>
+            <Symbol>AKT2</Symbol>
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+              <Synonym lang="en">PKBß</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105221</Reference>
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+                <Reference>AKT2</Reference>
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+      <Name lang="en">Deficiency in anterior pituitary function-variable immunodeficiency syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">nuclear factor kappa B subunit 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Childhood encephalopathy due to thiamine pyrophosphokinase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">Placental protein 20</Synonym>
+              <Synonym lang="en">Thiamine diphosphokinase</Synonym>
+              <Synonym lang="en">Thiamine kinase</Synonym>
+              <Synonym lang="en">Thiamine pyrophosphokinase 1</Synonym>
+              <Synonym lang="en">placental protein 20</Synonym>
+              <Synonym lang="en">thiamine diphosphokinase</Synonym>
+              <Synonym lang="en">thiamine kinase</Synonym>
+              <Synonym lang="en">thiamine pyrophosphokinase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Dihydrothymine dehydrogenase</Synonym>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="32579">
+                <Source>SwissProt</Source>
+                <Reference>P10600</Reference>
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+              <ExternalReference id="60347">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119699</Reference>
+              </ExternalReference>
+              <ExternalReference id="27345">
+                <Source>Genatlas</Source>
+                <Reference>TGFB3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11769</Reference>
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+              <ExternalReference id="27342">
+                <Source>OMIM</Source>
+                <Reference>190230</Reference>
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+              <ExternalReference id="60348">
+                <Source>Reactome</Source>
+                <Reference>P10600</Reference>
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+              <Locus id="69365">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15892">
+            <Name lang="en">desmocollin 2</Name>
+            <Symbol>DSC2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60345">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134755</Reference>
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+              <ExternalReference id="36985">
+                <Source>Genatlas</Source>
+                <Reference>DSC2</Reference>
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+              <ExternalReference id="28681">
+                <Source>HGNC</Source>
+                <Reference>3036</Reference>
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+                <Source>OMIM</Source>
+                <Reference>125645</Reference>
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+              <ExternalReference id="32903">
+                <Source>SwissProt</Source>
+                <Reference>Q02487</Reference>
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+              <ExternalReference id="126339">
+                <Source>Reactome</Source>
+                <Reference>Q02487</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15894">
+            <Name lang="en">desmoglein 2</Name>
+            <Symbol>DSG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000046604</Reference>
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+              <ExternalReference id="36987">
+                <Source>Genatlas</Source>
+                <Reference>DSG2</Reference>
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+              <ExternalReference id="28689">
+                <Source>HGNC</Source>
+                <Reference>3049</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57453">
+                <Source>Reactome</Source>
+                <Reference>Q14126</Reference>
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+                <Reference>Q14126</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
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+              <ExternalReference id="28695">
+                <Source>Genatlas</Source>
+                <Reference>DSP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
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+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
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+              <ExternalReference id="59099">
+                <Source>Reactome</Source>
+                <Reference>P15924</Reference>
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+              <ExternalReference id="32906">
+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="16283">
+            <Name lang="en">junction plakoglobin</Name>
+            <Symbol>JUP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">DPIII</Synonym>
+              <Synonym lang="en">PDGB</Synonym>
+              <Synonym lang="en">PG</Synonym>
+              <Synonym lang="en">PKGB</Synonym>
+              <Synonym lang="en">desmosomal protein 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>6207</Reference>
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+                <Source>OMIM</Source>
+                <Reference>173325</Reference>
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+              <ExternalReference id="58983">
+                <Source>Reactome</Source>
+                <Reference>P14923</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P14923</Reference>
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+              <ExternalReference id="58982">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173801</Reference>
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+              <ExternalReference id="30578">
+                <Source>Genatlas</Source>
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+                <GeneLocus>17q21.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25041374[PMID]</SourceOfValidation>
+          <Gene id="16343">
+            <Name lang="en">LIM domain binding 3</Name>
+            <Symbol>LDB3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA0613</Synonym>
+              <Synonym lang="en">PDLIM6</Synonym>
+              <Synonym lang="en">Z-band alternatively spliced PDZ motif protein</Synonym>
+              <Synonym lang="en">ZASP</Synonym>
+              <Synonym lang="en">cypher</Synonym>
+              <Synonym lang="en">oracle</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122367</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>15710</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605906</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75112</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23736219[PMID]_22199124[PMID]</SourceOfValidation>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
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+                <Reference>P02545</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="17348">
+            <Name lang="en">transmembrane protein 43</Name>
+            <Symbol>TMEM43</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586G1919</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143894">
+                <Source>Reactome</Source>
+                <Reference>Q9BTV4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170876</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TMEM43</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28472</Reference>
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+                <Reference>612048</Reference>
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+          <SourceOfValidation>23136403[PMID]</SourceOfValidation>
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+            <Name lang="en">catenin alpha 3</Name>
+            <Symbol>CTNNA3</Symbol>
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+              <Synonym lang="en">VR22</Synonym>
+              <Synonym lang="en">alpha-T-catenin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9UI47</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183230</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTNNA3</Reference>
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+                <Reference>2511</Reference>
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+            <Name lang="en">cadherin 2</Name>
+            <Symbol>CDH2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD325</Synonym>
+              <Synonym lang="en">CDHN</Synonym>
+              <Synonym lang="en">N-cadherin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170558</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CDH2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P19022</Reference>
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+                <Reference>114020</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=293899</ExpertLink>
+      <Name lang="en">Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">titin</Name>
+            <Symbol>TTN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMH9</Synonym>
+              <Synonym lang="en">CMPD4</Synonym>
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+              <Synonym lang="en">LGMD2J</Synonym>
+              <Synonym lang="en">MYLK5</Synonym>
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+                <Reference>ENSG00000155657</Reference>
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+                <Reference>12403</Reference>
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+            <Symbol>TMEM43</Symbol>
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+                <Reference>28472</Reference>
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+              <Synonym lang="en">MGC26194</Synonym>
+              <Synonym lang="en">VR22</Synonym>
+              <Synonym lang="en">alpha-T-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="85338">
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+                <Reference>Q9UI47</Reference>
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+              <ExternalReference id="85388">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183230</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTNNA3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2511</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607667</Reference>
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+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15894">
+            <Name lang="en">desmoglein 2</Name>
+            <Symbol>DSG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000046604</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DSG2</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q14126</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15104">
+            <Name lang="en">plakophilin 2</Name>
+            <Symbol>PKP2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15238">
+            <Name lang="en">ryanodine receptor 2</Name>
+            <Symbol>RYR2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ARVC2</Synonym>
+              <Synonym lang="en">VTSIP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58632">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198626</Reference>
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+                <Reference>10484</Reference>
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+                <Reference>180902</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q92736</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15608">
+            <Name lang="en">transforming growth factor beta 3</Name>
+            <Symbol>TGFB3</Symbol>
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+              <Synonym lang="en">prepro-transforming growth factor beta-3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>P10600</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">junction plakoglobin</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000173801</Reference>
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+            <Name lang="en">LIM domain binding 3</Name>
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+              <Synonym lang="en">Z-band alternatively spliced PDZ motif protein</Synonym>
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+              <Synonym lang="en">cypher</Synonym>
+              <Synonym lang="en">oracle</Synonym>
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+            <Name lang="en">lamin A/C</Name>
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+      <Name lang="en">Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</Name>
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+            <Name lang="en">titin</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8WZ42</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WZ42</Reference>
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+              <ExternalReference id="57480">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TTN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12403</Reference>
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+                <Reference>2265</Reference>
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+                <Source>OMIM</Source>
+                <Reference>188840</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="17348">
+            <Name lang="en">transmembrane protein 43</Name>
+            <Symbol>TMEM43</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586G1919</Synonym>
+              <Synonym lang="en">LUMA</Synonym>
+              <Synonym lang="en">MGC3222</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Reactome</Source>
+                <Reference>Q9BTV4</Reference>
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+              <ExternalReference id="59837">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170876</Reference>
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+              <ExternalReference id="36947">
+                <Source>Genatlas</Source>
+                <Reference>TMEM43</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28472</Reference>
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+              <ExternalReference id="37586">
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+                <Reference>612048</Reference>
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+                <Reference>Q9BTV4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15238">
+            <Name lang="en">ryanodine receptor 2</Name>
+            <Symbol>RYR2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ARVC2</Synonym>
+              <Synonym lang="en">VTSIP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198626</Reference>
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+              <ExternalReference id="25559">
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+                <Reference>RYR2</Reference>
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+                <Reference>180902</Reference>
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+              <ExternalReference id="82767">
+                <Source>Reactome</Source>
+                <Reference>Q92736</Reference>
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+                <Source>SwissProt</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15608">
+            <Name lang="en">transforming growth factor beta 3</Name>
+            <Symbol>TGFB3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prepro-transforming growth factor beta-3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+              <ExternalReference id="60347">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119699</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11769</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190230</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="15894">
+            <Name lang="en">desmoglein 2</Name>
+            <Symbol>DSG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CDHF5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000046604</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="57453">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14126</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000096696</Reference>
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+              <ExternalReference id="28695">
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+                <Source>Reactome</Source>
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+            <Name lang="en">junction plakoglobin</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Reference>ENSG00000173801</Reference>
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+              <Synonym lang="en">ZASP</Synonym>
+              <Synonym lang="en">cypher</Synonym>
+              <Synonym lang="en">oracle</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">lamin A/C</Name>
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+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <Gene id="22598">
+            <Name lang="en">catenin alpha 3</Name>
+            <Symbol>CTNNA3</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183230</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=293864</ExpertLink>
+      <Name lang="en">Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185002</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184374</Reference>
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+                <Reference>Q9Y6Z7</Reference>
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+                <Reference>COLEC10</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21258343[PMID]</SourceOfValidation>
+          <Gene id="19721">
+            <Name lang="en">MBL associated serine protease 1</Name>
+            <Symbol>MASP1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">C4/C2 activating component of Ra-reactive factor</Synonym>
+              <Synonym lang="en">MAP-1</Synonym>
+              <Synonym lang="en">MASP</Synonym>
+              <Synonym lang="en">MASP-3</Synonym>
+              <Synonym lang="en">Map44</Synonym>
+              <Synonym lang="en">mannose-binding lectin-associated serine protease 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="50422">
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+                <Reference>P48740</Reference>
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+              <ExternalReference id="58206">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127241</Reference>
+              </ExternalReference>
+              <ExternalReference id="50420">
+                <Source>Genatlas</Source>
+                <Reference>MASP1</Reference>
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+              <ExternalReference id="50421">
+                <Source>HGNC</Source>
+                <Reference>6901</Reference>
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+              <ExternalReference id="50423">
+                <Source>OMIM</Source>
+                <Reference>600521</Reference>
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+              <ExternalReference id="58207">
+                <Source>Reactome</Source>
+                <Reference>P48740</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3q27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21258343[PMID]</SourceOfValidation>
+          <Gene id="19845">
+            <Name lang="en">collectin subfamily member 11</Name>
+            <Symbol>COLEC11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CL-11</Synonym>
+              <Synonym lang="en">CL-K1</Synonym>
+              <Synonym lang="en">Collectin K1</Synonym>
+              <Synonym lang="en">MGC3279</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58315">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118004</Reference>
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+              <ExternalReference id="50862">
+                <Source>Genatlas</Source>
+                <Reference>COLEC11</Reference>
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+              <ExternalReference id="50860">
+                <Source>HGNC</Source>
+                <Reference>17213</Reference>
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+              <ExternalReference id="50861">
+                <Source>OMIM</Source>
+                <Reference>612502</Reference>
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+              <ExternalReference id="83197">
+                <Source>Reactome</Source>
+                <Reference>Q9BWP8</Reference>
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+              <ExternalReference id="50863">
+                <Source>SwissProt</Source>
+                <Reference>Q9BWP8</Reference>
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+                <GeneLocus>2p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="20874">
+      <OrphaCode>293822</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=293822</ExpertLink>
+      <Name lang="en">MITF-related melanoma and renal cell carcinoma predisposition syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22480646[PMID]_22012259[PMID]</SourceOfValidation>
+          <Gene id="16402">
+            <Name lang="en">melanocyte inducing transcription factor</Name>
+            <Symbol>MITF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MI</Synonym>
+              <Synonym lang="en">bHLHe32</Synonym>
+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187098</Reference>
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+              <ExternalReference id="31143">
+                <Source>Genatlas</Source>
+                <Reference>MITF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7105</Reference>
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+                <Source>OMIM</Source>
+                <Reference>156845</Reference>
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+              <ExternalReference id="98067">
+                <Source>Reactome</Source>
+                <Reference>O75030</Reference>
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+              <ExternalReference id="33466">
+                <Source>SwissProt</Source>
+                <Reference>O75030</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="20875">
+      <OrphaCode>293825</OrphaCode>
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+      <Name lang="en">Congenital dyserythropoietic anemia type IV</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="19340">
+            <Name lang="en">KLF transcription factor 1</Name>
+            <Symbol>KLF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EKLF</Synonym>
+              <Synonym lang="en">erythroid Kruppel-like factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58652">
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+                <Reference>ENSG00000105610</Reference>
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+              <ExternalReference id="48121">
+                <Source>Genatlas</Source>
+                <Reference>KLF1</Reference>
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+              <ExternalReference id="48122">
+                <Source>HGNC</Source>
+                <Reference>6345</Reference>
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+              <ExternalReference id="48123">
+                <Source>OMIM</Source>
+                <Reference>600599</Reference>
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+              <ExternalReference id="48124">
+                <Source>SwissProt</Source>
+                <Reference>Q13351</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20867">
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+      <Name lang="en">Blepharophimosis-intellectual disability syndrome, MKB type</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mediator complex subunit 12</Name>
+            <Symbol>MED12</Symbol>
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+              <Synonym lang="en">CAGH45</Synonym>
+              <Synonym lang="en">HOPA</Synonym>
+              <Synonym lang="en">KIAA0192</Synonym>
+              <Synonym lang="en">Kohtalo homolog</Synonym>
+              <Synonym lang="en">Kto</Synonym>
+              <Synonym lang="en">OKS</Synonym>
+              <Synonym lang="en">OPA1</Synonym>
+              <Synonym lang="en">TRAP230</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184634</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q93074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q93074</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">PYCR1-related De Barsy syndrome</Name>
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+            <Symbol>PYCR1</Symbol>
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+              <Synonym lang="en">P5C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183010</Reference>
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+                <Reference>PYCR1</Reference>
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+                <Reference>9721</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P32322</Reference>
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+      <Name lang="en">Hypermethioninemia due to glycine N-methyltransferase deficiency</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196517</Reference>
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+              <Synonym lang="en">nonketotic hyperglycinemia</Synonym>
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+            <Symbol>GLDC</Symbol>
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+              <Synonym lang="en">glycine cleavage system protein P</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Vitamin B12-unresponsive methylmalonic acidemia type mut0</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16489">
+            <Name lang="en">methylmalonyl-CoA mutase</Name>
+            <Symbol>MMUT</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Mitochondrial membrane protein-associated neurodegeneration</Name>
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+            <Symbol>C19ORF12</Symbol>
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+              <Synonym lang="en">MPAN</Synonym>
+              <Synonym lang="en">NBIA4</Synonym>
+              <Synonym lang="en">membrane protein-associated neurodegeneration</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency</Name>
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+      <Name lang="en">BAP1-related tumor predisposition syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">elongation factor like GTPase 1</Name>
+            <Symbol>EFL1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FAM42A</Synonym>
+              <Synonym lang="en">FLJ13119</Synonym>
+              <Synonym lang="en">HsT19294</Synonym>
+              <Synonym lang="en">RIA1</Synonym>
+              <Synonym lang="en">ribosome assembly 1 homolog (yeast)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="145766">
+                <Source>HGNC</Source>
+                <Reference>25789</Reference>
+              </ExternalReference>
+              <ExternalReference id="145767">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140598</Reference>
+              </ExternalReference>
+              <ExternalReference id="145768">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z2Z2</Reference>
+              </ExternalReference>
+              <ExternalReference id="145769">
+                <Source>OMIM</Source>
+                <Reference>617538</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40693">
+                <GeneLocus>15q25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28972538[PMID]</SourceOfValidation>
+          <Gene id="26096">
+            <Name lang="en">signal recognition particle 54</Name>
+            <Symbol>SRP54</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="151603">
+                <Source>HGNC</Source>
+                <Reference>11301</Reference>
+              </ExternalReference>
+              <ExternalReference id="151604">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100883</Reference>
+              </ExternalReference>
+              <ExternalReference id="151605">
+                <Source>SwissProt</Source>
+                <Reference>P61011</Reference>
+              </ExternalReference>
+              <ExternalReference id="151606">
+                <Source>OMIM</Source>
+                <Reference>604857</Reference>
+              </ExternalReference>
+              <ExternalReference id="151607">
+                <Source>Genatlas</Source>
+                <Reference>SRP54</Reference>
+              </ExternalReference>
+              <ExternalReference id="151608">
+                <Source>Reactome</Source>
+                <Reference>P61011</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="43319">
+                <GeneLocus>14q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28062395[PMID]</SourceOfValidation>
+          <Gene id="25355">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C21</Name>
+            <Symbol>DNAJC21</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DNAJA5</Synonym>
+              <Synonym lang="en">GS3</Synonym>
+              <Synonym lang="en">JJJ1</Synonym>
+              <Synonym lang="en">JJJ1 DnaJ domain protein homolog (S. cerevisiae)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="142425">
+                <Source>HGNC</Source>
+                <Reference>27030</Reference>
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+              <ExternalReference id="142426">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168724</Reference>
+              </ExternalReference>
+              <ExternalReference id="142427">
+                <Source>OMIM</Source>
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+              <ExternalReference id="142428">
+                <Source>SwissProt</Source>
+                <Reference>Q5F1R6</Reference>
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+              <ExternalReference id="142429">
+                <Source>Genatlas</Source>
+                <Reference>DNAJC21</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37139">
+                <GeneLocus>5p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="20837">
+      <OrphaCode>293150</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=293150</ExpertLink>
+      <Name lang="en">Familial clubfoot due to PITX1 point mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18950742[PMID]</SourceOfValidation>
+          <Gene id="18455">
+            <Name lang="en">paired like homeodomain 1</Name>
+            <Symbol>PITX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">POTX</Synonym>
+              <Synonym lang="en">PTX1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143891">
+                <Source>Reactome</Source>
+                <Reference>P78337</Reference>
+              </ExternalReference>
+              <ExternalReference id="60286">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069011</Reference>
+              </ExternalReference>
+              <ExternalReference id="42371">
+                <Source>Genatlas</Source>
+                <Reference>PITX1</Reference>
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+              <ExternalReference id="42372">
+                <Source>HGNC</Source>
+                <Reference>9004</Reference>
+              </ExternalReference>
+              <ExternalReference id="42373">
+                <Source>OMIM</Source>
+                <Reference>602149</Reference>
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+              <ExternalReference id="42374">
+                <Source>SwissProt</Source>
+                <Reference>P78337</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="5541">
+      <OrphaCode>741</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=741</ExpertLink>
+      <Name lang="en">Familial mitral valve prolapse</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26258302[PMID]</SourceOfValidation>
+          <Gene id="22551">
+            <Name lang="en">dachsous cadherin-related 1</Name>
+            <Symbol>DCHS1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDHR6</Synonym>
+              <Synonym lang="en">FIB1</Synonym>
+              <Synonym lang="en">FLJ11790</Synonym>
+              <Synonym lang="en">KIAA1773</Synonym>
+              <Synonym lang="en">cadherin-related family member 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="84099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166341</Reference>
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+              <ExternalReference id="82709">
+                <Source>Genatlas</Source>
+                <Reference>DCHS1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13681</Reference>
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+              <ExternalReference id="82708">
+                <Source>OMIM</Source>
+                <Reference>603057</Reference>
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+              <ExternalReference id="82710">
+                <Source>SwissProt</Source>
+                <Reference>Q96JQ0</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11p15.4</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20836">
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+      <Name lang="en">Familial clubfoot due to 5q31 microdeletion</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="18455">
+            <Name lang="en">paired like homeodomain 1</Name>
+            <Symbol>PITX1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143891">
+                <Source>Reactome</Source>
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+              <ExternalReference id="60286">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069011</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9004</Reference>
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+              <ExternalReference id="42373">
+                <Source>OMIM</Source>
+                <Reference>602149</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P78337</Reference>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20839">
+      <OrphaCode>293168</OrphaCode>
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+      <Name lang="en">Infantile-onset ascending hereditary spastic paralysis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24315819[PMID]</SourceOfValidation>
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+            <Name lang="en">alsin Rho guanine nucleotide exchange factor ALS2</Name>
+            <Symbol>ALS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Alsin</Synonym>
+              <Synonym lang="en">alsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56787">
+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>ALS2</Reference>
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+                <Reference>443</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96Q42</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="20838">
+      <OrphaCode>293165</OrphaCode>
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+      <Name lang="en">Skin fragility-woolly hair-palmoplantar keratoderma syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11841538[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
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+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DSP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
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+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=428</ExpertLink>
+      <Name lang="en">Autosomal dominant hypocalcemia</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15401">
+            <Name lang="en">calcium sensing receptor</Name>
+            <Symbol>CASR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FHH</Synonym>
+              <Synonym lang="en">GPRC2A</Synonym>
+              <Synonym lang="en">NSHPT</Synonym>
+              <Synonym lang="en">severe neonatal hyperparathyroidism</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57351">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036828</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CASR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1514</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>54</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601199</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P41180</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23802516[PMID]</SourceOfValidation>
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+            <Name lang="en">G protein subunit alpha 11</Name>
+            <Symbol>GNA11</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">FBH2</Synonym>
+              <Synonym lang="en">FHH2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P29992</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088256</Reference>
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+              <ExternalReference id="80664">
+                <Source>Genatlas</Source>
+                <Reference>GNA11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4379</Reference>
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+                <Source>OMIM</Source>
+                <Reference>139313</Reference>
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+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="20841">
+      <OrphaCode>293181</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=293181</ExpertLink>
+      <Name lang="en">Malignant migrating focal seizures of infancy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31618474[PMID]</SourceOfValidation>
+          <Gene id="15252">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">HBSCII</Synonym>
+              <Synonym lang="en">Nav1.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136531</Reference>
+              </ExternalReference>
+              <ExternalReference id="36262">
+                <Source>Genatlas</Source>
+                <Reference>SCN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25627">
+                <Source>HGNC</Source>
+                <Reference>10588</Reference>
+              </ExternalReference>
+              <ExternalReference id="82770">
+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
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+              <ExternalReference id="25626">
+                <Source>OMIM</Source>
+                <Reference>182390</Reference>
+              </ExternalReference>
+              <ExternalReference id="57765">
+                <Source>Reactome</Source>
+                <Reference>Q99250</Reference>
+              </ExternalReference>
+              <ExternalReference id="33810">
+                <Source>SwissProt</Source>
+                <Reference>Q99250</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7065">
+                <GeneLocus>2q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31618474[PMID]</SourceOfValidation>
+          <Gene id="16296">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 2</Name>
+            <Symbol>KCNQ2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BFNC</Synonym>
+              <Synonym lang="en">ENB1</Synonym>
+              <Synonym lang="en">HNSPC</Synonym>
+              <Synonym lang="en">KCNA11</Synonym>
+              <Synonym lang="en">Kv7.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075043</Reference>
+              </ExternalReference>
+              <ExternalReference id="30645">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30643">
+                <Source>HGNC</Source>
+                <Reference>6296</Reference>
+              </ExternalReference>
+              <ExternalReference id="82971">
+                <Source>IUPHAR</Source>
+                <Reference>561</Reference>
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+              <ExternalReference id="30642">
+                <Source>OMIM</Source>
+                <Reference>602235</Reference>
+              </ExternalReference>
+              <ExternalReference id="57762">
+                <Source>Reactome</Source>
+                <Reference>O43526</Reference>
+              </ExternalReference>
+              <ExternalReference id="33361">
+                <Source>SwissProt</Source>
+                <Reference>O43526</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9009">
+                <GeneLocus>20q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31618474[PMID]</SourceOfValidation>
+          <Gene id="19197">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class A</Name>
+            <Symbol>PIGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPI3</Synonym>
+              <Synonym lang="en">paroxysmal nocturnal hemoglobinuria</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165195</Reference>
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+              <ExternalReference id="46177">
+                <Source>Genatlas</Source>
+                <Reference>PIGA</Reference>
+              </ExternalReference>
+              <ExternalReference id="46178">
+                <Source>HGNC</Source>
+                <Reference>8957</Reference>
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+              <ExternalReference id="46180">
+                <Source>OMIM</Source>
+                <Reference>311770</Reference>
+              </ExternalReference>
+              <ExternalReference id="56711">
+                <Source>Reactome</Source>
+                <Reference>P37287</Reference>
+              </ExternalReference>
+              <ExternalReference id="46179">
+                <Source>SwissProt</Source>
+                <Reference>P37287</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp22.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21555645[PMID]_20301494[PMID]</SourceOfValidation>
+          <Gene id="15250">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 1</Name>
+            <Symbol>SCN1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEFSP2</Synonym>
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">NAC1</Synonym>
+              <Synonym lang="en">Nav1.1</Synonym>
+              <Synonym lang="en">SMEI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144285</Reference>
+              </ExternalReference>
+              <ExternalReference id="36261">
+                <Source>Genatlas</Source>
+                <Reference>SCN1A</Reference>
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+              <ExternalReference id="25618">
+                <Source>HGNC</Source>
+                <Reference>10585</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>578</Reference>
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+              <ExternalReference id="25617">
+                <Source>OMIM</Source>
+                <Reference>182389</Reference>
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+              <ExternalReference id="57930">
+                <Source>Reactome</Source>
+                <Reference>P35498</Reference>
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+              <ExternalReference id="33808">
+                <Source>SwissProt</Source>
+                <Reference>P35498</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24596948[PMID]</SourceOfValidation>
+          <Gene id="15313">
+            <Name lang="en">solute carrier family 25 member 22</Name>
+            <Symbol>SLC25A22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EIEE3</Synonym>
+              <Synonym lang="en">FLJ13044</Synonym>
+              <Synonym lang="en">GC1</Synonym>
+              <Synonym lang="en">NET44</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126320">
+                <Source>Reactome</Source>
+                <Reference>Q9H936</Reference>
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+              <ExternalReference id="193538">
+                <Source>IUPHAR</Source>
+                <Reference>1058</Reference>
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+              <ExternalReference id="57766">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177542</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC25A22</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19954</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609302</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H936</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23526554[PMID]</SourceOfValidation>
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+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
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+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Reference>Q9ULP9</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22690784[PMID]</SourceOfValidation>
+          <Gene id="19817">
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+              <Synonym lang="en">KIAA0581</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23086397[PMID]</SourceOfValidation>
+          <Gene id="21573">
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+              <Synonym lang="en">Slo2.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9H2X9</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Pleomorphic rhabdomyosarcoma</Name>
+      <DisorderType id="21450">
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+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
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+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34166060[PMID]</SourceOfValidation>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
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+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196712</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P21359</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">SRY-box transcription factor 9</Name>
+            <Symbol>SOX9</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000125398</Reference>
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+            <Name lang="en">sex determining region Y</Name>
+            <Symbol>SRY</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184895</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</Name>
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+            <Name lang="en">elastase, neutrophil expressed</Name>
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+              <Synonym lang="en">PMN-E</Synonym>
+              <Synonym lang="en">leukocyte elastase</Synonym>
+              <Synonym lang="en">medullasin</Synonym>
+              <Synonym lang="en">neutrophil elastase</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16344">
+            <Name lang="en">lactate dehydrogenase A</Name>
+            <Symbol>LDHA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000134333</Reference>
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+                <Reference>6535</Reference>
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+                <Reference>150000</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00338</Reference>
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+                <Reference>P00338</Reference>
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+      <Name lang="en">Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>150100</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P07195</Reference>
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+      <Name lang="en">Marfan syndrome type 2</Name>
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+            <Name lang="en">transforming growth factor beta receptor 2</Name>
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+              <Synonym lang="en">TBR-ii</Synonym>
+              <Synonym lang="en">TBRII</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11773</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1795</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Marfan syndrome type 1</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20719">
+      <OrphaCode>289380</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=289380</ExpertLink>
+      <Name lang="en">Myosclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18852439[PMID]</SourceOfValidation>
+          <Gene id="15779">
+            <Name lang="en">collagen type VI alpha 2 chain</Name>
+            <Symbol>COL6A2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142173</Reference>
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+              <ExternalReference id="28147">
+                <Source>Genatlas</Source>
+                <Reference>COL6A2</Reference>
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+              <ExternalReference id="28149">
+                <Source>HGNC</Source>
+                <Reference>2212</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120240</Reference>
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+              <ExternalReference id="57189">
+                <Source>Reactome</Source>
+                <Reference>P12110</Reference>
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+              <ExternalReference id="32751">
+                <Source>SwissProt</Source>
+                <Reference>P12110</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20707">
+      <OrphaCode>289290</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=289290</ExpertLink>
+      <Name lang="en">Hypermethioninemia encephalopathy due to adenosine kinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21963049[PMID]</SourceOfValidation>
+          <Gene id="20708">
+            <Name lang="en">adenosine kinase</Name>
+            <Symbol>ADK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AK</Synonym>
+              <Synonym lang="en">Adenosine 5'-phosphotransferase</Synonym>
+              <Synonym lang="en">adenosine 5'-phosphotransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P55263</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156110</Reference>
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+              <ExternalReference id="55680">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>257</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1231</Reference>
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+      <OrphaCode>289266</OrphaCode>
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+      <Name lang="en">Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20890276[PMID]</SourceOfValidation>
+          <Gene id="20706">
+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2A</Name>
+            <Symbol>GRIN2A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GluN2A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183454</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GRIN2A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4585</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>456</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138253</Reference>
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+              <ExternalReference id="60609">
+                <Source>Reactome</Source>
+                <Reference>Q12879</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12879</Reference>
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+      <Name lang="en">Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency</Name>
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+            <Name lang="en">aldehyde dehydrogenase 6 family member A1</Name>
+            <Symbol>ALDH6A1</Symbol>
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+              <Synonym lang="en">malonate-semialdehyde dehydrogenase (acetylating)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119711</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ALDH6A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7179</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q02252</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q02252</Reference>
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+      <Name lang="en">Combined malonic and methylmalonic acidemia</Name>
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+            <Symbol>PXDN</Symbol>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal recessive hypophosphatemic rickets</Name>
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+            <Name lang="en">dentin matrix acidic phosphoprotein 1</Name>
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+                <Reference>ENSG00000152592</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15981">
+            <Name lang="en">ectonucleotide pyrophosphatase/phosphodiesterase 1</Name>
+            <Symbol>ENPP1</Symbol>
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+              <Synonym lang="en">PCA1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000197594</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=289157</ExpertLink>
+      <Name lang="en">Hypocalcemic vitamin D-dependent rickets</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cytochrome P450 family 27 subfamily B member 1</Name>
+            <Symbol>CYP27B1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">1alpha(OH)ase</Synonym>
+              <Synonym lang="en">25-Hydroxyvitamin D3 1alpha-hydroxylase</Synonym>
+              <Synonym lang="en">CYP1</Synonym>
+              <Synonym lang="en">Calcidiol 1-monooxygenase</Synonym>
+              <Synonym lang="en">P450c1</Synonym>
+              <Synonym lang="en">VDDR I</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193628">
+                <Source>IUPHAR</Source>
+                <Reference>1370</Reference>
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+              <ExternalReference id="60605">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111012</Reference>
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+              <ExternalReference id="28444">
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+                <Reference>CYP27B1</Reference>
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+                <Reference>2606</Reference>
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+                <Reference>609506</Reference>
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+              <ExternalReference id="60606">
+                <Source>Reactome</Source>
+                <Reference>O15528</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15528</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15842">
+            <Name lang="en">cytochrome P450 family 2 subfamily R member 1</Name>
+            <Symbol>CYP2R1</Symbol>
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+              <Synonym lang="en">Vitamin D 25-hydroxylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186104</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20580</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608713</Reference>
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+              <ExternalReference id="60604">
+                <Source>Reactome</Source>
+                <Reference>Q6VVX0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6VVX0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Syndromic recessive X-linked ichthyosis</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">steroid sulfatase</Name>
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+              <Synonym lang="en">steryl-sulfatase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56727">
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+                <Reference>ENSG00000101846</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08842</Reference>
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+                <Reference>P08842</Reference>
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+      <Name lang="en">Congenital reticular ichthyosiform erythroderma</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19890349[PMID]</SourceOfValidation>
+          <Gene id="15503">
+            <Name lang="en">arachidonate lipoxygenase 3</Name>
+            <Symbol>ALOXE3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">E-LOX</Synonym>
+              <Synonym lang="en">Epidermal lipoxygenase-3</Synonym>
+              <Synonym lang="en">eLOX3</Synonym>
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+          <SourceOfValidation>12542526[PMID]_19890349[PMID]</SourceOfValidation>
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+            <Name lang="en">transglutaminase 1</Name>
+            <Symbol>TGM1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Familial progressive hyper- and hypopigmentation</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>21572413[PMID]</SourceOfValidation>
+          <Gene id="20489">
+            <Name lang="en">laminin subunit gamma 3</Name>
+            <Symbol>LAMC3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp434E202</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60568">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000050555</Reference>
+              </ExternalReference>
+              <ExternalReference id="54177">
+                <Source>Genatlas</Source>
+                <Reference>LAMC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="54175">
+                <Source>HGNC</Source>
+                <Reference>6494</Reference>
+              </ExternalReference>
+              <ExternalReference id="54176">
+                <Source>OMIM</Source>
+                <Reference>604349</Reference>
+              </ExternalReference>
+              <ExternalReference id="60569">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6N6</Reference>
+              </ExternalReference>
+              <ExternalReference id="54178">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6N6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14523">
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="20491">
+      <OrphaCode>280654</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=280654</ExpertLink>
+      <Name lang="en">Autosomal recessive nail dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21665003[PMID]</SourceOfValidation>
+          <Gene id="20492">
+            <Name lang="en">frizzled class receptor 6</Name>
+            <Symbol>FZD6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hfz6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60571">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164930</Reference>
+              </ExternalReference>
+              <ExternalReference id="54188">
+                <Source>Genatlas</Source>
+                <Reference>FZD6</Reference>
+              </ExternalReference>
+              <ExternalReference id="54186">
+                <Source>HGNC</Source>
+                <Reference>4044</Reference>
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+              <ExternalReference id="83215">
+                <Source>IUPHAR</Source>
+                <Reference>234</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603409</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60353</Reference>
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+                <Reference>O60353</Reference>
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+      <Name lang="en">Acrodysostosis with multiple hormone resistance</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>21651393[PMID]</SourceOfValidation>
+          <Gene id="15139">
+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit alpha</Name>
+            <Symbol>PRKAR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNC1</Synonym>
+              <Synonym lang="en">Carney complex type 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108946</Reference>
+              </ExternalReference>
+              <ExternalReference id="25095">
+                <Source>Genatlas</Source>
+                <Reference>PRKAR1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25097">
+                <Source>HGNC</Source>
+                <Reference>9388</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1472</Reference>
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+              <ExternalReference id="25096">
+                <Source>OMIM</Source>
+                <Reference>188830</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P10644</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10644</Reference>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22464250[PMID]_22464252[PMID]</SourceOfValidation>
+          <Gene id="21092">
+            <Name lang="en">phosphodiesterase 4D</Name>
+            <Symbol>PDE4D</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
+              <Synonym lang="en">cAMP-specific 3',5'-cyclic phosphodiesterase 4D</Synonym>
+              <Synonym lang="en">phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113448</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PDE4D</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8783</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83359">
+                <Source>Reactome</Source>
+                <Reference>Q08499</Reference>
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+      <Name lang="en">Bullous diffuse cutaneous mastocytosis</Name>
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+            <Symbol>KIT</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21620353[PMID]</SourceOfValidation>
+          <Gene id="20287">
+            <Name lang="en">adaptor related protein complex 4 subunit sigma 1</Name>
+            <Symbol>AP4S1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AP47B</Synonym>
+              <Synonym lang="en">CLA20</Synonym>
+              <Synonym lang="en">SPG52</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="52254">
+                <Source>Genatlas</Source>
+                <Reference>AP4S1</Reference>
+              </ExternalReference>
+              <ExternalReference id="52252">
+                <Source>HGNC</Source>
+                <Reference>575</Reference>
+              </ExternalReference>
+              <ExternalReference id="52253">
+                <Source>OMIM</Source>
+                <Reference>607243</Reference>
+              </ExternalReference>
+              <ExternalReference id="97310">
+                <Source>Reactome</Source>
+                <Reference>Q9Y587</Reference>
+              </ExternalReference>
+              <ExternalReference id="52255">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y587</Reference>
+              </ExternalReference>
+              <ExternalReference id="60582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100478</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16867">
+                <GeneLocus>14q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="20578">
+      <OrphaCode>284149</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284149</ExpertLink>
+      <Name lang="en">Craniosynostosis-dental anomalies</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21741611[PMID]</SourceOfValidation>
+          <Gene id="20579">
+            <Name lang="en">interleukin 11 receptor subunit alpha</Name>
+            <Symbol>IL11RA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60589">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137070</Reference>
+              </ExternalReference>
+              <ExternalReference id="54621">
+                <Source>Genatlas</Source>
+                <Reference>IL11RA</Reference>
+              </ExternalReference>
+              <ExternalReference id="54619">
+                <Source>HGNC</Source>
+                <Reference>5967</Reference>
+              </ExternalReference>
+              <ExternalReference id="83223">
+                <Source>IUPHAR</Source>
+                <Reference>1709</Reference>
+              </ExternalReference>
+              <ExternalReference id="54620">
+                <Source>OMIM</Source>
+                <Reference>600939</Reference>
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+              <ExternalReference id="98094">
+                <Source>Reactome</Source>
+                <Reference>Q14626</Reference>
+              </ExternalReference>
+              <ExternalReference id="54622">
+                <Source>SwissProt</Source>
+                <Reference>Q14626</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="20576">
+      <OrphaCode>284139</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284139</ExpertLink>
+      <Name lang="en">Larsen-like syndrome, B3GAT3 type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21763480[PMID]</SourceOfValidation>
+          <Gene id="20577">
+            <Name lang="en">beta-1,3-glucuronyltransferase 3</Name>
+            <Symbol>B3GAT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GlcAT-I</Synonym>
+              <Synonym lang="en">galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3</Synonym>
+              <Synonym lang="en">glucuronosyltransferase I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149541</Reference>
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+              <ExternalReference id="54613">
+                <Source>Genatlas</Source>
+                <Reference>B3GAT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="54611">
+                <Source>HGNC</Source>
+                <Reference>923</Reference>
+              </ExternalReference>
+              <ExternalReference id="54612">
+                <Source>OMIM</Source>
+                <Reference>606374</Reference>
+              </ExternalReference>
+              <ExternalReference id="83222">
+                <Source>Reactome</Source>
+                <Reference>O94766</Reference>
+              </ExternalReference>
+              <ExternalReference id="54614">
+                <Source>SwissProt</Source>
+                <Reference>O94766</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="20582">
+      <OrphaCode>284169</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284169</ExpertLink>
+      <Name lang="en">Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>21522184[PMID]_26264232[PMID]</SourceOfValidation>
+          <Gene id="25031">
+            <Name lang="en">WW domain containing adaptor with coiled-coil</Name>
+            <Symbol>WAC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BM-016</Synonym>
+              <Synonym lang="en">FLJ31290</Synonym>
+              <Synonym lang="en">MGC10753</Synonym>
+              <Synonym lang="en">PRO1741</Synonym>
+              <Synonym lang="en">Wwp4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="133657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095787</Reference>
+              </ExternalReference>
+              <ExternalReference id="135080">
+                <Source>Reactome</Source>
+                <Reference>Q9BTA9</Reference>
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+              <ExternalReference id="131848">
+                <Source>HGNC</Source>
+                <Reference>17327</Reference>
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+              <ExternalReference id="133295">
+                <Source>SwissProt</Source>
+                <Reference>Q9BTA9</Reference>
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+              <ExternalReference id="132566">
+                <Source>OMIM</Source>
+                <Reference>615049</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>WAC</Reference>
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+                <GeneLocus>10p12.1</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="20587">
+      <OrphaCode>284247</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284247</ExpertLink>
+      <Name lang="en">Familial retinal arterial macroaneurysm</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21835307[PMID]</SourceOfValidation>
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+            <Name lang="en">insulin like growth factor binding protein 7</Name>
+            <Symbol>IGFBP7</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FSTL2</Synonym>
+              <Synonym lang="en">IGFBP-7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163453</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IGFBP7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5476</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q16270</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16270</Reference>
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+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2O</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301462[PMID]_21820100[PMID]</SourceOfValidation>
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+            <Name lang="en">dynein cytoplasmic 1 heavy chain 1</Name>
+            <Symbol>DYNC1H1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CMT2O</Synonym>
+              <Synonym lang="en">DHC1</Synonym>
+              <Synonym lang="en">Dnchc1</Synonym>
+              <Synonym lang="en">HL-3</Synonym>
+              <Synonym lang="en">p22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197102</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DYNC1H1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2961</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600112</Reference>
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+              <ExternalReference id="60591">
+                <Source>Reactome</Source>
+                <Reference>Q14204</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14204</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Autosomal recessive cerebellar ataxia-psychomotor delay syndrome</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21835308[PMID]</SourceOfValidation>
+          <Gene id="20591">
+            <Name lang="en">synaptotagmin 14</Name>
+            <Symbol>SYT14</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ34198</Synonym>
+              <Synonym lang="en">sytXIV</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60593">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143469</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SYT14</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23143</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NB59</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15652">
+            <Name lang="en">tripeptidyl peptidase 1</Name>
+            <Symbol>TPP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LPIC</Synonym>
+              <Synonym lang="en">TPP I</Synonym>
+              <Synonym lang="en">TPP-1</Synonym>
+              <Synonym lang="en">lysosomal pepstatin-insensitive carboxypeptidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O14773</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166340</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TPP1</Reference>
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+                <Reference>2073</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14773</Reference>
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+      <Name lang="en">Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24369382[PMID]</SourceOfValidation>
+          <Gene id="15732">
+            <Name lang="en">WW domain containing oxidoreductase</Name>
+            <Symbol>WWOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FOR</Synonym>
+              <Synonym lang="en">SDR41C1</Synonym>
+              <Synonym lang="en">WOX1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 41C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186153</Reference>
+              </ExternalReference>
+              <ExternalReference id="37404">
+                <Source>Genatlas</Source>
+                <Reference>WWOX</Reference>
+              </ExternalReference>
+              <ExternalReference id="27927">
+                <Source>HGNC</Source>
+                <Reference>12799</Reference>
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+              <ExternalReference id="27926">
+                <Source>OMIM</Source>
+                <Reference>605131</Reference>
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+              <ExternalReference id="59228">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZC7</Reference>
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+              <Locus id="14435">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="20593">
+      <OrphaCode>284289</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284289</ExpertLink>
+      <Name lang="en">Adult-onset autosomal recessive cerebellar ataxia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21092923[PMID]</SourceOfValidation>
+          <Gene id="20594">
+            <Name lang="en">anoctamin 10</Name>
+            <Symbol>ANO10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ10375</Synonym>
+              <Synonym lang="en">MGC47890</Synonym>
+              <Synonym lang="en">SCAR10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="54668">
+                <Source>HGNC</Source>
+                <Reference>25519</Reference>
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+              <ExternalReference id="54669">
+                <Source>OMIM</Source>
+                <Reference>613726</Reference>
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+              <ExternalReference id="83225">
+                <Source>Reactome</Source>
+                <Reference>Q9NW15</Reference>
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+              <ExternalReference id="54671">
+                <Source>SwissProt</Source>
+                <Reference>Q9NW15</Reference>
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+              <ExternalReference id="60594">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160746</Reference>
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+              <ExternalReference id="54670">
+                <Source>Genatlas</Source>
+                <Reference>ANO10</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="20598">
+      <OrphaCode>284343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=284343</ExpertLink>
+      <Name lang="en">DICER1 tumor-predisposition syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21266384[PMID]_24761742[PMID]</SourceOfValidation>
+          <Gene id="18649">
+            <Name lang="en">dicer 1, ribonuclease III</Name>
+            <Symbol>DICER1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Dicer</Synonym>
+              <Synonym lang="en">HERNA</Synonym>
+              <Synonym lang="en">K12H4.8-LIKE</Synonym>
+              <Synonym lang="en">KIAA0928</Synonym>
+              <Synonym lang="en">dicer 1, double-stranded RNA-specific endoribonuclease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59956">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100697</Reference>
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+              <ExternalReference id="43044">
+                <Source>Genatlas</Source>
+                <Reference>DICER1</Reference>
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+              <ExternalReference id="43045">
+                <Source>HGNC</Source>
+                <Reference>17098</Reference>
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+              <ExternalReference id="43046">
+                <Source>OMIM</Source>
+                <Reference>606241</Reference>
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+              <ExternalReference id="59957">
+                <Source>Reactome</Source>
+                <Reference>Q9UPY3</Reference>
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+              <ExternalReference id="43047">
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+                <Reference>Q9UPY3</Reference>
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+      <Name lang="en">Pontocerebellar hypoplasia type 7</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28092684[PMID]</SourceOfValidation>
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+            <Name lang="en">target of EGR1, exonuclease</Name>
+            <Symbol>TOE1</Symbol>
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+              <Synonym lang="en">TOE-1</Synonym>
+              <Synonym lang="en">hCaf1z</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143004">
+                <Source>Reactome</Source>
+                <Reference>Q96GM8</Reference>
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+              <ExternalReference id="141192">
+                <Source>HGNC</Source>
+                <Reference>15954</Reference>
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+              <ExternalReference id="141193">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132773</Reference>
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+              <ExternalReference id="141194">
+                <Source>SwissProt</Source>
+                <Reference>Q96GM8</Reference>
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+              <ExternalReference id="141195">
+                <Source>OMIM</Source>
+                <Reference>613931</Reference>
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+              <ExternalReference id="141196">
+                <Source>Genatlas</Source>
+                <Reference>TOE1</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33168985[PMID]</SourceOfValidation>
+          <Gene id="25289">
+            <Name lang="en">multiple inositol-polyphosphate phosphatase 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="138512">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107789</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605391</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MINPP1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UNW1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UNW1</Reference>
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+      <Name lang="en">Glycerol kinase deficiency, juvenile form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>GK</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33149">
+                <Source>SwissProt</Source>
+                <Reference>P32189</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198814</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Inherited Creutzfeldt-Jakob disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">CD230</Synonym>
+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000171867</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Rheumatoid arthritis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
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+                <Reference>4948</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome</Name>
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+                <Reference>Q6XR72</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Rhizomelic chondrodysplasia punctata type 3</Name>
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+            <Name lang="en">alkylglycerone phosphate synthase</Name>
+            <Symbol>AGPS</Symbol>
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+              <Synonym lang="en">ADAS</Synonym>
+              <Synonym lang="en">ADHAPS</Synonym>
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+                <Reference>ENSG00000018510</Reference>
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+                <Reference>327</Reference>
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+                <Reference>603051</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Rhizomelic chondrodysplasia punctata type 1</Name>
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+              <Synonym lang="en">Refsum disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="32290">
+                <Source>Genatlas</Source>
+                <Reference>PEX7</Reference>
+              </ExternalReference>
+              <ExternalReference id="32288">
+                <Source>HGNC</Source>
+                <Reference>8860</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>601757</Reference>
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+              <ExternalReference id="33752">
+                <Source>SwissProt</Source>
+                <Reference>O00628</Reference>
+              </ExternalReference>
+              <ExternalReference id="57222">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112357</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22471">
+                <GeneLocus>6q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21389">
+      <OrphaCode>309796</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=309796</ExpertLink>
+      <Name lang="en">Rhizomelic chondrodysplasia punctata type 2</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21990100[PMID]</SourceOfValidation>
+          <Gene id="16151">
+            <Name lang="en">glyceronephosphate O-acyltransferase</Name>
+            <Symbol>GNPAT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DAP-AT</Synonym>
+              <Synonym lang="en">DAPAT</Synonym>
+              <Synonym lang="en">DHAPAT</Synonym>
+              <Synonym lang="en">dihydroxyacetone phosphate acyltransferase</Synonym>
+              <Synonym lang="en">glycerone-phosphate O-acyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58655">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116906</Reference>
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+              <ExternalReference id="29958">
+                <Source>Genatlas</Source>
+                <Reference>GNPAT</Reference>
+              </ExternalReference>
+              <ExternalReference id="29956">
+                <Source>HGNC</Source>
+                <Reference>4416</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602744</Reference>
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+              <ExternalReference id="58656">
+                <Source>Reactome</Source>
+                <Reference>O15228</Reference>
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+              <ExternalReference id="33170">
+                <Source>SwissProt</Source>
+                <Reference>O15228</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>314029</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=314029</ExpertLink>
+      <Name lang="en">High bone mass osteogenesis imperfecta</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>21344539[PMID]</SourceOfValidation>
+          <Gene id="15767">
+            <Name lang="en">collagen type I alpha 1 chain</Name>
+            <Symbol>COL1A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OI4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108821</Reference>
+              </ExternalReference>
+              <ExternalReference id="28089">
+                <Source>Genatlas</Source>
+                <Reference>COL1A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28091">
+                <Source>HGNC</Source>
+                <Reference>2197</Reference>
+              </ExternalReference>
+              <ExternalReference id="28090">
+                <Source>OMIM</Source>
+                <Reference>120150</Reference>
+              </ExternalReference>
+              <ExternalReference id="57282">
+                <Source>Reactome</Source>
+                <Reference>P02452</Reference>
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+              <ExternalReference id="32739">
+                <Source>SwissProt</Source>
+                <Reference>P02452</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21344539[PMID]</SourceOfValidation>
+          <Gene id="15768">
+            <Name lang="en">collagen type I alpha 2 chain</Name>
+            <Symbol>COL1A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">alpha 2(I)-collagen</Synonym>
+              <Synonym lang="en">alpha-2 collagen type I</Synonym>
+              <Synonym lang="en">collagen I, alpha-2 polypeptide</Synonym>
+              <Synonym lang="en">collagen of skin, tendon and bone, alpha-2 chain</Synonym>
+              <Synonym lang="en">type I procollagen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59952">
+                <Source>Reactome</Source>
+                <Reference>P08123</Reference>
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+              <ExternalReference id="32740">
+                <Source>SwissProt</Source>
+                <Reference>P08123</Reference>
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+              <ExternalReference id="59951">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164692</Reference>
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+              <ExternalReference id="28097">
+                <Source>Genatlas</Source>
+                <Reference>COL1A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2198</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27264419[PMID]_22482805[PMID</SourceOfValidation>
+          <Gene id="20693">
+            <Name lang="en">bone morphogenetic protein 1</Name>
+            <Symbol>BMP1</Symbol>
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+              <Synonym lang="en">BMP-1</Synonym>
+              <Synonym lang="en">tolloid-like</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60320">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168487</Reference>
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+                <Reference>BMP1</Reference>
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+                <Reference>1067</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2333</Reference>
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+                <Source>OMIM</Source>
+                <Reference>112264</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13497</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Gastric adenocarcinoma and proximal polyposis of the stomach</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
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+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
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+                <Reference>583</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Developmental and speech delay due to SOX5 deficiency</Name>
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+            <Name lang="en">SRY-box transcription factor 5</Name>
+            <Symbol>SOX5</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134532</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">K-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+                <Source>Reactome</Source>
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+    <Disorder id="21457">
+      <OrphaCode>313846</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=313846</ExpertLink>
+      <Name lang="en">Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22341969[PMID]</SourceOfValidation>
+          <Gene id="15333">
+            <Name lang="en">ATR serine/threonine kinase</Name>
+            <Symbol>ATR</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">MEC1</Synonym>
+              <Synonym lang="en">MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">SCKL</Synonym>
+              <Synonym lang="en">SCKL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57871">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175054</Reference>
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+              <ExternalReference id="37345">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="26017">
+                <Source>HGNC</Source>
+                <Reference>882</Reference>
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+                <Reference>1935</Reference>
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+                <Reference>601215</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13535</Reference>
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+                <Reference>Q13535</Reference>
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+      <Name lang="en">Coats plus syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">CST telomere replication complex component 1</Name>
+            <Symbol>CTC1</Symbol>
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+              <Synonym lang="en">Conserved telomere capping protein 1</Synonym>
+              <Synonym lang="en">Conserved telomere maintenance component 1</Synonym>
+              <Synonym lang="en">FLJ22170</Synonym>
+              <Synonym lang="en">alpha accessory factor 132</Synonym>
+              <Synonym lang="en">conserved telomere capping protein 1</Synonym>
+              <Synonym lang="en">conserved telomere maintenance component 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000178971</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26169</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25957586[PMID]</SourceOfValidation>
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+            <Name lang="en">STN1 subunit of CST complex</Name>
+            <Symbol>STN1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9H668</Reference>
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+              <ExternalReference id="83816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107960</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H668</Reference>
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+      <Name lang="en">Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="30667">
+            <Name lang="en">alpha kinase 1</Name>
+            <Symbol>ALPK1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073331</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607347</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96QP1</Reference>
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+                <Reference>1930</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22492562[PMID]_24501781[PMID]</SourceOfValidation>
+          <Gene id="21597">
+            <Name lang="en">glutamyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>EARS2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">'glutamate tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">Glutamate tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">KIAA1970</Synonym>
+              <Synonym lang="en">MSE1</Synonym>
+              <Synonym lang="en">mtGlnRS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83564">
+                <Source>Reactome</Source>
+                <Reference>Q5JPH6</Reference>
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+              <ExternalReference id="74882">
+                <Source>SwissProt</Source>
+                <Reference>Q5JPH6</Reference>
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+              <ExternalReference id="83565">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103356</Reference>
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+              <ExternalReference id="74881">
+                <Source>Genatlas</Source>
+                <Reference>EARS2</Reference>
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+              <ExternalReference id="74879">
+                <Source>HGNC</Source>
+                <Reference>29419</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612799</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21249">
+      <OrphaCode>306674</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=306674</ExpertLink>
+      <Name lang="en">Kufor-Rakeb syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>2276817[PMID]_22166458[PMID]</SourceOfValidation>
+          <Gene id="15965">
+            <Name lang="en">ATPase cation transporting 13A2</Name>
+            <Symbol>ATP13A2</Symbol>
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+              <Synonym lang="en">CLN12</Synonym>
+              <Synonym lang="en">HSA9947</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193616">
+                <Source>IUPHAR</Source>
+                <Reference>3156</Reference>
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+              <ExternalReference id="57840">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159363</Reference>
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+              <ExternalReference id="29023">
+                <Source>Genatlas</Source>
+                <Reference>ATP13A2</Reference>
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+              <ExternalReference id="29021">
+                <Source>HGNC</Source>
+                <Reference>30213</Reference>
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+              <ExternalReference id="29020">
+                <Source>OMIM</Source>
+                <Reference>610513</Reference>
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+              <ExternalReference id="97213">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQ11</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Primary dystonia, DYT21 type</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21301909[PMID]</SourceOfValidation>
+          <Gene id="21433">
+            <Name lang="en">dystonia 21, torsion (autosomal dominant)</Name>
+            <Symbol>DYT21</Symbol>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21305">
+      <OrphaCode>308380</OrphaCode>
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+      <Name lang="en">Methylcobalamin deficiency type cblDv1</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>18385497[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CL25022</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59342">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168288</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MMADHC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25221</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611935</Reference>
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+              <ExternalReference id="83120">
+                <Source>Reactome</Source>
+                <Reference>Q9H3L0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3L0</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21306">
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+      <Name lang="en">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59906">
+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</Name>
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+              <Synonym lang="en">molybdopterin synthase catalytic subunit</Synonym>
+              <Synonym lang="en">molybdopterin synthase large subunit</Synonym>
+              <Synonym lang="en">molybdopterin synthase small subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQX3</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>1939</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">methylmalonyl-CoA epimerase</Name>
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+              <Synonym lang="en">MCE</Synonym>
+              <Synonym lang="en">glyoxalase domain containing 2</Synonym>
+              <Synonym lang="en">methylmalonyl CoA isomerase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124370</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MCEE</Reference>
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+                <Reference>16732</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608419</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96PE7</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16107">
+            <Name lang="en">1,4-alpha-glucan branching enzyme 1</Name>
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+              <Synonym lang="en">glycogen branching enzyme</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">glycogen branching enzyme</Synonym>
+              <Synonym lang="en">glycogen storage disease type IV</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q04446</Reference>
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+                <Reference>GBE1</Reference>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</Name>
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+              <Synonym lang="en">glycogen branching enzyme</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56703">
+                <Source>Reactome</Source>
+                <Reference>Q04446</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q04446</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114480</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56703">
+                <Source>Reactome</Source>
+                <Reference>Q04446</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=308442</ExpertLink>
+      <Name lang="en">Vitamin B12-responsive methylmalonic acidemia, type cblDv2</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">metabolism of cobalamin associated D</Name>
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+            <SynonymList count="2">
+              <Synonym lang="en">CL25022</Synonym>
+              <Synonym lang="en">cblD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59342">
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+                <Reference>ENSG00000168288</Reference>
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+              <ExternalReference id="40123">
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+                <Source>HGNC</Source>
+                <Reference>25221</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H3L0</Reference>
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+                <Reference>Q9H3L0</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>GBE1</Symbol>
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+              <Synonym lang="en">glycogen branching enzyme</Synonym>
+              <Synonym lang="en">glycogen storage disease type IV</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56703">
+                <Source>Reactome</Source>
+                <Reference>Q04446</Reference>
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+              <ExternalReference id="33122">
+                <Source>SwissProt</Source>
+                <Reference>Q04446</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114480</Reference>
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+                <Reference>GBE1</Reference>
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+              <ExternalReference id="29740">
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+                <Reference>4180</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>GBE1</Symbol>
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+              <Synonym lang="en">glycogen branching enzyme</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56703">
+                <Source>Reactome</Source>
+                <Reference>Q04446</Reference>
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+              <ExternalReference id="33122">
+                <Source>SwissProt</Source>
+                <Reference>Q04446</Reference>
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+              <ExternalReference id="56702">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114480</Reference>
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+              <ExternalReference id="29742">
+                <Source>Genatlas</Source>
+                <Reference>GBE1</Reference>
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+                <Reference>4180</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56703">
+                <Source>Reactome</Source>
+                <Reference>Q04446</Reference>
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+              <ExternalReference id="33122">
+                <Source>SwissProt</Source>
+                <Reference>Q04446</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114480</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Glycogen storage disease due to acid maltase deficiency, infantile onset</Name>
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+          <Gene id="16088">
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+                <Source>Reactome</Source>
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+      <Name lang="en">Atypical Gaucher disease due to saposin C deficiency</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Metachromatic leukodystrophy, late infantile form</Name>
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+                <Reference>ENSG00000197746</Reference>
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+                <Reference>ENSG00000197746</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>612222</Reference>
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+              <ExternalReference id="97222">
+                <Source>Reactome</Source>
+                <Reference>P34059</Reference>
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+              <ExternalReference id="33110">
+                <Source>SwissProt</Source>
+                <Reference>P34059</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21370">
+      <OrphaCode>309310</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=309310</ExpertLink>
+      <Name lang="en">Mucopolysaccharidosis type 4B</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>24156116[PMID]</SourceOfValidation>
+          <Gene id="16136">
+            <Name lang="en">galactosidase beta 1</Name>
+            <Symbol>GLB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EBP</Synonym>
+              <Synonym lang="en">elastin binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57741">
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+                <Reference>ENSG00000170266</Reference>
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+              <ExternalReference id="29880">
+                <Source>Genatlas</Source>
+                <Reference>GLB1</Reference>
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+              <ExternalReference id="29882">
+                <Source>HGNC</Source>
+                <Reference>4298</Reference>
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+              <ExternalReference id="50649">
+                <Source>OMIM</Source>
+                <Reference>611458</Reference>
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+              <ExternalReference id="57742">
+                <Source>Reactome</Source>
+                <Reference>P16278</Reference>
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+              <ExternalReference id="33151">
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+                <Reference>P16278</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21357">
+      <OrphaCode>309185</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=309185</ExpertLink>
+      <Name lang="en">Tay-Sachs disease, B variant, juvenile form</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16193">
+            <Name lang="en">hexosaminidase subunit alpha</Name>
+            <Symbol>HEXA</Symbol>
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+              <Synonym lang="en">GM2 gangliosidosis</Synonym>
+              <Synonym lang="en">Tay Sachs disease</Synonym>
+              <Synonym lang="en">beta-hexosaminidase subunit alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="30155">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57758">
+                <Source>Reactome</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="33212">
+                <Source>SwissProt</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="57757">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213614</Reference>
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+              <ExternalReference id="30154">
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+                <Reference>HEXA</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21356">
+      <OrphaCode>309178</OrphaCode>
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+      <Name lang="en">Tay-Sachs disease, B variant, infantile form</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="16193">
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+              <Synonym lang="en">Tay Sachs disease</Synonym>
+              <Synonym lang="en">beta-hexosaminidase subunit alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="30156">
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+              <ExternalReference id="30155">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57758">
+                <Source>Reactome</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="33212">
+                <Source>SwissProt</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="57757">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213614</Reference>
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+              <ExternalReference id="30154">
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+                <Reference>HEXA</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21359">
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+      <Name lang="en">Tay-Sachs disease, B1 variant</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="30155">
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+              <ExternalReference id="57758">
+                <Source>Reactome</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="33212">
+                <Source>SwissProt</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="57757">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213614</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <DisorderGeneAssociationList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P06865</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P06865</Reference>
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+              <ExternalReference id="57757">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213614</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P07686</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 34 member 1</Name>
+            <Symbol>SLC34A1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">NAPI-3</Synonym>
+              <Synonym lang="en">NPTIIa</Synonym>
+              <Synonym lang="en">Na+-phosphate cotransporter type II</Synonym>
+              <Synonym lang="en">SLC11</Synonym>
+              <Synonym lang="en">sodium/phosphate co-transporter</Synonym>
+              <Synonym lang="en">solute carrier family 17 (sodium phosphate), member 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190471">
+                <Source>IUPHAR</Source>
+                <Reference>1135</Reference>
+              </ExternalReference>
+              <ExternalReference id="58708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131183</Reference>
+              </ExternalReference>
+              <ExternalReference id="45374">
+                <Source>Genatlas</Source>
+                <Reference>SLC34A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="45375">
+                <Source>HGNC</Source>
+                <Reference>11019</Reference>
+              </ExternalReference>
+              <ExternalReference id="45377">
+                <Source>OMIM</Source>
+                <Reference>182309</Reference>
+              </ExternalReference>
+              <ExternalReference id="58709">
+                <Source>Reactome</Source>
+                <Reference>Q06495</Reference>
+              </ExternalReference>
+              <ExternalReference id="45376">
+                <Source>SwissProt</Source>
+                <Reference>Q06495</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60351">
+                <GeneLocus>5q35.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21132">
+      <OrphaCode>300570</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300570</ExpertLink>
+      <Name lang="en">Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20829227[PMID]</SourceOfValidation>
+          <Gene id="19021">
+            <Name lang="en">tubulin beta 3 class III</Name>
+            <Symbol>TUBB3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CFEOM3</Synonym>
+              <Synonym lang="en">CFEOM3A</Synonym>
+              <Synonym lang="en">beta-4</Synonym>
+              <Synonym lang="en">class III beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96209">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258947</Reference>
+              </ExternalReference>
+              <ExternalReference id="44942">
+                <Source>Genatlas</Source>
+                <Reference>TUBB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="44943">
+                <Source>HGNC</Source>
+                <Reference>20772</Reference>
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+              <ExternalReference id="87991">
+                <Source>IUPHAR</Source>
+                <Reference>2752</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602661</Reference>
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+              <ExternalReference id="59070">
+                <Source>Reactome</Source>
+                <Reference>Q13509</Reference>
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+              <ExternalReference id="44945">
+                <Source>SwissProt</Source>
+                <Reference>Q13509</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21133">
+      <OrphaCode>300573</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300573</ExpertLink>
+      <Name lang="en">Polymicrogyria due to TUBB2B mutation</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19465910[PMID]</SourceOfValidation>
+          <Gene id="18462">
+            <Name lang="en">tubulin beta 2B class IIb</Name>
+            <Symbol>TUBB2B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp566F223</Synonym>
+              <Synonym lang="en">MGC8685</Synonym>
+              <Synonym lang="en">bA506K6.1</Synonym>
+              <Synonym lang="en">class IIb beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137285</Reference>
+              </ExternalReference>
+              <ExternalReference id="46820">
+                <Source>Genatlas</Source>
+                <Reference>TUBB2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="42404">
+                <Source>HGNC</Source>
+                <Reference>30829</Reference>
+              </ExternalReference>
+              <ExternalReference id="42405">
+                <Source>OMIM</Source>
+                <Reference>612850</Reference>
+              </ExternalReference>
+              <ExternalReference id="60021">
+                <Source>Reactome</Source>
+                <Reference>Q9BVA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="42406">
+                <Source>SwissProt</Source>
+                <Reference>Q9BVA1</Reference>
+              </ExternalReference>
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+                <GeneLocus>6p25.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="21134">
+      <OrphaCode>300576</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300576</ExpertLink>
+      <Name lang="en">Oligodontia-cancer predisposition syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15042511[PMID]_21416598[PMID]</SourceOfValidation>
+          <Gene id="15346">
+            <Name lang="en">axin 2</Name>
+            <Symbol>AXIN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp781B0869</Synonym>
+              <Synonym lang="en">MGC126582</Synonym>
+              <Synonym lang="en">axil</Synonym>
+              <Synonym lang="en">conductin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168646</Reference>
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+              <ExternalReference id="26080">
+                <Source>Genatlas</Source>
+                <Reference>AXIN2</Reference>
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+              <ExternalReference id="26078">
+                <Source>HGNC</Source>
+                <Reference>904</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604025</Reference>
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+              <ExternalReference id="87964">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2T1</Reference>
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+              <ExternalReference id="33903">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2T1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21120">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300496</ExpertLink>
+      <Name lang="en">Multiple congenital anomalies-hypotonia-seizures syndrome type 2</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="19197">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class A</Name>
+            <Symbol>PIGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPI3</Synonym>
+              <Synonym lang="en">paroxysmal nocturnal hemoglobinuria</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165195</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PIGA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8957</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="56711">
+                <Source>Reactome</Source>
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+              <ExternalReference id="46179">
+                <Source>SwissProt</Source>
+                <Reference>P37287</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21125">
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+      <Name lang="en">Pseudohypoaldosteronism type 2D</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">kelch like family member 3</Name>
+            <Symbol>KLHL3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1129</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126408">
+                <Source>Reactome</Source>
+                <Reference>Q9UH77</Reference>
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+              <ExternalReference id="83405">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146021</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KLHL3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6354</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605775</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UH77</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21126">
+      <OrphaCode>300530</OrphaCode>
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+      <Name lang="en">Pseudohypoaldosteronism type 2E</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22073419[PMID]</SourceOfValidation>
+          <Gene id="21177">
+            <Name lang="en">cullin 3</Name>
+            <Symbol>CUL3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>CUL3</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>2553</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603136</Reference>
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+              <ExternalReference id="83406">
+                <Source>Reactome</Source>
+                <Reference>Q13618</Reference>
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+              <ExternalReference id="69736">
+                <Source>SwissProt</Source>
+                <Reference>Q13618</Reference>
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+              <ExternalReference id="83407">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036257</Reference>
+              </ExternalReference>
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+                <GeneLocus>2q36.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21127">
+      <OrphaCode>300536</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300536</ExpertLink>
+      <Name lang="en">DDOST-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>22305527[PMID]</SourceOfValidation>
+          <Gene id="21182">
+            <Name lang="en">dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit</Name>
+            <Symbol>DDOST</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">GATD6</Synonym>
+              <Synonym lang="en">KIAA0115</Synonym>
+              <Synonym lang="en">OST</Synonym>
+              <Synonym lang="en">OST48</Synonym>
+              <Synonym lang="en">WBP1</Synonym>
+              <Synonym lang="en">advanced glycation end-product receptor 1</Synonym>
+              <Synonym lang="en">oligosaccharyltransferase subunit 48</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83416">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244038</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DDOST</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2728</Reference>
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+              <ExternalReference id="69791">
+                <Source>OMIM</Source>
+                <Reference>602202</Reference>
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+              <ExternalReference id="83415">
+                <Source>Reactome</Source>
+                <Reference>P39656</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P39656</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>300865</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300865</ExpertLink>
+      <Name lang="en">Primary cutaneous anaplastic large cell lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25349176[PMID]</SourceOfValidation>
+          <Gene id="17260">
+            <Name lang="en">tyrosine kinase 2</Name>
+            <Symbol>TYK2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JTK1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58909">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105397</Reference>
+              </ExternalReference>
+              <ExternalReference id="36484">
+                <Source>Genatlas</Source>
+                <Reference>TYK2</Reference>
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+              <ExternalReference id="36487">
+                <Source>HGNC</Source>
+                <Reference>12440</Reference>
+              </ExternalReference>
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+                <Source>IUPHAR</Source>
+                <Reference>2269</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176941</Reference>
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+              <ExternalReference id="58910">
+                <Source>Reactome</Source>
+                <Reference>P29597</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P29597</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25349176[PMID]</SourceOfValidation>
+          <Gene id="17401">
+            <Name lang="en">nucleophosmin 1</Name>
+            <Symbol>NPM1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">'nucleophosmin/nucleoplasmin family, member 1'</Synonym>
+              <Synonym lang="en">B23</Synonym>
+              <Synonym lang="en">NPM</Synonym>
+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
+              <Synonym lang="en">Numatrin</Synonym>
+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58811">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181163</Reference>
+              </ExternalReference>
+              <ExternalReference id="37278">
+                <Source>Genatlas</Source>
+                <Reference>NPM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37279">
+                <Source>HGNC</Source>
+                <Reference>7910</Reference>
+              </ExternalReference>
+              <ExternalReference id="37280">
+                <Source>OMIM</Source>
+                <Reference>164040</Reference>
+              </ExternalReference>
+              <ExternalReference id="58812">
+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+              <ExternalReference id="37281">
+                <Source>SwissProt</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10153">
+                <GeneLocus>5q35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="21149">
+      <OrphaCode>300878</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300878</ExpertLink>
+      <Name lang="en">Hairy cell leukemia variant</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21599610[PMID]_19745070[PMID]</SourceOfValidation>
+          <Gene id="22185">
+            <Name lang="en">immunoglobulin heavy variable 4-34</Name>
+            <Symbol>IGHV4-34</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="125551">
+                <Source>SwissProt</Source>
+                <Reference>P06331</Reference>
+              </ExternalReference>
+              <ExternalReference id="126424">
+                <Source>Reactome</Source>
+                <Reference>P06331</Reference>
+              </ExternalReference>
+              <ExternalReference id="80040">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000211956</Reference>
+              </ExternalReference>
+              <ExternalReference id="80039">
+                <Source>Genatlas</Source>
+                <Reference>IGHV4-34</Reference>
+              </ExternalReference>
+              <ExternalReference id="80038">
+                <Source>HGNC</Source>
+                <Reference>5650</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26833">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="21151">
+      <OrphaCode>300895</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300895</ExpertLink>
+      <Name lang="en">ALK-positive anaplastic large cell lymphoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12112524[PMID]</SourceOfValidation>
+          <Gene id="17442">
+            <Name lang="en">ALK receptor tyrosine kinase</Name>
+            <Symbol>ALK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD246</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143296">
+                <Source>Reactome</Source>
+                <Reference>Q9UM73</Reference>
+              </ExternalReference>
+              <ExternalReference id="57371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171094</Reference>
+              </ExternalReference>
+              <ExternalReference id="37978">
+                <Source>Genatlas</Source>
+                <Reference>ALK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>427</Reference>
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+              <ExternalReference id="83095">
+                <Source>IUPHAR</Source>
+                <Reference>1839</Reference>
+              </ExternalReference>
+              <ExternalReference id="37981">
+                <Source>OMIM</Source>
+                <Reference>105590</Reference>
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+              <ExternalReference id="37980">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM73</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="21137">
+      <OrphaCode>300605</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300605</ExpertLink>
+      <Name lang="en">Juvenile amyotrophic lateral sclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23282280[PMID]</SourceOfValidation>
+          <Gene id="15505">
+            <Name lang="en">alsin Rho guanine nucleotide exchange factor ALS2</Name>
+            <Symbol>ALS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Alsin</Synonym>
+              <Synonym lang="en">alsin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000003393</Reference>
+              </ExternalReference>
+              <ExternalReference id="26851">
+                <Source>Genatlas</Source>
+                <Reference>ALS2</Reference>
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+              <ExternalReference id="26853">
+                <Source>HGNC</Source>
+                <Reference>443</Reference>
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+              <ExternalReference id="26852">
+                <Source>OMIM</Source>
+                <Reference>606352</Reference>
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+              <ExternalReference id="32476">
+                <Source>SwissProt</Source>
+                <Reference>Q96Q42</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96Q42</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24085347[PMID]_22154821[PMID]_20110243[PMID]</SourceOfValidation>
+          <Gene id="15544">
+            <Name lang="en">SPG11 vesicle trafficking associated, spatacsin</Name>
+            <Symbol>SPG11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ21439</Synonym>
+              <Synonym lang="en">spatacsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58288">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104133</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SPG11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11226</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610844</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96JI7</Reference>
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+                <GeneLocus>15q21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21907581[PMID]_20668261[PMID]_20579074[PMID]_23046859[PMID]_22248478[PMID]</SourceOfValidation>
+          <Gene id="17369">
+            <Name lang="en">FUS RNA binding protein</Name>
+            <Symbol>FUS</Symbol>
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+              <Synonym lang="en">HNRNPP2</Synonym>
+              <Synonym lang="en">TLS</Synonym>
+              <Synonym lang="en">heterogeneous nuclear ribonucleoprotein P2</Synonym>
+              <Synonym lang="en">hnRNP-P2</Synonym>
+              <Synonym lang="en">translocated in liposarcoma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56796">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089280</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FUS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4010</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="56797">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35637</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21842496[PMID]_24085347[PMID]</SourceOfValidation>
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+            <Name lang="en">sigma non-opioid intracellular receptor 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147955</Reference>
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+                <Reference>SIGMAR1</Reference>
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+                <Reference>8157</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2552</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601978</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99720</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34459874[PMID]</SourceOfValidation>
+          <Gene id="15555">
+            <Name lang="en">serine palmitoyltransferase long chain base subunit 1</Name>
+            <Symbol>SPTLC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HSAN1</Synonym>
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+              <Synonym lang="en">hLCB1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2509</Reference>
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+              <ExternalReference id="59043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090054</Reference>
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+                <Reference>SPTLC1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O15269</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15269</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=300751</ExpertLink>
+      <Name lang="en">Familial dilated cardiomyopathy with conduction defect due to LMNA mutation</Name>
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+        <Name lang="en">Disease</Name>
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+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+                <Reference>150330</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+      <Name lang="en">FADD-related immunodeficiency</Name>
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+            <Symbol>FADD</Symbol>
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+              <Synonym lang="en">Fas-associating protein with death domain</Synonym>
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+              <Synonym lang="en">mediator of receptor-induced toxicity</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168040</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3573</Reference>
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+                <Reference>602457</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+          <Gene id="21424">
+            <Name lang="en">ALX homeobox 1</Name>
+            <Symbol>ALX1</Symbol>
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+                <Reference>Q15699</Reference>
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+                <Reference>601527</Reference>
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+                <Reference>ENSG00000180318</Reference>
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+              <ExternalReference id="71656">
+                <Source>Genatlas</Source>
+                <Reference>ALX1</Reference>
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+              <ExternalReference id="71654">
+                <Source>HGNC</Source>
+                <Reference>1494</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21229">
+      <OrphaCode>306547</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=306547</ExpertLink>
+      <Name lang="en">Porencephaly-microcephaly-bilateral congenital cataract syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21109224[PMID]</SourceOfValidation>
+          <Gene id="21425">
+            <Name lang="en">junctional adhesion molecule 3</Name>
+            <Symbol>JAM3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JAM-C</Synonym>
+              <Synonym lang="en">JAMC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166086</Reference>
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+              <ExternalReference id="71671">
+                <Source>Genatlas</Source>
+                <Reference>JAM3</Reference>
+              </ExternalReference>
+              <ExternalReference id="71669">
+                <Source>HGNC</Source>
+                <Reference>15532</Reference>
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+              <ExternalReference id="71670">
+                <Source>OMIM</Source>
+                <Reference>606871</Reference>
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+              <ExternalReference id="83487">
+                <Source>Reactome</Source>
+                <Reference>Q9BX67</Reference>
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+              <ExternalReference id="71672">
+                <Source>SwissProt</Source>
+                <Reference>Q9BX67</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21226">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=306530</ExpertLink>
+      <Name lang="en">Congenital hereditary facial paralysis-variable hearing loss syndrome</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>22770981[PMID]</SourceOfValidation>
+          <Gene id="21423">
+            <Name lang="en">homeobox B1</Name>
+            <Symbol>HOXB1</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83485">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120094</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HOXB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5111</Reference>
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+              <ExternalReference id="71644">
+                <Source>OMIM</Source>
+                <Reference>142968</Reference>
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+              <ExternalReference id="98099">
+                <Source>Reactome</Source>
+                <Reference>P14653</Reference>
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+              <ExternalReference id="71646">
+                <Source>SwissProt</Source>
+                <Reference>P14653</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21221">
+      <OrphaCode>306511</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=306511</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 48</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20613862[PMID]</SourceOfValidation>
+          <Gene id="21421">
+            <Name lang="en">adaptor related protein complex 5 subunit zeta 1</Name>
+            <Symbol>AP5Z1</Symbol>
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+              <Synonym lang="en">SPG48</Synonym>
+              <Synonym lang="en">zeta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000242802</Reference>
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+              <ExternalReference id="100011">
+                <Source>Genatlas</Source>
+                <Reference>AP5Z1</Reference>
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+              <ExternalReference id="71457">
+                <Source>HGNC</Source>
+                <Reference>22197</Reference>
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+              <ExternalReference id="71458">
+                <Source>OMIM</Source>
+                <Reference>613653</Reference>
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+              <ExternalReference id="71460">
+                <Source>SwissProt</Source>
+                <Reference>O43299</Reference>
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+    <Disorder id="21219">
+      <OrphaCode>306504</OrphaCode>
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+      <Name lang="en">Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">integrin subunit alpha 3</Name>
+            <Symbol>ITGA3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CD49c</Synonym>
+              <Synonym lang="en">GAP-B3</Synonym>
+              <Synonym lang="en">VCA-2</Synonym>
+              <Synonym lang="en">VLA3a</Synonym>
+              <Synonym lang="en">alpha 3 subunit of VLA-3 receptor</Synonym>
+              <Synonym lang="en">antigen CD49C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="71451">
+                <Source>SwissProt</Source>
+                <Reference>P26006</Reference>
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+              <ExternalReference id="83482">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005884</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>6139</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P26006</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2442</Reference>
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+      <Name lang="en">Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome</Name>
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+            <Name lang="en">fibroblast growth factor 23</Name>
+            <Symbol>FGF23</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33059">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZV9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118972</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FGF23</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3680</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605380</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9GZV9</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">polypeptide N-acetylgalactosaminyltransferase 3</Name>
+            <Symbol>GALNT3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GalNAc-T3</Synonym>
+              <Synonym lang="en">HFTC</Synonym>
+              <Synonym lang="en">HHS</Synonym>
+              <Synonym lang="en">polypeptide GalNAc transferase 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>GALNT3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4125</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q14435</Reference>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17710231[PMID]_22142751[PMID]</SourceOfValidation>
+          <Gene id="18079">
+            <Name lang="en">klotho</Name>
+            <Symbol>KL</Symbol>
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+              <Synonym lang="en">alpha-klotho</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190365">
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UEF7</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Familial normophosphatemic tumoral calcinosis</Name>
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+            <Name lang="en">sterile alpha motif domain containing 9</Name>
+            <Symbol>SAMD9</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205413</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SAMD9</Reference>
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+                <Reference>1348</Reference>
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+                <Reference>610456</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">X-linked complicated spastic paraplegia type 1</Name>
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+            <Name lang="en">L1 cell adhesion molecule</Name>
+            <Symbol>L1CAM</Symbol>
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+              <Synonym lang="en">NCAM-L1</Synonym>
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+                <Reference>ENSG00000198910</Reference>
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+                <Reference>L1CAM</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6470</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P32004</Reference>
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+                <Reference>P32004</Reference>
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+      <OrphaCode>306577</OrphaCode>
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+      <Name lang="en">Sodium channelopathy-related small fiber neuropathy</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">NE-NA</Synonym>
+              <Synonym lang="en">NENA</Synonym>
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+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
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+              <ExternalReference id="37315">
+                <Source>Genatlas</Source>
+                <Reference>PIK3CA</Reference>
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+              <ExternalReference id="24873">
+                <Source>HGNC</Source>
+                <Reference>8975</Reference>
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+              <ExternalReference id="82736">
+                <Source>IUPHAR</Source>
+                <Reference>2153</Reference>
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+                <Source>OMIM</Source>
+                <Reference>171834</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="21066">
+      <OrphaCode>295243</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=295243</ExpertLink>
+      <Name lang="en">Macrodactyly of toes, unilateral</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>24782230[PMID]</SourceOfValidation>
+          <Gene id="15093">
+            <Name lang="en">phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha</Name>
+            <Symbol>PIK3CA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PI3K</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58416">
+                <Source>Reactome</Source>
+                <Reference>P42336</Reference>
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+              <ExternalReference id="32784">
+                <Source>SwissProt</Source>
+                <Reference>P42336</Reference>
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+              <ExternalReference id="58415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121879</Reference>
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+              <ExternalReference id="37315">
+                <Source>Genatlas</Source>
+                <Reference>PIK3CA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8975</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2153</Reference>
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+      <Name lang="en">Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="21186">
+            <Name lang="en">FKBP prolyl isomerase 14</Name>
+            <Symbol>FKBP14</Symbol>
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+              <Synonym lang="en">FLJ20731</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83422">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106080</Reference>
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+              <ExternalReference id="69821">
+                <Source>Genatlas</Source>
+                <Reference>FKBP14</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18625</Reference>
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+                <Reference>614505</Reference>
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+              <ExternalReference id="83421">
+                <Source>Reactome</Source>
+                <Reference>Q9NWM8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NWM8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 2P</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">FLJ31641</Synonym>
+              <Synonym lang="en">RIFLE</Synonym>
+              <Synonym lang="en">RING finger leucine repeat rich</Synonym>
+              <Synonym lang="en">TAL</Synonym>
+              <Synonym lang="en">TSG 101-associated ligase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83392">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148356</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25135</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610933</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q6UWE0</Reference>
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+      <Name lang="en">Persistent polyclonal B-cell lymphocytosis</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="22042">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9BXL7</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Severe congenital hypochromic anemia with ringed sideroblasts</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Transient infantile hypertriglyceridemia and hepatosteatosis</Name>
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+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
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+                <Reference>3603</Reference>
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+      <Name lang="en">Autosomal systemic lupus erythematosus</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">complement C1q A chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="39057">
+                <Source>Genatlas</Source>
+                <Reference>MED25</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28845</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610197</Reference>
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+              <ExternalReference id="60032">
+                <Source>Reactome</Source>
+                <Reference>Q71SY5</Reference>
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+              <ExternalReference id="46824">
+                <Source>SwissProt</Source>
+                <Reference>Q71SY5</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24049">
+      <OrphaCode>464760</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=464760</ExpertLink>
+      <Name lang="en">Familial cavitary optic disc anomaly</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25581579[PMID]</SourceOfValidation>
+          <Gene id="24213">
+            <Name lang="en">matrix metallopeptidase 19</Name>
+            <Symbol>MMP19</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RASI-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="126586">
+                <Source>HGNC</Source>
+                <Reference>7165</Reference>
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+              <ExternalReference id="126587">
+                <Source>OMIM</Source>
+                <Reference>601807</Reference>
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+              <ExternalReference id="126588">
+                <Source>Genatlas</Source>
+                <Reference>MMP19</Reference>
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+              <ExternalReference id="126589">
+                <Source>SwissProt</Source>
+                <Reference>Q99542</Reference>
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+              <ExternalReference id="126590">
+                <Source>Reactome</Source>
+                <Reference>Q99542</Reference>
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+              <ExternalReference id="126591">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123342</Reference>
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+              <ExternalReference id="126592">
+                <Source>IUPHAR</Source>
+                <Reference>1642</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="24048">
+      <OrphaCode>464756</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=464756</ExpertLink>
+      <Name lang="en">Familial gastric type 1 neuroendocrine tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25678551[PMID]</SourceOfValidation>
+          <Gene id="24208">
+            <Name lang="en">ATPase H+/K+ transporting subunit alpha</Name>
+            <Symbol>ATP4A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP6A</Synonym>
+              <Synonym lang="en">H(+)-K(+)-ATPase alpha subunit</Synonym>
+              <Synonym lang="en">gastric H,K-ATPase alpha subunit</Synonym>
+              <Synonym lang="en">proton pump</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126559">
+                <Source>HGNC</Source>
+                <Reference>819</Reference>
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+              <ExternalReference id="126560">
+                <Source>OMIM</Source>
+                <Reference>137216</Reference>
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+              <ExternalReference id="126561">
+                <Source>Genatlas</Source>
+                <Reference>ATP4A</Reference>
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+              <ExternalReference id="126562">
+                <Source>SwissProt</Source>
+                <Reference>P20648</Reference>
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+              <ExternalReference id="126563">
+                <Source>Reactome</Source>
+                <Reference>P20648</Reference>
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+              <ExternalReference id="126564">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105675</Reference>
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+              <ExternalReference id="126565">
+                <Source>IUPHAR</Source>
+                <Reference>849</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="24056">
+      <OrphaCode>465508</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=465508</ExpertLink>
+      <Name lang="en">Symptomatic form of hemochromatosis type 1</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301613[PMID]</SourceOfValidation>
+          <Gene id="16446">
+            <Name lang="en">homeostatic iron regulator</Name>
+            <Symbol>HFE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFE1</Synonym>
+              <Synonym lang="en">HLA-H</Synonym>
+              <Synonym lang="en">high Fe</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="48348">
+                <Source>OMIM</Source>
+                <Reference>613609</Reference>
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+              <ExternalReference id="33508">
+                <Source>SwissProt</Source>
+                <Reference>Q30201</Reference>
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+              <ExternalReference id="59415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010704</Reference>
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+              <ExternalReference id="34038">
+                <Source>Genatlas</Source>
+                <Reference>HFE</Reference>
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+              <ExternalReference id="31336">
+                <Source>HGNC</Source>
+                <Reference>4886</Reference>
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+              <ExternalReference id="143455">
+                <Source>Reactome</Source>
+                <Reference>Q30201</Reference>
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+                <GeneLocus>6p22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28335084[PMID]</SourceOfValidation>
+          <Gene id="23687">
+            <Name lang="en">bone morphogenetic protein 6</Name>
+            <Symbol>BMP6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VGR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153162</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1073</Reference>
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+                <Source>OMIM</Source>
+                <Reference>112266</Reference>
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+              <ExternalReference id="100857">
+                <Source>Genatlas</Source>
+                <Reference>BMP6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22004</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24010">
+      <OrphaCode>464282</OrphaCode>
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+      <Name lang="en">Spastic paraplegia-severe developmental delay-epilepsy syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26424145[PMID]_26437029[PMID]</SourceOfValidation>
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+            <Name lang="en">HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1</Name>
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+              <Synonym lang="en">KIAA1320</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100338">
+                <Source>Reactome</Source>
+                <Reference>Q8IYU2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21033</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610876</Reference>
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+              <ExternalReference id="73794">
+                <Source>SwissProt</Source>
+                <Reference>Q8IYU2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085382</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Short stature-brachydactyly-obesity-global developmental delay syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">protein arginine methyltransferase 7</Name>
+            <Symbol>PRMT7</Symbol>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NVM4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NVM4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132600</Reference>
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+      <Name lang="en">NON RARE IN EUROPE: Infantile capillary hemangioma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+            <Name lang="en">fms related receptor tyrosine kinase 4</Name>
+            <Symbol>FLT4</Symbol>
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+              <Synonym lang="en">Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4</Synonym>
+              <Synonym lang="en">PCL</Synonym>
+              <Synonym lang="en">VEGF receptor-3</Synonym>
+              <Synonym lang="en">VEGFR-3</Synonym>
+              <Synonym lang="en">VEGFR3</Synonym>
+              <Synonym lang="en">primary congenital lymphedema</Synonym>
+              <Synonym lang="en">vascular endothelial growth factor receptor 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000037280</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35916</Reference>
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+              <Synonym lang="en">Anthrax toxin receptor</Synonym>
+              <Synonym lang="en">FLJ10601</Synonym>
+              <Synonym lang="en">FLJ21776</Synonym>
+              <Synonym lang="en">TEM8</Synonym>
+              <Synonym lang="en">Tumor endothelial marker 8 precursor</Synonym>
+              <Synonym lang="en">anthrax toxin receptor</Synonym>
+              <Synonym lang="en">tumor endothelial marker 8 precursor</Synonym>
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+                <Reference>ENSG00000169604</Reference>
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+                <Reference>ANTXR1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H6X2</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="19140">
+            <Name lang="en">kinase insert domain receptor</Name>
+            <Symbol>KDR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CD309</Synonym>
+              <Synonym lang="en">FLK1</Synonym>
+              <Synonym lang="en">VEGFR</Synonym>
+              <Synonym lang="en">VEGFR2</Synonym>
+              <Synonym lang="en">fetal liver kinase 1</Synonym>
+              <Synonym lang="en">vascular endothelial growth factor receptor 2</Synonym>
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+                <Source>SwissProt</Source>
+                <Reference>P35968</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128052</Reference>
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+                <Reference>6307</Reference>
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+                <Reference>1813</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
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+      <OrphaCode>464311</OrphaCode>
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+      <Name lang="en">Intellectual disability syndrome due to a DYRK1A point mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25944381[PMID]_25641759[PMID]_26677511[PMID]</SourceOfValidation>
+          <Gene id="20280">
+            <Name lang="en">dual specificity tyrosine phosphorylation regulated kinase 1A</Name>
+            <Symbol>DYRK1A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83204">
+                <Source>IUPHAR</Source>
+                <Reference>2009</Reference>
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+              <ExternalReference id="52200">
+                <Source>OMIM</Source>
+                <Reference>600855</Reference>
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+              <ExternalReference id="60257">
+                <Source>Reactome</Source>
+                <Reference>Q13627</Reference>
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+              <ExternalReference id="52202">
+                <Source>SwissProt</Source>
+                <Reference>Q13627</Reference>
+              </ExternalReference>
+              <ExternalReference id="60256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157540</Reference>
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+              <ExternalReference id="52201">
+                <Source>Genatlas</Source>
+                <Reference>DYRK1A</Reference>
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+              <ExternalReference id="52199">
+                <Source>HGNC</Source>
+                <Reference>3091</Reference>
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+            <LocusList count="1">
+              <Locus id="11505">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="24023">
+      <OrphaCode>464366</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=464366</ExpertLink>
+      <Name lang="en">NEK9-related lethal skeletal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26908619[PMID]</SourceOfValidation>
+          <Gene id="23883">
+            <Name lang="en">NIMA related kinase 9</Name>
+            <Symbol>NEK9</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DKFZp434D0935</Synonym>
+              <Synonym lang="en">MGC16714</Synonym>
+              <Synonym lang="en">NERCC</Synonym>
+              <Synonym lang="en">NERCC1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="103855">
+                <Source>HGNC</Source>
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+              <ExternalReference id="103856">
+                <Source>OMIM</Source>
+                <Reference>609798</Reference>
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+              <ExternalReference id="103857">
+                <Source>Genatlas</Source>
+                <Reference>NEK9</Reference>
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+              <ExternalReference id="103858">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD19</Reference>
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+              <ExternalReference id="103859">
+                <Source>Reactome</Source>
+                <Reference>Q8TD19</Reference>
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+              <ExternalReference id="103860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119638</Reference>
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+    <Disorder id="24020">
+      <OrphaCode>464336</OrphaCode>
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+      <Name lang="en">BENTA disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23129749[PMID]_25352053[PMID]_25930198[PMID]</SourceOfValidation>
+          <Gene id="22042">
+            <Name lang="en">caspase recruitment domain family member 11</Name>
+            <Symbol>CARD11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BIMP3</Synonym>
+              <Synonym lang="en">CARMA1</Synonym>
+              <Synonym lang="en">bcl10-interacting maguk protein 3</Synonym>
+              <Synonym lang="en">card-maguk protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83801">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198286</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CARD11</Reference>
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+              <ExternalReference id="79108">
+                <Source>HGNC</Source>
+                <Reference>16393</Reference>
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+              <ExternalReference id="79109">
+                <Source>OMIM</Source>
+                <Reference>607210</Reference>
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+              <ExternalReference id="83800">
+                <Source>Reactome</Source>
+                <Reference>Q9BXL7</Reference>
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+                <Reference>Q9BXL7</Reference>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23430903[PMID]_26260076[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84015">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133103</Reference>
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+              <ExternalReference id="81808">
+                <Source>Genatlas</Source>
+                <Reference>COG6</Reference>
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+                <Reference>18621</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606977</Reference>
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+              <ExternalReference id="98105">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2V7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2V7</Reference>
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+      <Name lang="en">Primary dystonia, DYT27 type</Name>
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+            <Symbol>COL6A3</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163359</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL6A3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2213</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P12111</Reference>
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+      <Name lang="en">Neonatal alloimmune neutropenia</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">mastermind like domain containing 1</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">inositol polyphosphate multikinase</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151151</Reference>
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+      <Name lang="en">Infantile multisystem neurologic-endocrine-pancreatic disease</Name>
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+            <Symbol>PTRH2</Symbol>
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+              <Synonym lang="en">Bcl-2 inhibitor of transcription</Synonym>
+              <Synonym lang="en">CFAP37</Synonym>
+              <Synonym lang="en">CGI-147</Synonym>
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+                <Source>Genatlas</Source>
+                <Reference>PTRH2</Reference>
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+              <ExternalReference id="101086">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3E5</Reference>
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+              <ExternalReference id="101087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141378</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y3E5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23677">
+      <OrphaCode>456318</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=456318</ExpertLink>
+      <Name lang="en">Hereditary sensory neuropathy-deafness-dementia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21532572[PMID]_23365052[PMID]</SourceOfValidation>
+          <Gene id="20282">
+            <Name lang="en">DNA methyltransferase 1</Name>
+            <Symbol>DNMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CXXC9</Synonym>
+              <Synonym lang="en">MCMT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130816</Reference>
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+              <ExternalReference id="52217">
+                <Source>Genatlas</Source>
+                <Reference>DNMT1</Reference>
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+              <ExternalReference id="52215">
+                <Source>HGNC</Source>
+                <Reference>2976</Reference>
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+              <ExternalReference id="83205">
+                <Source>IUPHAR</Source>
+                <Reference>2605</Reference>
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+              <ExternalReference id="52216">
+                <Source>OMIM</Source>
+                <Reference>126375</Reference>
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+              <ExternalReference id="87999">
+                <Source>Reactome</Source>
+                <Reference>P26358</Reference>
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+              <ExternalReference id="52218">
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+                <Reference>P26358</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=454840</ExpertLink>
+      <Name lang="en">NTHL1-related attenuated familial adenomatous polyposis</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25938944[PMID]_26559593[PMID]</SourceOfValidation>
+          <Gene id="23744">
+            <Name lang="en">nth like DNA glycosylase 1</Name>
+            <Symbol>NTHL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NTH1</Synonym>
+              <Synonym lang="en">OCTS3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="101182">
+                <Source>HGNC</Source>
+                <Reference>8028</Reference>
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+              <ExternalReference id="101183">
+                <Source>OMIM</Source>
+                <Reference>602656</Reference>
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+              <ExternalReference id="101184">
+                <Source>Genatlas</Source>
+                <Reference>NTHL1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P78549</Reference>
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+              <ExternalReference id="101186">
+                <Source>Reactome</Source>
+                <Reference>P78549</Reference>
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+              <ExternalReference id="101187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065057</Reference>
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+      <Name lang="en">Pleomorphic salivary gland adenoma</Name>
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+        <Name lang="en">Histopathological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>21394649[PMID]_23821214[PMID]</SourceOfValidation>
+          <Gene id="23743">
+            <Name lang="en">PLAG1 zinc finger</Name>
+            <Symbol>PLAG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ZNF912</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="101175">
+                <Source>Genatlas</Source>
+                <Reference>PLAG1</Reference>
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+              <ExternalReference id="101176">
+                <Source>SwissProt</Source>
+                <Reference>Q6DJT9</Reference>
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+              <ExternalReference id="101177">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181690</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9045</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21394649[PMID]_23821214[PMID]</SourceOfValidation>
+          <Gene id="19582">
+            <Name lang="en">high mobility group AT-hook 2</Name>
+            <Symbol>HMGA2</Symbol>
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+              <Synonym lang="en">BABL</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>5009</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P52926</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149948</Reference>
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+      <Name lang="en">Kuru</Name>
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+            <Name lang="en">prion protein</Name>
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+              <Synonym lang="en">CD230</Synonym>
+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171867</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Polyendocrine-polyneuropathy syndrome</Name>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TDJ6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104093</Reference>
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+              <Synonym lang="en">FLJ10998</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095485</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>CWF19L1</Reference>
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+      <Name lang="en">Familial congenital nasolacrimal duct obstruction</Name>
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+                <Reference>ENSG00000143061</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>5950</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603491</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75054</Reference>
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+      <Name lang="en">Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation</Name>
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+            <Name lang="en">heterogeneous nuclear ribonucleoprotein K</Name>
+            <Symbol>HNRNPK</Symbol>
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+              <Synonym lang="en">CSBP</Synonym>
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+              <Synonym lang="en">transformation upregulated nuclear protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>5044</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600712</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HNRNPK</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P61978</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P61978</Reference>
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+                <Source>Ensembl</Source>
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+                <GeneLocus>9q21.32</GeneLocus>
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+      <Name lang="en">Congenital insensitivity to pain with severe intellectual disability</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26068709[PMID]</SourceOfValidation>
+          <Gene id="23739">
+            <Name lang="en">clathrin heavy chain like 1</Name>
+            <Symbol>CLTCL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHC22</Synonym>
+              <Synonym lang="en">CLH22</Synonym>
+              <Synonym lang="en">CLTD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="101117">
+                <Source>HGNC</Source>
+                <Reference>2093</Reference>
+              </ExternalReference>
+              <ExternalReference id="101118">
+                <Source>OMIM</Source>
+                <Reference>601273</Reference>
+              </ExternalReference>
+              <ExternalReference id="101119">
+                <Source>Genatlas</Source>
+                <Reference>CLTCL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="101120">
+                <Source>SwissProt</Source>
+                <Reference>P53675</Reference>
+              </ExternalReference>
+              <ExternalReference id="101121">
+                <Source>Reactome</Source>
+                <Reference>P53675</Reference>
+              </ExternalReference>
+              <ExternalReference id="101122">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070371</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22899">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23616">
+      <OrphaCode>449291</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=449291</ExpertLink>
+      <Name lang="en">Symptomatic form of fragile X syndrome in female carriers</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301558[PMID]</SourceOfValidation>
+          <Gene id="16063">
+            <Name lang="en">fragile X messenger ribonucleoprotein 1</Name>
+            <Symbol>FMR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FMRP</Synonym>
+              <Synonym lang="en">FRAXA</Synonym>
+              <Synonym lang="en">MGC87458</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="56832">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102081</Reference>
+              </ExternalReference>
+              <ExternalReference id="29531">
+                <Source>Genatlas</Source>
+                <Reference>FMR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29529">
+                <Source>HGNC</Source>
+                <Reference>3775</Reference>
+              </ExternalReference>
+              <ExternalReference id="29528">
+                <Source>OMIM</Source>
+                <Reference>309550</Reference>
+              </ExternalReference>
+              <ExternalReference id="33078">
+                <Source>SwissProt</Source>
+                <Reference>Q06787</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8569">
+                <GeneLocus>Xq27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="23611">
+      <OrphaCode>449262</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=449262</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Primary bile acid malabsorption</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9109432[PMID]</SourceOfValidation>
+          <Gene id="23732">
+            <Name lang="en">solute carrier family 10 member 2</Name>
+            <Symbol>SLC10A2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="101061">
+                <Source>HGNC</Source>
+                <Reference>10906</Reference>
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+              <ExternalReference id="101062">
+                <Source>OMIM</Source>
+                <Reference>601295</Reference>
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+              <ExternalReference id="101063">
+                <Source>Genatlas</Source>
+                <Reference>SLC10A2</Reference>
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+              <ExternalReference id="101064">
+                <Source>SwissProt</Source>
+                <Reference>Q12908</Reference>
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+              <ExternalReference id="101065">
+                <Source>Reactome</Source>
+                <Reference>Q12908</Reference>
+              </ExternalReference>
+              <ExternalReference id="101066">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125255</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>960</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23565">
+      <OrphaCode>448264</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=448264</ExpertLink>
+      <Name lang="en">Isolated focal non-epidermolytic palmoplantar keratoderma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>25285920[PMID]</SourceOfValidation>
+          <Gene id="20910">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 3</Name>
+            <Symbol>TRPV3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VRL3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83316">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167723</Reference>
+              </ExternalReference>
+              <ExternalReference id="61334">
+                <Source>Genatlas</Source>
+                <Reference>TRPV3</Reference>
+              </ExternalReference>
+              <ExternalReference id="61332">
+                <Source>HGNC</Source>
+                <Reference>18084</Reference>
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+              <ExternalReference id="83317">
+                <Source>IUPHAR</Source>
+                <Reference>509</Reference>
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+              <ExternalReference id="61333">
+                <Source>OMIM</Source>
+                <Reference>607066</Reference>
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+              <ExternalReference id="83315">
+                <Source>Reactome</Source>
+                <Reference>Q8NET8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NET8</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8595410[PMID]</SourceOfValidation>
+          <Gene id="16318">
+            <Name lang="en">keratin 16</Name>
+            <Symbol>KRT16</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEPPK</Synonym>
+              <Synonym lang="en">focal non-epidermolytic palmoplantar keratoderma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58176">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186832</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KRT16</Reference>
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+                <Reference>6423</Reference>
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+                <Source>OMIM</Source>
+                <Reference>148067</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P08779</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08779</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23564">
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+      <Name lang="en">Progressive autosomal recessive ataxia-deafness syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 9 member A1</Name>
+            <Symbol>SLC9A1</Symbol>
+            <SynonymList count="2">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>107310</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC9A1</Reference>
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+              <ExternalReference id="100906">
+                <Source>SwissProt</Source>
+                <Reference>P19634</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090020</Reference>
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+                <Reference>948</Reference>
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+      <OrphaCode>448267</OrphaCode>
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+      <Name lang="en">Regressive spondylometaphyseal dysplasia</Name>
+      <DisorderType id="21401">
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">lamin B receptor</Name>
+            <Symbol>LBR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DHCR14B</Synonym>
+              <Synonym lang="en">TDRD18</Synonym>
+              <Synonym lang="en">tudor domain containing 18</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q14739</Reference>
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+              <ExternalReference id="33405">
+                <Source>SwissProt</Source>
+                <Reference>Q14739</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143815</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="23561">
+      <OrphaCode>448010</OrphaCode>
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+      <Name lang="en">CAD-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase</Name>
+            <Symbol>CAD</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084774</Reference>
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+                <Reference>1424</Reference>
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+                <Reference>114010</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P27708</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27708</Reference>
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+      <OrphaCode>447997</OrphaCode>
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+      <Name lang="en">Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome</Name>
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+            <Name lang="en">solute carrier family 1 member 4</Name>
+            <Symbol>SLC1A4</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">SATT</Synonym>
+              <Synonym lang="en">alanine/serine/cysteine/threonine transporter</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>SLC1A4</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>P43007</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115902</Reference>
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+      <OrphaCode>448242</OrphaCode>
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+      <Name lang="en">Autosomal recessive brachyolmia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">3'-phosphoadenosine 5'-phosphosulfate synthase 2</Name>
+            <Symbol>PAPSS2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ATPSK2</Synonym>
+              <Synonym lang="en">PAPS synthase 2</Synonym>
+              <Synonym lang="en">adenosine 5'-phosphosulfate kinase</Synonym>
+              <Synonym lang="en">adenylyl-sulfate kinase</Synonym>
+              <Synonym lang="en">bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2</Synonym>
+              <Synonym lang="en">sulfate adenylyltransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59675">
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+                <Reference>ENSG00000198682</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PAPSS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8604</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603005</Reference>
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+              <ExternalReference id="59676">
+                <Source>Reactome</Source>
+                <Reference>O95340</Reference>
+              </ExternalReference>
+              <ExternalReference id="33672">
+                <Source>SwissProt</Source>
+                <Reference>O95340</Reference>
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+            <LocusList count="1">
+              <Locus id="22825">
+                <GeneLocus>10q23.2-q23.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23557">
+      <OrphaCode>447977</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=447977</ExpertLink>
+      <Name lang="en">Progressive scapulohumeroperoneal distal myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25938801[PMID]</SourceOfValidation>
+          <Gene id="15075">
+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEM3</Synonym>
+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Reference>102610</Reference>
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+              <ExternalReference id="57338">
+                <Source>Reactome</Source>
+                <Reference>P68133</Reference>
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+              <ExternalReference id="32353">
+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143632</Reference>
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+              <ExternalReference id="24782">
+                <Source>Genatlas</Source>
+                <Reference>ACTA1</Reference>
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+              <ExternalReference id="24784">
+                <Source>HGNC</Source>
+                <Reference>129</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>447974</OrphaCode>
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+      <Name lang="en">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25748484[PMID]</SourceOfValidation>
+          <Gene id="23702">
+            <Name lang="en">myosin XVIIIB</Name>
+            <Symbol>MYO18B</Symbol>
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+              <Synonym lang="en">BK125H2.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>18150</Reference>
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+              <ExternalReference id="100944">
+                <Source>OMIM</Source>
+                <Reference>607295</Reference>
+              </ExternalReference>
+              <ExternalReference id="100945">
+                <Source>Genatlas</Source>
+                <Reference>MYO18B</Reference>
+              </ExternalReference>
+              <ExternalReference id="100946">
+                <Source>SwissProt</Source>
+                <Reference>Q8IUG5</Reference>
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+              <ExternalReference id="100947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133454</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          </DisorderGeneAssociationStatus>
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+    <Disorder id="23558">
+      <OrphaCode>447980</OrphaCode>
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+      <Name lang="en">19p13.3 microduplication syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29184170[PMID]</SourceOfValidation>
+          <Gene id="19319">
+            <Name lang="en">nuclear factor I X</Name>
+            <Symbol>NFIX</Symbol>
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+              <Synonym lang="en">CCAAT-binding transcription factor</Synonym>
+              <Synonym lang="en">NF1A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58209">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008441</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NFIX</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q14938</Reference>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 25</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>ENSG00000247626</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2V</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+    </Disorder>
+    <Disorder id="23770">
+      <OrphaCode>459056</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=459056</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 75</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26179919[PMID]</SourceOfValidation>
+          <Gene id="23834">
+            <Name lang="en">myelin associated glycoprotein</Name>
+            <Symbol>MAG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">S-MAG</Synonym>
+              <Synonym lang="en">SIGLEC-4A</Synonym>
+              <Synonym lang="en">SIGLEC4A</Synonym>
+              <Synonym lang="en">sialic acid binding Ig-like lectin 4A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103596">
+                <Source>HGNC</Source>
+                <Reference>6783</Reference>
+              </ExternalReference>
+              <ExternalReference id="103597">
+                <Source>OMIM</Source>
+                <Reference>159460</Reference>
+              </ExternalReference>
+              <ExternalReference id="103598">
+                <Source>Genatlas</Source>
+                <Reference>MAG</Reference>
+              </ExternalReference>
+              <ExternalReference id="103599">
+                <Source>SwissProt</Source>
+                <Reference>P20916</Reference>
+              </ExternalReference>
+              <ExternalReference id="103600">
+                <Source>Reactome</Source>
+                <Reference>P20916</Reference>
+              </ExternalReference>
+              <ExternalReference id="103601">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105695</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    </Disorder>
+    <Disorder id="23772">
+      <OrphaCode>459070</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=459070</ExpertLink>
+      <Name lang="en">X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26290468[PMID]</SourceOfValidation>
+          <Gene id="15228">
+            <Name lang="en">ribosomal protein L10</Name>
+            <Symbol>RPL10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DXS648</Synonym>
+              <Synonym lang="en">DXS648E</Synonym>
+              <Synonym lang="en">FLJ23544</Synonym>
+              <Synonym lang="en">L10</Synonym>
+              <Synonym lang="en">NOV</Synonym>
+              <Synonym lang="en">QM</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57165">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147403</Reference>
+              </ExternalReference>
+              <ExternalReference id="37337">
+                <Source>Genatlas</Source>
+                <Reference>RPL10</Reference>
+              </ExternalReference>
+              <ExternalReference id="25514">
+                <Source>HGNC</Source>
+                <Reference>10298</Reference>
+              </ExternalReference>
+              <ExternalReference id="25513">
+                <Source>OMIM</Source>
+                <Reference>312173</Reference>
+              </ExternalReference>
+              <ExternalReference id="57166">
+                <Source>Reactome</Source>
+                <Reference>P27635</Reference>
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+              <ExternalReference id="33786">
+                <Source>SwissProt</Source>
+                <Reference>P27635</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23748">
+      <OrphaCode>458713</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=458713</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Specific language impairment</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="23839">
+            <Name lang="en">nuclear transcription factor, X-box binding like 1</Name>
+            <Symbol>NFXL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HOZFP</Synonym>
+              <Synonym lang="en">ovarian zinc finger protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="103630">
+                <Source>HGNC</Source>
+                <Reference>18726</Reference>
+              </ExternalReference>
+              <ExternalReference id="103631">
+                <Source>Genatlas</Source>
+                <Reference>NFXL1</Reference>
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+              <ExternalReference id="103632">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZNB6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170448</Reference>
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+                <GeneLocus>4p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="23756">
+      <OrphaCode>458798</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=458798</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 41</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25477146[PMID]</SourceOfValidation>
+          <Gene id="23836">
+            <Name lang="en">transient receptor potential cation channel subfamily C member 3</Name>
+            <Symbol>TRPC3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="103609">
+                <Source>OMIM</Source>
+                <Reference>602345</Reference>
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+              <ExternalReference id="103610">
+                <Source>Genatlas</Source>
+                <Reference>TRPC3</Reference>
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+              <ExternalReference id="103608">
+                <Source>HGNC</Source>
+                <Reference>12335</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13507</Reference>
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+              <ExternalReference id="103612">
+                <Source>Reactome</Source>
+                <Reference>Q13507</Reference>
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+              <ExternalReference id="103613">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138741</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>488</Reference>
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+              <Locus id="20183">
+                <GeneLocus>4q27</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23757">
+      <OrphaCode>458803</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=458803</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 42</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26456284[PMID]_26715324[PMID]</SourceOfValidation>
+          <Gene id="23838">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 G</Name>
+            <Symbol>CACNA1G</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Cav3.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43497</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43497</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006283</Reference>
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+      <Name lang="en">Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mechanistic target of rapamycin kinase</Name>
+            <Symbol>MTOR</Symbol>
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+              <Synonym lang="en">FKBP-rapamycin associated protein</Synonym>
+              <Synonym lang="en">FKBP12-rapamycin complex-associated protein 1</Synonym>
+              <Synonym lang="en">FLJ44809</Synonym>
+              <Synonym lang="en">RAFT1</Synonym>
+              <Synonym lang="en">RAPT1</Synonym>
+              <Synonym lang="en">dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)</Synonym>
+              <Synonym lang="en">mammalian target of rapamycin</Synonym>
+              <Synonym lang="en">rapamycin and FKBP12 target 1</Synonym>
+              <Synonym lang="en">rapamycin associated protein FRAP2</Synonym>
+              <Synonym lang="en">rapamycin target protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198793</Reference>
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+                <Reference>2109</Reference>
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+      <Name lang="en">Progressive myoclonic epilepsy type 9</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">lamin B2</Name>
+            <Symbol>LMNB2</Symbol>
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+            </SynonymList>
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+              <ExternalReference id="59276">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176619</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6638</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q03252</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q03252</Reference>
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+            <Name lang="en">protein phosphatase 2 regulatory subunit B'delta</Name>
+            <Symbol>PPP2R5D</Symbol>
+            <SynonymList count="2">
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112640</Reference>
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+      <Name lang="en">X-linked intellectual disability-hypotonia-movement disorder syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">DEAD-box helicase 3 X-linked</Name>
+            <Symbol>DDX3X</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAP-Rf</Synonym>
+              <Synonym lang="en">DBX</Synonym>
+              <Synonym lang="en">DDX14</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000215301</Reference>
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+                <Reference>DDX3X</Reference>
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+                <Reference>2745</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>O00571</Reference>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23714">
+      <OrphaCode>457240</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457240</ExpertLink>
+      <Name lang="en">X-linked intellectual disability-short stature-overweight syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26166480[PMID]</SourceOfValidation>
+          <Gene id="23801">
+            <Name lang="en">THO complex subunit 2</Name>
+            <Symbol>THOC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">THO2</Synonym>
+              <Synonym lang="en">dJ506G2.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103439">
+                <Source>HGNC</Source>
+                <Reference>19073</Reference>
+              </ExternalReference>
+              <ExternalReference id="103440">
+                <Source>OMIM</Source>
+                <Reference>300395</Reference>
+              </ExternalReference>
+              <ExternalReference id="103441">
+                <Source>Genatlas</Source>
+                <Reference>THOC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="103442">
+                <Source>SwissProt</Source>
+                <Reference>Q8NI27</Reference>
+              </ExternalReference>
+              <ExternalReference id="103443">
+                <Source>Reactome</Source>
+                <Reference>Q8NI27</Reference>
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+              <ExternalReference id="103444">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125676</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22271">
+                <GeneLocus>Xq25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23715">
+      <OrphaCode>457246</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457246</ExpertLink>
+      <Name lang="en">Clear cell sarcoma of kidney</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26098867[PMID]</SourceOfValidation>
+          <Gene id="15364">
+            <Name lang="en">BCL6 corepressor</Name>
+            <Symbol>BCOR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL-6 coreceptor</Synonym>
+              <Synonym lang="en">BCL6 interacting corepressor</Synonym>
+              <Synonym lang="en">FLJ20285</Synonym>
+              <Synonym lang="en">KIAA1575</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143981">
+                <Source>Reactome</Source>
+                <Reference>Q6W2J9</Reference>
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+              <ExternalReference id="26167">
+                <Source>Genatlas</Source>
+                <Reference>BCOR</Reference>
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+              <ExternalReference id="26165">
+                <Source>HGNC</Source>
+                <Reference>20893</Reference>
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+              <ExternalReference id="26164">
+                <Source>OMIM</Source>
+                <Reference>300485</Reference>
+              </ExternalReference>
+              <ExternalReference id="33921">
+                <Source>SwissProt</Source>
+                <Reference>Q6W2J9</Reference>
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+              <ExternalReference id="57113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183337</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22294382[PMID]</SourceOfValidation>
+          <Gene id="20276">
+            <Name lang="en">tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon</Name>
+            <Symbol>YWHAE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">14-3-3 epsilon</Synonym>
+              <Synonym lang="en">FLJ45465</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108953</Reference>
+              </ExternalReference>
+              <ExternalReference id="52130">
+                <Source>Genatlas</Source>
+                <Reference>YWHAE</Reference>
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+              <ExternalReference id="52128">
+                <Source>HGNC</Source>
+                <Reference>12851</Reference>
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+              <ExternalReference id="52129">
+                <Source>OMIM</Source>
+                <Reference>605066</Reference>
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+              <ExternalReference id="60341">
+                <Source>Reactome</Source>
+                <Reference>P62258</Reference>
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+              <ExternalReference id="52131">
+                <Source>SwissProt</Source>
+                <Reference>P62258</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11497">
+                <GeneLocus>17p13.3</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22294382[PMID]</SourceOfValidation>
+          <Gene id="23228">
+            <Name lang="en">NUT family member 2B</Name>
+            <Symbol>NUTM2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">bA119F19.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="95663">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188199</Reference>
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+              <ExternalReference id="95664">
+                <Source>Genatlas</Source>
+                <Reference>FAM22B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23445</Reference>
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+              <ExternalReference id="95662">
+                <Source>SwissProt</Source>
+                <Reference>A6NNL0</Reference>
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+              <Locus id="15235">
+                <GeneLocus>10q22.3</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22294382[PMID]</SourceOfValidation>
+          <Gene id="23799">
+            <Name lang="en">NUT family member 2E</Name>
+            <Symbol>NUTM2E</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="103429">
+                <Source>SwissProt</Source>
+                <Reference>B1AL46</Reference>
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+              <ExternalReference id="103430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000228570</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Genatlas</Source>
+                <Reference>FAM22E</Reference>
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+                <GeneLocus>10q22.3</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25481751[PMID]_26493387[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
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+              <ExternalReference id="34945">
+                <Source>Genatlas</Source>
+                <Reference>TERT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
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+              <ExternalReference id="34944">
+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
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+              <ExternalReference id="57328">
+                <Source>Reactome</Source>
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+                <Reference>O14746</Reference>
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+                <GeneLocus>5p15.33</GeneLocus>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25481751[PMID]_26493387[PMID]</SourceOfValidation>
+          <Gene id="23800">
+            <Name lang="en">iroquois homeobox 2</Name>
+            <Symbol>IRX2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>606198</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IRX2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZI1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170561</Reference>
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+                <GeneLocus>5p15.33</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23726">
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+      <Name lang="en">Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ring finger and SPRY domain containing 1</Name>
+            <Symbol>RSPRY1</Symbol>
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+              <Synonym lang="en">KIAA1972</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>RSPRY1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96DX4</Reference>
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+              <ExternalReference id="103472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159579</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23727">
+      <OrphaCode>457406</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457406</ExpertLink>
+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 4</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25539947[PMID]</SourceOfValidation>
+          <Gene id="23794">
+            <Name lang="en">iron-sulfur cluster assembly 2</Name>
+            <Symbol>ISCA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ISA2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>19857</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615317</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ISCA2</Reference>
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+              <ExternalReference id="103386">
+                <Source>SwissProt</Source>
+                <Reference>Q86U28</Reference>
+              </ExternalReference>
+              <ExternalReference id="103387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165898</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86U28</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23724">
+      <OrphaCode>457375</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457375</ExpertLink>
+      <Name lang="en">ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26224535[PMID]</SourceOfValidation>
+          <Gene id="20572">
+            <Name lang="en">inosine triphosphatase</Name>
+            <Symbol>ITPA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HLC14-06-P</Synonym>
+              <Synonym lang="en">dJ794I6.3</Synonym>
+              <Synonym lang="en">nucleoside-triphosphate diphosphatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125877</Reference>
+              </ExternalReference>
+              <ExternalReference id="54596">
+                <Source>Genatlas</Source>
+                <Reference>ITPA</Reference>
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+              <ExternalReference id="54594">
+                <Source>HGNC</Source>
+                <Reference>6176</Reference>
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+                <Source>OMIM</Source>
+                <Reference>147520</Reference>
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+              <ExternalReference id="83221">
+                <Source>Reactome</Source>
+                <Reference>Q9BY32</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BY32</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23725">
+      <OrphaCode>457378</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457378</ExpertLink>
+      <Name lang="en">Complex lethal osteochondrodysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26365339[PMID]</SourceOfValidation>
+          <Gene id="23805">
+            <Name lang="en">transmembrane anterior posterior transformation 1</Name>
+            <Symbol>TAPT1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ90013</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>26887</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612758</Reference>
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+              <ExternalReference id="103463">
+                <Source>Genatlas</Source>
+                <Reference>TAPT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="103464">
+                <Source>SwissProt</Source>
+                <Reference>Q6NXT6</Reference>
+              </ExternalReference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169762</Reference>
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+                <GeneLocus>4p15.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23722">
+      <OrphaCode>457359</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457359</ExpertLink>
+      <Name lang="en">Megalencephaly-severe kyphoscoliosis-overgrowth syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26138117[PMID]_27108999[PMID]</SourceOfValidation>
+          <Gene id="23803">
+            <Name lang="en">HECT and RLD domain containing E3 ubiquitin protein ligase family member 1</Name>
+            <Symbol>HERC1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">p532</Synonym>
+              <Synonym lang="en">p619</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103450">
+                <Source>HGNC</Source>
+                <Reference>4867</Reference>
+              </ExternalReference>
+              <ExternalReference id="103451">
+                <Source>OMIM</Source>
+                <Reference>605109</Reference>
+              </ExternalReference>
+              <ExternalReference id="103452">
+                <Source>Genatlas</Source>
+                <Reference>HERC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="103453">
+                <Source>SwissProt</Source>
+                <Reference>Q15751</Reference>
+              </ExternalReference>
+              <ExternalReference id="103454">
+                <Source>Reactome</Source>
+                <Reference>Q15751</Reference>
+              </ExternalReference>
+              <ExternalReference id="103455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103657</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26079">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23720">
+      <OrphaCode>457284</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457284</ExpertLink>
+      <Name lang="en">Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26168268[PMID]</SourceOfValidation>
+          <Gene id="23797">
+            <Name lang="en">protein phosphatase 2 scaffold subunit Aalpha</Name>
+            <Symbol>PPP2R1A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">PP2A-Aalpha</Synonym>
+              <Synonym lang="en">PP2AA</Synonym>
+              <Synonym lang="en">PR65A</Synonym>
+              <Synonym lang="en">protein phosphatase 2, 65kDa regulatory subunit A</Synonym>
+              <Synonym lang="en">protein phosphatase 2A structural subunit A, alpha isoform</Synonym>
+              <Synonym lang="en">protein phosphatase 2A, regulatory subunit A, alpha isoform</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103410">
+                <Source>HGNC</Source>
+                <Reference>9302</Reference>
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+              <ExternalReference id="103411">
+                <Source>OMIM</Source>
+                <Reference>605983</Reference>
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+              <ExternalReference id="103412">
+                <Source>Genatlas</Source>
+                <Reference>PPP2R1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="103413">
+                <Source>SwissProt</Source>
+                <Reference>P30153</Reference>
+              </ExternalReference>
+              <ExternalReference id="103414">
+                <Source>Reactome</Source>
+                <Reference>P30153</Reference>
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+              <ExternalReference id="103415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105568</Reference>
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+            <LocusList count="1">
+              <Locus id="24541">
+                <GeneLocus>19q13.41</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="23721">
+      <OrphaCode>457351</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457351</ExpertLink>
+      <Name lang="en">Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26299366[PMID]</SourceOfValidation>
+          <Gene id="23808">
+            <Name lang="en">spermatogenesis associated 5</Name>
+            <Symbol>SPATA5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AFG2</Synonym>
+              <Synonym lang="en">ATPase family gene 2 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">SPAF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="103483">
+                <Source>HGNC</Source>
+                <Reference>18119</Reference>
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+              <ExternalReference id="103484">
+                <Source>OMIM</Source>
+                <Reference>613940</Reference>
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+              <ExternalReference id="103485">
+                <Source>Genatlas</Source>
+                <Reference>SPATA5</Reference>
+              </ExternalReference>
+              <ExternalReference id="103486">
+                <Source>SwissProt</Source>
+                <Reference>Q8NB90</Reference>
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+              <ExternalReference id="103487">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145375</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20113">
+                <GeneLocus>4q28.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23703">
+      <OrphaCode>457185</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=457185</ExpertLink>
+      <Name lang="en">Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25658047[PMID]_26185144[PMID]</SourceOfValidation>
+          <Gene id="23793">
+            <Name lang="en">coenzyme Q4</Name>
+            <Symbol>COQ4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CGI-92</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="103377">
+                <Source>OMIM</Source>
+                <Reference>612898</Reference>
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+              <ExternalReference id="103376">
+                <Source>HGNC</Source>
+                <Reference>19693</Reference>
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+              <ExternalReference id="103378">
+                <Source>Genatlas</Source>
+                <Reference>COQ4</Reference>
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+              <ExternalReference id="103379">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3A0</Reference>
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+              <ExternalReference id="103380">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167113</Reference>
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+            <LocusList count="1">
+              <Locus id="22375">
+                <GeneLocus>9q34.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23698">
+      <OrphaCode>457088</OrphaCode>
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+      <Name lang="en">Predisposition to invasive fungal disease due to CARD9 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19864672[PMID]_24131138[PMID]</SourceOfValidation>
+          <Gene id="18982">
+            <Name lang="en">caspase recruitment domain family member 9</Name>
+            <Symbol>CARD9</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187796</Reference>
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+              <ExternalReference id="44507">
+                <Source>Genatlas</Source>
+                <Reference>CARD9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16391</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607212</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H257</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H257</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="23709">
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+      <Name lang="en">Syndromic sensorineural deafness due to combined oxidative phosphorylation defect</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="23796">
+            <Name lang="en">mitochondrial ribosomal protein S7</Name>
+            <Symbol>MRPS7</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2R9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2R9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125445</Reference>
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+      <Name lang="en">Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</Name>
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+            <Name lang="en">solute carrier family 6 member 17</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197106</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>943</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H1V8</Reference>
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+    <Disorder id="23705">
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+      <Name lang="en">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</Name>
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+            <Name lang="en">lysine acetyltransferase 6A</Name>
+            <Symbol>KAT6A</Symbol>
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+              <Synonym lang="en">MOZ</Synonym>
+              <Synonym lang="en">Monocytic leukemia zinc finger protein</Synonym>
+              <Synonym lang="en">ZC2HC6A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083168</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">glycogenin 1</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163754</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GYG1</Reference>
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+                <Reference>4699</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P46976</Reference>
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+      <Name lang="en">Autosomal dominant mitochondrial myopathy with exercise intolerance</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="22968">
+            <Name lang="en">coiled-coil-helix-coiled-coil-helix domain containing 10</Name>
+            <Symbol>CHCHD10</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MIX17 homolog A</Synonym>
+              <Synonym lang="en">MIX17A</Synonym>
+              <Synonym lang="en">N27C7-4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126440">
+                <Source>Reactome</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+              <ExternalReference id="91952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000250479</Reference>
+              </ExternalReference>
+              <ExternalReference id="91707">
+                <Source>Genatlas</Source>
+                <Reference>CHCHD10</Reference>
+              </ExternalReference>
+              <ExternalReference id="91705">
+                <Source>HGNC</Source>
+                <Reference>15559</Reference>
+              </ExternalReference>
+              <ExternalReference id="91706">
+                <Source>OMIM</Source>
+                <Reference>615903</Reference>
+              </ExternalReference>
+              <ExternalReference id="91708">
+                <Source>SwissProt</Source>
+                <Reference>Q8WYQ3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26863">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7021">
+      <OrphaCode>651</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=651</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Idiopathic infantile nystagmus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18431453[PMID]_18087240[PMID]</SourceOfValidation>
+          <Gene id="16074">
+            <Name lang="en">FERM domain containing 7</Name>
+            <Symbol>FRMD7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ43346</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58749">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165694</Reference>
+              </ExternalReference>
+              <ExternalReference id="37464">
+                <Source>Genatlas</Source>
+                <Reference>FRMD7</Reference>
+              </ExternalReference>
+              <ExternalReference id="29581">
+                <Source>HGNC</Source>
+                <Reference>8079</Reference>
+              </ExternalReference>
+              <ExternalReference id="29580">
+                <Source>OMIM</Source>
+                <Reference>300628</Reference>
+              </ExternalReference>
+              <ExternalReference id="33089">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZUT3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8591">
+                <GeneLocus>Xq26.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18523664[PMID]_19390656[PMID]_17516023[PMID]</SourceOfValidation>
+          <Gene id="16163">
+            <Name lang="en">G protein-coupled receptor 143</Name>
+            <Symbol>GPR143</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ocular albinism 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100300">
+                <Source>Reactome</Source>
+                <Reference>P51810</Reference>
+              </ExternalReference>
+              <ExternalReference id="57406">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101850</Reference>
+              </ExternalReference>
+              <ExternalReference id="30012">
+                <Source>Genatlas</Source>
+                <Reference>GPR143</Reference>
+              </ExternalReference>
+              <ExternalReference id="30014">
+                <Source>HGNC</Source>
+                <Reference>20145</Reference>
+              </ExternalReference>
+              <ExternalReference id="82936">
+                <Source>IUPHAR</Source>
+                <Reference>203</Reference>
+              </ExternalReference>
+              <ExternalReference id="46526">
+                <Source>OMIM</Source>
+                <Reference>300808</Reference>
+              </ExternalReference>
+              <ExternalReference id="33182">
+                <Source>SwissProt</Source>
+                <Reference>P51810</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21679">
+                <GeneLocus>Xp22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7023">
+      <OrphaCode>317</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=317</ExpertLink>
+      <Name lang="en">Erythrokeratodermia variabilis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25398053[PMID]</SourceOfValidation>
+          <Gene id="16125">
+            <Name lang="en">gap junction protein alpha 1</Name>
+            <Symbol>GJA1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CX43</Synonym>
+              <Synonym lang="en">ODD</Synonym>
+              <Synonym lang="en">ODOD</Synonym>
+              <Synonym lang="en">SDTY3</Synonym>
+              <Synonym lang="en">connexin 43</Synonym>
+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152661</Reference>
+              </ExternalReference>
+              <ExternalReference id="29829">
+                <Source>Genatlas</Source>
+                <Reference>GJA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29827">
+                <Source>HGNC</Source>
+                <Reference>4274</Reference>
+              </ExternalReference>
+              <ExternalReference id="29826">
+                <Source>OMIM</Source>
+                <Reference>121014</Reference>
+              </ExternalReference>
+              <ExternalReference id="57354">
+                <Source>Reactome</Source>
+                <Reference>P17302</Reference>
+              </ExternalReference>
+              <ExternalReference id="33140">
+                <Source>SwissProt</Source>
+                <Reference>P17302</Reference>
+              </ExternalReference>
+              <ExternalReference id="193603">
+                <Source>IUPHAR</Source>
+                <Reference>728</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66615">
+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23037955[PMID]</SourceOfValidation>
+          <Gene id="16132">
+            <Name lang="en">gap junction protein beta 4</Name>
+            <Symbol>GJB4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CX30.3</Synonym>
+              <Synonym lang="en">connexin 30.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58750">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189433</Reference>
+              </ExternalReference>
+              <ExternalReference id="37468">
+                <Source>Genatlas</Source>
+                <Reference>GJB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="29862">
+                <Source>HGNC</Source>
+                <Reference>4286</Reference>
+              </ExternalReference>
+              <ExternalReference id="29861">
+                <Source>OMIM</Source>
+                <Reference>605425</Reference>
+              </ExternalReference>
+              <ExternalReference id="58751">
+                <Source>Reactome</Source>
+                <Reference>Q9NTQ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="33147">
+                <Source>SwissProt</Source>
+                <Reference>Q9NTQ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="193588">
+                <Source>IUPHAR</Source>
+                <Reference>719</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66585">
+                <GeneLocus>1p34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21564177[PMID]</SourceOfValidation>
+          <Gene id="16131">
+            <Name lang="en">gap junction protein beta 3</Name>
+            <Symbol>GJB3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CX31</Synonym>
+              <Synonym lang="en">connexin 31</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="29857">
+                <Source>HGNC</Source>
+                <Reference>4285</Reference>
+              </ExternalReference>
+              <ExternalReference id="29856">
+                <Source>OMIM</Source>
+                <Reference>603324</Reference>
+              </ExternalReference>
+              <ExternalReference id="58157">
+                <Source>Reactome</Source>
+                <Reference>O75712</Reference>
+              </ExternalReference>
+              <ExternalReference id="33146">
+                <Source>SwissProt</Source>
+                <Reference>O75712</Reference>
+              </ExternalReference>
+              <ExternalReference id="58156">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188910</Reference>
+              </ExternalReference>
+              <ExternalReference id="29859">
+                <Source>Genatlas</Source>
+                <Reference>GJB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="193591">
+                <Source>IUPHAR</Source>
+                <Reference>720</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66591">
+                <GeneLocus>1p34.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28575652[PMID]</SourceOfValidation>
+          <Gene id="25406">
+            <Name lang="en">3-ketodihydrosphingosine reductase</Name>
+            <Symbol>KDSR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">3-dehydrosphinganine reductase</Synonym>
+              <Synonym lang="en">DHSR</Synonym>
+              <Synonym lang="en">SDR35C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 35C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="142731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119537</Reference>
+              </ExternalReference>
+              <ExternalReference id="142732">
+                <Source>OMIM</Source>
+                <Reference>136440</Reference>
+              </ExternalReference>
+              <ExternalReference id="142733">
+                <Source>SwissProt</Source>
+                <Reference>Q06136</Reference>
+              </ExternalReference>
+              <ExternalReference id="190744">
+                <Source>IUPHAR</Source>
+                <Reference>2463</Reference>
+              </ExternalReference>
+              <ExternalReference id="142730">
+                <Source>HGNC</Source>
+                <Reference>4021</Reference>
+              </ExternalReference>
+              <ExternalReference id="142734">
+                <Source>Genatlas</Source>
+                <Reference>KDSR</Reference>
+              </ExternalReference>
+              <ExternalReference id="142735">
+                <Source>Reactome</Source>
+                <Reference>R-HSA-428134</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>18q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="7024">
+      <OrphaCode>629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=629</ExpertLink>
+      <Name lang="en">Short stature due to growth hormone qualitative anomaly</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8552145[PMID]_9276733[PMID]_15713716[PMID]</SourceOfValidation>
+          <Gene id="16121">
+            <Name lang="en">growth hormone 1</Name>
+            <Symbol>GH1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GH</Synonym>
+              <Synonym lang="en">GH-N</Synonym>
+              <Synonym lang="en">GHN</Synonym>
+              <Synonym lang="en">hGH-N</Synonym>
+              <Synonym lang="en">pituitary growth hormone</Synonym>
+              <Synonym lang="en">somatotropin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58752">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000259384</Reference>
+              </ExternalReference>
+              <ExternalReference id="29809">
+                <Source>Genatlas</Source>
+                <Reference>GH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29807">
+                <Source>HGNC</Source>
+                <Reference>4261</Reference>
+              </ExternalReference>
+              <ExternalReference id="29806">
+                <Source>OMIM</Source>
+                <Reference>139250</Reference>
+              </ExternalReference>
+              <ExternalReference id="58753">
+                <Source>Reactome</Source>
+                <Reference>P01241</Reference>
+              </ExternalReference>
+              <ExternalReference id="33136">
+                <Source>SwissProt</Source>
+                <Reference>P01241</Reference>
+              </ExternalReference>
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+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="7025">
+      <OrphaCode>632</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=632</ExpertLink>
+      <Name lang="en">Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8013627[PMID]_9554752[PMID]_22139958[PMID]</SourceOfValidation>
+          <Gene id="15383">
+            <Name lang="en">Bruton tyrosine kinase</Name>
+            <Symbol>BTK</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATK</Synonym>
+              <Synonym lang="en">Bruton's tyrosine kinase</Synonym>
+              <Synonym lang="en">PSCTK1</Synonym>
+              <Synonym lang="en">XLA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010671</Reference>
+              </ExternalReference>
+              <ExternalReference id="26255">
+                <Source>Genatlas</Source>
+                <Reference>BTK</Reference>
+              </ExternalReference>
+              <ExternalReference id="26257">
+                <Source>HGNC</Source>
+                <Reference>1133</Reference>
+              </ExternalReference>
+              <ExternalReference id="82794">
+                <Source>IUPHAR</Source>
+                <Reference>1948</Reference>
+              </ExternalReference>
+              <ExternalReference id="26256">
+                <Source>OMIM</Source>
+                <Reference>300300</Reference>
+              </ExternalReference>
+              <ExternalReference id="56863">
+                <Source>Reactome</Source>
+                <Reference>Q06187</Reference>
+              </ExternalReference>
+              <ExternalReference id="33940">
+                <Source>SwissProt</Source>
+                <Reference>Q06187</Reference>
+              </ExternalReference>
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+              <Locus id="25809">
+                <GeneLocus>Xq22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18180883[PMID]</SourceOfValidation>
+          <Gene id="21210">
+            <Name lang="en">E74 like ETS transcription factor 4</Name>
+            <Symbol>ELF4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ELFR</Synonym>
+              <Synonym lang="en">MEF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102034</Reference>
+              </ExternalReference>
+              <ExternalReference id="70459">
+                <Source>Genatlas</Source>
+                <Reference>ELF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="70457">
+                <Source>HGNC</Source>
+                <Reference>3319</Reference>
+              </ExternalReference>
+              <ExternalReference id="70458">
+                <Source>OMIM</Source>
+                <Reference>300775</Reference>
+              </ExternalReference>
+              <ExternalReference id="70460">
+                <Source>SwissProt</Source>
+                <Reference>Q99607</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              <Locus id="23913">
+                <GeneLocus>Xq26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7026">
+      <OrphaCode>248</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=248</ExpertLink>
+      <Name lang="en">Autosomal recessive hypohidrotic ectodermal dysplasia</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15909">
+            <Name lang="en">ectodysplasin A receptor</Name>
+            <Symbol>EDAR</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ED1R</Synonym>
+              <Synonym lang="en">ED5</Synonym>
+              <Synonym lang="en">EDA1R</Synonym>
+              <Synonym lang="en">EDA3</Synonym>
+              <Synonym lang="en">Edar</Synonym>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17460043[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57327">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
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+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>O14746</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17392301[PMID]_18753630[PMID]</SourceOfValidation>
+          <Gene id="16790">
+            <Name lang="en">telomerase RNA component</Name>
+            <Symbol>TERC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">SCARNA19</Synonym>
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+              <Synonym lang="en">TRC3</Synonym>
+              <Synonym lang="en">hTR</Synonym>
+              <Synonym lang="en">small Cajal body-specific RNA 19</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+              <ExternalReference id="91547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000270141</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TERC</Reference>
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+                <Source>HGNC</Source>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21506741[PMID]_21506748[PMID]</SourceOfValidation>
+          <Gene id="20158">
+            <Name lang="en">mucin 5B, oligomeric mucus/gel-forming</Name>
+            <Symbol>MUC5B</Symbol>
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+              <Synonym lang="en">MG1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117983</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MUC5B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7516</Reference>
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+                <Reference>600770</Reference>
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+              <ExternalReference id="58757">
+                <Source>Reactome</Source>
+                <Reference>Q9HC84</Reference>
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+                <Reference>Q9HC84</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19100526[PMID]</SourceOfValidation>
+          <Gene id="20274">
+            <Name lang="en">surfactant protein A2</Name>
+            <Symbol>SFTPA2</Symbol>
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+              <Synonym lang="en">COLEC5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000185303</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10799</Reference>
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+                <Source>OMIM</Source>
+                <Reference>178642</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8IWL1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IWL1</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25848748[PMID]</SourceOfValidation>
+          <Gene id="21975">
+            <Name lang="en">regulator of telomere elongation helicase 1</Name>
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+              <Synonym lang="en">bK3184A7.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258366</Reference>
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+                <Reference>RTEL1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>23583980[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138640</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107960</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">Phospholipid-translocating ATPase</Synonym>
+              <Synonym lang="en">Potential phospholipid-transporting ATPase IH</Synonym>
+              <Synonym lang="en">phospholipid-translocating ATPase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068650</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">dipeptidyl peptidase 9</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142002</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2357</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608258</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25848748[PMID]</SourceOfValidation>
+          <Gene id="23221">
+            <Name lang="en">poly(A)-specific ribonuclease</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140694</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8609</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O95453</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P11686</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <LocusList count="1">
+              <Locus id="60243">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7035">
+      <OrphaCode>198</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=198</ExpertLink>
+      <Name lang="en">Occipital horn syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301586[PMID]</SourceOfValidation>
+          <Gene id="15329">
+            <Name lang="en">ATPase copper transporting alpha</Name>
+            <Symbol>ATP7A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">copper pump 1</Synonym>
+              <Synonym lang="en">copper-transporting ATPase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193549">
+                <Source>IUPHAR</Source>
+                <Reference>852</Reference>
+              </ExternalReference>
+              <ExternalReference id="57097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="25999">
+                <Source>Genatlas</Source>
+                <Reference>ATP7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25997">
+                <Source>HGNC</Source>
+                <Reference>869</Reference>
+              </ExternalReference>
+              <ExternalReference id="25996">
+                <Source>OMIM</Source>
+                <Reference>300011</Reference>
+              </ExternalReference>
+              <ExternalReference id="57098">
+                <Source>Reactome</Source>
+                <Reference>Q04656</Reference>
+              </ExternalReference>
+              <ExternalReference id="33886">
+                <Source>SwissProt</Source>
+                <Reference>Q04656</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66507">
+                <GeneLocus>Xq21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="7036">
+      <OrphaCode>891</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=891</ExpertLink>
+      <Name lang="en">Familial exudative vitreoretinopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28575650[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
+              </ExternalReference>
+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
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+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24375">
+                <GeneLocus>3p22.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301326[PMID]</SourceOfValidation>
+          <Gene id="16085">
+            <Name lang="en">frizzled class receptor 4</Name>
+            <Symbol>FZD4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD344</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174804</Reference>
+              </ExternalReference>
+              <ExternalReference id="29631">
+                <Source>Genatlas</Source>
+                <Reference>FZD4</Reference>
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+              <ExternalReference id="29633">
+                <Source>HGNC</Source>
+                <Reference>4042</Reference>
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+              <ExternalReference id="82922">
+                <Source>IUPHAR</Source>
+                <Reference>232</Reference>
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+              <ExternalReference id="29632">
+                <Source>OMIM</Source>
+                <Reference>604579</Reference>
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+              <ExternalReference id="58765">
+                <Source>Reactome</Source>
+                <Reference>Q9ULV1</Reference>
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+              <ExternalReference id="33100">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULV1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18547">
+                <GeneLocus>11q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301326[PMID]</SourceOfValidation>
+          <Gene id="16372">
+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
+              </ExternalReference>
+              <ExternalReference id="31002">
+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
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+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
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+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
+              </ExternalReference>
+              <ExternalReference id="33437">
+                <Source>SwissProt</Source>
+                <Reference>O75197</Reference>
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+            <LocusList count="1">
+              <Locus id="24603">
+                <GeneLocus>11q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301506[PMID]</SourceOfValidation>
+          <Gene id="16523">
+            <Name lang="en">norrin cystine knot growth factor NDP</Name>
+            <Symbol>NDP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">norrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142931">
+                <Source>Reactome</Source>
+                <Reference>Q00604</Reference>
+              </ExternalReference>
+              <ExternalReference id="56948">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124479</Reference>
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+              <ExternalReference id="31699">
+                <Source>Genatlas</Source>
+                <Reference>NDP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7678</Reference>
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+              <ExternalReference id="70915">
+                <Source>OMIM</Source>
+                <Reference>300658</Reference>
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+              <ExternalReference id="33588">
+                <Source>SwissProt</Source>
+                <Reference>Q00604</Reference>
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+                <GeneLocus>Xp11.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301326[PMID]</SourceOfValidation>
+          <Gene id="18991">
+            <Name lang="en">tetraspanin 12</Name>
+            <Symbol>TSPAN12</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NET-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106025</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TSPAN12</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21641</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613138</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95859</Reference>
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+                <GeneLocus>7q31.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23716659[PMID]</SourceOfValidation>
+          <Gene id="22228">
+            <Name lang="en">zinc finger protein 408</Name>
+            <Symbol>ZNF408</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ12827</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175213</Reference>
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+              <ExternalReference id="80211">
+                <Source>Genatlas</Source>
+                <Reference>ZNF408</Reference>
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+              <ExternalReference id="80210">
+                <Source>HGNC</Source>
+                <Reference>20041</Reference>
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+              <ExternalReference id="96054">
+                <Source>OMIM</Source>
+                <Reference>616454</Reference>
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+              <ExternalReference id="80212">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9D4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H9D4</Reference>
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+                <GeneLocus>11p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="7037">
+      <OrphaCode>225</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=225</ExpertLink>
+      <Name lang="en">Maternally-inherited diabetes and deafness</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>9353617[PMID]</SourceOfValidation>
+          <Gene id="16981">
+            <Name lang="en">mitochondrially encoded tRNA-Glu (GAA/G)</Name>
+            <Symbol>MT-TE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnE</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83061">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210194</Reference>
+              </ExternalReference>
+              <ExternalReference id="35889">
+                <Source>Genatlas</Source>
+                <Reference>MT-TE</Reference>
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+              <ExternalReference id="35887">
+                <Source>HGNC</Source>
+                <Reference>7479</Reference>
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+              <ExternalReference id="35888">
+                <Source>OMIM</Source>
+                <Reference>590025</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7910800[PMID]</SourceOfValidation>
+          <Gene id="16841">
+            <Name lang="en">mitochondrially encoded tRNA-Leu (UUA/G) 1</Name>
+            <Symbol>MT-TL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TRNL1</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="83042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000209082</Reference>
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+              <ExternalReference id="35211">
+                <Source>Genatlas</Source>
+                <Reference>MT-TL1</Reference>
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+              <ExternalReference id="35210">
+                <Source>HGNC</Source>
+                <Reference>7490</Reference>
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+              <ExternalReference id="35884">
+                <Source>OMIM</Source>
+                <Reference>590050</Reference>
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+                <GeneLocus>mitochondria</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9571188[PMID]</SourceOfValidation>
+          <Gene id="16842">
+            <Name lang="en">mitochondrially encoded tRNA-Lys (AAA/G)</Name>
+            <Symbol>MT-TK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">trnK</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="83043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210156</Reference>
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+              <ExternalReference id="35213">
+                <Source>Genatlas</Source>
+                <Reference>MT-TK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7489</Reference>
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+                <Source>OMIM</Source>
+                <Reference>590060</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24158">
+      <OrphaCode>466688</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466688</ExpertLink>
+      <Name lang="en">Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25388005[PMID]</SourceOfValidation>
+          <Gene id="25119">
+            <Name lang="en">FERM domain containing 4A</Name>
+            <Symbol>FRMD4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ10210</Synonym>
+              <Synonym lang="en">KIAA1294</Synonym>
+              <Synonym lang="en">bA295P9.4</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>25491</Reference>
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+                <Source>OMIM</Source>
+                <Reference>616305</Reference>
+              </ExternalReference>
+              <ExternalReference id="135096">
+                <Source>Genatlas</Source>
+                <Reference>FRMD4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="135097">
+                <Source>SwissProt</Source>
+                <Reference>Q9P2Q2</Reference>
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+              <ExternalReference id="135098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151474</Reference>
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+                <GeneLocus>10p13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="24151">
+      <OrphaCode>466650</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466650</ExpertLink>
+      <Name lang="en">Exercise-induced malignant hyperthermia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23628358[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
+              </ExternalReference>
+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15855">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24185">
+      <OrphaCode>466962</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466962</ExpertLink>
+      <Name lang="en">SMARCA4-deficient sarcoma of thorax</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26343384[PMID]</SourceOfValidation>
+          <Gene id="18993">
+            <Name lang="en">SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4</Name>
+            <Symbol>SMARCA4</Symbol>
+            <SynonymList count="17">
+              <Synonym lang="en">ATP-dependent helicase SMARCA4</Synonym>
+              <Synonym lang="en">BAF190</Synonym>
+              <Synonym lang="en">BRG1</Synonym>
+              <Synonym lang="en">BRM/SWI2-related gene 1</Synonym>
+              <Synonym lang="en">FLJ39786</Synonym>
+              <Synonym lang="en">SNF2</Synonym>
+              <Synonym lang="en">SNF2-BETA</Synonym>
+              <Synonym lang="en">SNF2-like 4</Synonym>
+              <Synonym lang="en">SNF2LB</Synonym>
+              <Synonym lang="en">SWI2</Synonym>
+              <Synonym lang="en">brahma protein-like 1</Synonym>
+              <Synonym lang="en">global transcription activator homologous sequence</Synonym>
+              <Synonym lang="en">hSNF2b</Synonym>
+              <Synonym lang="en">homeotic gene regulator</Synonym>
+              <Synonym lang="en">mitotic growth and transcription activator</Synonym>
+              <Synonym lang="en">nuclear protein GRB1</Synonym>
+              <Synonym lang="en">sucrose nonfermenting-like 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="60392">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127616</Reference>
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+              <ExternalReference id="44562">
+                <Source>Genatlas</Source>
+                <Reference>SMARCA4</Reference>
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+              <ExternalReference id="44563">
+                <Source>HGNC</Source>
+                <Reference>11100</Reference>
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+              <ExternalReference id="87990">
+                <Source>IUPHAR</Source>
+                <Reference>2740</Reference>
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+              <ExternalReference id="44564">
+                <Source>OMIM</Source>
+                <Reference>603254</Reference>
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+              <ExternalReference id="87989">
+                <Source>Reactome</Source>
+                <Reference>P51532</Reference>
+              </ExternalReference>
+              <ExternalReference id="44565">
+                <Source>SwissProt</Source>
+                <Reference>P51532</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26045">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="24183">
+      <OrphaCode>466950</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466950</ExpertLink>
+      <Name lang="en">Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26264232[PMID]</SourceOfValidation>
+          <Gene id="25031">
+            <Name lang="en">WW domain containing adaptor with coiled-coil</Name>
+            <Symbol>WAC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BM-016</Synonym>
+              <Synonym lang="en">FLJ31290</Synonym>
+              <Synonym lang="en">MGC10753</Synonym>
+              <Synonym lang="en">PRO1741</Synonym>
+              <Synonym lang="en">Wwp4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="133657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095787</Reference>
+              </ExternalReference>
+              <ExternalReference id="135080">
+                <Source>Reactome</Source>
+                <Reference>Q9BTA9</Reference>
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+              <ExternalReference id="131848">
+                <Source>HGNC</Source>
+                <Reference>17327</Reference>
+              </ExternalReference>
+              <ExternalReference id="133295">
+                <Source>SwissProt</Source>
+                <Reference>Q9BTA9</Reference>
+              </ExternalReference>
+              <ExternalReference id="132566">
+                <Source>OMIM</Source>
+                <Reference>615049</Reference>
+              </ExternalReference>
+              <ExternalReference id="134972">
+                <Source>Genatlas</Source>
+                <Reference>WAC</Reference>
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+            <LocusList count="1">
+              <Locus id="35991">
+                <GeneLocus>10p12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="24178">
+      <OrphaCode>466926</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466926</ExpertLink>
+      <Name lang="en">Seizures-scoliosis-macrocephaly syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26246518[PMID]</SourceOfValidation>
+          <Gene id="16005">
+            <Name lang="en">exostosin glycosyltransferase 2</Name>
+            <Symbol>EXT2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase</Synonym>
+              <Synonym lang="en">N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase</Synonym>
+              <Synonym lang="en">SOTV</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58420">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151348</Reference>
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+              <ExternalReference id="29229">
+                <Source>Genatlas</Source>
+                <Reference>EXT2</Reference>
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+              <ExternalReference id="29231">
+                <Source>HGNC</Source>
+                <Reference>3513</Reference>
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+              <ExternalReference id="29230">
+                <Source>OMIM</Source>
+                <Reference>608210</Reference>
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+              <ExternalReference id="82905">
+                <Source>Reactome</Source>
+                <Reference>Q93063</Reference>
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+              <ExternalReference id="33019">
+                <Source>SwissProt</Source>
+                <Reference>Q93063</Reference>
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+                <GeneLocus>11p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24179">
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+      <Name lang="en">VPS11-related autosomal recessive hypomyelinating leukodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26307567[PMID]</SourceOfValidation>
+          <Gene id="25109">
+            <Name lang="en">VPS11 core subunit of CORVET and HOPS complexes</Name>
+            <Symbol>VPS11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PEP5</Synonym>
+              <Synonym lang="en">RNF108</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="134965">
+                <Source>HGNC</Source>
+                <Reference>14583</Reference>
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+              <ExternalReference id="134966">
+                <Source>OMIM</Source>
+                <Reference>608549</Reference>
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+              <ExternalReference id="134967">
+                <Source>Genatlas</Source>
+                <Reference>VPS11</Reference>
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+              <ExternalReference id="134968">
+                <Source>SwissProt</Source>
+                <Reference>Q9H270</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160695</Reference>
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+              <Locus id="35837">
+                <GeneLocus>11q23.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="24176">
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+      <Name lang="en">Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">titin</Name>
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+              <Synonym lang="en">CMH9</Synonym>
+              <Synonym lang="en">CMPD4</Synonym>
+              <Synonym lang="en">FLJ32040</Synonym>
+              <Synonym lang="en">LGMD2J</Synonym>
+              <Synonym lang="en">MYLK5</Synonym>
+              <Synonym lang="en">TMD</Synonym>
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+              <ExternalReference id="57481">
+                <Source>Reactome</Source>
+                <Reference>Q8WZ42</Reference>
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+              <ExternalReference id="32644">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZ42</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+                <Reference>TTN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12403</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2265</Reference>
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+      <OrphaCode>466806</OrphaCode>
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+      <Name lang="en">Autosomal dominant thrombocytopenia with platelet secretion defect</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">schlafen family member 14</Name>
+            <Symbol>SLFN14</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>614958</Reference>
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+              <ExternalReference id="133190">
+                <Source>SwissProt</Source>
+                <Reference>P0C7P3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000236320</Reference>
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+      <OrphaCode>466801</OrphaCode>
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+      <Name lang="en">LIMS2-related limb-girdle muscular dystrophy</Name>
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+          <SourceOfValidation>25589244[PMID]</SourceOfValidation>
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+            <Name lang="en">LIM zinc finger domain containing 2</Name>
+            <Symbol>LIMS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PINCH-2</Synonym>
+              <Synonym lang="en">PINCH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000072163</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z4I7</Reference>
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+                <Reference>607908</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z4I7</Reference>
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+      <Name lang="en">Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome</Name>
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+          <Gene id="24889">
+            <Name lang="en">SCY1 like pseudokinase 1</Name>
+            <Symbol>SCYL1</Symbol>
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+              <Synonym lang="en">MGC78454</Synonym>
+              <Synonym lang="en">NKTL</Synonym>
+              <Synonym lang="en">P105</Synonym>
+              <Synonym lang="en">TAPK</Synonym>
+              <Synonym lang="en">TEIF</Synonym>
+              <Synonym lang="en">TRAP</Synonym>
+              <Synonym lang="en">telomerase regulation-associated protein</Synonym>
+              <Synonym lang="en">telomerase transcriptional elements-interacting factor</Synonym>
+              <Synonym lang="en">teratoma-associated tyrosine kinase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>607982</Reference>
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+              <ExternalReference id="133849">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142186</Reference>
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+                <Reference>14372</Reference>
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+                <Reference>SCYL1</Reference>
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+              <Locus id="35863">
+                <GeneLocus>11q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24169">
+      <OrphaCode>466791</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466791</ExpertLink>
+      <Name lang="en">Macrocephaly-intellectual disability-left ventricular non compaction syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26571461[PMID]</SourceOfValidation>
+          <Gene id="21872">
+            <Name lang="en">non-POU domain containing octamer binding</Name>
+            <Symbol>NONO</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">NMT55</Synonym>
+              <Synonym lang="en">NRB54</Synonym>
+              <Synonym lang="en">Nuclear RNA-binding protein, 54-kD</Synonym>
+              <Synonym lang="en">P54</Synonym>
+              <Synonym lang="en">P54NRB</Synonym>
+              <Synonym lang="en">PPP1R114</Synonym>
+              <Synonym lang="en">non-Pou domain-containing octamer (ATGCAAAT) binding protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 114</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143884">
+                <Source>Reactome</Source>
+                <Reference>Q15233</Reference>
+              </ExternalReference>
+              <ExternalReference id="83671">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147140</Reference>
+              </ExternalReference>
+              <ExternalReference id="77125">
+                <Source>Genatlas</Source>
+                <Reference>NONO</Reference>
+              </ExternalReference>
+              <ExternalReference id="77123">
+                <Source>HGNC</Source>
+                <Reference>7871</Reference>
+              </ExternalReference>
+              <ExternalReference id="77124">
+                <Source>OMIM</Source>
+                <Reference>300084</Reference>
+              </ExternalReference>
+              <ExternalReference id="77126">
+                <Source>SwissProt</Source>
+                <Reference>Q15233</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39233">
+                <GeneLocus>Xq13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24168">
+      <OrphaCode>466784</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466784</ExpertLink>
+      <Name lang="en">Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26522469[PMID]</SourceOfValidation>
+          <Gene id="25111">
+            <Name lang="en">solute carrier family 25 member 26</Name>
+            <Symbol>SLC25A26</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="134993">
+                <Source>HGNC</Source>
+                <Reference>20661</Reference>
+              </ExternalReference>
+              <ExternalReference id="134994">
+                <Source>OMIM</Source>
+                <Reference>611037</Reference>
+              </ExternalReference>
+              <ExternalReference id="134995">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A26</Reference>
+              </ExternalReference>
+              <ExternalReference id="134996">
+                <Source>SwissProt</Source>
+                <Reference>Q70HW3</Reference>
+              </ExternalReference>
+              <ExternalReference id="134997">
+                <Source>Reactome</Source>
+                <Reference>Q70HW3</Reference>
+              </ExternalReference>
+              <ExternalReference id="134998">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144741</Reference>
+              </ExternalReference>
+              <ExternalReference id="134999">
+                <Source>IUPHAR</Source>
+                <Reference>1074</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35881">
+                <GeneLocus>3p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24167">
+      <OrphaCode>466775</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466775</ExpertLink>
+      <Name lang="en">Autosomal recessive Charcot-Marie-Tooth disease type 2X</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26556829[PMID]</SourceOfValidation>
+          <Gene id="15544">
+            <Name lang="en">SPG11 vesicle trafficking associated, spatacsin</Name>
+            <Symbol>SPG11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ21439</Synonym>
+              <Synonym lang="en">spatacsin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58288">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104133</Reference>
+              </ExternalReference>
+              <ExternalReference id="36354">
+                <Source>Genatlas</Source>
+                <Reference>SPG11</Reference>
+              </ExternalReference>
+              <ExternalReference id="27039">
+                <Source>HGNC</Source>
+                <Reference>11226</Reference>
+              </ExternalReference>
+              <ExternalReference id="27038">
+                <Source>OMIM</Source>
+                <Reference>610844</Reference>
+              </ExternalReference>
+              <ExternalReference id="32515">
+                <Source>SwissProt</Source>
+                <Reference>Q96JI7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14417">
+                <GeneLocus>15q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24166">
+      <OrphaCode>466768</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466768</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2Z</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26497905[PMID]</SourceOfValidation>
+          <Gene id="24710">
+            <Name lang="en">MORC family CW-type zinc finger 2</Name>
+            <Symbol>MORC2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AC004542.C22.1</Synonym>
+              <Synonym lang="en">KIAA0852</Synonym>
+              <Synonym lang="en">ZCW3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142923">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6X9</Reference>
+              </ExternalReference>
+              <ExternalReference id="132258">
+                <Source>OMIM</Source>
+                <Reference>616661</Reference>
+              </ExternalReference>
+              <ExternalReference id="131527">
+                <Source>HGNC</Source>
+                <Reference>23573</Reference>
+              </ExternalReference>
+              <ExternalReference id="135003">
+                <Source>Genatlas</Source>
+                <Reference>MORC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="134015">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133422</Reference>
+              </ExternalReference>
+              <ExternalReference id="132983">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6X9</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37565">
+                <GeneLocus>22q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24163">
+      <OrphaCode>466729</OrphaCode>
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+      <Name lang="en">Familial patent arterial duct</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21643846[PMID]</SourceOfValidation>
+          <Gene id="15601">
+            <Name lang="en">transcription factor AP-2 beta</Name>
+            <Symbol>TFAP2B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AP-2beta</Synonym>
+              <Synonym lang="en">AP2-B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59080">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008196</Reference>
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+              <ExternalReference id="27311">
+                <Source>Genatlas</Source>
+                <Reference>TFAP2B</Reference>
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+              <ExternalReference id="27313">
+                <Source>HGNC</Source>
+                <Reference>11743</Reference>
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+              <ExternalReference id="69962">
+                <Source>OMIM</Source>
+                <Reference>601601</Reference>
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+              <ExternalReference id="32572">
+                <Source>SwissProt</Source>
+                <Reference>Q92481</Reference>
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+              <ExternalReference id="126329">
+                <Source>Reactome</Source>
+                <Reference>Q92481</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27181681[PMID]</SourceOfValidation>
+          <Gene id="23896">
+            <Name lang="en">PR/SET domain 6</Name>
+            <Symbol>PRDM6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KMT8C</Synonym>
+              <Synonym lang="en">PRISM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="103920">
+                <Source>HGNC</Source>
+                <Reference>9350</Reference>
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+              <ExternalReference id="103921">
+                <Source>OMIM</Source>
+                <Reference>616982</Reference>
+              </ExternalReference>
+              <ExternalReference id="103922">
+                <Source>Genatlas</Source>
+                <Reference>PRDM6</Reference>
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+              <ExternalReference id="103923">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQX0</Reference>
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+              <ExternalReference id="103924">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000061455</Reference>
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+                <GeneLocus>5q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24162">
+      <OrphaCode>466722</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466722</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 77</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26553276[PMID]</SourceOfValidation>
+          <Gene id="21551">
+            <Name lang="en">phenylalanyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>FARS2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'phenylalanine tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">Phenylalanine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">dJ236A3.1</Synonym>
+              <Synonym lang="en">mtPheRS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83522">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145982</Reference>
+              </ExternalReference>
+              <ExternalReference id="73766">
+                <Source>Genatlas</Source>
+                <Reference>FARS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="73764">
+                <Source>HGNC</Source>
+                <Reference>21062</Reference>
+              </ExternalReference>
+              <ExternalReference id="73765">
+                <Source>OMIM</Source>
+                <Reference>611592</Reference>
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+              <ExternalReference id="83521">
+                <Source>Reactome</Source>
+                <Reference>O95363</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95363</Reference>
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+                <GeneLocus>6p25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>466718</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466718</ExpertLink>
+      <Name lang="en">Martinique crinkled retinal pigment epitheliopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26744326[PMID]</SourceOfValidation>
+          <Gene id="25120">
+            <Name lang="en">MAPK activated protein kinase 3</Name>
+            <Symbol>MAPKAPK3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">3PK</Synonym>
+              <Synonym lang="en">3pK</Synonym>
+              <Synonym lang="en">MAPKAP3</Synonym>
+              <Synonym lang="en">MK-3</Synonym>
+              <Synonym lang="en">MK3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>602130</Reference>
+              </ExternalReference>
+              <ExternalReference id="135103">
+                <Source>Genatlas</Source>
+                <Reference>MAPKAPK3</Reference>
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+              <ExternalReference id="135104">
+                <Source>SwissProt</Source>
+                <Reference>Q16644</Reference>
+              </ExternalReference>
+              <ExternalReference id="135105">
+                <Source>Reactome</Source>
+                <Reference>Q16644</Reference>
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+              <ExternalReference id="135106">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114738</Reference>
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+                <Reference>2095</Reference>
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+    <Disorder id="24160">
+      <OrphaCode>466703</OrphaCode>
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+      <Name lang="en">TMEM199-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26833330[PMID]</SourceOfValidation>
+          <Gene id="24988">
+            <Name lang="en">transmembrane protein 199</Name>
+            <Symbol>TMEM199</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MGC45714</Synonym>
+              <Synonym lang="en">VMA12</Synonym>
+              <Synonym lang="en">VPH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143301">
+                <Source>Reactome</Source>
+                <Reference>Q8N511</Reference>
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+              <ExternalReference id="133547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244045</Reference>
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+              <ExternalReference id="135091">
+                <Source>Genatlas</Source>
+                <Reference>TMEM199</Reference>
+              </ExternalReference>
+              <ExternalReference id="133252">
+                <Source>SwissProt</Source>
+                <Reference>Q8N511</Reference>
+              </ExternalReference>
+              <ExternalReference id="132525">
+                <Source>OMIM</Source>
+                <Reference>616815</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>18085</Reference>
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+              <Locus id="38319">
+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="24074">
+      <OrphaCode>465824</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=465824</ExpertLink>
+      <Name lang="en">Fetal encasement syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20961246[PMID]</SourceOfValidation>
+          <Gene id="24278">
+            <Name lang="en">component of inhibitor of nuclear factor kappa B kinase complex</Name>
+            <Symbol>CHUK</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">I-kappa-B kinase</Synonym>
+              <Synonym lang="en">IKK-alpha</Synonym>
+              <Synonym lang="en">IKK1</Synonym>
+              <Synonym lang="en">IKKA</Synonym>
+              <Synonym lang="en">IkBKA</Synonym>
+              <Synonym lang="en">NFKBIKA</Synonym>
+              <Synonym lang="en">inhibitor of nuclear factor kappa-B kinase subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="130122">
+                <Source>HGNC</Source>
+                <Reference>1974</Reference>
+              </ExternalReference>
+              <ExternalReference id="130123">
+                <Source>OMIM</Source>
+                <Reference>600664</Reference>
+              </ExternalReference>
+              <ExternalReference id="130124">
+                <Source>Genatlas</Source>
+                <Reference>CHUK</Reference>
+              </ExternalReference>
+              <ExternalReference id="130125">
+                <Source>SwissProt</Source>
+                <Reference>O15111</Reference>
+              </ExternalReference>
+              <ExternalReference id="130126">
+                <Source>Reactome</Source>
+                <Reference>O15111</Reference>
+              </ExternalReference>
+              <ExternalReference id="130127">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213341</Reference>
+              </ExternalReference>
+              <ExternalReference id="130128">
+                <Source>IUPHAR</Source>
+                <Reference>1989</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="27037">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24102">
+      <OrphaCode>466026</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=466026</ExpertLink>
+      <Name lang="en">Class I glucose-6-phosphate dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7577654[PMID]</SourceOfValidation>
+          <Gene id="16087">
+            <Name lang="en">glucose-6-phosphate dehydrogenase</Name>
+            <Symbol>G6PD</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">G6PD1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57610">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160211</Reference>
+              </ExternalReference>
+              <ExternalReference id="29641">
+                <Source>Genatlas</Source>
+                <Reference>G6PD</Reference>
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+              <ExternalReference id="29643">
+                <Source>HGNC</Source>
+                <Reference>4057</Reference>
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+              <ExternalReference id="29642">
+                <Source>OMIM</Source>
+                <Reference>305900</Reference>
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+              <ExternalReference id="57611">
+                <Source>Reactome</Source>
+                <Reference>P11413</Reference>
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+              <ExternalReference id="33102">
+                <Source>SwissProt</Source>
+                <Reference>P11413</Reference>
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+                <GeneLocus>Xq28</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24220">
+      <OrphaCode>468620</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468620</ExpertLink>
+      <Name lang="en">Intellectual disability-epilepsy-extrapyramidal syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26048982[PMID]</SourceOfValidation>
+          <Gene id="23144">
+            <Name lang="en">DEAF1 transcription factor</Name>
+            <Symbol>DEAF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NUDR</Synonym>
+              <Synonym lang="en">SPN</Synonym>
+              <Synonym lang="en">ZMYND5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95325">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177030</Reference>
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+              <ExternalReference id="95323">
+                <Source>Genatlas</Source>
+                <Reference>DEAF1</Reference>
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+              <ExternalReference id="95321">
+                <Source>HGNC</Source>
+                <Reference>14677</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="95324">
+                <Source>SwissProt</Source>
+                <Reference>O75398</Reference>
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+              <ExternalReference id="143434">
+                <Source>Reactome</Source>
+                <Reference>O75398</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Microcephalic cortical malformations-short stature due to RTTN deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26608784[PMID]</SourceOfValidation>
+          <Gene id="21616">
+            <Name lang="en">rotatin</Name>
+            <Symbol>RTTN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZP434G145</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83595">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176225</Reference>
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+              <ExternalReference id="75343">
+                <Source>Genatlas</Source>
+                <Reference>RTTN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18654</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610436</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86VV8</Reference>
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+      <Name lang="en">Tubulinopathy-associated dysgyria</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">tubulin alpha 1a</Name>
+            <Symbol>TUBA1A</Symbol>
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+              <Synonym lang="en">FLJ25113</Synonym>
+              <Synonym lang="en">TUBA3</Synonym>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26130693[PMID]</SourceOfValidation>
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+            <Name lang="en">tubulin beta 2B class IIb</Name>
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+                <Reference>30829</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>26130693[PMID]</SourceOfValidation>
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+            <Name lang="en">tubulin beta 3 class III</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q13509</Reference>
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+      <Name lang="en">Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</Name>
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+                <Reference>Q6PII3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154781</Reference>
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+      <Name lang="en">Cryptogenic multifocal ulcerous stenosing enteritis</Name>
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+            <Name lang="en">phospholipase A2 group IVA</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116711</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Chronic enteropathy associated with SLCO2A1 gene</Name>
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+            <Symbol>SLCO2A1</Symbol>
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+              <Synonym lang="en">PGT</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174640</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>10955</Reference>
+              </ExternalReference>
+              <ExternalReference id="60711">
+                <Source>OMIM</Source>
+                <Reference>601460</Reference>
+              </ExternalReference>
+              <ExternalReference id="83244">
+                <Source>Reactome</Source>
+                <Reference>Q92959</Reference>
+              </ExternalReference>
+              <ExternalReference id="60713">
+                <Source>SwissProt</Source>
+                <Reference>Q92959</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60473">
+                <GeneLocus>3q22.1-q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24230">
+      <OrphaCode>468661</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468661</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 74</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25609768[PMID]</SourceOfValidation>
+          <Gene id="22397">
+            <Name lang="en">iron-sulfur cluster assembly factor IBA57</Name>
+            <Symbol>IBA57</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa'</Synonym>
+              <Synonym lang="en">FLJ12734</Synonym>
+              <Synonym lang="en">Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="84013">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181873</Reference>
+              </ExternalReference>
+              <ExternalReference id="81791">
+                <Source>Genatlas</Source>
+                <Reference>IBA57</Reference>
+              </ExternalReference>
+              <ExternalReference id="81789">
+                <Source>HGNC</Source>
+                <Reference>27302</Reference>
+              </ExternalReference>
+              <ExternalReference id="81790">
+                <Source>OMIM</Source>
+                <Reference>615316</Reference>
+              </ExternalReference>
+              <ExternalReference id="81792">
+                <Source>SwissProt</Source>
+                <Reference>Q5T440</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12821">
+                <GeneLocus>1q42.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="24231">
+      <OrphaCode>468666</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468666</ExpertLink>
+      <Name lang="en">Isolated generalized anhidrosis with normal sweat glands</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25329695[PMID]</SourceOfValidation>
+          <Gene id="25121">
+            <Name lang="en">inositol 1,4,5-trisphosphate receptor type 2</Name>
+            <Symbol>ITPR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CFAP48</Synonym>
+              <Synonym lang="en">IP3R2</Synonym>
+              <Synonym lang="en">cilia and flagella associated protein 48</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="135115">
+                <Source>HGNC</Source>
+                <Reference>6181</Reference>
+              </ExternalReference>
+              <ExternalReference id="135116">
+                <Source>OMIM</Source>
+                <Reference>600144</Reference>
+              </ExternalReference>
+              <ExternalReference id="135117">
+                <Source>Genatlas</Source>
+                <Reference>ITPR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="135118">
+                <Source>SwissProt</Source>
+                <Reference>Q14571</Reference>
+              </ExternalReference>
+              <ExternalReference id="135119">
+                <Source>Reactome</Source>
+                <Reference>Q14571</Reference>
+              </ExternalReference>
+              <ExternalReference id="135120">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123104</Reference>
+              </ExternalReference>
+              <ExternalReference id="135121">
+                <Source>IUPHAR</Source>
+                <Reference>744</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36053">
+                <GeneLocus>12p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="24234">
+      <OrphaCode>468678</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468678</ExpertLink>
+      <Name lang="en">White-Sutton syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26739615[PMID]</SourceOfValidation>
+          <Gene id="24819">
+            <Name lang="en">pogo transposable element derived with ZNF domain</Name>
+            <Symbol>POGZ</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA0461</Synonym>
+              <Synonym lang="en">ZNF280E</Synonym>
+              <Synonym lang="en">ZNF635</Synonym>
+              <Synonym lang="en">ZNF635m</Synonym>
+              <Synonym lang="en">putative protein product of Nbla00003</Synonym>
+              <Synonym lang="en">zinc finger protein 280E</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142960">
+                <Source>Reactome</Source>
+                <Reference>Q7Z3K3</Reference>
+              </ExternalReference>
+              <ExternalReference id="133085">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3K3</Reference>
+              </ExternalReference>
+              <ExternalReference id="132365">
+                <Source>OMIM</Source>
+                <Reference>614787</Reference>
+              </ExternalReference>
+              <ExternalReference id="131636">
+                <Source>HGNC</Source>
+                <Reference>18801</Reference>
+              </ExternalReference>
+              <ExternalReference id="133371">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143442</Reference>
+              </ExternalReference>
+              <ExternalReference id="134990">
+                <Source>Genatlas</Source>
+                <Reference>POGZ</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37639">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="24235">
+      <OrphaCode>468684</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468684</ExpertLink>
+      <Name lang="en">CCDC115-CDG</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26833332[PMID]</SourceOfValidation>
+          <Gene id="24391">
+            <Name lang="en">coiled-coil domain containing 115</Name>
+            <Symbol>CCDC115</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ30131</Synonym>
+              <Synonym lang="en">MGC12981</Synonym>
+              <Synonym lang="en">ccp1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="131208">
+                <Source>HGNC</Source>
+                <Reference>28178</Reference>
+              </ExternalReference>
+              <ExternalReference id="135089">
+                <Source>Genatlas</Source>
+                <Reference>CCDC115</Reference>
+              </ExternalReference>
+              <ExternalReference id="131955">
+                <Source>OMIM</Source>
+                <Reference>613734</Reference>
+              </ExternalReference>
+              <ExternalReference id="132668">
+                <Source>SwissProt</Source>
+                <Reference>Q96NT0</Reference>
+              </ExternalReference>
+              <ExternalReference id="134111">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136710</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="36007">
+                <GeneLocus>2q21.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24233">
+      <OrphaCode>468672</OrphaCode>
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+      <Name lang="en">Colobomatous macrophthalmia-microcornea syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25561690[PMID]</SourceOfValidation>
+          <Gene id="25106">
+            <Name lang="en">cysteine rich transmembrane BMP regulator 1</Name>
+            <Symbol>CRIM1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="134943">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZV1</Reference>
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+              <ExternalReference id="134944">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150938</Reference>
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+              <ExternalReference id="134940">
+                <Source>HGNC</Source>
+                <Reference>2359</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606189</Reference>
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+                <GeneLocus>2p22.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="24238">
+      <OrphaCode>468726</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=468726</ExpertLink>
+      <Name lang="en">Severe primary trimethylaminuria</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301282[PMID]_19321370[PMID]</SourceOfValidation>
+          <Gene id="16062">
+            <Name lang="en">flavin containing dimethylaniline monoxygenase 3</Name>
+            <Symbol>FMO3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dimethylaniline monooxygenase [N-oxide-forming] 3</Synonym>
+              <Synonym lang="en">FMOII</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58998">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007933</Reference>
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+              <ExternalReference id="37462">
+                <Source>Genatlas</Source>
+                <Reference>FMO3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3771</Reference>
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+              <ExternalReference id="29524">
+                <Source>OMIM</Source>
+                <Reference>136132</Reference>
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+              <ExternalReference id="58999">
+                <Source>Reactome</Source>
+                <Reference>P31513</Reference>
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+              <ExternalReference id="33077">
+                <Source>SwissProt</Source>
+                <Reference>P31513</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>468699</OrphaCode>
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+      <Name lang="en">SLC39A8-CDG</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26637978[PMID]_26637979[PMID]</SourceOfValidation>
+          <Gene id="25112">
+            <Name lang="en">solute carrier family 39 member 8</Name>
+            <Symbol>SLC39A8</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BIGM103</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>20862</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608732</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC39A8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9C0K1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9C0K1</Reference>
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+              <ExternalReference id="135011">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138821</Reference>
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+      <Name lang="en">Rhizomelic chondrodysplasia punctata type 5</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>26220973[PMID]</SourceOfValidation>
+          <Gene id="16646">
+            <Name lang="en">peroxisomal biogenesis factor 5</Name>
+            <Symbol>PEX5</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">peroxisomal import receptor 5</Synonym>
+              <Synonym lang="en">peroxisomal targeting signal 1 receptor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P50542</Reference>
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+              <ExternalReference id="57020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139197</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PEX5</Reference>
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+                <Reference>9719</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600414</Reference>
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+              <ExternalReference id="33750">
+                <Source>SwissProt</Source>
+                <Reference>P50542</Reference>
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+      <Name lang="en">Autosomal recessive spastic paraplegia type 62</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ER lipid raft associated 1</Name>
+            <Symbol>ERLIN1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9</Synonym>
+              <Synonym lang="en">Erlin-1</Synonym>
+              <Synonym lang="en">KE04</Synonym>
+              <Synonym lang="en">SPG62</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>O75477</Reference>
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+                <Reference>611604</Reference>
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+              <ExternalReference id="90378">
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+                <Reference>O75477</Reference>
+              </ExternalReference>
+              <ExternalReference id="91614">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107566</Reference>
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+              <ExternalReference id="90377">
+                <Source>Genatlas</Source>
+                <Reference>ERLIN1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>16947</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26855">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22828">
+      <OrphaCode>401780</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401780</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 61</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22896">
+            <Name lang="en">ADP ribosylation factor like GTPase 6 interacting protein 1</Name>
+            <Symbol>ARL6IP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AIP1</Synonym>
+              <Synonym lang="en">ARMER</Synonym>
+              <Synonym lang="en">KIAA0069</Synonym>
+              <Synonym lang="en">SPG61</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91613">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170540</Reference>
+              </ExternalReference>
+              <ExternalReference id="90372">
+                <Source>Genatlas</Source>
+                <Reference>ARL6IP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90370">
+                <Source>HGNC</Source>
+                <Reference>697</Reference>
+              </ExternalReference>
+              <ExternalReference id="90371">
+                <Source>OMIM</Source>
+                <Reference>607669</Reference>
+              </ExternalReference>
+              <ExternalReference id="90373">
+                <Source>SwissProt</Source>
+                <Reference>Q15041</Reference>
+              </ExternalReference>
+              <ExternalReference id="142872">
+                <Source>Reactome</Source>
+                <Reference>Q15041</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37463">
+                <GeneLocus>16p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22831">
+      <OrphaCode>401800</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401800</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 60</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22899">
+            <Name lang="en">WD repeat domain 48</Name>
+            <Symbol>WDR48</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Bun62</Synonym>
+              <Synonym lang="en">KIAA1449</Synonym>
+              <Synonym lang="en">P80</Synonym>
+              <Synonym lang="en">SPG60</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126437">
+                <Source>Reactome</Source>
+                <Reference>Q8TAF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="91617">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114742</Reference>
+              </ExternalReference>
+              <ExternalReference id="90387">
+                <Source>Genatlas</Source>
+                <Reference>WDR48</Reference>
+              </ExternalReference>
+              <ExternalReference id="90385">
+                <Source>HGNC</Source>
+                <Reference>30914</Reference>
+              </ExternalReference>
+              <ExternalReference id="90386">
+                <Source>OMIM</Source>
+                <Reference>612167</Reference>
+              </ExternalReference>
+              <ExternalReference id="90388">
+                <Source>SwissProt</Source>
+                <Reference>Q8TAF3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26857">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22830">
+      <OrphaCode>401795</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401795</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 59</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22898">
+            <Name lang="en">ubiquitin specific peptidase 8</Name>
+            <Symbol>USP8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HumORF8</Synonym>
+              <Synonym lang="en">KIAA0055</Synonym>
+              <Synonym lang="en">SPG59</Synonym>
+              <Synonym lang="en">UBPY</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138592</Reference>
+              </ExternalReference>
+              <ExternalReference id="90382">
+                <Source>Genatlas</Source>
+                <Reference>USP8</Reference>
+              </ExternalReference>
+              <ExternalReference id="90380">
+                <Source>HGNC</Source>
+                <Reference>12631</Reference>
+              </ExternalReference>
+              <ExternalReference id="90381">
+                <Source>OMIM</Source>
+                <Reference>603158</Reference>
+              </ExternalReference>
+              <ExternalReference id="91615">
+                <Source>Reactome</Source>
+                <Reference>P40818</Reference>
+              </ExternalReference>
+              <ExternalReference id="90383">
+                <Source>SwissProt</Source>
+                <Reference>P40818</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23975">
+                <GeneLocus>15q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22825">
+      <OrphaCode>401768</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401768</ExpertLink>
+      <Name lang="en">Proximal myopathy with extrapyramidal signs</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24336167[PMID]</SourceOfValidation>
+          <Gene id="22894">
+            <Name lang="en">mitochondrial calcium uptake 1</Name>
+            <Symbol>MICU1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CALC</Synonym>
+              <Synonym lang="en">EFHA3</Synonym>
+              <Synonym lang="en">FLJ12684</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143250">
+                <Source>Reactome</Source>
+                <Reference>Q9BPX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="91609">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107745</Reference>
+              </ExternalReference>
+              <ExternalReference id="126205">
+                <Source>Genatlas</Source>
+                <Reference>MICU1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90356">
+                <Source>HGNC</Source>
+                <Reference>1530</Reference>
+              </ExternalReference>
+              <ExternalReference id="90357">
+                <Source>OMIM</Source>
+                <Reference>605084</Reference>
+              </ExternalReference>
+              <ExternalReference id="90359">
+                <Source>SwissProt</Source>
+                <Reference>Q9BPX6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38215">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22824">
+      <OrphaCode>401764</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401764</ExpertLink>
+      <Name lang="en">Pancytopenia-developmental delay syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24507776[PMID]</SourceOfValidation>
+          <Gene id="22893">
+            <Name lang="en">ERCC excision repair 6 like 2</Name>
+            <Symbol>ERCC6L2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ37706</Synonym>
+              <Synonym lang="en">HEBO</Synonym>
+              <Synonym lang="en">RAD26L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182150</Reference>
+              </ExternalReference>
+              <ExternalReference id="90351">
+                <Source>Genatlas</Source>
+                <Reference>ERCC6L2</Reference>
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+              <ExternalReference id="90349">
+                <Source>HGNC</Source>
+                <Reference>26922</Reference>
+              </ExternalReference>
+              <ExternalReference id="90350">
+                <Source>OMIM</Source>
+                <Reference>615667</Reference>
+              </ExternalReference>
+              <ExternalReference id="90352">
+                <Source>SwissProt</Source>
+                <Reference>Q5T890</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>9q22.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="22827">
+      <OrphaCode>401777</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401777</ExpertLink>
+      <Name lang="en">Optic atrophy-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24462372[PMID]</SourceOfValidation>
+          <Gene id="22895">
+            <Name lang="en">nuclear receptor subfamily 2 group F member 1</Name>
+            <Symbol>NR2F1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">COUP-TFI</Synonym>
+              <Synonym lang="en">COUPTF1</Synonym>
+              <Synonym lang="en">EAR-3</Synonym>
+              <Synonym lang="en">SVP44</Synonym>
+              <Synonym lang="en">TCFCOUP1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175745</Reference>
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+              <ExternalReference id="90365">
+                <Source>Genatlas</Source>
+                <Reference>NR2F1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90363">
+                <Source>HGNC</Source>
+                <Reference>7975</Reference>
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+              <ExternalReference id="91612">
+                <Source>IUPHAR</Source>
+                <Reference>617</Reference>
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+              <ExternalReference id="90364">
+                <Source>OMIM</Source>
+                <Reference>132890</Reference>
+              </ExternalReference>
+              <ExternalReference id="91610">
+                <Source>Reactome</Source>
+                <Reference>P10589</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10589</Reference>
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+              <Locus id="25085">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22837">
+      <OrphaCode>401830</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401830</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 69</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">RAB3 GTPase activating non-catalytic protein subunit 2</Name>
+            <Symbol>RAB3GAP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP434D245</Synonym>
+              <Synonym lang="en">KIAA0839</Synonym>
+              <Synonym lang="en">RAB3-GAP150</Synonym>
+              <Synonym lang="en">SPG69</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100289">
+                <Source>Reactome</Source>
+                <Reference>Q9H2M9</Reference>
+              </ExternalReference>
+              <ExternalReference id="58060">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25298">
+                <Source>Genatlas</Source>
+                <Reference>RAB3GAP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17168</Reference>
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+              <ExternalReference id="25295">
+                <Source>OMIM</Source>
+                <Reference>609275</Reference>
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+              <ExternalReference id="33705">
+                <Source>SwissProt</Source>
+                <Reference>Q9H2M9</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+      <OrphaCode>401835</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401835</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 70</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
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+            <Name lang="en">methionyl-tRNA synthetase 1</Name>
+            <Symbol>MARS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2U</Synonym>
+              <Synonym lang="en">MetRS</Synonym>
+              <Synonym lang="en">SPG70</Synonym>
+              <Synonym lang="en">methionine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="84458">
+                <Source>HGNC</Source>
+                <Reference>6898</Reference>
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+              <ExternalReference id="84462">
+                <Source>OMIM</Source>
+                <Reference>156560</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P56192</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P56192</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166986</Reference>
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+                <Reference>MARS</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401840</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 71</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">zinc finger RNA binding protein</Name>
+            <Symbol>ZFR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SPG71</Synonym>
+              <Synonym lang="en">ZFR1</Synonym>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000056097</Reference>
+              </ExternalReference>
+              <ExternalReference id="90416">
+                <Source>Genatlas</Source>
+                <Reference>ZFR</Reference>
+              </ExternalReference>
+              <ExternalReference id="90414">
+                <Source>HGNC</Source>
+                <Reference>17277</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>615635</Reference>
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+              <ExternalReference id="90417">
+                <Source>SwissProt</Source>
+                <Reference>Q96KR1</Reference>
+              </ExternalReference>
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+                <GeneLocus>5p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22832">
+      <OrphaCode>401805</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401805</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 63</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22560">
+            <Name lang="en">adenosine monophosphate deaminase 2</Name>
+            <Symbol>AMPD2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AMPD isoform L</Synonym>
+              <Synonym lang="en">SPG63</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116337</Reference>
+              </ExternalReference>
+              <ExternalReference id="84213">
+                <Source>Genatlas</Source>
+                <Reference>AMPD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="84211">
+                <Source>HGNC</Source>
+                <Reference>469</Reference>
+              </ExternalReference>
+              <ExternalReference id="84212">
+                <Source>OMIM</Source>
+                <Reference>102771</Reference>
+              </ExternalReference>
+              <ExternalReference id="84591">
+                <Source>Reactome</Source>
+                <Reference>Q01433</Reference>
+              </ExternalReference>
+              <ExternalReference id="84214">
+                <Source>SwissProt</Source>
+                <Reference>Q01433</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12945">
+                <GeneLocus>1p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22833">
+      <OrphaCode>401810</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401810</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 64</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22900">
+            <Name lang="en">ectonucleoside triphosphate diphosphohydrolase 1</Name>
+            <Symbol>ENTPD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ATPDase</Synonym>
+              <Synonym lang="en">NTPDase-1</Synonym>
+              <Synonym lang="en">SPG64</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126438">
+                <Source>Reactome</Source>
+                <Reference>P49961</Reference>
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+              <ExternalReference id="91618">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138185</Reference>
+              </ExternalReference>
+              <ExternalReference id="90396">
+                <Source>Genatlas</Source>
+                <Reference>ENTPD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90394">
+                <Source>HGNC</Source>
+                <Reference>3363</Reference>
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+              <ExternalReference id="90395">
+                <Source>OMIM</Source>
+                <Reference>601752</Reference>
+              </ExternalReference>
+              <ExternalReference id="90397">
+                <Source>SwissProt</Source>
+                <Reference>P49961</Reference>
+              </ExternalReference>
+              <ExternalReference id="190592">
+                <Source>IUPHAR</Source>
+                <Reference>2888</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60593">
+                <GeneLocus>10q24.1</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22834">
+      <OrphaCode>401815</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401815</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 66</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22901">
+            <Name lang="en">arylsulfatase family member I</Name>
+            <Symbol>ARSI</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ16069</Synonym>
+              <Synonym lang="en">SPG66</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="90399">
+                <Source>HGNC</Source>
+                <Reference>32521</Reference>
+              </ExternalReference>
+              <ExternalReference id="90400">
+                <Source>OMIM</Source>
+                <Reference>610009</Reference>
+              </ExternalReference>
+              <ExternalReference id="91619">
+                <Source>Reactome</Source>
+                <Reference>Q5FYB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90402">
+                <Source>SwissProt</Source>
+                <Reference>Q5FYB1</Reference>
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+              <ExternalReference id="91620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183876</Reference>
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+              <ExternalReference id="90401">
+                <Source>Genatlas</Source>
+                <Reference>ARSI</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="22835">
+      <OrphaCode>401820</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401820</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 67</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482476[PMID]</SourceOfValidation>
+          <Gene id="22902">
+            <Name lang="en">post-GPI attachment to proteins inositol deacylase 1</Name>
+            <Symbol>PGAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Bst1</Synonym>
+              <Synonym lang="en">FLJ12377</Synonym>
+              <Synonym lang="en">GPI inositol-deacylase</Synonym>
+              <Synonym lang="en">SPG67</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91622">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197121</Reference>
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+              <ExternalReference id="90406">
+                <Source>Genatlas</Source>
+                <Reference>PGAP1</Reference>
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+              <ExternalReference id="90404">
+                <Source>HGNC</Source>
+                <Reference>25712</Reference>
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+              <ExternalReference id="90405">
+                <Source>OMIM</Source>
+                <Reference>611655</Reference>
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+              <ExternalReference id="91621">
+                <Source>Reactome</Source>
+                <Reference>Q75T13</Reference>
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+              <ExternalReference id="90407">
+                <Source>SwissProt</Source>
+                <Reference>Q75T13</Reference>
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+                <GeneLocus>2q33.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Childhood-onset spasticity with hyperglycinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24334290[PMID]_24777537[PMID]</SourceOfValidation>
+          <Gene id="17878">
+            <Name lang="en">glutaredoxin 5</Name>
+            <Symbol>GLRX5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GRX5</Synonym>
+              <Synonym lang="en">PR01238</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143940">
+                <Source>Reactome</Source>
+                <Reference>Q86SX6</Reference>
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+              <ExternalReference id="60492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182512</Reference>
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+              <ExternalReference id="39937">
+                <Source>Genatlas</Source>
+                <Reference>GLRX5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20134</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609588</Reference>
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+              <ExternalReference id="39940">
+                <Source>SwissProt</Source>
+                <Reference>Q86SX6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NFU1 iron-sulfur cluster scaffold</Name>
+            <Symbol>NFU1</Symbol>
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+              <Synonym lang="en">NIFUC</Synonym>
+              <Synonym lang="en">NifU</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000169599</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NFU1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16287</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608100</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UMS0</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 2</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">bolA family member 3</Name>
+            <Symbol>BOLA3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163170</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BOLA3</Reference>
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+                <Reference>24415</Reference>
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+                <Reference>613183</Reference>
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+      <Name lang="en">Autosomal spastic paraplegia type 72</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>REEP2</Symbol>
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+              <Synonym lang="en">Yip2d</Synonym>
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+                <Reference>ENSG00000132563</Reference>
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+                <Reference>17975</Reference>
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+              <Synonym lang="en">LAS</Synonym>
+              <Synonym lang="en">Lipoyl synthase, mitochondrial</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>LIAS</Reference>
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+      <Name lang="en">Lipoyl transferase 1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24777537[PMID]</SourceOfValidation>
+          <Gene id="22657">
+            <Name lang="en">lipoyltransferase 1</Name>
+            <Symbol>LIPT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC12290</Synonym>
+              <Synonym lang="en">MGC13378</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144182</Reference>
+              </ExternalReference>
+              <ExternalReference id="87596">
+                <Source>Genatlas</Source>
+                <Reference>LIPT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="87594">
+                <Source>HGNC</Source>
+                <Reference>29569</Reference>
+              </ExternalReference>
+              <ExternalReference id="87595">
+                <Source>OMIM</Source>
+                <Reference>610284</Reference>
+              </ExternalReference>
+              <ExternalReference id="98107">
+                <Source>Reactome</Source>
+                <Reference>Q9Y234</Reference>
+              </ExternalReference>
+              <ExternalReference id="87597">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y234</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17825">
+                <GeneLocus>2q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22851">
+      <OrphaCode>401920</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401920</ExpertLink>
+      <Name lang="en">Fibrolamellar hepatocellular carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24578576[PMID]</SourceOfValidation>
+          <Gene id="22912">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member B1</Name>
+            <Symbol>DNAJB1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Hsp40</Synonym>
+              <Synonym lang="en">RSPH16B</Synonym>
+              <Synonym lang="en">Sis1</Synonym>
+              <Synonym lang="en">radial spoke 16 homolog B (Chlamydomonas)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="90475">
+                <Source>Genatlas</Source>
+                <Reference>DNAJB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="90473">
+                <Source>HGNC</Source>
+                <Reference>5270</Reference>
+              </ExternalReference>
+              <ExternalReference id="90474">
+                <Source>OMIM</Source>
+                <Reference>604572</Reference>
+              </ExternalReference>
+              <ExternalReference id="91636">
+                <Source>Reactome</Source>
+                <Reference>P25685</Reference>
+              </ExternalReference>
+              <ExternalReference id="90476">
+                <Source>SwissProt</Source>
+                <Reference>P25685</Reference>
+              </ExternalReference>
+              <ExternalReference id="91637">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132002</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>19p13.12</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24578576[PMID]</SourceOfValidation>
+          <Gene id="22913">
+            <Name lang="en">protein kinase cAMP-activated catalytic subunit alpha</Name>
+            <Symbol>PRKACA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKACa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="91639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072062</Reference>
+              </ExternalReference>
+              <ExternalReference id="90480">
+                <Source>Genatlas</Source>
+                <Reference>PRKACA</Reference>
+              </ExternalReference>
+              <ExternalReference id="90478">
+                <Source>HGNC</Source>
+                <Reference>9380</Reference>
+              </ExternalReference>
+              <ExternalReference id="91640">
+                <Source>IUPHAR</Source>
+                <Reference>1476</Reference>
+              </ExternalReference>
+              <ExternalReference id="90479">
+                <Source>OMIM</Source>
+                <Reference>601639</Reference>
+              </ExternalReference>
+              <ExternalReference id="91638">
+                <Source>Reactome</Source>
+                <Reference>P17612</Reference>
+              </ExternalReference>
+              <ExternalReference id="90481">
+                <Source>SwissProt</Source>
+                <Reference>P17612</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66811">
+                <GeneLocus>19p13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22850">
+      <OrphaCode>401911</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401911</ExpertLink>
+      <Name lang="en">AXIN2-related attenuated familial adenomatous polyposis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23838596[PMID]</SourceOfValidation>
+          <Gene id="15346">
+            <Name lang="en">axin 2</Name>
+            <Symbol>AXIN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp781B0869</Synonym>
+              <Synonym lang="en">MGC126582</Synonym>
+              <Synonym lang="en">axil</Synonym>
+              <Synonym lang="en">conductin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168646</Reference>
+              </ExternalReference>
+              <ExternalReference id="26080">
+                <Source>Genatlas</Source>
+                <Reference>AXIN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26078">
+                <Source>HGNC</Source>
+                <Reference>904</Reference>
+              </ExternalReference>
+              <ExternalReference id="26077">
+                <Source>OMIM</Source>
+                <Reference>604025</Reference>
+              </ExternalReference>
+              <ExternalReference id="87964">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2T1</Reference>
+              </ExternalReference>
+              <ExternalReference id="33903">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2T1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22848">
+      <OrphaCode>401901</OrphaCode>
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+      <Name lang="en">Huntington disease-like syndrome due to C9ORF72 expansions</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24363131[PMID]</SourceOfValidation>
+          <Gene id="20676">
+            <Name lang="en">C9orf72-SMCR8 complex subunit</Name>
+            <Symbol>C9ORF72</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DENND9</Synonym>
+              <Synonym lang="en">DENNL72</Synonym>
+              <Synonym lang="en">MGC23980</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147894</Reference>
+              </ExternalReference>
+              <ExternalReference id="54956">
+                <Source>Genatlas</Source>
+                <Reference>C9orf72</Reference>
+              </ExternalReference>
+              <ExternalReference id="54954">
+                <Source>HGNC</Source>
+                <Reference>28337</Reference>
+              </ExternalReference>
+              <ExternalReference id="54955">
+                <Source>OMIM</Source>
+                <Reference>614260</Reference>
+              </ExternalReference>
+              <ExternalReference id="54957">
+                <Source>SwissProt</Source>
+                <Reference>Q96LT7</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>9p21.2</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22859">
+      <OrphaCode>401959</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401959</ExpertLink>
+      <Name lang="en">Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24045845[PMID]</SourceOfValidation>
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+            <Name lang="en">karyopherin subunit alpha 7</Name>
+            <Symbol>KPNA7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">IPOA8</Synonym>
+              <Synonym lang="en">importin alpha 8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="91646">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185467</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21839</Reference>
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+              <ExternalReference id="90498">
+                <Source>OMIM</Source>
+                <Reference>614107</Reference>
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+              <ExternalReference id="91645">
+                <Source>Reactome</Source>
+                <Reference>A9QM74</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>A9QM74</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22857">
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+      <Name lang="en">Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>24530203[PMID]</SourceOfValidation>
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+            <Name lang="en">carbonic anhydrase 5A</Name>
+            <Symbol>CA5A</Symbol>
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+              <Synonym lang="en">CAV</Synonym>
+              <Synonym lang="en">CAVA</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P35218</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35218</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174990</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CA5A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1377</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Moyamoya disease with early-onset achalasia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">guanylate cyclase 1 soluble subunit alpha 1</Name>
+            <Symbol>GUCY1A1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164116</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GUCY1A3</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q02108</Reference>
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+      <Name lang="en">1p31p32 microdeletion syndrome</Name>
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+            <Name lang="en">nuclear factor I A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162599</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NFIA</Reference>
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+                <Reference>7784</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q12857</Reference>
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+                <Reference>Q12857</Reference>
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+      <Name lang="en">Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+          <Gene id="22949">
+            <Name lang="en">presequence translocase associated motor 16</Name>
+            <Symbol>PAM16</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">TIMM16</Synonym>
+              <Synonym lang="en">Tim16</Synonym>
+              <Synonym lang="en">mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000217930</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MAGMAS</Reference>
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+                <Reference>29679</Reference>
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+              <ExternalReference id="90643">
+                <Source>OMIM</Source>
+                <Reference>614336</Reference>
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+              <ExternalReference id="91653">
+                <Source>Reactome</Source>
+                <Reference>Q9Y3D7</Reference>
+              </ExternalReference>
+              <ExternalReference id="90645">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3D7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13251">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22861">
+      <OrphaCode>401973</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401973</ExpertLink>
+      <Name lang="en">MEND syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24459067[PMID]</SourceOfValidation>
+          <Gene id="15904">
+            <Name lang="en">EBP cholestenol delta-isomerase</Name>
+            <Symbol>EBP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">3-beta-hydroxysteroid-delta-8,delta-7-isomerase</Synonym>
+              <Synonym lang="en">CHO2</Synonym>
+              <Synonym lang="en">CPX</Synonym>
+              <Synonym lang="en">CPXD</Synonym>
+              <Synonym lang="en">Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)</Synonym>
+              <Synonym lang="en">sterol 8-isomerase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32917">
+                <Source>SwissProt</Source>
+                <Reference>Q15125</Reference>
+              </ExternalReference>
+              <ExternalReference id="59014">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147155</Reference>
+              </ExternalReference>
+              <ExternalReference id="28739">
+                <Source>Genatlas</Source>
+                <Reference>EBP</Reference>
+              </ExternalReference>
+              <ExternalReference id="28737">
+                <Source>HGNC</Source>
+                <Reference>3133</Reference>
+              </ExternalReference>
+              <ExternalReference id="28736">
+                <Source>OMIM</Source>
+                <Reference>300205</Reference>
+              </ExternalReference>
+              <ExternalReference id="59015">
+                <Source>Reactome</Source>
+                <Reference>Q15125</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22860">
+      <OrphaCode>401964</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401964</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24500646[PMID]</SourceOfValidation>
+          <Gene id="22917">
+            <Name lang="en">DDB1 and CUL4 associated factor 8</Name>
+            <Symbol>DCAF8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ35857</Synonym>
+              <Synonym lang="en">H326</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91647">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132716</Reference>
+              </ExternalReference>
+              <ExternalReference id="90503">
+                <Source>HGNC</Source>
+                <Reference>24891</Reference>
+              </ExternalReference>
+              <ExternalReference id="90504">
+                <Source>OMIM</Source>
+                <Reference>615820</Reference>
+              </ExternalReference>
+              <ExternalReference id="90505">
+                <Source>SwissProt</Source>
+                <Reference>Q5TAQ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143174">
+                <Source>Reactome</Source>
+                <Reference>Q5TAQ9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38063">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22866">
+      <OrphaCode>402003</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402003</ExpertLink>
+      <Name lang="en">Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21801157[PMID]_19609311[PMID]</SourceOfValidation>
+          <Gene id="18994">
+            <Name lang="en">keratin 6C</Name>
+            <Symbol>KRT6C</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126391">
+                <Source>Reactome</Source>
+                <Reference>P48668</Reference>
+              </ExternalReference>
+              <ExternalReference id="58849">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170465</Reference>
+              </ExternalReference>
+              <ExternalReference id="44568">
+                <Source>Genatlas</Source>
+                <Reference>KRT6C</Reference>
+              </ExternalReference>
+              <ExternalReference id="44569">
+                <Source>HGNC</Source>
+                <Reference>20406</Reference>
+              </ExternalReference>
+              <ExternalReference id="46805">
+                <Source>OMIM</Source>
+                <Reference>612315</Reference>
+              </ExternalReference>
+              <ExternalReference id="44571">
+                <Source>SwissProt</Source>
+                <Reference>P48668</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26767">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22865">
+      <OrphaCode>401996</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=401996</ExpertLink>
+      <Name lang="en">Karyomegalic interstitial nephritis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22772369[PMID]</SourceOfValidation>
+          <Gene id="21300">
+            <Name lang="en">FANCD2 and FANCI associated nuclease 1</Name>
+            <Symbol>FAN1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83461">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198690</Reference>
+              </ExternalReference>
+              <ExternalReference id="70645">
+                <Source>Genatlas</Source>
+                <Reference>FAN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="70643">
+                <Source>HGNC</Source>
+                <Reference>29170</Reference>
+              </ExternalReference>
+              <ExternalReference id="70644">
+                <Source>OMIM</Source>
+                <Reference>613534</Reference>
+              </ExternalReference>
+              <ExternalReference id="97330">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2M0</Reference>
+              </ExternalReference>
+              <ExternalReference id="70646">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2M0</Reference>
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+            <LocusList count="1">
+              <Locus id="18669">
+                <GeneLocus>15q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22870">
+      <OrphaCode>402017</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402017</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with t(9;11)(p22;q23)</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="16409">
+            <Name lang="en">lysine methyltransferase 2A</Name>
+            <Symbol>KMT2A</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">CXXC7</Synonym>
+              <Synonym lang="en">HRX</Synonym>
+              <Synonym lang="en">HTRX1</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
+              <Synonym lang="en">MLL1A</Synonym>
+              <Synonym lang="en">TRX1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190397">
+                <Source>IUPHAR</Source>
+                <Reference>2688</Reference>
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+              <ExternalReference id="59489">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118058</Reference>
+              </ExternalReference>
+              <ExternalReference id="95302">
+                <Source>Genatlas</Source>
+                <Reference>KMT2A</Reference>
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+              <ExternalReference id="31174">
+                <Source>HGNC</Source>
+                <Reference>7132</Reference>
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+              <ExternalReference id="31173">
+                <Source>OMIM</Source>
+                <Reference>159555</Reference>
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+              <ExternalReference id="97235">
+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
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+              <ExternalReference id="33473">
+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="22986">
+            <Name lang="en">MLLT3 super elongation complex subunit</Name>
+            <Symbol>MLLT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AF-9</Synonym>
+              <Synonym lang="en">AF9</Synonym>
+              <Synonym lang="en">YEATS3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>MLLT3</Reference>
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+              <ExternalReference id="91926">
+                <Source>HGNC</Source>
+                <Reference>7136</Reference>
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+              <ExternalReference id="91927">
+                <Source>OMIM</Source>
+                <Reference>159558</Reference>
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+              <ExternalReference id="91929">
+                <Source>SwissProt</Source>
+                <Reference>P42568</Reference>
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+              <ExternalReference id="91974">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171843</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P42568</Reference>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="22871">
+      <OrphaCode>402020</OrphaCode>
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+      <Name lang="en">Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19357394[PMID]_20556821[PMID]</SourceOfValidation>
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+            <Name lang="en">MDS1 and EVI1 complex locus</Name>
+            <Symbol>MECOM</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">MDS1-EVI1</Synonym>
+              <Synonym lang="en">PR domain 3</Synonym>
+              <Synonym lang="en">PRDM3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="38200">
+                <Source>SwissProt</Source>
+                <Reference>Q03112</Reference>
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+              <ExternalReference id="59124">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085276</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>MECOM</Reference>
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+              <ExternalReference id="38199">
+                <Source>HGNC</Source>
+                <Reference>3498</Reference>
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+              <ExternalReference id="38198">
+                <Source>OMIM</Source>
+                <Reference>165215</Reference>
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+              <ExternalReference id="97262">
+                <Source>Reactome</Source>
+                <Reference>Q03112</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]_20556821[PMID]</SourceOfValidation>
+          <Gene id="22987">
+            <Name lang="en">ribophorin I</Name>
+            <Symbol>RPN1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">oligosaccharyltransferase 1 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">oligosaccharyltransferase complex subunit (non-catalytic)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91976">
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+                <Reference>ENSG00000163902</Reference>
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+                <Reference>RPN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10381</Reference>
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+                <Source>OMIM</Source>
+                <Reference>180470</Reference>
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+              <ExternalReference id="91975">
+                <Source>Reactome</Source>
+                <Reference>P04843</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04843</Reference>
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+                <GeneLocus>3q21.3</GeneLocus>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22869">
+      <OrphaCode>402014</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402014</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with t(6;9)(p23;q34)</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
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+            <Name lang="en">nucleoporin 214</Name>
+            <Symbol>NUP214</Symbol>
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+              <Synonym lang="en">CAIN</Synonym>
+              <Synonym lang="en">CAN</Synonym>
+              <Synonym lang="en">CAN protein, putative oncogene</Synonym>
+              <Synonym lang="en">D9S46E</Synonym>
+              <Synonym lang="en">N214</Synonym>
+              <Synonym lang="en">nuclear pore complex protein Nup214</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59799">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126883</Reference>
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+              <ExternalReference id="39594">
+                <Source>Genatlas</Source>
+                <Reference>NUP214</Reference>
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+              <ExternalReference id="39595">
+                <Source>HGNC</Source>
+                <Reference>8064</Reference>
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+              <ExternalReference id="39596">
+                <Source>OMIM</Source>
+                <Reference>114350</Reference>
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+              <ExternalReference id="59800">
+                <Source>Reactome</Source>
+                <Reference>P35658</Reference>
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+              <ExternalReference id="39597">
+                <Source>SwissProt</Source>
+                <Reference>P35658</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="17760">
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+            <Symbol>DEK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">D6S231E</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59798">
+                <Source>Ensembl</Source>
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+              </ExternalReference>
+              <ExternalReference id="39607">
+                <Source>Genatlas</Source>
+                <Reference>DEK</Reference>
+              </ExternalReference>
+              <ExternalReference id="39608">
+                <Source>HGNC</Source>
+                <Reference>2768</Reference>
+              </ExternalReference>
+              <ExternalReference id="39609">
+                <Source>OMIM</Source>
+                <Reference>125264</Reference>
+              </ExternalReference>
+              <ExternalReference id="98079">
+                <Source>Reactome</Source>
+                <Reference>P35659</Reference>
+              </ExternalReference>
+              <ExternalReference id="39610">
+                <Source>SwissProt</Source>
+                <Reference>P35659</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21201">
+                <GeneLocus>6p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22872">
+      <OrphaCode>402023</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402023</ExpertLink>
+      <Name lang="en">Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="22988">
+            <Name lang="en">RNA binding motif protein 15</Name>
+            <Symbol>RBM15</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">OTT</Synonym>
+              <Synonym lang="en">OTT1</Synonym>
+              <Synonym lang="en">one twenty-two</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162775</Reference>
+              </ExternalReference>
+              <ExternalReference id="91938">
+                <Source>Genatlas</Source>
+                <Reference>RBM15</Reference>
+              </ExternalReference>
+              <ExternalReference id="91936">
+                <Source>HGNC</Source>
+                <Reference>14959</Reference>
+              </ExternalReference>
+              <ExternalReference id="91937">
+                <Source>OMIM</Source>
+                <Reference>606077</Reference>
+              </ExternalReference>
+              <ExternalReference id="91939">
+                <Source>SwissProt</Source>
+                <Reference>Q96T37</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22433">
+                <GeneLocus>1p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="22989">
+            <Name lang="en">myocardin related transcription factor A</Name>
+            <Symbol>MRTFA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">BSAC</Synonym>
+              <Synonym lang="en">KIAA1438</Synonym>
+              <Synonym lang="en">MAL</Synonym>
+              <Synonym lang="en">MKL</Synonym>
+              <Synonym lang="en">MRTF-A</Synonym>
+              <Synonym lang="en">basic, SAP and coiled-coil domain</Synonym>
+              <Synonym lang="en">megakaryocytic acute leukemia</Synonym>
+              <Synonym lang="en">myocardin-related transcription factor A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="94619">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196588</Reference>
+              </ExternalReference>
+              <ExternalReference id="91943">
+                <Source>Genatlas</Source>
+                <Reference>MKL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="91941">
+                <Source>HGNC</Source>
+                <Reference>14334</Reference>
+              </ExternalReference>
+              <ExternalReference id="91942">
+                <Source>OMIM</Source>
+                <Reference>606078</Reference>
+              </ExternalReference>
+              <ExternalReference id="97023">
+                <Source>Reactome</Source>
+                <Reference>Q969V6</Reference>
+              </ExternalReference>
+              <ExternalReference id="91944">
+                <Source>SwissProt</Source>
+                <Reference>Q969V6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21099">
+                <GeneLocus>22q13.1-q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22873">
+      <OrphaCode>402026</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402026</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with NPM1 somatic mutations</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]_23301224[PMID]</SourceOfValidation>
+          <Gene id="17401">
+            <Name lang="en">nucleophosmin 1</Name>
+            <Symbol>NPM1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">'nucleophosmin/nucleoplasmin family, member 1'</Synonym>
+              <Synonym lang="en">B23</Synonym>
+              <Synonym lang="en">NPM</Synonym>
+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
+              <Synonym lang="en">Numatrin</Synonym>
+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58811">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181163</Reference>
+              </ExternalReference>
+              <ExternalReference id="37278">
+                <Source>Genatlas</Source>
+                <Reference>NPM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37279">
+                <Source>HGNC</Source>
+                <Reference>7910</Reference>
+              </ExternalReference>
+              <ExternalReference id="37280">
+                <Source>OMIM</Source>
+                <Reference>164040</Reference>
+              </ExternalReference>
+              <ExternalReference id="58812">
+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+              <ExternalReference id="37281">
+                <Source>SwissProt</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10153">
+                <GeneLocus>5q35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22878">
+      <OrphaCode>402082</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402082</ExpertLink>
+      <Name lang="en">Progressive myoclonic epilepsy type 5</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21276947[PMID]_26942291[PMID]</SourceOfValidation>
+          <Gene id="22910">
+            <Name lang="en">prickle planar cell polarity protein 2</Name>
+            <Symbol>PRICKLE2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp686D143</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91634">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163637</Reference>
+              </ExternalReference>
+              <ExternalReference id="90455">
+                <Source>Genatlas</Source>
+                <Reference>PRICKLE2</Reference>
+              </ExternalReference>
+              <ExternalReference id="90453">
+                <Source>HGNC</Source>
+                <Reference>20340</Reference>
+              </ExternalReference>
+              <ExternalReference id="90454">
+                <Source>OMIM</Source>
+                <Reference>608501</Reference>
+              </ExternalReference>
+              <ExternalReference id="90456">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z3G6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25949">
+                <GeneLocus>3p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26942291[PMID]</SourceOfValidation>
+          <Gene id="15118">
+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
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+              <ExternalReference id="24994">
+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+              <ExternalReference id="24995">
+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
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+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+              <ExternalReference id="143949">
+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
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+              <Locus id="39367">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22879">
+      <OrphaCode>402364</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402364</ExpertLink>
+      <Name lang="en">Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20950787[PMID]</SourceOfValidation>
+          <Gene id="22977">
+            <Name lang="en">mediator complex subunit 17</Name>
+            <Symbol>MED17</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CRSP77</Synonym>
+              <Synonym lang="en">DRIP80</Synonym>
+              <Synonym lang="en">SRB4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91964">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000042429</Reference>
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+              <ExternalReference id="91794">
+                <Source>Genatlas</Source>
+                <Reference>MED17</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2375</Reference>
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+              <ExternalReference id="91793">
+                <Source>OMIM</Source>
+                <Reference>603810</Reference>
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+              <ExternalReference id="91963">
+                <Source>Reactome</Source>
+                <Reference>Q9NVC6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NVC6</Reference>
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+            <LocusList count="1">
+              <Locus id="13307">
+                <GeneLocus>11q21</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="22876">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402041</ExpertLink>
+      <Name lang="en">Autosomal recessive distal renal tubular acidosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>29242249[PMID]</SourceOfValidation>
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+            <Name lang="en">forkhead box I1</Name>
+            <Symbol>FOXI1</Symbol>
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+              <Synonym lang="en">FREAC6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168269</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FOXI1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3815</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601093</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12951</Reference>
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+                <GeneLocus>5q35.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23729491[PMID]</SourceOfValidation>
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+            <Name lang="en">ATPase H+ transporting V0 subunit a4</Name>
+            <Symbol>ATP6V0A4</Symbol>
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+              <Synonym lang="en">RTADR</Synonym>
+              <Synonym lang="en">Stv1</Synonym>
+              <Synonym lang="en">V-ATPase subunit a4</Synonym>
+              <Synonym lang="en">VPP2</Synonym>
+              <Synonym lang="en">Vph1</Synonym>
+              <Synonym lang="en">a4</Synonym>
+              <Synonym lang="en">vacuolar proton pump subunit 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105929</Reference>
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+              <ExternalReference id="25986">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V0A4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>866</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605239</Reference>
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+              <ExternalReference id="58677">
+                <Source>Reactome</Source>
+                <Reference>Q9HBG4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HBG4</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>826</Reference>
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+                <GeneLocus>7q34</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23729491[PMID]</SourceOfValidation>
+          <Gene id="15328">
+            <Name lang="en">ATPase H+ transporting V1 subunit B1</Name>
+            <Symbol>ATP6V1B1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">RTA1B</Synonym>
+              <Synonym lang="en">Renal tubular acidosis with deafness</Synonym>
+              <Synonym lang="en">V-ATPase subunit B1</Synonym>
+              <Synonym lang="en">VATB</Synonym>
+              <Synonym lang="en">Vma2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58674">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116039</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>811</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATP6V1B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>853</Reference>
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+                <Source>OMIM</Source>
+                <Reference>192132</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P15313</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P15313</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30028003[PMID]</SourceOfValidation>
+          <Gene id="18984">
+            <Name lang="en">WD repeat domain 72</Name>
+            <Symbol>WDR72</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ38736</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>26790</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613214</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q3MJ13</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166415</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>WDR72</Reference>
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+              <Locus id="10969">
+                <GeneLocus>15q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22877">
+      <OrphaCode>402075</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=402075</ExpertLink>
+      <Name lang="en">Familial bicuspid aortic valve</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25438918[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+              <ExternalReference id="31819">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
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+              <ExternalReference id="31821">
+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
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+              <ExternalReference id="31820">
+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24638895[PMID]</SourceOfValidation>
+          <Gene id="21188">
+            <Name lang="en">GATA binding protein 5</Name>
+            <Symbol>GATA5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GATAS</Synonym>
+              <Synonym lang="en">bB379O24.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="69832">
+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>611496</Reference>
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+              <ExternalReference id="83425">
+                <Source>Reactome</Source>
+                <Reference>Q9BWX5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BWX5</Reference>
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+              <ExternalReference id="83426">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130700</Reference>
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+              <ExternalReference id="69834">
+                <Source>Genatlas</Source>
+                <Reference>GATA5</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16025100[PMID]</SourceOfValidation>
+          <Gene id="16434">
+            <Name lang="en">notch receptor 1</Name>
+            <Symbol>NOTCH1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148400</Reference>
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+              <ExternalReference id="37276">
+                <Source>Genatlas</Source>
+                <Reference>NOTCH1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7881</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190198</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P46531</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P46531</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2861</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22275001[PMID]</SourceOfValidation>
+          <Gene id="21410">
+            <Name lang="en">SMAD family member 6</Name>
+            <Symbol>SMAD6</Symbol>
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+              <Synonym lang="en">HsT17432</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000137834</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O43541</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43541</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Scott syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">anoctamin 6</Name>
+            <Symbol>ANO6</Symbol>
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+              <Synonym lang="en">DKFZp313M0720</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58767">
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+                <Reference>ENSG00000177119</Reference>
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+                <Reference>ANO6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25240</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83194">
+                <Source>Reactome</Source>
+                <Reference>Q4KMQ2</Reference>
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+                <Reference>Q4KMQ2</Reference>
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+      <Name lang="en">Severe intellectual disability-progressive spastic diplegia syndrome</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Female infertility due to zona pellucida defect</Name>
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+            <Name lang="en">zona pellucida glycoprotein 2</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Reference>3600</Reference>
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+              <ExternalReference id="35640">
+                <Source>OMIM</Source>
+                <Reference>135820</Reference>
+              </ExternalReference>
+              <ExternalReference id="83058">
+                <Source>Reactome</Source>
+                <Reference>P23142</Reference>
+              </ExternalReference>
+              <ExternalReference id="37030">
+                <Source>SwissProt</Source>
+                <Reference>P23142</Reference>
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+              <ExternalReference id="59691">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077942</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9847">
+                <GeneLocus>22q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22923">
+      <OrphaCode>404454</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=404454</ExpertLink>
+      <Name lang="en">Alacrimia-choreoathetosis-liver dysfunction syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24651605[PMID]</SourceOfValidation>
+          <Gene id="22971">
+            <Name lang="en">N-glycanase 1</Name>
+            <Symbol>NGLY1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ11005</Synonym>
+              <Synonym lang="en">PNG-1</Synonym>
+              <Synonym lang="en">PNG1</Synonym>
+              <Synonym lang="en">peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase</Synonym>
+              <Synonym lang="en">peptide:N-glycanase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126441">
+                <Source>Reactome</Source>
+                <Reference>Q96IV0</Reference>
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+              <ExternalReference id="91956">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151092</Reference>
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+              <ExternalReference id="91737">
+                <Source>Genatlas</Source>
+                <Reference>NGLY1</Reference>
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+              <ExternalReference id="91735">
+                <Source>HGNC</Source>
+                <Reference>17646</Reference>
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+              <ExternalReference id="91736">
+                <Source>OMIM</Source>
+                <Reference>610661</Reference>
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+              <ExternalReference id="91738">
+                <Source>SwissProt</Source>
+                <Reference>Q96IV0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22920">
+      <OrphaCode>404443</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=404443</ExpertLink>
+      <Name lang="en">Tatton-Brown-Rahman syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>24614070[PMID]_27701732[PMID]</SourceOfValidation>
+          <Gene id="22958">
+            <Name lang="en">DNA methyltransferase 3 alpha</Name>
+            <Symbol>DNMT3A</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="91666">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119772</Reference>
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+              <ExternalReference id="90864">
+                <Source>Genatlas</Source>
+                <Reference>DNMT3A</Reference>
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+              <ExternalReference id="90862">
+                <Source>HGNC</Source>
+                <Reference>2978</Reference>
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+              <ExternalReference id="91667">
+                <Source>IUPHAR</Source>
+                <Reference>2750</Reference>
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+              <ExternalReference id="90863">
+                <Source>OMIM</Source>
+                <Reference>602769</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6K1</Reference>
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+              <ExternalReference id="90865">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6K1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>404448</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=404448</ExpertLink>
+      <Name lang="en">ADNP syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24531329[PMID]</SourceOfValidation>
+          <Gene id="22957">
+            <Name lang="en">activity dependent neuroprotector homeobox</Name>
+            <Symbol>ADNP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ADNP homeobox 1</Synonym>
+              <Synonym lang="en">ADNP1</Synonym>
+              <Synonym lang="en">KIAA0784</Synonym>
+              <Synonym lang="en">activity-dependent neuroprotective protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143973">
+                <Source>Reactome</Source>
+                <Reference>Q9H2P0</Reference>
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+              <ExternalReference id="91664">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101126</Reference>
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+              <ExternalReference id="90853">
+                <Source>Genatlas</Source>
+                <Reference>ADNP</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15766</Reference>
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+              <ExternalReference id="90852">
+                <Source>OMIM</Source>
+                <Reference>611386</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H2P0</Reference>
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+                <GeneLocus>20q13.13</GeneLocus>
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+      <Name lang="en">Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome</Name>
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+          <SourceOfValidation>24656866[PMID]</SourceOfValidation>
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+              <Synonym lang="en">glutamine tRNA ligase</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172053</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9751</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <Name lang="en">Familial atypical multiple mole melanoma syndrome</Name>
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+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Vasculitis due to ADA2 deficiency</Name>
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+            <Name lang="en">adenosine deaminase 2</Name>
+            <Symbol>ADA2</Symbol>
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+                <Source>Ensembl</Source>
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+                <Reference>CECR1</Reference>
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+                <Reference>1839</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZK5</Reference>
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+              <Synonym lang="en">MGC29840</Synonym>
+              <Synonym lang="en">family of interleukin 1-delta</Synonym>
+              <Synonym lang="en">interleukin-1 HY1</Synonym>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinal muscular atrophy with respiratory distress type 2</Name>
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+            <Name lang="en">LAS1 like ribosome biogenesis factor</Name>
+            <Symbol>LAS1L</Symbol>
+            <SynonymList count="2">
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91961">
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+                <Reference>ENSG00000001497</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LAS1L</Reference>
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+                <Reference>25726</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y4W2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y4W2</Reference>
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+      <Name lang="en">Clear cell papillary renal cell carcinoma</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">HNF1 homeobox A</Name>
+            <Symbol>HNF1A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HNF1</Synonym>
+              <Synonym lang="en">HNF1a</Synonym>
+              <Synonym lang="en">LFB1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>22012259[PMID]</SourceOfValidation>
+          <Gene id="16402">
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+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
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+                <Reference>ENSG00000187098</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000163939</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01111</Reference>
+              </ExternalReference>
+              <ExternalReference id="56971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213281</Reference>
+              </ExternalReference>
+              <ExternalReference id="44184">
+                <Source>Genatlas</Source>
+                <Reference>NRAS</Reference>
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+              <ExternalReference id="190466">
+                <Source>IUPHAR</Source>
+                <Reference>2823</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60341">
+                <GeneLocus>1p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23018">
+      <OrphaCode>411536</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411536</ExpertLink>
+      <Name lang="en">Mild phosphoribosylpyrophosphate synthetase superactivity</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301734PMID]</SourceOfValidation>
+          <Gene id="15153">
+            <Name lang="en">phosphoribosyl pyrophosphate synthetase 1</Name>
+            <Symbol>PRPS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMTX5</Synonym>
+              <Synonym lang="en">DFNX1</Synonym>
+              <Synonym lang="en">PRS I</Synonym>
+              <Synonym lang="en">ribose-phosphate diphosphokinase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147224</Reference>
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+              <ExternalReference id="25164">
+                <Source>Genatlas</Source>
+                <Reference>PRPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25162">
+                <Source>HGNC</Source>
+                <Reference>9462</Reference>
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+              <ExternalReference id="25161">
+                <Source>OMIM</Source>
+                <Reference>311850</Reference>
+              </ExternalReference>
+              <ExternalReference id="58036">
+                <Source>Reactome</Source>
+                <Reference>P60891</Reference>
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+              <ExternalReference id="33264">
+                <Source>SwissProt</Source>
+                <Reference>P60891</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23019">
+      <OrphaCode>411543</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411543</ExpertLink>
+      <Name lang="en">Severe phosphoribosylpyrophosphate synthetase superactivity</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301734[PMID]</SourceOfValidation>
+          <Gene id="15153">
+            <Name lang="en">phosphoribosyl pyrophosphate synthetase 1</Name>
+            <Symbol>PRPS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMTX5</Synonym>
+              <Synonym lang="en">DFNX1</Synonym>
+              <Synonym lang="en">PRS I</Synonym>
+              <Synonym lang="en">ribose-phosphate diphosphokinase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147224</Reference>
+              </ExternalReference>
+              <ExternalReference id="25164">
+                <Source>Genatlas</Source>
+                <Reference>PRPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25162">
+                <Source>HGNC</Source>
+                <Reference>9462</Reference>
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+              <ExternalReference id="25161">
+                <Source>OMIM</Source>
+                <Reference>311850</Reference>
+              </ExternalReference>
+              <ExternalReference id="58036">
+                <Source>Reactome</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
+              <ExternalReference id="33264">
+                <Source>SwissProt</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23020">
+      <OrphaCode>411590</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411590</ExpertLink>
+      <Name lang="en">Wolfram-like syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20069065[PMID]_20301750[PMID]</SourceOfValidation>
+          <Gene id="15721">
+            <Name lang="en">wolframin ER transmembrane glycoprotein</Name>
+            <Symbol>WFS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DIDMOAD</Synonym>
+              <Synonym lang="en">WFS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57698">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109501</Reference>
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+              <ExternalReference id="27876">
+                <Source>Genatlas</Source>
+                <Reference>WFS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27878">
+                <Source>HGNC</Source>
+                <Reference>12762</Reference>
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+              <ExternalReference id="27877">
+                <Source>OMIM</Source>
+                <Reference>606201</Reference>
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+              <ExternalReference id="57699">
+                <Source>Reactome</Source>
+                <Reference>O76024</Reference>
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+              <ExternalReference id="32693">
+                <Source>SwissProt</Source>
+                <Reference>O76024</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23022">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411602</ExpertLink>
+      <Name lang="en">Hereditary late-onset Parkinson disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15532">
+            <Name lang="en">synuclein alpha</Name>
+            <Symbol>SNCA</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">&amp;#945;-synuclein</Synonym>
+              <Synonym lang="en">NACP</Synonym>
+              <Synonym lang="en">PD1</Synonym>
+              <Synonym lang="en">a-synuclein</Synonym>
+              <Synonym lang="en">alpha-synuclein</Synonym>
+              <Synonym lang="en">non A4 component of amyloid precursor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145335</Reference>
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+              <ExternalReference id="26980">
+                <Source>Genatlas</Source>
+                <Reference>SNCA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11138</Reference>
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+              <ExternalReference id="26981">
+                <Source>OMIM</Source>
+                <Reference>163890</Reference>
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+              <ExternalReference id="57855">
+                <Source>Reactome</Source>
+                <Reference>P37840</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P37840</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="16106">
+            <Name lang="en">glucosylceramidase beta 1</Name>
+            <Symbol>GBA1</Symbol>
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+              <Synonym lang="en">GBA1</Synonym>
+              <Synonym lang="en">glucocerebrosidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
+                <Reference>P04062</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04062</Reference>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">DKFZp434H2111</Synonym>
+              <Synonym lang="en">FLJ45829</Synonym>
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+              <Synonym lang="en">ROCO2</Synonym>
+              <Synonym lang="en">dardarin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100308">
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+                <Source>Ensembl</Source>
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+                <Reference>LRRK2</Reference>
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+            <Name lang="en">eukaryotic translation initiation factor 4 gamma 1</Name>
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+                <Reference>EIF4G1</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C13</Name>
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+            <Name lang="en">Candidate gene tested in</Name>
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+      <OrphaCode>411629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411629</ExpertLink>
+      <Name lang="en">Infantile nephropathic cystinosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301574[PMID]</SourceOfValidation>
+          <Gene id="15820">
+            <Name lang="en">cystinosin, lysosomal cystine transporter</Name>
+            <Symbol>CTNS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CTNS-LSB</Synonym>
+              <Synonym lang="en">PQLC4</Synonym>
+              <Synonym lang="en">SLC66A4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193631">
+                <Source>IUPHAR</Source>
+                <Reference>3163</Reference>
+              </ExternalReference>
+              <ExternalReference id="56695">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000040531</Reference>
+              </ExternalReference>
+              <ExternalReference id="28346">
+                <Source>Genatlas</Source>
+                <Reference>CTNS</Reference>
+              </ExternalReference>
+              <ExternalReference id="28344">
+                <Source>HGNC</Source>
+                <Reference>2518</Reference>
+              </ExternalReference>
+              <ExternalReference id="28343">
+                <Source>OMIM</Source>
+                <Reference>606272</Reference>
+              </ExternalReference>
+              <ExternalReference id="97200">
+                <Source>Reactome</Source>
+                <Reference>O60931</Reference>
+              </ExternalReference>
+              <ExternalReference id="32831">
+                <Source>SwissProt</Source>
+                <Reference>O60931</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66671">
+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23012">
+      <OrphaCode>411493</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411493</ExpertLink>
+      <Name lang="en">Pontocerebellar hypoplasia type 10</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24766809[PMID]_24766810[PMID]</SourceOfValidation>
+          <Gene id="23145">
+            <Name lang="en">cleavage factor polyribonucleotide kinase subunit 1</Name>
+            <Symbol>CLP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP/GTPbinding protein</Synonym>
+              <Synonym lang="en">HEAB</Synonym>
+              <Synonym lang="en">hClp1</Synonym>
+              <Synonym lang="en">polyribonucleotide 5'-hydroxyl-kinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95332">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172409</Reference>
+              </ExternalReference>
+              <ExternalReference id="95330">
+                <Source>Genatlas</Source>
+                <Reference>CLP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95328">
+                <Source>HGNC</Source>
+                <Reference>16999</Reference>
+              </ExternalReference>
+              <ExternalReference id="95329">
+                <Source>OMIM</Source>
+                <Reference>608757</Reference>
+              </ExternalReference>
+              <ExternalReference id="97148">
+                <Source>Reactome</Source>
+                <Reference>Q92989</Reference>
+              </ExternalReference>
+              <ExternalReference id="95331">
+                <Source>SwissProt</Source>
+                <Reference>Q92989</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16543">
+                <GeneLocus>11q12.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23014">
+      <OrphaCode>411511</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411511</ExpertLink>
+      <Name lang="en">Angelman syndrome due to a point mutation</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="15680">
+            <Name lang="en">ubiquitin protein ligase E3A</Name>
+            <Symbol>UBE3A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ANCR</Synonym>
+              <Synonym lang="en">AS</Synonym>
+              <Synonym lang="en">Angelman syndrome</Synonym>
+              <Synonym lang="en">E6-AP</Synonym>
+              <Synonym lang="en">FLJ26981</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114062</Reference>
+              </ExternalReference>
+              <ExternalReference id="27687">
+                <Source>Genatlas</Source>
+                <Reference>UBE3A</Reference>
+              </ExternalReference>
+              <ExternalReference id="27689">
+                <Source>HGNC</Source>
+                <Reference>12496</Reference>
+              </ExternalReference>
+              <ExternalReference id="27688">
+                <Source>OMIM</Source>
+                <Reference>601623</Reference>
+              </ExternalReference>
+              <ExternalReference id="56762">
+                <Source>Reactome</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+              <ExternalReference id="32652">
+                <Source>SwissProt</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7863">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23015">
+      <OrphaCode>411515</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411515</ExpertLink>
+      <Name lang="en">Angelman syndrome due to imprinting defect in 15q11-q13</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="15534">
+            <Name lang="en">small nuclear ribonucleoprotein polypeptide N</Name>
+            <Symbol>SNRPN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">HCERN3</Synonym>
+              <Synonym lang="en">RT-LI</Synonym>
+              <Synonym lang="en">SM protein N</Synonym>
+              <Synonym lang="en">SM-D</Synonym>
+              <Synonym lang="en">SMN</Synonym>
+              <Synonym lang="en">SNRNP-N</Synonym>
+              <Synonym lang="en">SNURF-SNRPN</Synonym>
+              <Synonym lang="en">small nuclear ribonucleoprotein N</Synonym>
+              <Synonym lang="en">tissue-specific splicing protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126327">
+                <Source>Reactome</Source>
+                <Reference>P63162</Reference>
+              </ExternalReference>
+              <ExternalReference id="56860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128739</Reference>
+              </ExternalReference>
+              <ExternalReference id="36352">
+                <Source>Genatlas</Source>
+                <Reference>SNRPN</Reference>
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+              <ExternalReference id="26990">
+                <Source>HGNC</Source>
+                <Reference>11164</Reference>
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+              <ExternalReference id="26989">
+                <Source>OMIM</Source>
+                <Reference>182279</Reference>
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+              <ExternalReference id="32505">
+                <Source>SwissProt</Source>
+                <Reference>P63162</Reference>
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+            <LocusList count="1">
+              <Locus id="26639">
+                <GeneLocus>15q11.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
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+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="15680">
+            <Name lang="en">ubiquitin protein ligase E3A</Name>
+            <Symbol>UBE3A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ANCR</Synonym>
+              <Synonym lang="en">AS</Synonym>
+              <Synonym lang="en">Angelman syndrome</Synonym>
+              <Synonym lang="en">E6-AP</Synonym>
+              <Synonym lang="en">FLJ26981</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114062</Reference>
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+              <ExternalReference id="27687">
+                <Source>Genatlas</Source>
+                <Reference>UBE3A</Reference>
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+              <ExternalReference id="27689">
+                <Source>HGNC</Source>
+                <Reference>12496</Reference>
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+              <ExternalReference id="27688">
+                <Source>OMIM</Source>
+                <Reference>601623</Reference>
+              </ExternalReference>
+              <ExternalReference id="56762">
+                <Source>Reactome</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+              <ExternalReference id="32652">
+                <Source>SwissProt</Source>
+                <Reference>Q05086</Reference>
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+            <LocusList count="1">
+              <Locus id="7863">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11326269[PMID]_17347796[PMID]</SourceOfValidation>
+          <Gene id="15964">
+            <Name lang="en">ATPase phospholipid transporting 10A (putative)</Name>
+            <Symbol>ATP10A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ATPVA</Synonym>
+              <Synonym lang="en">ATPVC</Synonym>
+              <Synonym lang="en">KIAA0566</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193615">
+                <Source>IUPHAR</Source>
+                <Reference>862</Reference>
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+              <ExternalReference id="56759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206190</Reference>
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+              <ExternalReference id="37442">
+                <Source>Genatlas</Source>
+                <Reference>ATP10A</Reference>
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+              <ExternalReference id="29017">
+                <Source>HGNC</Source>
+                <Reference>13542</Reference>
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+              <ExternalReference id="29016">
+                <Source>OMIM</Source>
+                <Reference>605855</Reference>
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+              <ExternalReference id="82896">
+                <Source>Reactome</Source>
+                <Reference>O60312</Reference>
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+              <ExternalReference id="32975">
+                <Source>SwissProt</Source>
+                <Reference>O60312</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23032">
+      <OrphaCode>411712</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411712</ExpertLink>
+      <Name lang="en">Maternal riboflavin deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17689999[PMID]_21089064[PMID]</SourceOfValidation>
+          <Gene id="21742">
+            <Name lang="en">solute carrier family 52 member 1</Name>
+            <Symbol>SLC52A1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FLJ10060</Synonym>
+              <Synonym lang="en">GPCR42</Synonym>
+              <Synonym lang="en">PAR2</Synonym>
+              <Synonym lang="en">RFVT1</Synonym>
+              <Synonym lang="en">Riboflavin transporter 1</Synonym>
+              <Synonym lang="en">hRFT1</Synonym>
+              <Synonym lang="en">riboflavin transporter 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="83624">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132517</Reference>
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+              <ExternalReference id="100012">
+                <Source>Genatlas</Source>
+                <Reference>SLC52A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30225</Reference>
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+              <ExternalReference id="76209">
+                <Source>OMIM</Source>
+                <Reference>607883</Reference>
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+              <ExternalReference id="76211">
+                <Source>SwissProt</Source>
+                <Reference>Q9NWF4</Reference>
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+              <ExternalReference id="190503">
+                <Source>IUPHAR</Source>
+                <Reference>2571</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NWF4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411788</ExpertLink>
+      <Name lang="en">Familial isolated trichomegaly</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24989505[PMID]</SourceOfValidation>
+          <Gene id="23035">
+            <Name lang="en">fibroblast growth factor 5</Name>
+            <Symbol>FGF5</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="94753">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138675</Reference>
+              </ExternalReference>
+              <ExternalReference id="94751">
+                <Source>Genatlas</Source>
+                <Reference>FGF5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3683</Reference>
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+                <Source>OMIM</Source>
+                <Reference>165190</Reference>
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+              <ExternalReference id="97019">
+                <Source>Reactome</Source>
+                <Reference>P12034</Reference>
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+              <ExternalReference id="94752">
+                <Source>SwissProt</Source>
+                <Reference>P12034</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+          <SourceOfValidation>24814191[PMID]</SourceOfValidation>
+          <Gene id="23078">
+            <Name lang="en">dedicator of cytokinesis 7</Name>
+            <Symbol>DOCK7</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1771</Synonym>
+              <Synonym lang="en">ZIR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116641</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>19190</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615730</Reference>
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+              <ExternalReference id="94982">
+                <Source>Reactome</Source>
+                <Reference>Q96N67</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96N67</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23036">
+      <OrphaCode>411969</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411969</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Metabolic syndrome</Name>
+      <DisorderType id="21422">
+        <Name lang="en">Clinical syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17332414[PMID]_23703864[PMID]</SourceOfValidation>
+          <Gene id="17391">
+            <Name lang="en">LDL receptor related protein 6</Name>
+            <Symbol>LRP6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ADCAD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070018</Reference>
+              </ExternalReference>
+              <ExternalReference id="37211">
+                <Source>Genatlas</Source>
+                <Reference>LRP6</Reference>
+              </ExternalReference>
+              <ExternalReference id="37213">
+                <Source>HGNC</Source>
+                <Reference>6698</Reference>
+              </ExternalReference>
+              <ExternalReference id="37212">
+                <Source>OMIM</Source>
+                <Reference>603507</Reference>
+              </ExternalReference>
+              <ExternalReference id="87981">
+                <Source>Reactome</Source>
+                <Reference>O75581</Reference>
+              </ExternalReference>
+              <ExternalReference id="37214">
+                <Source>SwissProt</Source>
+                <Reference>O75581</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10139">
+                <GeneLocus>12p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24827035[PMID]</SourceOfValidation>
+          <Gene id="23148">
+            <Name lang="en">dual specificity tyrosine phosphorylation regulated kinase 1B</Name>
+            <Symbol>DYRK1B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MIRK</Synonym>
+              <Synonym lang="en">minibrain-related kinase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143055">
+                <Source>Reactome</Source>
+                <Reference>Q9Y463</Reference>
+              </ExternalReference>
+              <ExternalReference id="95353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105204</Reference>
+              </ExternalReference>
+              <ExternalReference id="95351">
+                <Source>Genatlas</Source>
+                <Reference>DYRK1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="95349">
+                <Source>HGNC</Source>
+                <Reference>3092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95354">
+                <Source>IUPHAR</Source>
+                <Reference>2010</Reference>
+              </ExternalReference>
+              <ExternalReference id="95350">
+                <Source>OMIM</Source>
+                <Reference>604556</Reference>
+              </ExternalReference>
+              <ExternalReference id="95352">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y463</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37827">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14645853[PMID]_15496429[PMID]</SourceOfValidation>
+          <Gene id="23149">
+            <Name lang="en">myocyte enhancer factor 2A</Name>
+            <Symbol>MEF2A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">RSRFC4</Synonym>
+              <Synonym lang="en">RSRFC9</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068305</Reference>
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+              <ExternalReference id="95358">
+                <Source>Genatlas</Source>
+                <Reference>MEF2A</Reference>
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+              <ExternalReference id="95356">
+                <Source>HGNC</Source>
+                <Reference>6993</Reference>
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+              <ExternalReference id="95357">
+                <Source>OMIM</Source>
+                <Reference>600660</Reference>
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+              <ExternalReference id="97150">
+                <Source>Reactome</Source>
+                <Reference>Q02078</Reference>
+              </ExternalReference>
+              <ExternalReference id="95359">
+                <Source>SwissProt</Source>
+                <Reference>Q02078</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>15q26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23038">
+      <OrphaCode>412022</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=412022</ExpertLink>
+      <Name lang="en">Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24768550[PMID]</SourceOfValidation>
+          <Gene id="23143">
+            <Name lang="en">aspartate beta-hydroxylase</Name>
+            <Symbol>ASPH</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BAH</Synonym>
+              <Synonym lang="en">CASQ2BP1</Synonym>
+              <Synonym lang="en">HAAH</Synonym>
+              <Synonym lang="en">JCTN</Synonym>
+              <Synonym lang="en">humbug</Synonym>
+              <Synonym lang="en">junctate</Synonym>
+              <Synonym lang="en">junctin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95318">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198363</Reference>
+              </ExternalReference>
+              <ExternalReference id="95316">
+                <Source>Genatlas</Source>
+                <Reference>ASPH</Reference>
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+              <ExternalReference id="95314">
+                <Source>HGNC</Source>
+                <Reference>757</Reference>
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+              <ExternalReference id="95315">
+                <Source>OMIM</Source>
+                <Reference>600582</Reference>
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+              <ExternalReference id="97145">
+                <Source>Reactome</Source>
+                <Reference>Q12797</Reference>
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+              <ExternalReference id="95317">
+                <Source>SwissProt</Source>
+                <Reference>Q12797</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23025">
+      <OrphaCode>411641</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411641</ExpertLink>
+      <Name lang="en">Ocular cystinosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301574[PMID]</SourceOfValidation>
+          <Gene id="15820">
+            <Name lang="en">cystinosin, lysosomal cystine transporter</Name>
+            <Symbol>CTNS</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">PQLC4</Synonym>
+              <Synonym lang="en">SLC66A4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193631">
+                <Source>IUPHAR</Source>
+                <Reference>3163</Reference>
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+              <ExternalReference id="56695">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000040531</Reference>
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+              <ExternalReference id="28346">
+                <Source>Genatlas</Source>
+                <Reference>CTNS</Reference>
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+              <ExternalReference id="28344">
+                <Source>HGNC</Source>
+                <Reference>2518</Reference>
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+              <ExternalReference id="28343">
+                <Source>OMIM</Source>
+                <Reference>606272</Reference>
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+              <ExternalReference id="97200">
+                <Source>Reactome</Source>
+                <Reference>O60931</Reference>
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+              <ExternalReference id="32831">
+                <Source>SwissProt</Source>
+                <Reference>O60931</Reference>
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+    <Disorder id="23024">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=411634</ExpertLink>
+      <Name lang="en">Juvenile nephropathic cystinosis</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301574[PMID]</SourceOfValidation>
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+            <Name lang="en">cystinosin, lysosomal cystine transporter</Name>
+            <Symbol>CTNS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CTNS-LSB</Synonym>
+              <Synonym lang="en">PQLC4</Synonym>
+              <Synonym lang="en">SLC66A4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193631">
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+                <Reference>3163</Reference>
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+              <ExternalReference id="56695">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000040531</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTNS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2518</Reference>
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+              <ExternalReference id="28343">
+                <Source>OMIM</Source>
+                <Reference>606272</Reference>
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+              <ExternalReference id="97200">
+                <Source>Reactome</Source>
+                <Reference>O60931</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60931</Reference>
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+      <Name lang="en">Multicentric osteolysis-nodulosis-arthropathy spectrum</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16453">
+            <Name lang="en">matrix metallopeptidase 2</Name>
+            <Symbol>MMP2</Symbol>
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+              <Synonym lang="en">TBE-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>7166</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1629</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P08253</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087245</Reference>
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+            <Name lang="en">matrix metallopeptidase 14</Name>
+            <Symbol>MMP14</Symbol>
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+              <Synonym lang="en">Membrane type 1 metalloprotease</Synonym>
+              <Synonym lang="en">membrane type 1 metalloprotease</Synonym>
+              <Synonym lang="en">membrane type 1-matrix metalloproteinase</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P50281</Reference>
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+                <Source>Ensembl</Source>
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+                <Reference>ENSG00000102452</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8IZF0</Reference>
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+            <Name lang="en">unc-80 homolog, NALCN channel complex subunit</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8N2C7</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+    <Disorder id="22641">
+      <OrphaCode>391677</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391677</ExpertLink>
+      <Name lang="en">Short stature-optic atrophy-Pelger-Huët anomaly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20577004[PMID]</SourceOfValidation>
+          <Gene id="22667">
+            <Name lang="en">NBAS subunit of NRZ tethering complex</Name>
+            <Symbol>NBAS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NAG</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100352">
+                <Source>Reactome</Source>
+                <Reference>A2RRP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="87722">
+                <Source>HGNC</Source>
+                <Reference>15625</Reference>
+              </ExternalReference>
+              <ExternalReference id="87723">
+                <Source>OMIM</Source>
+                <Reference>608025</Reference>
+              </ExternalReference>
+              <ExternalReference id="87725">
+                <Source>SwissProt</Source>
+                <Reference>A2RRP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="88019">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151779</Reference>
+              </ExternalReference>
+              <ExternalReference id="87724">
+                <Source>Genatlas</Source>
+                <Reference>NBAS</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19279">
+                <GeneLocus>2p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22625">
+      <OrphaCode>391474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391474</ExpertLink>
+      <Name lang="en">Frontorhiny</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19409524[PMID]</SourceOfValidation>
+          <Gene id="18368">
+            <Name lang="en">ALX homeobox 3</Name>
+            <Symbol>ALX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58132">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156150</Reference>
+              </ExternalReference>
+              <ExternalReference id="41795">
+                <Source>Genatlas</Source>
+                <Reference>ALX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="41796">
+                <Source>HGNC</Source>
+                <Reference>449</Reference>
+              </ExternalReference>
+              <ExternalReference id="41797">
+                <Source>OMIM</Source>
+                <Reference>606014</Reference>
+              </ExternalReference>
+              <ExternalReference id="41798">
+                <Source>SwissProt</Source>
+                <Reference>O95076</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10691">
+                <GeneLocus>1p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="22629">
+      <OrphaCode>391490</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391490</ExpertLink>
+      <Name lang="en">Adult-onset myasthenia gravis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25643325[PMID]</SourceOfValidation>
+          <Gene id="15633">
+            <Name lang="en">TNF receptor superfamily member 11a</Name>
+            <Symbol>TNFRSF11A</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CD265</Synonym>
+              <Synonym lang="en">FEO</Synonym>
+              <Synonym lang="en">ODFR</Synonym>
+              <Synonym lang="en">RANK</Synonym>
+              <Synonym lang="en">TRANCE receptor</Synonym>
+              <Synonym lang="en">TRANCE-R</Synonym>
+              <Synonym lang="en">familial expansile osteolysis</Synonym>
+              <Synonym lang="en">osteoclast differentiation factor receptor</Synonym>
+              <Synonym lang="en">receptor activator of nuclear factor kappa B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193639">
+                <Source>IUPHAR</Source>
+                <Reference>1881</Reference>
+              </ExternalReference>
+              <ExternalReference id="58280">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141655</Reference>
+              </ExternalReference>
+              <ExternalReference id="27465">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF11A</Reference>
+              </ExternalReference>
+              <ExternalReference id="27463">
+                <Source>HGNC</Source>
+                <Reference>11908</Reference>
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+              <ExternalReference id="27462">
+                <Source>OMIM</Source>
+                <Reference>603499</Reference>
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+              <ExternalReference id="97188">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6Q6</Reference>
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+              <ExternalReference id="32605">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6Q6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66687">
+                <GeneLocus>18q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25643325[PMID]</SourceOfValidation>
+          <Gene id="15818">
+            <Name lang="en">cytotoxic T-lymphocyte associated protein 4</Name>
+            <Symbol>CTLA4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CD</Synonym>
+              <Synonym lang="en">CD152</Synonym>
+              <Synonym lang="en">CTLA-4</Synonym>
+              <Synonym lang="en">GSE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193633">
+                <Source>IUPHAR</Source>
+                <Reference>2743</Reference>
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+              <ExternalReference id="56843">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163599</Reference>
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+              <ExternalReference id="37414">
+                <Source>Genatlas</Source>
+                <Reference>CTLA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="28336">
+                <Source>HGNC</Source>
+                <Reference>2505</Reference>
+              </ExternalReference>
+              <ExternalReference id="28335">
+                <Source>OMIM</Source>
+                <Reference>123890</Reference>
+              </ExternalReference>
+              <ExternalReference id="56844">
+                <Source>Reactome</Source>
+                <Reference>P16410</Reference>
+              </ExternalReference>
+              <ExternalReference id="32829">
+                <Source>SwissProt</Source>
+                <Reference>P16410</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66675">
+                <GeneLocus>2q33.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25643325[PMID]</SourceOfValidation>
+          <Gene id="16829">
+            <Name lang="en">major histocompatibility complex, class II, DQ alpha 1</Name>
+            <Symbol>HLA-DQA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CELIAC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="35151">
+                <Source>OMIM</Source>
+                <Reference>146880</Reference>
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+              <ExternalReference id="82664">
+                <Source>Reactome</Source>
+                <Reference>P01909</Reference>
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+              <ExternalReference id="82609">
+                <Source>SwissProt</Source>
+                <Reference>P01909</Reference>
+              </ExternalReference>
+              <ExternalReference id="57095">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196735</Reference>
+              </ExternalReference>
+              <ExternalReference id="35148">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4942</Reference>
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+            <LocusList count="1">
+              <Locus id="24059">
+                <GeneLocus>6p21.32</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22628">
+      <OrphaCode>391487</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391487</ExpertLink>
+      <Name lang="en">Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31263572[PMID]</SourceOfValidation>
+          <Gene id="29698">
+            <Name lang="en">target of myb1 membrane trafficking protein</Name>
+            <Symbol>TOM1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="187193">
+                <Source>OMIM</Source>
+                <Reference>604700</Reference>
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+              <ExternalReference id="187194">
+                <Source>Reactome</Source>
+                <Reference>O60784</Reference>
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+              <ExternalReference id="187195">
+                <Source>SwissProt</Source>
+                <Reference>O60784</Reference>
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+              <ExternalReference id="187196">
+                <Source>HGNC</Source>
+                <Reference>11982</Reference>
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+              <ExternalReference id="187192">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100284</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>22q12.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23534974[PMID]</SourceOfValidation>
+          <Gene id="15563">
+            <Name lang="en">signal transducer and activator of transcription 1</Name>
+            <Symbol>STAT1</Symbol>
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+              <Synonym lang="en">transcription factor ISGF-3 components p91/p84</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57288">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115415</Reference>
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+              <ExternalReference id="37369">
+                <Source>Genatlas</Source>
+                <Reference>STAT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11362</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P42224</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="22635">
+      <OrphaCode>391646</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391646</ExpertLink>
+      <Name lang="en">Feingold syndrome type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>21892160[PMID]</SourceOfValidation>
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+            <Name lang="en">miR-17-92a-1 cluster host gene</Name>
+            <Symbol>MIR17HG</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">FLJ14178</Synonym>
+              <Synonym lang="en">LINC00048</Synonym>
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+              <Synonym lang="en">MIRH1</Synonym>
+              <Synonym lang="en">NCRNA00048</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 48</Synonym>
+              <Synonym lang="en">miR-17-92</Synonym>
+              <Synonym lang="en">non-protein coding RNA 48</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58046">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000215417</Reference>
+              </ExternalReference>
+              <ExternalReference id="54834">
+                <Source>Genatlas</Source>
+                <Reference>MIR17HG</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23564</Reference>
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+              <ExternalReference id="54837">
+                <Source>OMIM</Source>
+                <Reference>609415</Reference>
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+              <ExternalReference id="54836">
+                <Source>SwissProt</Source>
+                <Reference>Q75NE6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>391641</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391641</ExpertLink>
+      <Name lang="en">Feingold syndrome type 1</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">MYCN proto-oncogene, bHLH transcription factor</Name>
+            <Symbol>MYCN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MYCNOT</Synonym>
+              <Synonym lang="en">N-myc</Synonym>
+              <Synonym lang="en">bHLHe37</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P04198</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134323</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYCN</Reference>
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+      <Name lang="en">Homozygous familial hypercholesterolemia</Name>
+      <DisorderType id="21394">
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+          <SourceOfValidation>20172523[PMID]</SourceOfValidation>
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+            <Name lang="en">ATP binding cassette subfamily G member 5</Name>
+            <Symbol>ABCG5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">STSL</Synonym>
+              <Synonym lang="en">sterolin 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>794</Reference>
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+              <ExternalReference id="24708">
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+                <Reference>13886</Reference>
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+                <Reference>605459</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H222</Reference>
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+                <Reference>ENSG00000138075</Reference>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20172523[PMID]</SourceOfValidation>
+          <Gene id="15060">
+            <Name lang="en">ATP binding cassette subfamily G member 8</Name>
+            <Symbol>ABCG8</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GBD4</Synonym>
+              <Synonym lang="en">gallbladder disease 4</Synonym>
+              <Synonym lang="en">sterolin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193563">
+                <Source>IUPHAR</Source>
+                <Reference>795</Reference>
+              </ExternalReference>
+              <ExternalReference id="57083">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143921</Reference>
+              </ExternalReference>
+              <ExternalReference id="36555">
+                <Source>Genatlas</Source>
+                <Reference>ABCG8</Reference>
+              </ExternalReference>
+              <ExternalReference id="24711">
+                <Source>HGNC</Source>
+                <Reference>13887</Reference>
+              </ExternalReference>
+              <ExternalReference id="24710">
+                <Source>OMIM</Source>
+                <Reference>605460</Reference>
+              </ExternalReference>
+              <ExternalReference id="57084">
+                <Source>Reactome</Source>
+                <Reference>Q9H221</Reference>
+              </ExternalReference>
+              <ExternalReference id="32337">
+                <Source>SwissProt</Source>
+                <Reference>Q9H221</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66535">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24404629[PMID]</SourceOfValidation>
+          <Gene id="15938">
+            <Name lang="en">apolipoprotein B</Name>
+            <Symbol>APOB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57059">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084674</Reference>
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+              <ExternalReference id="28893">
+                <Source>Genatlas</Source>
+                <Reference>APOB</Reference>
+              </ExternalReference>
+              <ExternalReference id="28891">
+                <Source>HGNC</Source>
+                <Reference>603</Reference>
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+              <ExternalReference id="28890">
+                <Source>OMIM</Source>
+                <Reference>107730</Reference>
+              </ExternalReference>
+              <ExternalReference id="57060">
+                <Source>Reactome</Source>
+                <Reference>P04114</Reference>
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+              <ExternalReference id="32949">
+                <Source>SwissProt</Source>
+                <Reference>P04114</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>2p24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11326085[PMID]</SourceOfValidation>
+          <Gene id="16348">
+            <Name lang="en">low density lipoprotein receptor adaptor protein 1</Name>
+            <Symbol>LDLRAP1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ARH</Synonym>
+              <Synonym lang="en">ARH2</Synonym>
+              <Synonym lang="en">DKFZp586D0624</Synonym>
+              <Synonym lang="en">FHCB1</Synonym>
+              <Synonym lang="en">FHCB2</Synonym>
+              <Synonym lang="en">MGC34705</Synonym>
+              <Synonym lang="en">autosomal recessive hypercholesterolemia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30886">
+                <Source>OMIM</Source>
+                <Reference>605747</Reference>
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+              <ExternalReference id="57088">
+                <Source>Reactome</Source>
+                <Reference>Q5SW96</Reference>
+              </ExternalReference>
+              <ExternalReference id="33413">
+                <Source>SwissProt</Source>
+                <Reference>Q5SW96</Reference>
+              </ExternalReference>
+              <ExternalReference id="57087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157978</Reference>
+              </ExternalReference>
+              <ExternalReference id="36748">
+                <Source>Genatlas</Source>
+                <Reference>LDLRAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30887">
+                <Source>HGNC</Source>
+                <Reference>18640</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24404629[PMID]</SourceOfValidation>
+          <Gene id="16625">
+            <Name lang="en">proprotein convertase subtilisin/kexin type 9</Name>
+            <Symbol>PCSK9</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FH3</Synonym>
+              <Synonym lang="en">NARC-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57089">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169174</Reference>
+              </ExternalReference>
+              <ExternalReference id="32179">
+                <Source>Genatlas</Source>
+                <Reference>PCSK9</Reference>
+              </ExternalReference>
+              <ExternalReference id="32181">
+                <Source>HGNC</Source>
+                <Reference>20001</Reference>
+              </ExternalReference>
+              <ExternalReference id="83022">
+                <Source>IUPHAR</Source>
+                <Reference>2388</Reference>
+              </ExternalReference>
+              <ExternalReference id="32180">
+                <Source>OMIM</Source>
+                <Reference>607786</Reference>
+              </ExternalReference>
+              <ExternalReference id="33729">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBP7</Reference>
+              </ExternalReference>
+              <ExternalReference id="126367">
+                <Source>Reactome</Source>
+                <Reference>Q8NBP7</Reference>
+              </ExternalReference>
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+                <GeneLocus>1p32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24404629[PMID]</SourceOfValidation>
+          <Gene id="16347">
+            <Name lang="en">low density lipoprotein receptor</Name>
+            <Symbol>LDLR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LDLCQ2</Synonym>
+              <Synonym lang="en">familial hypercholesterolemia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57085">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130164</Reference>
+              </ExternalReference>
+              <ExternalReference id="37198">
+                <Source>Genatlas</Source>
+                <Reference>LDLR</Reference>
+              </ExternalReference>
+              <ExternalReference id="30883">
+                <Source>HGNC</Source>
+                <Reference>6547</Reference>
+              </ExternalReference>
+              <ExternalReference id="30882">
+                <Source>OMIM</Source>
+                <Reference>606945</Reference>
+              </ExternalReference>
+              <ExternalReference id="57086">
+                <Source>Reactome</Source>
+                <Reference>P01130</Reference>
+              </ExternalReference>
+              <ExternalReference id="33412">
+                <Source>SwissProt</Source>
+                <Reference>P01130</Reference>
+              </ExternalReference>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="22608">
+      <OrphaCode>391343</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391343</ExpertLink>
+      <Name lang="en">Fatal post-viral neurodegenerative disorder</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23443029[PMID]</SourceOfValidation>
+          <Gene id="15136">
+            <Name lang="en">perforin 1</Name>
+            <Symbol>PRF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HPLH2</Synonym>
+              <Synonym lang="en">P1</Synonym>
+              <Synonym lang="en">PFP</Synonym>
+              <Synonym lang="en">Perforin</Synonym>
+              <Synonym lang="en">perforin 1 (preforming protein)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="193559">
+                <Source>IUPHAR</Source>
+                <Reference>3100</Reference>
+              </ExternalReference>
+              <ExternalReference id="57114">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180644</Reference>
+              </ExternalReference>
+              <ExternalReference id="25083">
+                <Source>Genatlas</Source>
+                <Reference>PRF1</Reference>
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+              <ExternalReference id="25081">
+                <Source>HGNC</Source>
+                <Reference>9360</Reference>
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+              <ExternalReference id="25080">
+                <Source>OMIM</Source>
+                <Reference>170280</Reference>
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+              <ExternalReference id="33247">
+                <Source>SwissProt</Source>
+                <Reference>P14222</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391348</ExpertLink>
+      <Name lang="en">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24119684[PMID]</SourceOfValidation>
+          <Gene id="22654">
+            <Name lang="en">sideroflexin 4</Name>
+            <Symbol>SFXN4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SLC56A4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="87630">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183605</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SFXN4</Reference>
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+              <ExternalReference id="86200">
+                <Source>HGNC</Source>
+                <Reference>16088</Reference>
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+              <ExternalReference id="86201">
+                <Source>OMIM</Source>
+                <Reference>615564</Reference>
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+              <ExternalReference id="86203">
+                <Source>SwissProt</Source>
+                <Reference>Q6P4A7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">SURF1-related Charcot-Marie-Tooth disease type 4</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">SURF1 cytochrome c oxidase assembly factor</Name>
+            <Symbol>SURF1</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">surfeit locus protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148290</Reference>
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+                <Reference>SURF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11474</Reference>
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+                <Source>OMIM</Source>
+                <Reference>185620</Reference>
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+              <ExternalReference id="97185">
+                <Source>Reactome</Source>
+                <Reference>Q15526</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Growth retardation-mild developmental delay-chronic hepatitis syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">SH2B adaptor protein 3</Name>
+            <Symbol>SH2B3</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111252</Reference>
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+                <Reference>29605</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UQQ2</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Intellectual disability-severe speech delay-mild dysmorphism syndrome</Name>
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+            <Name lang="en">forkhead box P1</Name>
+            <Symbol>FOXP1</Symbol>
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+              <Synonym lang="en">HSPC215</Synonym>
+              <Synonym lang="en">PAX5/FOXP1 fusion protein</Synonym>
+              <Synonym lang="en">QRF1</Synonym>
+              <Synonym lang="en">fork head-related protein like B</Synonym>
+              <Synonym lang="en">glutamine-rich factor 1</Synonym>
+              <Synonym lang="en">hFKH1B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114861</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FOXP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3823</Reference>
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+      <Name lang="en">Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome</Name>
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+          <SourceOfValidation>24139043[PMID]</SourceOfValidation>
+          <Gene id="22662">
+            <Name lang="en">asparagine synthetase (glutamine-hydrolyzing)</Name>
+            <Symbol>ASNS</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070669</Reference>
+              </ExternalReference>
+              <ExternalReference id="87651">
+                <Source>Genatlas</Source>
+                <Reference>ASNS</Reference>
+              </ExternalReference>
+              <ExternalReference id="87649">
+                <Source>HGNC</Source>
+                <Reference>753</Reference>
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+              <ExternalReference id="87650">
+                <Source>OMIM</Source>
+                <Reference>108370</Reference>
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+              <ExternalReference id="88010">
+                <Source>Reactome</Source>
+                <Reference>P08243</Reference>
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+              <ExternalReference id="87652">
+                <Source>SwissProt</Source>
+                <Reference>P08243</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="13059">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22616">
+      <OrphaCode>391389</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391389</ExpertLink>
+      <Name lang="en">Familial episodic pain syndrome with predominantly upper body involvement</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20547126[PMID]</SourceOfValidation>
+          <Gene id="22663">
+            <Name lang="en">transient receptor potential cation channel subfamily A member 1</Name>
+            <Symbol>TRPA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>O75762</Reference>
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+              <ExternalReference id="88013">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104321</Reference>
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+              <ExternalReference id="87661">
+                <Source>Genatlas</Source>
+                <Reference>TRPA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>497</Reference>
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+                <Reference>485</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75762</Reference>
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+      <OrphaCode>391392</OrphaCode>
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+      <Name lang="en">Familial episodic pain syndrome with predominantly lower limb involvement</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">sodium voltage-gated channel alpha subunit 11</Name>
+            <Symbol>SCN11A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NaN</Synonym>
+              <Synonym lang="en">Nav1.9</Synonym>
+              <Synonym lang="en">SNS-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168356</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SCN11A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10583</Reference>
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+                <Reference>586</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UI33</Reference>
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+                <Reference>Q9UI33</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+      <Name lang="en">Hereditary sensory and autonomic neuropathy type 7</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>SCN11A</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">Nav1.9</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UI33</Reference>
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+            <Name lang="en">protein phosphatase 1 regulatory subunit 15B</Name>
+            <Symbol>PPP1R15B</Symbol>
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+              <Synonym lang="en">FLJ14744</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Atypical juvenile parkinsonism</Name>
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+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C6</Name>
+            <Symbol>DNAJC6</Symbol>
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+              <Synonym lang="en">auxilin</Synonym>
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+            <Name lang="en">synaptojanin 1</Name>
+            <Symbol>SYNJ1</Symbol>
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+              <Synonym lang="en">inositol polyphosphate-5-phosphatase G</Synonym>
+              <Synonym lang="en">phosphoinositide 5-phosphatase</Synonym>
+              <Synonym lang="en">synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">HSD10 disease, infantile type</Name>
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+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 10</Name>
+            <Symbol>HSD17B10</Symbol>
+            <SynonymList count="12">
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+              <Synonym lang="en">AB-binding alcohol dehydrogenase</Synonym>
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+              <Synonym lang="en">MHBD</Synonym>
+              <Synonym lang="en">MRPP2</Synonym>
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+              <Synonym lang="en">mitochondrial RNase P subunit 2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 5C, member 1</Synonym>
+              <Synonym lang="en">type 10 17b-HSD</Synonym>
+              <Synonym lang="en">type 10 17beta-hydroxysteroid dehydrogenase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000072506</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HSD17B10</Reference>
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+                <Reference>4800</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q99714</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99714</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22811">
+                <GeneLocus>Xp11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="22623">
+      <OrphaCode>391457</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391457</ExpertLink>
+      <Name lang="en">HSD10 disease, neonatal type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22127393[PMID]</SourceOfValidation>
+          <Gene id="16223">
+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 10</Name>
+            <Symbol>HSD17B10</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">17b-HSD10</Synonym>
+              <Synonym lang="en">AB-binding alcohol dehydrogenase</Synonym>
+              <Synonym lang="en">ABAD</Synonym>
+              <Synonym lang="en">CAMR</Synonym>
+              <Synonym lang="en">ERAB</Synonym>
+              <Synonym lang="en">MHBD</Synonym>
+              <Synonym lang="en">MRPP2</Synonym>
+              <Synonym lang="en">SDR5C1</Synonym>
+              <Synonym lang="en">mitochondrial RNase P subunit 2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 5C, member 1</Synonym>
+              <Synonym lang="en">type 10 17b-HSD</Synonym>
+              <Synonym lang="en">type 10 17beta-hydroxysteroid dehydrogenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072506</Reference>
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+              <ExternalReference id="37119">
+                <Source>Genatlas</Source>
+                <Reference>HSD17B10</Reference>
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+              <ExternalReference id="30299">
+                <Source>HGNC</Source>
+                <Reference>4800</Reference>
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+              <ExternalReference id="30298">
+                <Source>OMIM</Source>
+                <Reference>300256</Reference>
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+              <ExternalReference id="59013">
+                <Source>Reactome</Source>
+                <Reference>Q99714</Reference>
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+              <ExternalReference id="33287">
+                <Source>SwissProt</Source>
+                <Reference>Q99714</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.22</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22601">
+      <OrphaCode>391307</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391307</ExpertLink>
+      <Name lang="en">Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23956177[PMID]</SourceOfValidation>
+          <Gene id="22651">
+            <Name lang="en">TELO2 interacting protein 2</Name>
+            <Symbol>TTI2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ23263</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="87626">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129696</Reference>
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+              <ExternalReference id="86179">
+                <Source>Genatlas</Source>
+                <Reference>TTI2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26262</Reference>
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+              <ExternalReference id="86178">
+                <Source>OMIM</Source>
+                <Reference>614426</Reference>
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+              <ExternalReference id="86180">
+                <Source>SwissProt</Source>
+                <Reference>Q6NXR4</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>8p12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="22603">
+      <OrphaCode>391316</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=391316</ExpertLink>
+      <Name lang="en">Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23686771[PMID]</SourceOfValidation>
+          <Gene id="22652">
+            <Name lang="en">tyrosine kinase non receptor 2</Name>
+            <Symbol>TNK2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ACK</Synonym>
+              <Synonym lang="en">ACK1</Synonym>
+              <Synonym lang="en">activated Cdc42-associated kinase 1</Synonym>
+              <Synonym lang="en">p21cdc42Hs</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143097">
+                <Source>Reactome</Source>
+                <Reference>Q07912</Reference>
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+              <ExternalReference id="87627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000061938</Reference>
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+              <ExternalReference id="86184">
+                <Source>Genatlas</Source>
+                <Reference>TNK2</Reference>
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+              <ExternalReference id="86182">
+                <Source>HGNC</Source>
+                <Reference>19297</Reference>
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+              <ExternalReference id="87628">
+                <Source>IUPHAR</Source>
+                <Reference>2246</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606994</Reference>
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+              <ExternalReference id="86185">
+                <Source>SwissProt</Source>
+                <Reference>Q07912</Reference>
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+                <GeneLocus>3q29</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22602">
+      <OrphaCode>391311</OrphaCode>
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+      <Name lang="en">Susceptibility to viral and mycobacterial infections due to STAT1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23403048[PMID]_23534974[PMID]_23541320[PMID]</SourceOfValidation>
+          <Gene id="15563">
+            <Name lang="en">signal transducer and activator of transcription 1</Name>
+            <Symbol>STAT1</Symbol>
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+              <Synonym lang="en">ISGF-3</Synonym>
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+              <Synonym lang="en">transcription factor ISGF-3 components p91/p84</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115415</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>STAT1</Reference>
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+                <Reference>11362</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P42224</Reference>
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+      <Name lang="en">East Texas bleeding disorder</Name>
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+            <Name lang="en">coagulation factor V</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">X-linked osteoporosis with fractures</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">plastin 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome</Name>
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+                <Source>Ensembl</Source>
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+            <Symbol>MALT1</Symbol>
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+      <Name lang="en">TCR-alpha-beta-positive T-cell deficiency</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21206088[PMID]</SourceOfValidation>
+          <Gene id="22849">
+            <Name lang="en">T-cell receptor alpha constant</Name>
+            <Symbol>TRAC</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277734</Reference>
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+              <ExternalReference id="89803">
+                <Source>Genatlas</Source>
+                <Reference>TRAC</Reference>
+              </ExternalReference>
+              <ExternalReference id="89801">
+                <Source>HGNC</Source>
+                <Reference>12029</Reference>
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+                <Source>OMIM</Source>
+                <Reference>186880</Reference>
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+              <ExternalReference id="91568">
+                <Source>Reactome</Source>
+                <Reference>P01848</Reference>
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+              <ExternalReference id="89804">
+                <Source>SwissProt</Source>
+                <Reference>P01848</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="14591">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22711">
+      <OrphaCode>397951</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397951</ExpertLink>
+      <Name lang="en">Microcephaly-thin corpus callosum-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24084144[PMID]</SourceOfValidation>
+          <Gene id="22847">
+            <Name lang="en">TATA-box binding protein associated factor 2</Name>
+            <Symbol>TAF2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CIF150</Synonym>
+              <Synonym lang="en">TAFII150</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="89793">
+                <Source>HGNC</Source>
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+              <ExternalReference id="89794">
+                <Source>OMIM</Source>
+                <Reference>604912</Reference>
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+              <ExternalReference id="91603">
+                <Source>Reactome</Source>
+                <Reference>Q6P1X5</Reference>
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+              <ExternalReference id="89796">
+                <Source>SwissProt</Source>
+                <Reference>Q6P1X5</Reference>
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+              <ExternalReference id="91567">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064313</Reference>
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+              <ExternalReference id="89795">
+                <Source>Genatlas</Source>
+                <Reference>TAF2</Reference>
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+            <LocusList count="1">
+              <Locus id="24093">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="22710">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397946</ExpertLink>
+      <Name lang="en">Autosomal spastic paraplegia type 58</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24319291[PMID]_24482476[PMID]</SourceOfValidation>
+          <Gene id="22736">
+            <Name lang="en">kinesin family member 1C</Name>
+            <Symbol>KIF1C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SPAX2</Synonym>
+              <Synonym lang="en">SPG58</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100353">
+                <Source>Reactome</Source>
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+              <ExternalReference id="89577">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129250</Reference>
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+              <ExternalReference id="88058">
+                <Source>Genatlas</Source>
+                <Reference>KIF1C</Reference>
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+              <ExternalReference id="88056">
+                <Source>HGNC</Source>
+                <Reference>6317</Reference>
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+              <ExternalReference id="88057">
+                <Source>OMIM</Source>
+                <Reference>603060</Reference>
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+              <ExternalReference id="88059">
+                <Source>SwissProt</Source>
+                <Reference>O43896</Reference>
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+                <GeneLocus>17p13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22709">
+      <OrphaCode>397941</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397941</ExpertLink>
+      <Name lang="en">MAN1B1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24348268[PMID]</SourceOfValidation>
+          <Gene id="20401">
+            <Name lang="en">mannosidase alpha class 1B member 1</Name>
+            <Symbol>MAN1B1</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">'alpha 1,2-mannosidase'</Synonym>
+              <Synonym lang="en">'endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1'</Synonym>
+              <Synonym lang="en">Alpha 1,2-mannosidase</Synonym>
+              <Synonym lang="en">ER alpha 1,2-mannosidase</Synonym>
+              <Synonym lang="en">ERManI</Synonym>
+              <Synonym lang="en">Endoplasmic reticulum alpha-mannosidase 1</Synonym>
+              <Synonym lang="en">Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1</Synonym>
+              <Synonym lang="en">MANA-ER</Synonym>
+              <Synonym lang="en">MRT15</Synonym>
+              <Synonym lang="en">Man9GlcNAc2-specific processing alpha-mannosidase</Synonym>
+              <Synonym lang="en">endoplasmic Reticulum Class I alpha-mannosidase</Synonym>
+              <Synonym lang="en">endoplasmic reticulum alpha-mannosidase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59497">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177239</Reference>
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+              <ExternalReference id="53953">
+                <Source>Genatlas</Source>
+                <Reference>MAN1B1</Reference>
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+              <ExternalReference id="53950">
+                <Source>HGNC</Source>
+                <Reference>6823</Reference>
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+              <ExternalReference id="53951">
+                <Source>OMIM</Source>
+                <Reference>604346</Reference>
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+              <ExternalReference id="59498">
+                <Source>Reactome</Source>
+                <Reference>Q9UKM7</Reference>
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+              <ExternalReference id="53952">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKM7</Reference>
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+      <OrphaCode>397937</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397937</ExpertLink>
+      <Name lang="en">Polyglucosan body myopathy type 1</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23798481[PMID]_23674175[PMID]</SourceOfValidation>
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+            <Name lang="en">RANBP2-type and C3HC4-type zinc finger containing 1</Name>
+            <Symbol>RBCK1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HOIL1</Synonym>
+              <Synonym lang="en">Heme-oxidized IRP2 ubiquitin ligase 1</Synonym>
+              <Synonym lang="en">RBCK2</Synonym>
+              <Synonym lang="en">RNF54</Synonym>
+              <Synonym lang="en">UBCE7IP3</Synonym>
+              <Synonym lang="en">XAP4</Synonym>
+              <Synonym lang="en">ZRANB4</Synonym>
+              <Synonym lang="en">heme-oxidized IRP2 ubiquitin ligase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83744">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125826</Reference>
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+              <ExternalReference id="78434">
+                <Source>Genatlas</Source>
+                <Reference>RBCK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15864</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610924</Reference>
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+              <ExternalReference id="83743">
+                <Source>Reactome</Source>
+                <Reference>Q9BYM8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYM8</Reference>
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+    <Disorder id="22707">
+      <OrphaCode>397933</OrphaCode>
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+      <Name lang="en">Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">IQ motif and Sec7 domain ArfGEF 2</Name>
+            <Symbol>IQSEC2</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">IQ-ArfGEF</Synonym>
+              <Synonym lang="en">KIAA0522</Synonym>
+              <Synonym lang="en">brefeldin A resistant Arf-guanine nucleotide exchange factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58456">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124313</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IQSEC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29059</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300522</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JU85</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>397927</OrphaCode>
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+      <Name lang="en">Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">T-box transcription factor T</Name>
+            <Symbol>TBXT</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164458</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>T</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11515</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601397</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15178</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="22704">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397922</ExpertLink>
+      <Name lang="en">Ferro-cerebro-cutaneous syndrome</Name>
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+          <SourceOfValidation>24259288[PMID]</SourceOfValidation>
+          <Gene id="19197">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class A</Name>
+            <Symbol>PIGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GPI3</Synonym>
+              <Synonym lang="en">paroxysmal nocturnal hemoglobinuria</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165195</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PIGA</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Severe combined immunodeficiency due to IKK2 deficiency</Name>
+      <DisorderType id="21394">
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+          <SourceOfValidation>24369075[PMID]</SourceOfValidation>
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+            <Name lang="en">inhibitor of nuclear factor kappa B kinase subunit beta</Name>
+            <Symbol>IKBKB</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">IKK-beta</Synonym>
+              <Synonym lang="en">IKK2</Synonym>
+              <Synonym lang="en">IKKB</Synonym>
+              <Synonym lang="en">NFKBIKB</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104365</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>IKBKB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5960</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2039</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603258</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14920</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14920</Reference>
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+                <GeneLocus>8p11.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>397755</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397755</ExpertLink>
+      <Name lang="en">Periodic paralysis with transient compartment-like syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24240197[PMID]</SourceOfValidation>
+          <Gene id="15394">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 S</Name>
+            <Symbol>CACNA1S</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Cav1.1</Synonym>
+              <Synonym lang="en">hypoPP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56988">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081248</Reference>
+              </ExternalReference>
+              <ExternalReference id="26313">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1S</Reference>
+              </ExternalReference>
+              <ExternalReference id="26311">
+                <Source>HGNC</Source>
+                <Reference>1397</Reference>
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+              <ExternalReference id="82802">
+                <Source>IUPHAR</Source>
+                <Reference>528</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114208</Reference>
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+              <ExternalReference id="56989">
+                <Source>Reactome</Source>
+                <Reference>Q13698</Reference>
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+              <ExternalReference id="32362">
+                <Source>SwissProt</Source>
+                <Reference>Q13698</Reference>
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+            <LocusList count="1">
+              <Locus id="26371">
+                <GeneLocus>1q32.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22701">
+      <OrphaCode>397758</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397758</ExpertLink>
+      <Name lang="en">Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24026677[PMID]</SourceOfValidation>
+          <Gene id="16276">
+            <Name lang="en">integral membrane protein 2B</Name>
+            <Symbol>ITM2B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BRI</Synonym>
+              <Synonym lang="en">BRI2</Synonym>
+              <Synonym lang="en">BRICD2B</Synonym>
+              <Synonym lang="en">BRICHOS domain containing 2B</Synonym>
+              <Synonym lang="en">E25B</Synonym>
+              <Synonym lang="en">E3-16</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33341">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y287</Reference>
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+              <ExternalReference id="59786">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136156</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ITM2B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6174</Reference>
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+                <Source>OMIM</Source>
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+                <GeneLocus>13q14.2</GeneLocus>
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+      <OrphaCode>397744</OrphaCode>
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+      <Name lang="en">Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21480433[PMID]</SourceOfValidation>
+          <Gene id="16497">
+            <Name lang="en">myosin heavy chain 14</Name>
+            <Symbol>MYH14</Symbol>
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+              <Synonym lang="en">FLJ13881</Synonym>
+              <Synonym lang="en">KIAA2034</Synonym>
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+              <Synonym lang="en">MYH17</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59577">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105357</Reference>
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+              <ExternalReference id="31574">
+                <Source>Genatlas</Source>
+                <Reference>MYH14</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23212</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608568</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z406</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7Z406</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="22699">
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+      <Name lang="en">Periodic paralysis with later-onset distal motor neuropathy</Name>
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+          <SourceOfValidation>24153443[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded ATP synthase membrane subunit 6</Name>
+            <Symbol>MT-ATP6</Symbol>
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+              <Synonym lang="en">ATP6</Synonym>
+              <Synonym lang="en">ATPase-6</Synonym>
+              <Synonym lang="en">Su6m</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56908">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198899</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>24153443[PMID]</SourceOfValidation>
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+            <Name lang="en">Coenzyme A synthase</Name>
+            <Symbol>COASY</Symbol>
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+              <Synonym lang="en">bifunctional Coenzyme A synthase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000166986</Reference>
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+                <Reference>KIAA0586</Reference>
+              </ExternalReference>
+              <ExternalReference id="96103">
+                <Source>HGNC</Source>
+                <Reference>19960</Reference>
+              </ExternalReference>
+              <ExternalReference id="96104">
+                <Source>OMIM</Source>
+                <Reference>610178</Reference>
+              </ExternalReference>
+              <ExternalReference id="96106">
+                <Source>SwissProt</Source>
+                <Reference>Q9BVV6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15949">
+                <GeneLocus>14q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="22692">
+      <OrphaCode>397692</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397692</ExpertLink>
+      <Name lang="en">Hereditary isolated aplastic anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24085763[PMID]</SourceOfValidation>
+          <Gene id="15617">
+            <Name lang="en">thrombopoietin</Name>
+            <Symbol>THPO</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">MPL ligand</Synonym>
+              <Synonym lang="en">MPLLG</Synonym>
+              <Synonym lang="en">TPO</Synonym>
+              <Synonym lang="en">c-mpl ligand</Synonym>
+              <Synonym lang="en">megakaryocyte colony-stimulating factor</Synonym>
+              <Synonym lang="en">megakaryocyte growth and development factor</Synonym>
+              <Synonym lang="en">megakaryocyte stimulating factor</Synonym>
+              <Synonym lang="en">myeloproliferative leukemia virus oncogene ligand</Synonym>
+              <Synonym lang="en">prepro-thrombopoietin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090534</Reference>
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+              <ExternalReference id="27389">
+                <Source>Genatlas</Source>
+                <Reference>THPO</Reference>
+              </ExternalReference>
+              <ExternalReference id="27387">
+                <Source>HGNC</Source>
+                <Reference>11795</Reference>
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+              <ExternalReference id="27386">
+                <Source>OMIM</Source>
+                <Reference>600044</Reference>
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+              <ExternalReference id="59242">
+                <Source>Reactome</Source>
+                <Reference>P40225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40225</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22180433[PMID]</SourceOfValidation>
+          <Gene id="16460">
+            <Name lang="en">MPL proto-oncogene, thrombopoietin receptor</Name>
+            <Symbol>MPL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD110</Synonym>
+              <Synonym lang="en">THPOR</Synonym>
+              <Synonym lang="en">TPOR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58386">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117400</Reference>
+              </ExternalReference>
+              <ExternalReference id="31406">
+                <Source>Genatlas</Source>
+                <Reference>MPL</Reference>
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+              <ExternalReference id="31404">
+                <Source>HGNC</Source>
+                <Reference>7217</Reference>
+              </ExternalReference>
+              <ExternalReference id="83001">
+                <Source>IUPHAR</Source>
+                <Reference>1722</Reference>
+              </ExternalReference>
+              <ExternalReference id="31403">
+                <Source>OMIM</Source>
+                <Reference>159530</Reference>
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+              <ExternalReference id="58387">
+                <Source>Reactome</Source>
+                <Reference>P40238</Reference>
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+              <ExternalReference id="33525">
+                <Source>SwissProt</Source>
+                <Reference>P40238</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25205116[PMID]</SourceOfValidation>
+          <Gene id="23097">
+            <Name lang="en">ACD shelterin complex subunit and telomerase recruitment factor</Name>
+            <Symbol>ACD</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">POT1 and TIN2 organizing protein</Synonym>
+              <Synonym lang="en">Pip1</Synonym>
+              <Synonym lang="en">Ptop</Synonym>
+              <Synonym lang="en">TIN2 interacting protein 1</Synonym>
+              <Synonym lang="en">Tint1</Synonym>
+              <Synonym lang="en">Tpp1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95082">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102977</Reference>
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+              <ExternalReference id="95080">
+                <Source>Genatlas</Source>
+                <Reference>ACD</Reference>
+              </ExternalReference>
+              <ExternalReference id="95078">
+                <Source>HGNC</Source>
+                <Reference>25070</Reference>
+              </ExternalReference>
+              <ExternalReference id="95079">
+                <Source>OMIM</Source>
+                <Reference>609377</Reference>
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+              <ExternalReference id="97010">
+                <Source>Reactome</Source>
+                <Reference>Q96AP0</Reference>
+              </ExternalReference>
+              <ExternalReference id="95081">
+                <Source>SwissProt</Source>
+                <Reference>Q96AP0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>397623</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397623</ExpertLink>
+      <Name lang="en">Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24290375[PMID]</SourceOfValidation>
+          <Gene id="22808">
+            <Name lang="en">goosecoid homeobox</Name>
+            <Symbol>GSC</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>138890</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P56915</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133937</Reference>
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+              <ExternalReference id="89523">
+                <Source>Genatlas</Source>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="22691">
+      <OrphaCode>397685</OrphaCode>
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+      <Name lang="en">Familial hyperprolactinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>24195502[PMID]</SourceOfValidation>
+          <Gene id="22809">
+            <Name lang="en">prolactin receptor</Name>
+            <Symbol>PRLR</Symbol>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113494</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Obesity due to CEP19 deficiency</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174007</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome</Name>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Activated PI3K-delta syndrome</Name>
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+            <Name lang="en">phosphatase and tensin homolog</Name>
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+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Reference>ENSG00000145675</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>24136356[PMID]</SourceOfValidation>
+          <Gene id="22804">
+            <Name lang="en">phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta</Name>
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+              <Synonym lang="en">p110D</Synonym>
+              <Synonym lang="en">phosphatidylinositol 3-kinase, catalytic, delta polypeptide</Synonym>
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+                <Reference>O00329</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00329</Reference>
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+              <ExternalReference id="89592">
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+                <Reference>ENSG00000171608</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PIK3CD</Reference>
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+                <Reference>8977</Reference>
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+                <Reference>2155</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397593</ExpertLink>
+      <Name lang="en">Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23814038[PMID]</SourceOfValidation>
+          <Gene id="22801">
+            <Name lang="en">LYR motif containing 4</Name>
+            <Symbol>LYRM4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CGI-203</Synonym>
+              <Synonym lang="en">ISD11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000214113</Reference>
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+              <ExternalReference id="89474">
+                <Source>Genatlas</Source>
+                <Reference>LYRM4</Reference>
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+              <ExternalReference id="89472">
+                <Source>HGNC</Source>
+                <Reference>21365</Reference>
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+              <ExternalReference id="89473">
+                <Source>OMIM</Source>
+                <Reference>613311</Reference>
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+              <ExternalReference id="89586">
+                <Source>Reactome</Source>
+                <Reference>Q9HD34</Reference>
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+                <Reference>Q9HD34</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24498631[PMID]</SourceOfValidation>
+          <Gene id="22802">
+            <Name lang="en">NFS1 cysteine desulfurase</Name>
+            <Symbol>NFS1</Symbol>
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+              <Synonym lang="en">NifS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="89589">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244005</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NFS1</Reference>
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+              <ExternalReference id="89477">
+                <Source>HGNC</Source>
+                <Reference>15910</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603485</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y697</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y697</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22687">
+      <OrphaCode>397612</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=397612</ExpertLink>
+      <Name lang="en">Macrocephaly-developmental delay syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24239382[PMID]</SourceOfValidation>
+          <Gene id="22805">
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+              <Synonym lang="en">2E4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="89594">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118162</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6404</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615620</Reference>
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+              <ExternalReference id="89503">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y664</Reference>
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+      <Name lang="en">PrP systemic amyloidosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24224623[PMID]</SourceOfValidation>
+          <Gene id="15142">
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+            <Symbol>PRNP</Symbol>
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+              <Synonym lang="en">AltPrP</Synonym>
+              <Synonym lang="en">CD230</Synonym>
+              <Synonym lang="en">Creutzfeldt-Jakob disease</Synonym>
+              <Synonym lang="en">Gerstmann-Strausler-Scheinker syndrome</Synonym>
+              <Synonym lang="en">PRP</Synonym>
+              <Synonym lang="en">fatal familial insomnia</Synonym>
+              <Synonym lang="en">p27-30</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000171867</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29048736[PMID]</SourceOfValidation>
+          <Gene id="27159">
+            <Name lang="en">testis expressed 15, meiosis and synapsis associated</Name>
+            <Symbol>TEX15</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT42</Synonym>
+              <Synonym lang="en">cancer/testis antigen 42</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="158652">
+                <Source>HGNC</Source>
+                <Reference>11738</Reference>
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+              <ExternalReference id="158653">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133863</Reference>
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+              <ExternalReference id="158654">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXT5</Reference>
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+              <ExternalReference id="158655">
+                <Source>OMIM</Source>
+                <Reference>605795</Reference>
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+              <ExternalReference id="158657">
+                <Source>Reactome</Source>
+                <Reference>Q9BXT5</Reference>
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+              <ExternalReference id="158656">
+                <Source>Genatlas</Source>
+                <Reference>TEX15</Reference>
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+            <LocusList count="1">
+              <Locus id="48857">
+                <GeneLocus>8p12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34347949[PMID]</SourceOfValidation>
+          <Gene id="30687">
+            <Name lang="en">PARN like ribonuclease domain containing exonuclease 1</Name>
+            <Symbol>PNLDC1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="200361">
+                <Source>HGNC</Source>
+                <Reference>21185</Reference>
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+              <ExternalReference id="201637">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146453</Reference>
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+              <ExternalReference id="201638">
+                <Source>OMIM</Source>
+                <Reference>619529</Reference>
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+              <ExternalReference id="201639">
+                <Source>SwissProt</Source>
+                <Reference>Q8NA58</Reference>
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+            <LocusList count="1">
+              <Locus id="82165">
+                <GeneLocus>6q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22709980[PMID]</SourceOfValidation>
+          <Gene id="15441">
+            <Name lang="en">CF transmembrane conductance regulator</Name>
+            <Symbol>CFTR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABC35</Synonym>
+              <Synonym lang="en">ATP-binding cassette sub-family C, member 7</Synonym>
+              <Synonym lang="en">CFTR/MRP</Synonym>
+              <Synonym lang="en">MRP7</Synonym>
+              <Synonym lang="en">TNR-CFTR</Synonym>
+              <Synonym lang="en">dJ760C5.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56733">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000001626</Reference>
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+              <ExternalReference id="26534">
+                <Source>Genatlas</Source>
+                <Reference>CFTR</Reference>
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+              <ExternalReference id="26532">
+                <Source>HGNC</Source>
+                <Reference>1884</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>707</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602421</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13569</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13569</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20887963[PMID]</SourceOfValidation>
+          <Gene id="17744">
+            <Name lang="en">nuclear receptor subfamily 5 group A member 1</Name>
+            <Symbol>NR5A1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AD4BP</Synonym>
+              <Synonym lang="en">ELP</Synonym>
+              <Synonym lang="en">FTZ1</Synonym>
+              <Synonym lang="en">SF-1</Synonym>
+              <Synonym lang="en">SF1</Synonym>
+              <Synonym lang="en">hSF-1</Synonym>
+              <Synonym lang="en">steroidogenic factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136931</Reference>
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+              <ExternalReference id="39474">
+                <Source>Genatlas</Source>
+                <Reference>NR5A1</Reference>
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+              <ExternalReference id="39475">
+                <Source>HGNC</Source>
+                <Reference>7983</Reference>
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+              <ExternalReference id="83118">
+                <Source>IUPHAR</Source>
+                <Reference>632</Reference>
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+                <Source>OMIM</Source>
+                <Reference>184757</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13285</Reference>
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+              <ExternalReference id="39477">
+                <Source>SwissProt</Source>
+                <Reference>Q13285</Reference>
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+                <GeneLocus>9q33.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24431330[PMID]</SourceOfValidation>
+          <Gene id="22821">
+            <Name lang="en">TATA-box binding protein associated factor 4b</Name>
+            <Symbol>TAF4B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TAFII105</Synonym>
+              <Synonym lang="en">TATA box binding protein (TBP)-associated factor 4B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91560">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TAF4B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11538</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601689</Reference>
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+              <ExternalReference id="91559">
+                <Source>Reactome</Source>
+                <Reference>Q92750</Reference>
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+                <Source>SwissProt</Source>
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+                <GeneLocus>18q11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24431330[PMID]</SourceOfValidation>
+          <Gene id="22822">
+            <Name lang="en">zinc finger MYND-type containing 15</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp434N127</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91561">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141497</Reference>
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+              <ExternalReference id="89740">
+                <Source>Genatlas</Source>
+                <Reference>ZMYND15</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20997</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H091</Reference>
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+              <Locus id="21795">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="23259">
+            <Name lang="en">testis expressed 11</Name>
+            <Symbol>TEX11</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MZIP4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143300">
+                <Source>Reactome</Source>
+                <Reference>Q8IYF3</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300311</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IYF3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120498</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">synaptonemal complex protein 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">spermatogenesis and oogenesis specific basic helix-loop-helix 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165643</Reference>
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+            <Name lang="en">X-ray repair cross complementing 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Reference>ENSG00000171772</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="30562">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8N1H7</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17047026[PMID]</SourceOfValidation>
+          <Gene id="24059">
+            <Name lang="en">kelch like family member 10</Name>
+            <Symbol>KLHL10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ32662</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000161594</Reference>
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+              <ExternalReference id="125607">
+                <Source>SwissProt</Source>
+                <Reference>Q6JEL2</Reference>
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+              <ExternalReference id="125604">
+                <Source>HGNC</Source>
+                <Reference>18829</Reference>
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+              <ExternalReference id="125605">
+                <Source>OMIM</Source>
+                <Reference>608778</Reference>
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+              <ExternalReference id="125606">
+                <Source>Genatlas</Source>
+                <Reference>KLHL10</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34348960[PMID]</SourceOfValidation>
+          <Gene id="31604">
+            <Name lang="en">coiled-coil domain containing 34</Name>
+            <Symbol>CCDC34</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="22745">
+      <OrphaCode>399058</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=399058</ExpertLink>
+      <Name lang="en">Alpha-B crystallin-related late-onset myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20171888[PMID]</SourceOfValidation>
+          <Gene id="15805">
+            <Name lang="en">crystallin alpha B</Name>
+            <Symbol>CRYAB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HSPB5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98054">
+                <Source>Reactome</Source>
+                <Reference>P02511</Reference>
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+              <ExternalReference id="32816">
+                <Source>SwissProt</Source>
+                <Reference>P02511</Reference>
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+              <ExternalReference id="59854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109846</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2389</Reference>
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+                <Source>OMIM</Source>
+                <Reference>123590</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>399081</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=399081</ExpertLink>
+      <Name lang="en">KLHL9-related early-onset distal myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20554658[PMID]</SourceOfValidation>
+          <Gene id="22983">
+            <Name lang="en">kelch like family member 9</Name>
+            <Symbol>KLHL9</Symbol>
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+              <Synonym lang="en">FLJ13568</Synonym>
+              <Synonym lang="en">KIAA1354</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198642</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KLHL9</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="91971">
+                <Source>Reactome</Source>
+                <Reference>Q9P2J3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9P2J3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=399103</ExpertLink>
+      <Name lang="en">Distal nebulin myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17525139[PMID]</SourceOfValidation>
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+            <Name lang="en">nebulin</Name>
+            <Symbol>NEB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEB177D</Synonym>
+              <Synonym lang="en">nemaline myopathy type 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P20929</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183091</Reference>
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+      <Name lang="en">Distal anoctaminopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>ENSG00000171714</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Focal facial dermal dysplasia type IV</Name>
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+            <Name lang="en">cytochrome P450 family 26 subfamily C member 1</Name>
+            <Symbol>CYP26C1</Symbol>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">SIM1-related Prader-Willi-like syndrome</Name>
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+      <Name lang="en">Hereditary cryohydrocytosis with normal stomatin</Name>
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+              <Synonym lang="en">Froese blood group</Synonym>
+              <Synonym lang="en">RTA1A</Synonym>
+              <Synonym lang="en">SW</Synonym>
+              <Synonym lang="en">Swann blood group</Synonym>
+              <Synonym lang="en">WR</Synonym>
+              <Synonym lang="en">Wright blood group</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000004939</Reference>
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+            <LocusList count="1">
+              <Locus id="66717">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23306">
+      <OrphaCode>435628</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=435628</ExpertLink>
+      <Name lang="en">Keppen-Lubinsky syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25620207[PMID]</SourceOfValidation>
+          <Gene id="23487">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 6</Name>
+            <Symbol>KCNJ6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BIR1</Synonym>
+              <Synonym lang="en">G protein-activated inward rectifier potassium channel 2</Synonym>
+              <Synonym lang="en">GIRK2</Synonym>
+              <Synonym lang="en">KATP2</Synonym>
+              <Synonym lang="en">Kir3.2</Synonym>
+              <Synonym lang="en">hiGIRK2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="97440">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157542</Reference>
+              </ExternalReference>
+              <ExternalReference id="97437">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ6</Reference>
+              </ExternalReference>
+              <ExternalReference id="97435">
+                <Source>HGNC</Source>
+                <Reference>6267</Reference>
+              </ExternalReference>
+              <ExternalReference id="97441">
+                <Source>IUPHAR</Source>
+                <Reference>435</Reference>
+              </ExternalReference>
+              <ExternalReference id="97436">
+                <Source>OMIM</Source>
+                <Reference>600877</Reference>
+              </ExternalReference>
+              <ExternalReference id="97439">
+                <Source>Reactome</Source>
+                <Reference>P48051</Reference>
+              </ExternalReference>
+              <ExternalReference id="97438">
+                <Source>SwissProt</Source>
+                <Reference>P48051</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.13</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23310">
+      <OrphaCode>435660</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=435660</ExpertLink>
+      <Name lang="en">LIPE-related familial partial lipodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25475467[PMID]</SourceOfValidation>
+          <Gene id="23483">
+            <Name lang="en">lipase E, hormone sensitive type</Name>
+            <Symbol>LIPE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HSL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="97414">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079435</Reference>
+              </ExternalReference>
+              <ExternalReference id="97411">
+                <Source>Genatlas</Source>
+                <Reference>LIPE</Reference>
+              </ExternalReference>
+              <ExternalReference id="97409">
+                <Source>HGNC</Source>
+                <Reference>6621</Reference>
+              </ExternalReference>
+              <ExternalReference id="97415">
+                <Source>IUPHAR</Source>
+                <Reference>2593</Reference>
+              </ExternalReference>
+              <ExternalReference id="97410">
+                <Source>OMIM</Source>
+                <Reference>151750</Reference>
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+              <ExternalReference id="97413">
+                <Source>Reactome</Source>
+                <Reference>Q05469</Reference>
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+              <ExternalReference id="97412">
+                <Source>SwissProt</Source>
+                <Reference>Q05469</Reference>
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+                <GeneLocus>19q13.2</GeneLocus>
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+    <Disorder id="23309">
+      <OrphaCode>435651</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=435651</ExpertLink>
+      <Name lang="en">CIDEC-related familial partial lipodystrophy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20049731[PMID]</SourceOfValidation>
+          <Gene id="23480">
+            <Name lang="en">cell death inducing DFFA like effector c</Name>
+            <Symbol>CIDEC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CIDE-3</Synonym>
+              <Synonym lang="en">FLJ20871</Synonym>
+              <Synonym lang="en">Fsp27</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97400">
+                <Source>Genatlas</Source>
+                <Reference>CIDEC</Reference>
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+              <ExternalReference id="97398">
+                <Source>HGNC</Source>
+                <Reference>24229</Reference>
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+              <ExternalReference id="97399">
+                <Source>OMIM</Source>
+                <Reference>612120</Reference>
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+              <ExternalReference id="97401">
+                <Source>SwissProt</Source>
+                <Reference>Q96AQ7</Reference>
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+              <ExternalReference id="126447">
+                <Source>Reactome</Source>
+                <Reference>Q96AQ7</Reference>
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+              <ExternalReference id="97402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187288</Reference>
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+                <GeneLocus>3p25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>435804</OrphaCode>
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+      <Name lang="en">Short stature-advanced bone age-early-onset osteoarthritis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24762113[PMID]</SourceOfValidation>
+          <Gene id="15068">
+            <Name lang="en">aggrecan</Name>
+            <Symbol>ACAN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CSPGCP</Synonym>
+              <Synonym lang="en">aggrecan proteoglycan</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59677">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157766</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACAN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>319</Reference>
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+                <Source>OMIM</Source>
+                <Reference>155760</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P16112</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16112</Reference>
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+      <Name lang="en">Lethal neonatal spasticity-epileptic encephalopathy syndrome</Name>
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+            <Symbol>BRAT1</Symbol>
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+                <Reference>ENSG00000106009</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C7orf27</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q6PJG6</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</Name>
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+            <Name lang="en">SIX homeobox 6</Name>
+            <Symbol>SIX6</Symbol>
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+                <Source>Genatlas</Source>
+                <Reference>SIX6</Reference>
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+                <Reference>10892</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>609168</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q5FBB7</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129810</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>25088</Reference>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23320">
+      <OrphaCode>435934</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=435934</ExpertLink>
+      <Name lang="en">COG2-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24784932[PMID]</SourceOfValidation>
+          <Gene id="23509">
+            <Name lang="en">component of oligomeric golgi complex 2</Name>
+            <Symbol>COG2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97657">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135775</Reference>
+              </ExternalReference>
+              <ExternalReference id="97655">
+                <Source>Genatlas</Source>
+                <Reference>COG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="97653">
+                <Source>HGNC</Source>
+                <Reference>6546</Reference>
+              </ExternalReference>
+              <ExternalReference id="97654">
+                <Source>OMIM</Source>
+                <Reference>606974</Reference>
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+              <ExternalReference id="98112">
+                <Source>Reactome</Source>
+                <Reference>Q14746</Reference>
+              </ExternalReference>
+              <ExternalReference id="97656">
+                <Source>SwissProt</Source>
+                <Reference>Q14746</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17835">
+                <GeneLocus>1q42.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="23321">
+      <OrphaCode>435938</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=435938</ExpertLink>
+      <Name lang="en">X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25316788[PMID]</SourceOfValidation>
+          <Gene id="15228">
+            <Name lang="en">ribosomal protein L10</Name>
+            <Symbol>RPL10</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DXS648</Synonym>
+              <Synonym lang="en">DXS648E</Synonym>
+              <Synonym lang="en">FLJ23544</Synonym>
+              <Synonym lang="en">L10</Synonym>
+              <Synonym lang="en">NOV</Synonym>
+              <Synonym lang="en">QM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57165">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147403</Reference>
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+              <ExternalReference id="37337">
+                <Source>Genatlas</Source>
+                <Reference>RPL10</Reference>
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+              <ExternalReference id="25514">
+                <Source>HGNC</Source>
+                <Reference>10298</Reference>
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+                <Source>OMIM</Source>
+                <Reference>312173</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27635</Reference>
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+              <ExternalReference id="33786">
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+                <Reference>P27635</Reference>
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+      <OrphaCode>436144</OrphaCode>
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+      <Name lang="en">Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25057881[PMID]</SourceOfValidation>
+          <Gene id="15425">
+            <Name lang="en">cyclin dependent kinase inhibitor 1C</Name>
+            <Symbol>CDKN1C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIP2</Synonym>
+              <Synonym lang="en">P57</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60393">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129757</Reference>
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+              <ExternalReference id="26457">
+                <Source>Genatlas</Source>
+                <Reference>CDKN1C</Reference>
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+              <ExternalReference id="26455">
+                <Source>HGNC</Source>
+                <Reference>1786</Reference>
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+              <ExternalReference id="26454">
+                <Source>OMIM</Source>
+                <Reference>600856</Reference>
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+              <ExternalReference id="32393">
+                <Source>SwissProt</Source>
+                <Reference>P49918</Reference>
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+              <ExternalReference id="135046">
+                <Source>Reactome</Source>
+                <Reference>P49918</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+    <Disorder id="23324">
+      <OrphaCode>435998</OrphaCode>
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+      <Name lang="en">Autosomal recessive intermediate Charcot-Marie-Tooth disease type D</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25152455[PMID]</SourceOfValidation>
+          <Gene id="23497">
+            <Name lang="en">cytochrome c oxidase subunit 6A1</Name>
+            <Symbol>COX6A1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111775</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COX6A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2277</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602072</Reference>
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+              <ExternalReference id="97554">
+                <Source>Reactome</Source>
+                <Reference>P12074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P12074</Reference>
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+              <Locus id="24225">
+                <GeneLocus>12q24.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="23329">
+      <OrphaCode>436159</OrphaCode>
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+      <Name lang="en">Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25213377[PMID]</SourceOfValidation>
+          <Gene id="15818">
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+            <Symbol>CTLA4</Symbol>
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+              <Synonym lang="en">CD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+              <ExternalReference id="56843">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163599</Reference>
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+              <ExternalReference id="37414">
+                <Source>Genatlas</Source>
+                <Reference>CTLA4</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Intellectual disability-expressive aphasia-facial dysmorphism syndrome</Name>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+    <Disorder id="23331">
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+      <Name lang="en">Thrombomodulin-related bleeding disorder</Name>
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+            <Name lang="en">thrombomodulin</Name>
+            <Symbol>THBD</Symbol>
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+              <Synonym lang="en">fetomodulin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178726</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</Name>
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+              <Synonym lang="en">NOD-like receptor C4</Synonym>
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+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Microcephalic primordial dwarfism-insulin resistance syndrome</Name>
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+            <Name lang="en">NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase</Name>
+            <Symbol>NSMCE2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ32440</Synonym>
+              <Synonym lang="en">MMS21</Synonym>
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+              <Synonym lang="en">ZMIZ7</Synonym>
+              <Synonym lang="en">zinc finger, MIZ-type containing 7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156831</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>26513</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25728776[PMID]</SourceOfValidation>
+          <Gene id="23795">
+            <Name lang="en">X-ray repair cross complementing 4</Name>
+            <Symbol>XRCC4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DNA repair protein XRCC4</Synonym>
+              <Synonym lang="en">X-ray repair, complementing defective, repair in Chinese hamster</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>12831</Reference>
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+              <ExternalReference id="103391">
+                <Source>OMIM</Source>
+                <Reference>194363</Reference>
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+              <ExternalReference id="103392">
+                <Source>Genatlas</Source>
+                <Reference>XRCC4</Reference>
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+              <ExternalReference id="103393">
+                <Source>SwissProt</Source>
+                <Reference>Q13426</Reference>
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+              <ExternalReference id="103394">
+                <Source>Reactome</Source>
+                <Reference>Q13426</Reference>
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+              <ExternalReference id="103395">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152422</Reference>
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+      <Name lang="en">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">isoleucyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>IARS2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000067704</Reference>
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+              <ExternalReference id="97602">
+                <Source>Genatlas</Source>
+                <Reference>IARS2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NSE4</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">retinol dehydrogenase 11</Name>
+            <Symbol>RDH11</Symbol>
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+              <Synonym lang="en">ARSDR1</Synonym>
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+              <Synonym lang="en">SDR7C1</Synonym>
+              <Synonym lang="en">androgen-regulated short-chain dehydrogenase/reductase 1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 7C, member 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97578">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TC12</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072042</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</Name>
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+      <Name lang="en">Fatty acyl-CoA reductase 1 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>FAR1</Symbol>
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+              <Synonym lang="en">short chain dehydrogenase/reductase family 10E, member 1</Synonym>
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+      <Name lang="en">STAT3-related early-onset multisystem autoimmune disease</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132646</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000165059</Reference>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30171045[PMID]</SourceOfValidation>
+          <Gene id="16150">
+            <Name lang="en">glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase</Name>
+            <Symbol>GNE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Uae1</Synonym>
+              <Synonym lang="en">bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000159921</Reference>
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+                <Reference>GNE</Reference>
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+                <Reference>23657</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603824</Reference>
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+              <ExternalReference id="87978">
+                <Source>Reactome</Source>
+                <Reference>Q9Y223</Reference>
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+                <Reference>Q9Y223</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+      <Name lang="en">Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">multiple EGF like domains 10</Name>
+            <Symbol>MEGF10</Symbol>
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+              <Synonym lang="en">KIAA1780</Synonym>
+              <Synonym lang="en">SR-F3</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000145794</Reference>
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+                <Reference>MEGF10</Reference>
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+      <Name lang="en">KCNQ2-related epileptic encephalopathy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>23621294[PMID]_20437616[PMID]</SourceOfValidation>
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+            <Name lang="en">potassium voltage-gated channel subfamily Q member 2</Name>
+            <Symbol>KCNQ2</Symbol>
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+              <Synonym lang="en">BFNC</Synonym>
+              <Synonym lang="en">ENB1</Synonym>
+              <Synonym lang="en">HNSPC</Synonym>
+              <Synonym lang="en">KCNA11</Synonym>
+              <Synonym lang="en">Kv7.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075043</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KCNQ2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6296</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>602235</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43526</Reference>
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+            <Symbol>PDE4D</Symbol>
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+              <Synonym lang="en">Phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
+              <Synonym lang="en">cAMP-specific 3',5'-cyclic phosphodiesterase 4D</Synonym>
+              <Synonym lang="en">phosphodiesterase E3 dunce homolog (Drosophila)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113448</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q9UGJ0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106617</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23412">
+      <OrphaCode>440713</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=440713</ExpertLink>
+      <Name lang="en">Isolated sedoheptulokinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25647543[PMID]</SourceOfValidation>
+          <Gene id="23512">
+            <Name lang="en">sedoheptulokinase</Name>
+            <Symbol>SHPK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SHK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143832">
+                <Source>Reactome</Source>
+                <Reference>Q9UHJ6</Reference>
+              </ExternalReference>
+              <ExternalReference id="97677">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197417</Reference>
+              </ExternalReference>
+              <ExternalReference id="97675">
+                <Source>Genatlas</Source>
+                <Reference>SHPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="97673">
+                <Source>HGNC</Source>
+                <Reference>1492</Reference>
+              </ExternalReference>
+              <ExternalReference id="97674">
+                <Source>OMIM</Source>
+                <Reference>605060</Reference>
+              </ExternalReference>
+              <ExternalReference id="97676">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHJ6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39127">
+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23415">
+      <OrphaCode>440731</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=440731</ExpertLink>
+      <Name lang="en">L-ferritin deficiency</Name>
+      <DisorderType id="21408">
+        <Name lang="en">Biological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23940258[PMID]</SourceOfValidation>
+          <Gene id="16080">
+            <Name lang="en">ferritin light chain</Name>
+            <Symbol>FTL</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">L apoferritin</Synonym>
+              <Synonym lang="en">MGC71996</Synonym>
+              <Synonym lang="en">NBIA3</Synonym>
+              <Synonym lang="en">ferritin L subunit</Synonym>
+              <Synonym lang="en">ferritin L-chain</Synonym>
+              <Synonym lang="en">ferritin light polypeptide-like 3</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087086</Reference>
+              </ExternalReference>
+              <ExternalReference id="29610">
+                <Source>Genatlas</Source>
+                <Reference>FTL</Reference>
+              </ExternalReference>
+              <ExternalReference id="29608">
+                <Source>HGNC</Source>
+                <Reference>3999</Reference>
+              </ExternalReference>
+              <ExternalReference id="29607">
+                <Source>OMIM</Source>
+                <Reference>134790</Reference>
+              </ExternalReference>
+              <ExternalReference id="58057">
+                <Source>Reactome</Source>
+                <Reference>P02792</Reference>
+              </ExternalReference>
+              <ExternalReference id="33095">
+                <Source>SwissProt</Source>
+                <Reference>P02792</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8603">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16080">
+            <Name lang="en">ferritin light chain</Name>
+            <Symbol>FTL</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">L apoferritin</Synonym>
+              <Synonym lang="en">MGC71996</Synonym>
+              <Synonym lang="en">NBIA3</Synonym>
+              <Synonym lang="en">ferritin L subunit</Synonym>
+              <Synonym lang="en">ferritin L-chain</Synonym>
+              <Synonym lang="en">ferritin light polypeptide-like 3</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087086</Reference>
+              </ExternalReference>
+              <ExternalReference id="29610">
+                <Source>Genatlas</Source>
+                <Reference>FTL</Reference>
+              </ExternalReference>
+              <ExternalReference id="29608">
+                <Source>HGNC</Source>
+                <Reference>3999</Reference>
+              </ExternalReference>
+              <ExternalReference id="29607">
+                <Source>OMIM</Source>
+                <Reference>134790</Reference>
+              </ExternalReference>
+              <ExternalReference id="58057">
+                <Source>Reactome</Source>
+                <Reference>P02792</Reference>
+              </ExternalReference>
+              <ExternalReference id="33095">
+                <Source>SwissProt</Source>
+                <Reference>P02792</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8603">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23408">
+      <OrphaCode>440427</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=440427</ExpertLink>
+      <Name lang="en">Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24103465[PMID]_25913036[PMID]</SourceOfValidation>
+          <Gene id="22571">
+            <Name lang="en">methionyl-tRNA synthetase 1</Name>
+            <Symbol>MARS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2U</Synonym>
+              <Synonym lang="en">MetRS</Synonym>
+              <Synonym lang="en">SPG70</Synonym>
+              <Synonym lang="en">methionine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="84458">
+                <Source>HGNC</Source>
+                <Reference>6898</Reference>
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+              <ExternalReference id="84462">
+                <Source>OMIM</Source>
+                <Reference>156560</Reference>
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+              <ExternalReference id="84609">
+                <Source>Reactome</Source>
+                <Reference>P56192</Reference>
+              </ExternalReference>
+              <ExternalReference id="84461">
+                <Source>SwissProt</Source>
+                <Reference>P56192</Reference>
+              </ExternalReference>
+              <ExternalReference id="84610">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166986</Reference>
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+              <ExternalReference id="84460">
+                <Source>Genatlas</Source>
+                <Reference>MARS</Reference>
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+            <LocusList count="1">
+              <Locus id="12965">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="23409">
+      <OrphaCode>440437</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=440437</ExpertLink>
+      <Name lang="en">Familial colorectal cancer Type X</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21640116[PMID]</SourceOfValidation>
+          <Gene id="15372">
+            <Name lang="en">bone morphogenetic protein receptor type 1A</Name>
+            <Symbol>BMPR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ALK3</Synonym>
+              <Synonym lang="en">CD292</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="26201">
+                <Source>HGNC</Source>
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+              <ExternalReference id="82788">
+                <Source>IUPHAR</Source>
+                <Reference>1786</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601299</Reference>
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+              <ExternalReference id="57726">
+                <Source>Reactome</Source>
+                <Reference>P36894</Reference>
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+              <ExternalReference id="33929">
+                <Source>SwissProt</Source>
+                <Reference>P36894</Reference>
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+              <ExternalReference id="57725">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107779</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25307848[PMID]</SourceOfValidation>
+          <Gene id="17199">
+            <Name lang="en">semaphorin 4A</Name>
+            <Symbol>SEMA4A</Symbol>
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+              <Synonym lang="en">CORD10</Synonym>
+              <Synonym lang="en">FLJ12287</Synonym>
+              <Synonym lang="en">SemB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196189</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SEMA4A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10729</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607292</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H3S1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3S1</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24941021[PMID]</SourceOfValidation>
+          <Gene id="23077">
+            <Name lang="en">ribosomal protein S20</Name>
+            <Symbol>RPS20</Symbol>
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+              <Synonym lang="en">uS10</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="94970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008988</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RPS20</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10405</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <GeneLocus>8q12.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>440706</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=440706</ExpertLink>
+      <Name lang="en">Ribose-5-P isomerase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>14988808[PMID]_20499043[PMID]</SourceOfValidation>
+          <Gene id="23511">
+            <Name lang="en">ribose 5-phosphate isomerase A</Name>
+            <Symbol>RPIA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153574</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RPIA</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=441447</ExpertLink>
+      <Name lang="en">Early-onset posterior subcapsular cataract</Name>
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+          <Gene id="24014">
+            <Name lang="en">LEM domain nuclear envelope protein 2</Name>
+            <Symbol>LEMD2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LEM2</Synonym>
+              <Synonym lang="en">NET25</Synonym>
+              <Synonym lang="en">dJ482C21.1</Synonym>
+              <Synonym lang="en">lamina-associated polypeptide-emerin-MAN1 domain containing 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>21244</Reference>
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+                <Reference>LEMD2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NC56</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8NC56</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161904</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21245961[PMID]</SourceOfValidation>
+          <Gene id="15808">
+            <Name lang="en">crystallin beta B2</Name>
+            <Symbol>CRYBB2</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000244752</Reference>
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+                <Reference>CRYBB2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2398</Reference>
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+                <GeneLocus>22q11.23</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17701905[PMID]</SourceOfValidation>
+          <Gene id="16864">
+            <Name lang="en">charged multivesicular body protein 4B</Name>
+            <Symbol>CHMP4B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">SNF7-2</Synonym>
+              <Synonym lang="en">Shax1</Synonym>
+              <Synonym lang="en">VPS32B</Synonym>
+              <Synonym lang="en">dJ553F4.4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000101421</Reference>
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+              <ExternalReference id="35276">
+                <Source>Genatlas</Source>
+                <Reference>CHMP4B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16171</Reference>
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+                <Reference>610897</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24014202[PMID]</SourceOfValidation>
+          <Gene id="18658">
+            <Name lang="en">EPH receptor A2</Name>
+            <Symbol>EPHA2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">unc-45 myosin chaperone B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=441452</ExpertLink>
+      <Name lang="en">Early-onset lamellar cataract</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+              <ExternalReference id="46791">
+                <Source>SwissProt</Source>
+                <Reference>P22914</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11117">
+                <GeneLocus>3q27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23288985[PMID]</SourceOfValidation>
+          <Gene id="22043">
+            <Name lang="en">crystallin gamma B</Name>
+            <Symbol>CRYGB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83802">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182187</Reference>
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+              <ExternalReference id="79117">
+                <Source>Genatlas</Source>
+                <Reference>CRYGB</Reference>
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+              <ExternalReference id="79115">
+                <Source>HGNC</Source>
+                <Reference>2409</Reference>
+              </ExternalReference>
+              <ExternalReference id="79116">
+                <Source>OMIM</Source>
+                <Reference>123670</Reference>
+              </ExternalReference>
+              <ExternalReference id="79118">
+                <Source>SwissProt</Source>
+                <Reference>P07316</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23293">
+                <GeneLocus>2q33.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23434">
+      <OrphaCode>443057</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=443057</ExpertLink>
+      <Name lang="en">Sporadic porphyria cutanea tarda</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23741761[PMID]</SourceOfValidation>
+          <Gene id="16446">
+            <Name lang="en">homeostatic iron regulator</Name>
+            <Symbol>HFE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFE1</Synonym>
+              <Synonym lang="en">HLA-H</Synonym>
+              <Synonym lang="en">high Fe</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="48348">
+                <Source>OMIM</Source>
+                <Reference>613609</Reference>
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+              <ExternalReference id="33508">
+                <Source>SwissProt</Source>
+                <Reference>Q30201</Reference>
+              </ExternalReference>
+              <ExternalReference id="59415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010704</Reference>
+              </ExternalReference>
+              <ExternalReference id="34038">
+                <Source>Genatlas</Source>
+                <Reference>HFE</Reference>
+              </ExternalReference>
+              <ExternalReference id="31336">
+                <Source>HGNC</Source>
+                <Reference>4886</Reference>
+              </ExternalReference>
+              <ExternalReference id="143455">
+                <Source>Reactome</Source>
+                <Reference>Q30201</Reference>
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+                <GeneLocus>6p22.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23435">
+      <OrphaCode>443062</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=443062</ExpertLink>
+      <Name lang="en">Familial porphyria cutanea tarda</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23741761[PMID]</SourceOfValidation>
+          <Gene id="15698">
+            <Name lang="en">uroporphyrinogen decarboxylase</Name>
+            <Symbol>UROD</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="60039">
+                <Source>Reactome</Source>
+                <Reference>P06132</Reference>
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+              <ExternalReference id="32670">
+                <Source>SwissProt</Source>
+                <Reference>P06132</Reference>
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+              <ExternalReference id="60038">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126088</Reference>
+              </ExternalReference>
+              <ExternalReference id="27768">
+                <Source>Genatlas</Source>
+                <Reference>UROD</Reference>
+              </ExternalReference>
+              <ExternalReference id="27770">
+                <Source>HGNC</Source>
+                <Reference>12591</Reference>
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+              <ExternalReference id="46979">
+                <Source>OMIM</Source>
+                <Reference>613521</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23741761[PMID]</SourceOfValidation>
+          <Gene id="16446">
+            <Name lang="en">homeostatic iron regulator</Name>
+            <Symbol>HFE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFE1</Synonym>
+              <Synonym lang="en">HLA-H</Synonym>
+              <Synonym lang="en">high Fe</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="48348">
+                <Source>OMIM</Source>
+                <Reference>613609</Reference>
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+              <ExternalReference id="33508">
+                <Source>SwissProt</Source>
+                <Reference>Q30201</Reference>
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+              <ExternalReference id="59415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010704</Reference>
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+              <ExternalReference id="34038">
+                <Source>Genatlas</Source>
+                <Reference>HFE</Reference>
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+              <ExternalReference id="31336">
+                <Source>HGNC</Source>
+                <Reference>4886</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q30201</Reference>
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+                <GeneLocus>6p22.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23437">
+      <OrphaCode>443073</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=443073</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 2S</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25439726[PMID]</SourceOfValidation>
+          <Gene id="16248">
+            <Name lang="en">immunoglobulin mu DNA binding protein 2</Name>
+            <Symbol>IGHMBP2</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CATF1</Synonym>
+              <Synonym lang="en">CMT2S</Synonym>
+              <Synonym lang="en">HCSA</Synonym>
+              <Synonym lang="en">HMN6</Synonym>
+              <Synonym lang="en">SMARD1</Synonym>
+              <Synonym lang="en">SMUBP2</Synonym>
+              <Synonym lang="en">ZFAND7</Synonym>
+              <Synonym lang="en">cardiac transcription factor 1</Synonym>
+              <Synonym lang="en">zinc finger, AN1-type domain 7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59866">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132740</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IGHMBP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5542</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600502</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Non-specific early-onset epileptic encephalopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31031012[PMID]</SourceOfValidation>
+          <Gene id="28240">
+            <Name lang="en">actin like 6B</Name>
+            <Symbol>ACTL6B</Symbol>
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+              <Synonym lang="en">BAF53B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077080</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O94805</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O94805</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit gamma2</Name>
+            <Symbol>GABRG2</Symbol>
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+              <Synonym lang="en">GABA(A) receptor, gamma 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>31032849[PMID]</SourceOfValidation>
+          <Gene id="28459">
+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit alpha2</Name>
+            <Symbol>GABRA2</Symbol>
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+              <Synonym lang="en">GABA(A) receptor, alpha 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170027</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>P61981</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42057">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27545674[PMID]_27545681[PMID]</SourceOfValidation>
+          <Gene id="24264">
+            <Name lang="en">ubiquitin like modifier activating enzyme 5</Name>
+            <Symbol>UBA5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ23251</Synonym>
+              <Synonym lang="en">UBA5, ubiquitin-activating enzyme E1 homolog (yeast)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126981">
+                <Source>HGNC</Source>
+                <Reference>23230</Reference>
+              </ExternalReference>
+              <ExternalReference id="126982">
+                <Source>OMIM</Source>
+                <Reference>610552</Reference>
+              </ExternalReference>
+              <ExternalReference id="126983">
+                <Source>Genatlas</Source>
+                <Reference>UBA5</Reference>
+              </ExternalReference>
+              <ExternalReference id="126984">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZZ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="126985">
+                <Source>Reactome</Source>
+                <Reference>Q9GZZ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="126986">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081307</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26997">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27616483[PMID]</SourceOfValidation>
+          <Gene id="24265">
+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2D</Name>
+            <Symbol>GRIN2D</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">EB11</Synonym>
+              <Synonym lang="en">GluN2D</Synonym>
+              <Synonym lang="en">N-methyl-d-aspartate receptor subunit 2D</Synonym>
+              <Synonym lang="en">NR2D</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126990">
+                <Source>OMIM</Source>
+                <Reference>602717</Reference>
+              </ExternalReference>
+              <ExternalReference id="126991">
+                <Source>Genatlas</Source>
+                <Reference>GRIN2D</Reference>
+              </ExternalReference>
+              <ExternalReference id="126992">
+                <Source>SwissProt</Source>
+                <Reference>O15399</Reference>
+              </ExternalReference>
+              <ExternalReference id="126993">
+                <Source>Reactome</Source>
+                <Reference>O15399</Reference>
+              </ExternalReference>
+              <ExternalReference id="126994">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105464</Reference>
+              </ExternalReference>
+              <ExternalReference id="126989">
+                <Source>HGNC</Source>
+                <Reference>4588</Reference>
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+              <ExternalReference id="126995">
+                <Source>IUPHAR</Source>
+                <Reference>459</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="27013">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32427860[PMID]</SourceOfValidation>
+          <Gene id="29286">
+            <Name lang="en">DALR anticodon binding domain containing 3</Name>
+            <Symbol>DALRD3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ10496</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="184320">
+                <Source>HGNC</Source>
+                <Reference>25536</Reference>
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+              <ExternalReference id="184321">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178149</Reference>
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+              <ExternalReference id="184322">
+                <Source>SwissProt</Source>
+                <Reference>Q5D0E6</Reference>
+              </ExternalReference>
+              <ExternalReference id="184323">
+                <Source>Reactome</Source>
+                <Reference>Q5D0E6</Reference>
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+              <ExternalReference id="184324">
+                <Source>OMIM</Source>
+                <Reference>618904</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="55493">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28364549[PMID]</SourceOfValidation>
+          <Gene id="26795">
+            <Name lang="en">trafficking kinesin protein 1</Name>
+            <Symbol>TRAK1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA1042</Synonym>
+              <Synonym lang="en">MILT1</Synonym>
+              <Synonym lang="en">O-linked N-acetylglucosamine transferase interacting protein 106</Synonym>
+              <Synonym lang="en">OGT(O Glc NAc transferase) interacting protein 106 KDa</Synonym>
+              <Synonym lang="en">OIP106</Synonym>
+              <Synonym lang="en">milton homolog 1 (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="157014">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPV9</Reference>
+              </ExternalReference>
+              <ExternalReference id="157015">
+                <Source>OMIM</Source>
+                <Reference>608112</Reference>
+              </ExternalReference>
+              <ExternalReference id="157012">
+                <Source>HGNC</Source>
+                <Reference>29947</Reference>
+              </ExternalReference>
+              <ExternalReference id="157013">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182606</Reference>
+              </ExternalReference>
+              <ExternalReference id="157016">
+                <Source>Genatlas</Source>
+                <Reference>TRAK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="157017">
+                <Source>Reactome</Source>
+                <Reference>Q9UPV9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="47361">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27476654[PMID]_28777935[PMID]</SourceOfValidation>
+          <Gene id="24907">
+            <Name lang="en">solute carrier family 1 member 2</Name>
+            <Symbol>SLC1A2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EAAT2</Synonym>
+              <Synonym lang="en">GLT-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="132447">
+                <Source>OMIM</Source>
+                <Reference>600300</Reference>
+              </ExternalReference>
+              <ExternalReference id="133171">
+                <Source>SwissProt</Source>
+                <Reference>P43004</Reference>
+              </ExternalReference>
+              <ExternalReference id="133580">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110436</Reference>
+              </ExternalReference>
+              <ExternalReference id="134533">
+                <Source>Reactome</Source>
+                <Reference>P43004</Reference>
+              </ExternalReference>
+              <ExternalReference id="190786">
+                <Source>IUPHAR</Source>
+                <Reference>869</Reference>
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+              <ExternalReference id="143157">
+                <Source>Genatlas</Source>
+                <Reference>SLC1A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10940</Reference>
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+            <LocusList count="1">
+              <Locus id="60981">
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27889060[PMID]</SourceOfValidation>
+          <Gene id="25314">
+            <Name lang="en">adaptor related protein complex 3 subunit beta 2</Name>
+            <Symbol>AP3B2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NAPTB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="141180">
+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103723</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13367</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AP3B2</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>15q25.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29668857[PMID]</SourceOfValidation>
+          <Gene id="25319">
+            <Name lang="en">ATPase H+ transporting V1 subunit A</Name>
+            <Symbol>ATP6V1A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">V-ATPase subunit A</Synonym>
+              <Synonym lang="en">V-type proton ATPase (V-ATPase) catalytic subunit A</Synonym>
+              <Synonym lang="en">VA68</Synonym>
+              <Synonym lang="en">Vma1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114573</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>ATP6V1A</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Reference>810</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29466837[PMID]</SourceOfValidation>
+          <Gene id="24887">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 3</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">Nav1.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153253</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SCN3A</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NY46</Reference>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NY46</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit beta2</Name>
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+              <Synonym lang="en">GABA(A) receptor, beta 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P47870</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P47870</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145864</Reference>
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+                <Source>IUPHAR</Source>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
+          <Gene id="21870">
+            <Name lang="en">clathrin heavy chain</Name>
+            <Symbol>CLTC</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
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+              <Synonym lang="en">Nogo-B receptor</Synonym>
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+              <Synonym lang="en">transport and golgi organization 14 homolog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96E22</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96E22</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29534297[PMID]</SourceOfValidation>
+          <Gene id="27160">
+            <Name lang="en">cytoplasmic FMR1 interacting protein 2</Name>
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+              <Synonym lang="en">p53 inducible protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000055163</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96F07</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606323</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CYFIP2</Reference>
+              </ExternalReference>
+              <ExternalReference id="158667">
+                <Source>Reactome</Source>
+                <Reference>Q96F07</Reference>
+              </ExternalReference>
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+              <Locus id="48871">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
+          <Gene id="22282">
+            <Name lang="en">neurotrophic receptor tyrosine kinase 2</Name>
+            <Symbol>NTRK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BDNF/NT-3 growth factors receptor</Synonym>
+              <Synonym lang="en">TRKB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="81429">
+                <Source>Genatlas</Source>
+                <Reference>NTRK2</Reference>
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+              <ExternalReference id="81427">
+                <Source>HGNC</Source>
+                <Reference>8032</Reference>
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+              <ExternalReference id="83979">
+                <Source>IUPHAR</Source>
+                <Reference>1818</Reference>
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+              <ExternalReference id="81428">
+                <Source>OMIM</Source>
+                <Reference>600456</Reference>
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+              <ExternalReference id="83977">
+                <Source>Reactome</Source>
+                <Reference>Q16620</Reference>
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+              <ExternalReference id="81430">
+                <Source>SwissProt</Source>
+                <Reference>Q16620</Reference>
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+              <ExternalReference id="83978">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148053</Reference>
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+            <LocusList count="1">
+              <Locus id="25115">
+                <GeneLocus>9q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34605855[PMID]</SourceOfValidation>
+          <Gene id="31533">
+            <Name lang="en">solute carrier family 38 member 3</Name>
+            <Symbol>SLC38A3</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>18044</Reference>
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+              <ExternalReference id="207653">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188338</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604437</Reference>
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+              <ExternalReference id="207655">
+                <Source>IUPHAR</Source>
+                <Reference>1172</Reference>
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+              <ExternalReference id="207656">
+                <Source>SwissProt</Source>
+                <Reference>Q99624</Reference>
+              </ExternalReference>
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+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27164707[PMID]</SourceOfValidation>
+          <Gene id="24135">
+            <Name lang="en">fibroblast growth factor 12</Name>
+            <Symbol>FGF12</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FHF1</Synonym>
+              <Synonym lang="en">fibroblast growth factor 12B</Synonym>
+              <Synonym lang="en">fibroblast growth factor FGF-12b</Synonym>
+              <Synonym lang="en">fibroblast growth factor homologous factor 1</Synonym>
+              <Synonym lang="en">myocyte-activating factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126138">
+                <Source>HGNC</Source>
+                <Reference>3668</Reference>
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+              <ExternalReference id="126139">
+                <Source>OMIM</Source>
+                <Reference>601513</Reference>
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+              <ExternalReference id="126140">
+                <Source>Genatlas</Source>
+                <Reference>FGF12</Reference>
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+              <ExternalReference id="126141">
+                <Source>SwissProt</Source>
+                <Reference>P61328</Reference>
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+              <ExternalReference id="126142">
+                <Source>Reactome</Source>
+                <Reference>P61328</Reference>
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+              <ExternalReference id="126143">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114279</Reference>
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+                <GeneLocus>3q28-q29</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23932106[PMID]</SourceOfValidation>
+          <Gene id="22556">
+            <Name lang="en">SZT2 subunit of KICSTOR complex</Name>
+            <Symbol>SZT2</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">FLJ10387</Synonym>
+              <Synonym lang="en">FLJ34502</Synonym>
+              <Synonym lang="en">KICS1</Synonym>
+              <Synonym lang="en">RP11-506B15.1</Synonym>
+              <Synonym lang="en">SZT2A</Synonym>
+              <Synonym lang="en">SZT2B</Synonym>
+              <Synonym lang="en">seizure threshold 2 homolog A (mouse)</Synonym>
+              <Synonym lang="en">seizure threshold 2 homolog B (mouse)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="84588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198198</Reference>
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+              <ExternalReference id="84121">
+                <Source>Genatlas</Source>
+                <Reference>SZT2</Reference>
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+              <ExternalReference id="84119">
+                <Source>HGNC</Source>
+                <Reference>29040</Reference>
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+              <ExternalReference id="84120">
+                <Source>OMIM</Source>
+                <Reference>615463</Reference>
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+              <ExternalReference id="84122">
+                <Source>SwissProt</Source>
+                <Reference>Q5T011</Reference>
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+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33245860[PMID]</SourceOfValidation>
+          <Gene id="30539">
+            <Name lang="en">fibroblast growth factor 13</Name>
+            <Symbol>FGF13</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FGF2</Synonym>
+              <Synonym lang="en">FHF2</Synonym>
+              <Synonym lang="en">FLJ30672</Synonym>
+              <Synonym lang="en">fibroblast growth factor homologous factor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="191779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129682</Reference>
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+              <ExternalReference id="191780">
+                <Source>OMIM</Source>
+                <Reference>300070</Reference>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q92913</Reference>
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+                <GeneLocus>Xq26.3-q27.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33131106[PMID]</SourceOfValidation>
+          <Gene id="30563">
+            <Name lang="en">CUGBP Elav-like family member 2</Name>
+            <Symbol>CELF2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BRUNOL3</Synonym>
+              <Synonym lang="en">Etr-3</Synonym>
+              <Synonym lang="en">NAPOR-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="201038">
+                <Source>SwissProt</Source>
+                <Reference>O95319</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048740</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602538</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2550</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100083[PMID]</SourceOfValidation>
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+            <Name lang="en">dehydrodolichyl diphosphate synthase subunit</Name>
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+            <SynonymList count="5">
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+              <Synonym lang="en">FLJ13102</Synonym>
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+              <Synonym lang="en">hCIT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117682</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DHDDS</Reference>
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+                <Reference>20603</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86SQ9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86SQ9</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28942967[PMID]</SourceOfValidation>
+          <Gene id="26038">
+            <Name lang="en">protein phosphatase 3 catalytic subunit alpha</Name>
+            <Symbol>PPP3CA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CNA1</Synonym>
+              <Synonym lang="en">PPP2B</Synonym>
+              <Synonym lang="en">calcineurin A alpha</Synonym>
+              <Synonym lang="en">protein phosphatase 2B, catalytic subunit, alpha isoform</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q08209</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138814</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">synaptojanin 1</Name>
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+              <Synonym lang="en">phosphoinositide 5-phosphatase</Synonym>
+              <Synonym lang="en">synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159082</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11503</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">synaptic Ras GTPase activating protein 1</Name>
+            <Symbol>SYNGAP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <Gene id="15732">
+            <Name lang="en">WW domain containing oxidoreductase</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">alanyl-tRNA synthetase 1</Name>
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+                <Reference>20</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P49588</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49588</Reference>
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+            <LocusList count="1">
+              <Locus id="11073">
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22365152[PMID]_23708187[PMID]</SourceOfValidation>
+          <Gene id="20890">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 8</Name>
+            <Symbol>SCN8A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CIAT</Synonym>
+              <Synonym lang="en">CerIII</Synonym>
+              <Synonym lang="en">NaCh6</Synonym>
+              <Synonym lang="en">Nav1.6</Synonym>
+              <Synonym lang="en">PN4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="83313">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196876</Reference>
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+              <ExternalReference id="61308">
+                <Source>Genatlas</Source>
+                <Reference>SCN8A</Reference>
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+              <ExternalReference id="61306">
+                <Source>HGNC</Source>
+                <Reference>10596</Reference>
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+              <ExternalReference id="83314">
+                <Source>IUPHAR</Source>
+                <Reference>583</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600702</Reference>
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+              <ExternalReference id="83312">
+                <Source>Reactome</Source>
+                <Reference>Q9UQD0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UQD0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24399846[PMID]</SourceOfValidation>
+          <Gene id="22814">
+            <Name lang="en">NECAP endocytosis associated 1</Name>
+            <Symbol>NECAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP566B183</Synonym>
+              <Synonym lang="en">adaptin-ear-binding coat-associated protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="89607">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089818</Reference>
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+              <ExternalReference id="97142">
+                <Source>Genatlas</Source>
+                <Reference>NECAP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24539</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611623</Reference>
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+              <ExternalReference id="89606">
+                <Source>Reactome</Source>
+                <Reference>Q8NC96</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NC96</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24747641[PMID]_25678871[PMID]</SourceOfValidation>
+          <Gene id="23069">
+            <Name lang="en">hyperpolarization activated cyclic nucleotide gated potassium channel 1</Name>
+            <Symbol>HCN1</Symbol>
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+              <Synonym lang="en">BCNG-1</Synonym>
+              <Synonym lang="en">HAC-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164588</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HCN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4845</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>400</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602780</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60741</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60741</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24995870[PMID]</SourceOfValidation>
+          <Gene id="23070">
+            <Name lang="en">solute carrier family 13 member 5</Name>
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+              <Synonym lang="en">INDY</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q86YT5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141485</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>23089</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q86YT5</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158445</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000018625</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33880529[PMID]</SourceOfValidation>
+          <Gene id="15967">
+            <Name lang="en">ATPase Na+/K+ transporting subunit alpha 3</Name>
+            <Symbol>ATP1A3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">sodium pump subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105409</Reference>
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+                <Reference>801</Reference>
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+            <Name lang="en">gamma-aminobutyric acid type B receptor subunit 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>241</Reference>
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+                <Reference>ENSG00000136928</Reference>
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+              <Synonym lang="en">Cav2.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q00975</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q00975</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>601012</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148408</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Familial hypobetalipoproteinemia</Name>
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+                <Reference>ENSG00000138823</Reference>
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+              <ExternalReference id="37263">
+                <Source>Genatlas</Source>
+                <Reference>MTTP</Reference>
+              </ExternalReference>
+              <ExternalReference id="31527">
+                <Source>HGNC</Source>
+                <Reference>7467</Reference>
+              </ExternalReference>
+              <ExternalReference id="31526">
+                <Source>OMIM</Source>
+                <Reference>157147</Reference>
+              </ExternalReference>
+              <ExternalReference id="57062">
+                <Source>Reactome</Source>
+                <Reference>P55157</Reference>
+              </ExternalReference>
+              <ExternalReference id="33552">
+                <Source>SwissProt</Source>
+                <Reference>P55157</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21151">
+                <GeneLocus>4q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21874758[PMID]_19762784[PMID]_21874758[PMID]</SourceOfValidation>
+          <Gene id="16625">
+            <Name lang="en">proprotein convertase subtilisin/kexin type 9</Name>
+            <Symbol>PCSK9</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FH3</Synonym>
+              <Synonym lang="en">NARC-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57089">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169174</Reference>
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+              <ExternalReference id="32179">
+                <Source>Genatlas</Source>
+                <Reference>PCSK9</Reference>
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+              <ExternalReference id="32181">
+                <Source>HGNC</Source>
+                <Reference>20001</Reference>
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+              <ExternalReference id="83022">
+                <Source>IUPHAR</Source>
+                <Reference>2388</Reference>
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+              <ExternalReference id="32180">
+                <Source>OMIM</Source>
+                <Reference>607786</Reference>
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+              <ExternalReference id="33729">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBP7</Reference>
+              </ExternalReference>
+              <ExternalReference id="126367">
+                <Source>Reactome</Source>
+                <Reference>Q8NBP7</Reference>
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+            </ExternalReferenceList>
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+                <GeneLocus>1p32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19074352[PMID]_24941081[PMID]_24941082[PMID]_25225788[PMID]</SourceOfValidation>
+          <Gene id="17444">
+            <Name lang="en">apolipoprotein C3</Name>
+            <Symbol>APOC3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110245</Reference>
+              </ExternalReference>
+              <ExternalReference id="38101">
+                <Source>Genatlas</Source>
+                <Reference>APOC3</Reference>
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+              <ExternalReference id="38103">
+                <Source>HGNC</Source>
+                <Reference>610</Reference>
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+              <ExternalReference id="46803">
+                <Source>OMIM</Source>
+                <Reference>107720</Reference>
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+              <ExternalReference id="59422">
+                <Source>Reactome</Source>
+                <Reference>P02656</Reference>
+              </ExternalReference>
+              <ExternalReference id="38102">
+                <Source>SwissProt</Source>
+                <Reference>P02656</Reference>
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+              <Locus id="10221">
+                <GeneLocus>11q23.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21874758[PMID]_20942659[PMID]_22062970[PMID]_22155345[PMID]_22659251[PMID]</SourceOfValidation>
+          <Gene id="19508">
+            <Name lang="en">angiopoietin like 3</Name>
+            <Symbol>ANGPTL3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">angiopoietin 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132855</Reference>
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+              <ExternalReference id="49966">
+                <Source>Genatlas</Source>
+                <Reference>ANGPTL3</Reference>
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+              <ExternalReference id="49967">
+                <Source>HGNC</Source>
+                <Reference>491</Reference>
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+              <ExternalReference id="49969">
+                <Source>OMIM</Source>
+                <Reference>604774</Reference>
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+              <ExternalReference id="49968">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5C1</Reference>
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+              <ExternalReference id="126399">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5C1</Reference>
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+                <GeneLocus>1p31.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23324548[PMID]</SourceOfValidation>
+          <Gene id="23128">
+            <Name lang="en">myosin regulatory light chain interacting protein</Name>
+            <Symbol>MYLIP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor</Synonym>
+              <Synonym lang="en">IDOL</Synonym>
+              <Synonym lang="en">MIR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95194">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007944</Reference>
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+              <ExternalReference id="95192">
+                <Source>Genatlas</Source>
+                <Reference>MYLIP</Reference>
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+              <ExternalReference id="95190">
+                <Source>HGNC</Source>
+                <Reference>21155</Reference>
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+              <ExternalReference id="95191">
+                <Source>OMIM</Source>
+                <Reference>610082</Reference>
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+              <ExternalReference id="100360">
+                <Source>Reactome</Source>
+                <Reference>Q8WY64</Reference>
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+              <ExternalReference id="95193">
+                <Source>SwissProt</Source>
+                <Reference>Q8WY64</Reference>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25390462[PMID]_16449388[PMID]_21874758[PMID]</SourceOfValidation>
+          <Gene id="23129">
+            <Name lang="en">NPC1 like intracellular cholesterol transporter 1</Name>
+            <Symbol>NPC1L1</Symbol>
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+              <Synonym lang="en">SLC65A2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="95200">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000015520</Reference>
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+              <ExternalReference id="95198">
+                <Source>Genatlas</Source>
+                <Reference>NPC1L1</Reference>
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+              <ExternalReference id="95196">
+                <Source>HGNC</Source>
+                <Reference>7898</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2629</Reference>
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+              <ExternalReference id="95197">
+                <Source>OMIM</Source>
+                <Reference>608010</Reference>
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+              <ExternalReference id="97007">
+                <Source>Reactome</Source>
+                <Reference>Q9UHC9</Reference>
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+              <ExternalReference id="95199">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHC9</Reference>
+              </ExternalReference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21874758[PMID]_12551903[PMID]_21122650[PMID]_21981844[PMID]_22588666[PMID]</SourceOfValidation>
+          <Gene id="15938">
+            <Name lang="en">apolipoprotein B</Name>
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+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57059">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000084674</Reference>
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+                <Source>HGNC</Source>
+                <Reference>603</Reference>
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+              <ExternalReference id="28890">
+                <Source>OMIM</Source>
+                <Reference>107730</Reference>
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+              <ExternalReference id="57060">
+                <Source>Reactome</Source>
+                <Reference>P04114</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04114</Reference>
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+      <Name lang="en">Mitochondrial neurogastrointestinal encephalomyopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
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+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">thymidine phosphorylase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ribonucleotide reductase regulatory TP53 inducible subunit M2B</Name>
+            <Symbol>RRM2B</Symbol>
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+              <Synonym lang="en">p53R2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048392</Reference>
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+                <Reference>2754</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q7LG56</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">DNA ligase 3</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Postural orthostatic tachycardia syndrome due to NET deficiency</Name>
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+            <SynonymList count="2">
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+              <Synonym lang="en">norepinephrine transporter</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103546</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC6A2</Reference>
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+                <Reference>11048</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>926</Reference>
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+                <Source>OMIM</Source>
+                <Reference>163970</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <OrphaCode>552</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=552</ExpertLink>
+      <Name lang="en">MODY</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="13">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21989597[PMID]</SourceOfValidation>
+          <Gene id="15056">
+            <Name lang="en">ATP binding cassette subfamily C member 8</Name>
+            <Symbol>ABCC8</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ABC36</Synonym>
+              <Synonym lang="en">HHF1</Synonym>
+              <Synonym lang="en">HI</Synonym>
+              <Synonym lang="en">MRP8</Synonym>
+              <Synonym lang="en">PHHI</Synonym>
+              <Synonym lang="en">SUR1</Synonym>
+              <Synonym lang="en">TNDM2</Synonym>
+              <Synonym lang="en">sulfonylurea receptor (hyperinsulinemia)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006071</Reference>
+              </ExternalReference>
+              <ExternalReference id="24690">
+                <Source>Genatlas</Source>
+                <Reference>ABCC8</Reference>
+              </ExternalReference>
+              <ExternalReference id="24692">
+                <Source>HGNC</Source>
+                <Reference>59</Reference>
+              </ExternalReference>
+              <ExternalReference id="82726">
+                <Source>IUPHAR</Source>
+                <Reference>2594</Reference>
+              </ExternalReference>
+              <ExternalReference id="24691">
+                <Source>OMIM</Source>
+                <Reference>600509</Reference>
+              </ExternalReference>
+              <ExternalReference id="59428">
+                <Source>Reactome</Source>
+                <Reference>Q09428</Reference>
+              </ExternalReference>
+              <ExternalReference id="32333">
+                <Source>SwissProt</Source>
+                <Reference>Q09428</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]</SourceOfValidation>
+          <Gene id="15431">
+            <Name lang="en">carboxyl ester lipase</Name>
+            <Symbol>CEL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BSSL</Synonym>
+              <Synonym lang="en">MODY8</Synonym>
+              <Synonym lang="en">bile salt-stimulated lipase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58791">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170835</Reference>
+              </ExternalReference>
+              <ExternalReference id="26486">
+                <Source>Genatlas</Source>
+                <Reference>CEL</Reference>
+              </ExternalReference>
+              <ExternalReference id="26484">
+                <Source>HGNC</Source>
+                <Reference>1848</Reference>
+              </ExternalReference>
+              <ExternalReference id="193682">
+                <Source>IUPHAR</Source>
+                <Reference>2872</Reference>
+              </ExternalReference>
+              <ExternalReference id="26483">
+                <Source>OMIM</Source>
+                <Reference>114840</Reference>
+              </ExternalReference>
+              <ExternalReference id="58792">
+                <Source>Reactome</Source>
+                <Reference>P19835</Reference>
+              </ExternalReference>
+              <ExternalReference id="32400">
+                <Source>SwissProt</Source>
+                <Reference>P19835</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66773">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]</SourceOfValidation>
+          <Gene id="16110">
+            <Name lang="en">glucokinase</Name>
+            <Symbol>GCK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HK4</Synonym>
+              <Synonym lang="en">hexokinase 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58793">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106633</Reference>
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+              <ExternalReference id="29754">
+                <Source>Genatlas</Source>
+                <Reference>GCK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4195</Reference>
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+              <ExternalReference id="29755">
+                <Source>OMIM</Source>
+                <Reference>138079</Reference>
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+              <ExternalReference id="58794">
+                <Source>Reactome</Source>
+                <Reference>P35557</Reference>
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+              <ExternalReference id="33125">
+                <Source>SwissProt</Source>
+                <Reference>P35557</Reference>
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+              <ExternalReference id="193608">
+                <Source>IUPHAR</Source>
+                <Reference>2798</Reference>
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+                <GeneLocus>7p13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]</SourceOfValidation>
+          <Gene id="16210">
+            <Name lang="en">hepatocyte nuclear factor 4 alpha</Name>
+            <Symbol>HNF4A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HNF4</Synonym>
+              <Synonym lang="en">NR2A1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="37480">
+                <Source>Genatlas</Source>
+                <Reference>HNF4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="30239">
+                <Source>HGNC</Source>
+                <Reference>5024</Reference>
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+              <ExternalReference id="82953">
+                <Source>IUPHAR</Source>
+                <Reference>608</Reference>
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+              <ExternalReference id="30238">
+                <Source>OMIM</Source>
+                <Reference>600281</Reference>
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+              <ExternalReference id="58799">
+                <Source>Reactome</Source>
+                <Reference>P41235</Reference>
+              </ExternalReference>
+              <ExternalReference id="33274">
+                <Source>SwissProt</Source>
+                <Reference>P41235</Reference>
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+              <ExternalReference id="58798">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101076</Reference>
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+                <GeneLocus>20q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22701567[PMID]</SourceOfValidation>
+          <Gene id="16292">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-sensitive inward rectifier potassium channel 11</Synonym>
+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
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+              <ExternalReference id="30625">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
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+              <ExternalReference id="30623">
+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
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+              <ExternalReference id="82967">
+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
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+              <ExternalReference id="30622">
+                <Source>OMIM</Source>
+                <Reference>600937</Reference>
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+              <ExternalReference id="59295">
+                <Source>Reactome</Source>
+                <Reference>Q14654</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
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+                <GeneLocus>11p15.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]</SourceOfValidation>
+          <Gene id="16309">
+            <Name lang="en">KLF transcription factor 11</Name>
+            <Symbol>KLF11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MODY7</Synonym>
+              <Synonym lang="en">Tieg3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172059</Reference>
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+                <Reference>KLF11</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]</SourceOfValidation>
+          <Gene id="16540">
+            <Name lang="en">neuronal differentiation 1</Name>
+            <Symbol>NEUROD1</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">BHF-1</Synonym>
+              <Synonym lang="en">MODY6</Synonym>
+              <Synonym lang="en">NeuroD</Synonym>
+              <Synonym lang="en">bHLHa3</Synonym>
+              <Synonym lang="en">beta-cell E-box transactivator 2</Synonym>
+              <Synonym lang="en">neurogenic helix-loop-helix protein NEUROD</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162992</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q13562</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13562</Reference>
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+          <SourceOfValidation>21844708[PMID]_22498247[PMID]</SourceOfValidation>
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+            <Name lang="en">pancreatic and duodenal homeobox 1</Name>
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+              <Synonym lang="en">MODY4</Synonym>
+              <Synonym lang="en">PDX-1</Synonym>
+              <Synonym lang="en">STF-1</Synonym>
+              <Synonym lang="en">somatostatin transcription factor 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>PDX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6107</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">HNF1 homeobox A</Name>
+            <Symbol>HNF1A</Symbol>
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+              <Synonym lang="en">HNF1a</Synonym>
+              <Synonym lang="en">LFB1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>P20823</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="17750">
+            <Name lang="en">insulin</Name>
+            <Symbol>INS</Symbol>
+            <SynonymList count="0">
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+                <Source>Reactome</Source>
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+            <Name lang="en">paired box 4</Name>
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+                <Source>Reactome</Source>
+                <Reference>O43316</Reference>
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+            <Name lang="en">BLK proto-oncogene, Src family tyrosine kinase</Name>
+            <Symbol>BLK</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1940</Reference>
+              </ExternalReference>
+              <ExternalReference id="45362">
+                <Source>OMIM</Source>
+                <Reference>191305</Reference>
+              </ExternalReference>
+              <ExternalReference id="58790">
+                <Source>Reactome</Source>
+                <Reference>P51451</Reference>
+              </ExternalReference>
+              <ExternalReference id="45363">
+                <Source>SwissProt</Source>
+                <Reference>P51451</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24125">
+                <GeneLocus>8p23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26073777[PMID]</SourceOfValidation>
+          <Gene id="23347">
+            <Name lang="en">adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1</Name>
+            <Symbol>APPL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">APPL</Synonym>
+              <Synonym lang="en">DCC-interacting protein 13-alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="96205">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157500</Reference>
+              </ExternalReference>
+              <ExternalReference id="96202">
+                <Source>Genatlas</Source>
+                <Reference>APPL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="96200">
+                <Source>HGNC</Source>
+                <Reference>24035</Reference>
+              </ExternalReference>
+              <ExternalReference id="96201">
+                <Source>OMIM</Source>
+                <Reference>604299</Reference>
+              </ExternalReference>
+              <ExternalReference id="96204">
+                <Source>Reactome</Source>
+                <Reference>Q9UKG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="96203">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKG1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16071">
+                <GeneLocus>3p14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23440">
+      <OrphaCode>443087</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=443087</ExpertLink>
+      <Name lang="en">46,XY disorder of sex development due to testicular 17,20-desmolase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21802064[PMID]</SourceOfValidation>
+          <Gene id="20808">
+            <Name lang="en">aldo-keto reductase family 1 member C2</Name>
+            <Symbol>AKR1C2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BABP</Synonym>
+              <Synonym lang="en">DD</Synonym>
+              <Synonym lang="en">DD2</Synonym>
+              <Synonym lang="en">HAKRD</Synonym>
+              <Synonym lang="en">MCDR2</Synonym>
+              <Synonym lang="en">dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151632</Reference>
+              </ExternalReference>
+              <ExternalReference id="60995">
+                <Source>Genatlas</Source>
+                <Reference>AKR1C2</Reference>
+              </ExternalReference>
+              <ExternalReference id="60993">
+                <Source>HGNC</Source>
+                <Reference>385</Reference>
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+              <ExternalReference id="60994">
+                <Source>OMIM</Source>
+                <Reference>600450</Reference>
+              </ExternalReference>
+              <ExternalReference id="83254">
+                <Source>Reactome</Source>
+                <Reference>P52895</Reference>
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+              <ExternalReference id="60996">
+                <Source>SwissProt</Source>
+                <Reference>P52895</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24717">
+                <GeneLocus>10p15.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21802064[PMID]</SourceOfValidation>
+          <Gene id="20809">
+            <Name lang="en">aldo-keto reductase family 1 member C4</Name>
+            <Symbol>AKR1C4</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">'3-alpha hydroxysteroid dehydrogenase, type I'</Synonym>
+              <Synonym lang="en">3-alpha-HSD</Synonym>
+              <Synonym lang="en">C11</Synonym>
+              <Synonym lang="en">CDR</Synonym>
+              <Synonym lang="en">DD4</Synonym>
+              <Synonym lang="en">HAKRA</Synonym>
+              <Synonym lang="en">MGC22581</Synonym>
+              <Synonym lang="en">chlordecone reductase</Synonym>
+              <Synonym lang="en">chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4</Synonym>
+              <Synonym lang="en">dihydrodiol dehydrogenase 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83257">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198610</Reference>
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+              <ExternalReference id="61000">
+                <Source>Genatlas</Source>
+                <Reference>AKR1C4</Reference>
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+              <ExternalReference id="60998">
+                <Source>HGNC</Source>
+                <Reference>387</Reference>
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+              <ExternalReference id="60999">
+                <Source>OMIM</Source>
+                <Reference>600451</Reference>
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+              <ExternalReference id="83256">
+                <Source>Reactome</Source>
+                <Reference>P17516</Reference>
+              </ExternalReference>
+              <ExternalReference id="61001">
+                <Source>SwissProt</Source>
+                <Reference>P17516</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13615">
+                <GeneLocus>10p15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23447">
+      <OrphaCode>443167</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=443167</ExpertLink>
+      <Name lang="en">NUT midline carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22017582[PMID]</SourceOfValidation>
+          <Gene id="23629">
+            <Name lang="en">NUT midline carcinoma family member 1</Name>
+            <Symbol>NUTM1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp434O192</Synonym>
+              <Synonym lang="en">FAM22H</Synonym>
+              <Synonym lang="en">NUT</Synonym>
+              <Synonym lang="en">nuclear protein in testis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="98723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184507</Reference>
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+              <ExternalReference id="98721">
+                <Source>Genatlas</Source>
+                <Reference>NUT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29919</Reference>
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+              <ExternalReference id="98720">
+                <Source>OMIM</Source>
+                <Reference>608963</Reference>
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+              <ExternalReference id="98722">
+                <Source>SwissProt</Source>
+                <Reference>Q86Y26</Reference>
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+              <ExternalReference id="143820">
+                <Source>Reactome</Source>
+                <Reference>Q86Y26</Reference>
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+              <Locus id="39103">
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22017582[PMID]</SourceOfValidation>
+          <Gene id="23630">
+            <Name lang="en">bromodomain containing 4</Name>
+            <Symbol>BRD4</Symbol>
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+              <Synonym lang="en">CAP</Synonym>
+              <Synonym lang="en">HUNK1</Synonym>
+              <Synonym lang="en">HUNKI</Synonym>
+              <Synonym lang="en">MCAP</Synonym>
+              <Synonym lang="en">chromosome-associated protein</Synonym>
+              <Synonym lang="en">mitotic chromosome-associated protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="98729">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141867</Reference>
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+              <ExternalReference id="98727">
+                <Source>Genatlas</Source>
+                <Reference>BRD4</Reference>
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+              <ExternalReference id="98725">
+                <Source>HGNC</Source>
+                <Reference>13575</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1945</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608749</Reference>
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+              <ExternalReference id="98728">
+                <Source>SwissProt</Source>
+                <Reference>O60885</Reference>
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+              <ExternalReference id="143129">
+                <Source>Reactome</Source>
+                <Reference>O60885</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Brugada syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">hyperpolarization activated cyclic nucleotide gated potassium channel 4</Name>
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+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138622</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>403</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y3Q4</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ATP binding cassette subfamily C member 9</Name>
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+              <Synonym lang="en">sulfonylurea receptor 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O60706</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="15395">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit beta 2</Name>
+            <Symbol>CACNB2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165995</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600003</Reference>
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+              <ExternalReference id="58772">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="15392">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 C</Name>
+            <Symbol>CACNA1C</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CACH2</Synonym>
+              <Synonym lang="en">CACN2</Synonym>
+              <Synonym lang="en">Cav1.2</Synonym>
+              <Synonym lang="en">LQT8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151067</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>529</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114205</Reference>
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+              <ExternalReference id="58770">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13936</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]_20817017[PMID]_17224476[PMID]</SourceOfValidation>
+          <Gene id="21102">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit alpha2delta 1</Name>
+            <Symbol>CACNA2D1</Symbol>
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+              <Synonym lang="en">lncRNA-N3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153956</Reference>
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+              <ExternalReference id="61969">
+                <Source>Genatlas</Source>
+                <Reference>CACNA2D1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1399</Reference>
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+              <ExternalReference id="61968">
+                <Source>OMIM</Source>
+                <Reference>114204</Reference>
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+              <ExternalReference id="98098">
+                <Source>Reactome</Source>
+                <Reference>P54289</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P54289</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="16289">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 3</Name>
+            <Symbol>KCNE3</Symbol>
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+              <Synonym lang="en">HOKPP</Synonym>
+              <Synonym lang="en">MiRP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175538</Reference>
+              </ExternalReference>
+              <ExternalReference id="30607">
+                <Source>Genatlas</Source>
+                <Reference>KCNE3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30609">
+                <Source>HGNC</Source>
+                <Reference>6243</Reference>
+              </ExternalReference>
+              <ExternalReference id="30608">
+                <Source>OMIM</Source>
+                <Reference>604433</Reference>
+              </ExternalReference>
+              <ExternalReference id="98063">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6H6</Reference>
+              </ExternalReference>
+              <ExternalReference id="33354">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6H6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17737">
+                <GeneLocus>11q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="18900">
+            <Name lang="en">glycerol-3-phosphate dehydrogenase 1 like</Name>
+            <Symbol>GPD1L</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0089</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58773">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152642</Reference>
+              </ExternalReference>
+              <ExternalReference id="43759">
+                <Source>Genatlas</Source>
+                <Reference>GPD1L</Reference>
+              </ExternalReference>
+              <ExternalReference id="43760">
+                <Source>HGNC</Source>
+                <Reference>28956</Reference>
+              </ExternalReference>
+              <ExternalReference id="43761">
+                <Source>OMIM</Source>
+                <Reference>611778</Reference>
+              </ExternalReference>
+              <ExternalReference id="58774">
+                <Source>Reactome</Source>
+                <Reference>Q8N335</Reference>
+              </ExternalReference>
+              <ExternalReference id="43762">
+                <Source>SwissProt</Source>
+                <Reference>Q8N335</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10903">
+                <GeneLocus>3p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21349352[PMID]_20301690[PMID]</SourceOfValidation>
+          <Gene id="21162">
+            <Name lang="en">potassium voltage-gated channel subfamily D member 3</Name>
+            <Symbol>KCND3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KSHIVB</Synonym>
+              <Synonym lang="en">Kv4.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171385</Reference>
+              </ExternalReference>
+              <ExternalReference id="69556">
+                <Source>Genatlas</Source>
+                <Reference>KCND3</Reference>
+              </ExternalReference>
+              <ExternalReference id="69554">
+                <Source>HGNC</Source>
+                <Reference>6239</Reference>
+              </ExternalReference>
+              <ExternalReference id="83388">
+                <Source>IUPHAR</Source>
+                <Reference>554</Reference>
+              </ExternalReference>
+              <ExternalReference id="69555">
+                <Source>OMIM</Source>
+                <Reference>605411</Reference>
+              </ExternalReference>
+              <ExternalReference id="83386">
+                <Source>Reactome</Source>
+                <Reference>Q9UK17</Reference>
+              </ExternalReference>
+              <ExternalReference id="69557">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK17</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11975">
+                <GeneLocus>1p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="18901">
+            <Name lang="en">sodium voltage-gated channel beta subunit 3</Name>
+            <Symbol>SCN3B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HSA243396</Synonym>
+              <Synonym lang="en">SCNB3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58780">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166257</Reference>
+              </ExternalReference>
+              <ExternalReference id="43764">
+                <Source>Genatlas</Source>
+                <Reference>SCN3B</Reference>
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+              <ExternalReference id="43765">
+                <Source>HGNC</Source>
+                <Reference>20665</Reference>
+              </ExternalReference>
+              <ExternalReference id="43766">
+                <Source>OMIM</Source>
+                <Reference>608214</Reference>
+              </ExternalReference>
+              <ExternalReference id="58781">
+                <Source>Reactome</Source>
+                <Reference>Q9NY72</Reference>
+              </ExternalReference>
+              <ExternalReference id="43767">
+                <Source>SwissProt</Source>
+                <Reference>Q9NY72</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10905">
+                <GeneLocus>11q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23382873[PMID]_20301690[PMID]</SourceOfValidation>
+          <Gene id="18650">
+            <Name lang="en">transient receptor potential cation channel subfamily M member 4</Name>
+            <Symbol>TRPM4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20041</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83154">
+                <Source>Reactome</Source>
+                <Reference>Q8TD43</Reference>
+              </ExternalReference>
+              <ExternalReference id="43052">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD43</Reference>
+              </ExternalReference>
+              <ExternalReference id="57885">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130529</Reference>
+              </ExternalReference>
+              <ExternalReference id="43049">
+                <Source>Genatlas</Source>
+                <Reference>TRPM4</Reference>
+              </ExternalReference>
+              <ExternalReference id="43050">
+                <Source>HGNC</Source>
+                <Reference>17993</Reference>
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+              <ExternalReference id="83155">
+                <Source>IUPHAR</Source>
+                <Reference>496</Reference>
+              </ExternalReference>
+              <ExternalReference id="43051">
+                <Source>OMIM</Source>
+                <Reference>606936</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66785">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24998131[PMID]_25691538[PMID]</SourceOfValidation>
+          <Gene id="21860">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 10</Name>
+            <Symbol>SCN10A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Nav1.8</Synonym>
+              <Synonym lang="en">PN3</Synonym>
+              <Synonym lang="en">SNS</Synonym>
+              <Synonym lang="en">hPN3</Synonym>
+              <Synonym lang="en">peripheral nerve sodium channel 3</Synonym>
+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185313</Reference>
+              </ExternalReference>
+              <ExternalReference id="77054">
+                <Source>Genatlas</Source>
+                <Reference>SCN10A</Reference>
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+              <ExternalReference id="77052">
+                <Source>HGNC</Source>
+                <Reference>10582</Reference>
+              </ExternalReference>
+              <ExternalReference id="83657">
+                <Source>IUPHAR</Source>
+                <Reference>585</Reference>
+              </ExternalReference>
+              <ExternalReference id="77053">
+                <Source>OMIM</Source>
+                <Reference>604427</Reference>
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+              <ExternalReference id="97337">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y9</Reference>
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+              <ExternalReference id="77055">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16921">
+                <GeneLocus>3p22.2</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]_23064965[PMID]</SourceOfValidation>
+          <Gene id="22982">
+            <Name lang="en">sarcolemma associated protein</Name>
+            <Symbol>SLMAP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1601</Synonym>
+              <Synonym lang="en">SLAP</Synonym>
+              <Synonym lang="en">Sarcolemmal-associated protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="91833">
+                <Source>OMIM</Source>
+                <Reference>602701</Reference>
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+              <ExternalReference id="91835">
+                <Source>SwissProt</Source>
+                <Reference>Q14BN4</Reference>
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+              <ExternalReference id="91970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163681</Reference>
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+              <ExternalReference id="91834">
+                <Source>Genatlas</Source>
+                <Reference>SLMAP</Reference>
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+              <ExternalReference id="91832">
+                <Source>HGNC</Source>
+                <Reference>16643</Reference>
+              </ExternalReference>
+              <ExternalReference id="143977">
+                <Source>Reactome</Source>
+                <Reference>Q14BN4</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39423">
+                <GeneLocus>3p14.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="15251">
+            <Name lang="en">sodium voltage-gated channel beta subunit 1</Name>
+            <Symbol>SCN1B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105711</Reference>
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+              <ExternalReference id="25624">
+                <Source>Genatlas</Source>
+                <Reference>SCN1B</Reference>
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+              <ExternalReference id="25622">
+                <Source>HGNC</Source>
+                <Reference>10586</Reference>
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+              <ExternalReference id="25621">
+                <Source>OMIM</Source>
+                <Reference>600235</Reference>
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+              <ExternalReference id="58779">
+                <Source>Reactome</Source>
+                <Reference>Q07699</Reference>
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+              <ExternalReference id="33809">
+                <Source>SwissProt</Source>
+                <Reference>Q07699</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24925">
+                <GeneLocus>19q13.11</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27707468_25016126[PMID]</SourceOfValidation>
+          <Gene id="17440">
+            <Name lang="en">A-kinase anchoring protein 9</Name>
+            <Symbol>AKAP9</Symbol>
+            <SynonymList count="18">
+              <Synonym lang="en">A-kinase anchor protein, 350kDa</Synonym>
+              <Synonym lang="en">A-kinase anchoring protein 450</Synonym>
+              <Synonym lang="en">AKAP120-like protein</Synonym>
+              <Synonym lang="en">AKAP350</Synonym>
+              <Synonym lang="en">AKAP450</Synonym>
+              <Synonym lang="en">AKAP9-BRAF fusion protein</Synonym>
+              <Synonym lang="en">CG-NAP</Synonym>
+              <Synonym lang="en">HYPERION</Synonym>
+              <Synonym lang="en">KIAA0803</Synonym>
+              <Synonym lang="en">LQT11</Synonym>
+              <Synonym lang="en">MU-RMS-40.16A</Synonym>
+              <Synonym lang="en">PPP1R45</Synonym>
+              <Synonym lang="en">PRKA9</Synonym>
+              <Synonym lang="en">YOTIAO</Synonym>
+              <Synonym lang="en">centrosome- and golgi-localized protein kinase N-associated protein</Synonym>
+              <Synonym lang="en">protein kinase A anchoring protein 9</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 45</Synonym>
+              <Synonym lang="en">yotiao</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60003">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127914</Reference>
+              </ExternalReference>
+              <ExternalReference id="37964">
+                <Source>Genatlas</Source>
+                <Reference>AKAP9</Reference>
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+              <ExternalReference id="37967">
+                <Source>HGNC</Source>
+                <Reference>379</Reference>
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+              <ExternalReference id="37965">
+                <Source>OMIM</Source>
+                <Reference>604001</Reference>
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+              <ExternalReference id="82665">
+                <Source>Reactome</Source>
+                <Reference>Q99996</Reference>
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+              <ExternalReference id="82610">
+                <Source>SwissProt</Source>
+                <Reference>Q99996</Reference>
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+                <GeneLocus>7q21.2</GeneLocus>
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+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21493962[PMID]</SourceOfValidation>
+          <Gene id="16287">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 5</Name>
+            <Symbol>KCNE5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176076</Reference>
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+              <ExternalReference id="37500">
+                <Source>Genatlas</Source>
+                <Reference>KCNE1L</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6241</Reference>
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+              <ExternalReference id="30598">
+                <Source>OMIM</Source>
+                <Reference>300328</Reference>
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+              <ExternalReference id="98061">
+                <Source>Reactome</Source>
+                <Reference>Q9UJ90</Reference>
+              </ExternalReference>
+              <ExternalReference id="33352">
+                <Source>SwissProt</Source>
+                <Reference>Q9UJ90</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26119">
+                <GeneLocus>Xq23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24142675[PMID]</SourceOfValidation>
+          <Gene id="24709">
+            <Name lang="en">RAN guanine nucleotide release factor</Name>
+            <Symbol>RANGRF</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HSPC165</Synonym>
+              <Synonym lang="en">HSPC236</Synonym>
+              <Synonym lang="en">MOG1</Synonym>
+              <Synonym lang="en">MOG1 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">RANGNRF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143124">
+                <Source>Genatlas</Source>
+                <Reference>RANGRF</Reference>
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+              <ExternalReference id="132257">
+                <Source>OMIM</Source>
+                <Reference>607954</Reference>
+              </ExternalReference>
+              <ExternalReference id="131526">
+                <Source>HGNC</Source>
+                <Reference>17679</Reference>
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+              <ExternalReference id="134408">
+                <Source>Reactome</Source>
+                <Reference>Q9HD47</Reference>
+              </ExternalReference>
+              <ExternalReference id="133425">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108961</Reference>
+              </ExternalReference>
+              <ExternalReference id="132982">
+                <Source>SwissProt</Source>
+                <Reference>Q9HD47</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>17p13.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301690[PMID]</SourceOfValidation>
+          <Gene id="15254">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 5</Name>
+            <Symbol>SCN5A</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">CDCD2</Synonym>
+              <Synonym lang="en">CMPD2</Synonym>
+              <Synonym lang="en">HB1</Synonym>
+              <Synonym lang="en">HB2</Synonym>
+              <Synonym lang="en">HBBD</Synonym>
+              <Synonym lang="en">HH1</Synonym>
+              <Synonym lang="en">ICCD</Synonym>
+              <Synonym lang="en">IVF</Synonym>
+              <Synonym lang="en">LQT3</Synonym>
+              <Synonym lang="en">Nav1.5</Synonym>
+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
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+              <ExternalReference id="25637">
+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
+              </ExternalReference>
+              <ExternalReference id="82772">
+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
+              </ExternalReference>
+              <ExternalReference id="25636">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30821013[PMID]</SourceOfValidation>
+          <Gene id="15256">
+            <Name lang="en">sodium channel epithelial 1 subunit alpha</Name>
+            <Symbol>SCNN1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ENaCalpha</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>10599</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Hsema-I</Synonym>
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+              <Synonym lang="en">SemD</Synonym>
+              <Synonym lang="en">Sema III</Synonym>
+              <Synonym lang="en">coll-1</Synonym>
+              <Synonym lang="en">sema III</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000075213</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000149575</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22056721[PMID]_20301690[PMID]</SourceOfValidation>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 8</Name>
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+                <Source>Reactome</Source>
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+            <Symbol>COPA</Symbol>
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+              <Synonym lang="en">proxenin</Synonym>
+              <Synonym lang="en">xenin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122218</Reference>
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+              <ExternalReference id="98509">
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+      <Name lang="en">Autosomal dominant spastic paraplegia type 73</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">carnitine palmitoyltransferase 1C</Name>
+            <Symbol>CPT1C</Symbol>
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+              <Synonym lang="en">CATL1</Synonym>
+              <Synonym lang="en">CPT1P</Synonym>
+              <Synonym lang="en">CPTIC</Synonym>
+              <Synonym lang="en">FLJ23809</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000169169</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+      <Name lang="en">Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome</Name>
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+            <Name lang="en">calpastatin</Name>
+            <Symbol>CAST</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P20810</Reference>
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+                <Reference>ENSG00000153113</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134900</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TPP2</Reference>
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+              <ExternalReference id="98529">
+                <Source>HGNC</Source>
+                <Reference>12016</Reference>
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+              <ExternalReference id="98535">
+                <Source>IUPHAR</Source>
+                <Reference>2423</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190470</Reference>
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+              <ExternalReference id="98533">
+                <Source>Reactome</Source>
+                <Reference>P29144</Reference>
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+              <ExternalReference id="98532">
+                <Source>SwissProt</Source>
+                <Reference>P29144</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23489">
+      <OrphaCode>444458</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=444458</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 24</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25385316[PMID]</SourceOfValidation>
+          <Gene id="23598">
+            <Name lang="en">asparaginyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>NARS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ23441</Synonym>
+              <Synonym lang="en">SLM5</Synonym>
+              <Synonym lang="en">asparagine tRNA ligase 2, mitochondrial (putative)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000137513</Reference>
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+              <ExternalReference id="98538">
+                <Source>HGNC</Source>
+                <Reference>26274</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612803</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96I59</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96I59</Reference>
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+      <Name lang="en">Limb-girdle muscular dystrophy due to POMK deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24925318[PMID]</SourceOfValidation>
+          <Gene id="22090">
+            <Name lang="en">protein O-mannose kinase</Name>
+            <Symbol>POMK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ23356</Synonym>
+              <Synonym lang="en">SGK196</Synonym>
+              <Synonym lang="en">SgK196</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83812">
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+                <Reference>ENSG00000185900</Reference>
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+              <ExternalReference id="82562">
+                <Source>HGNC</Source>
+                <Reference>26267</Reference>
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+              <ExternalReference id="79288">
+                <Source>OMIM</Source>
+                <Reference>615247</Reference>
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+              <ExternalReference id="79289">
+                <Source>SwissProt</Source>
+                <Reference>Q9H5K3</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H5K3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <OrphaCode>445062</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=445062</ExpertLink>
+      <Name lang="en">Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25466870[PMID]</SourceOfValidation>
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+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C3</Name>
+            <Symbol>DNAJC3</Symbol>
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+              <Synonym lang="en">P58</Synonym>
+              <Synonym lang="en">P58IPK</Synonym>
+              <Synonym lang="en">endoplasmic reticulum DNA J domain-containing protein 6</Synonym>
+              <Synonym lang="en">interferon-induced, double-stranded RNA-activated protein kinase inhibitor</Synonym>
+              <Synonym lang="en">p58(IPK)</Synonym>
+              <Synonym lang="en">protein kinase inhibitor of 58 kDa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="98747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102580</Reference>
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+              <ExternalReference id="98744">
+                <Source>Genatlas</Source>
+                <Reference>DNAJC3</Reference>
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+                <Reference>9439</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601184</Reference>
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+              <ExternalReference id="98746">
+                <Source>Reactome</Source>
+                <Reference>Q13217</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13217</Reference>
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+                <GeneLocus>13q32.1</GeneLocus>
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+      <Name lang="en">3-methylglutaconic aciduria type 7</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">caseinolytic mitochondrial matrix peptidase chaperone subunit B</Name>
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+            <SynonymList count="6">
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+              <Synonym lang="en">FLJ13152</Synonym>
+              <Synonym lang="en">HSP78</Synonym>
+              <Synonym lang="en">SKD3</Synonym>
+              <Synonym lang="en">ankyrin-repeat containing bacterial clp fusion</Synonym>
+              <Synonym lang="en">suppressor of potassium transport defect 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162129</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Combined immunodeficiency due to LRBA deficiency</Name>
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+            <Name lang="en">LPS responsive beige-like anchor protein</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198589</Reference>
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+              <Synonym lang="en">HS</Synonym>
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+                <Source>OMIM</Source>
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+                <Reference>MAP3K14</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006062</Reference>
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+      <Name lang="en">DOCK2 deficiency</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">formyl peptide receptor 1</Name>
+            <Symbol>FPR1</Symbol>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171051</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">Polymerase proofreading-related adenomatous polyposis</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23263490[PMID]</SourceOfValidation>
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+            <Name lang="en">DNA polymerase epsilon, catalytic subunit</Name>
+            <Symbol>POLE</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q07864</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177084</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23263490[PMID]</SourceOfValidation>
+          <Gene id="22403">
+            <Name lang="en">DNA polymerase delta 1, catalytic subunit</Name>
+            <Symbol>POLD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDC2</Synonym>
+              <Synonym lang="en">CDC2 homolog (S. cerevisiae)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000062822</Reference>
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+                <Reference>9175</Reference>
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+                <Reference>P28340</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=447896</ExpertLink>
+      <Name lang="en">Tremor-ataxia-central hypomyelination syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20640464[PMID]</SourceOfValidation>
+          <Gene id="20641">
+            <Name lang="en">RNA polymerase III subunit A</Name>
+            <Symbol>POLR3A</Symbol>
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+              <Synonym lang="en">RPC1</Synonym>
+              <Synonym lang="en">RPC155</Synonym>
+              <Synonym lang="en">hRPC155</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59266">
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+                <Reference>ENSG00000148606</Reference>
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+              <ExternalReference id="54758">
+                <Source>Genatlas</Source>
+                <Reference>POLR3A</Reference>
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+              <ExternalReference id="54756">
+                <Source>HGNC</Source>
+                <Reference>30074</Reference>
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+                <Reference>614258</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14802</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>POLR3A</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148606</Reference>
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+              <ExternalReference id="54758">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="54756">
+                <Source>HGNC</Source>
+                <Reference>30074</Reference>
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+              <ExternalReference id="54757">
+                <Source>OMIM</Source>
+                <Reference>614258</Reference>
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+              <ExternalReference id="59267">
+                <Source>Reactome</Source>
+                <Reference>O14802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14802</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Lipoyl transferase 2 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="23688">
+            <Name lang="en">lipoyl(octanoyl) transferase 2</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175536</Reference>
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+      <Name lang="en">Mitochondrial pyruvate carrier deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>Q9Y5U8</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit beta</Name>
+            <Symbol>PRKAR1B</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Reference>P31321</Reference>
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+                <Reference>P31321</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188191</Reference>
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+              <ExternalReference id="95336">
+                <Source>Genatlas</Source>
+                <Reference>PRKAR1B</Reference>
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+              <ExternalReference id="95334">
+                <Source>HGNC</Source>
+                <Reference>9390</Reference>
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+      <Name lang="en">Autosomal recessive cerebellar ataxia due to STUB1 deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103266</Reference>
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+                <Reference>STUB1</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Epidermolysis bullosa simplex due to BP230 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">dystonin</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151914</Reference>
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+              <ExternalReference id="61145">
+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q03001</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q03001</Reference>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126705</Reference>
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+      <Name lang="en">Epidermolysis bullosa simplex due to exophilin 5 deficiency</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 21</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95889">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143374</Reference>
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+              <ExternalReference id="95885">
+                <Source>HGNC</Source>
+                <Reference>30740</Reference>
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+              <ExternalReference id="95886">
+                <Source>OMIM</Source>
+                <Reference>612805</Reference>
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+              <ExternalReference id="95888">
+                <Source>Reactome</Source>
+                <Reference>Q9BW92</Reference>
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+              <ExternalReference id="95887">
+                <Source>SwissProt</Source>
+                <Reference>Q9BW92</Reference>
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+              <ExternalReference id="156280">
+                <Source>Genatlas</Source>
+                <Reference>TARS2</Reference>
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+            <LocusList count="1">
+              <Locus id="46827">
+                <GeneLocus>1q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="23123">
+      <OrphaCode>420741</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=420741</ExpertLink>
+      <Name lang="en">RIDDLE syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21394101[PMID]_19203578[PMID]</SourceOfValidation>
+          <Gene id="23266">
+            <Name lang="en">ring finger protein 168</Name>
+            <Symbol>RNF168</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ35794</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95871">
+                <Source>Reactome</Source>
+                <Reference>Q8IYW5</Reference>
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+              <ExternalReference id="95870">
+                <Source>SwissProt</Source>
+                <Reference>Q8IYW5</Reference>
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+              <ExternalReference id="95872">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163961</Reference>
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+              <ExternalReference id="95869">
+                <Source>Genatlas</Source>
+                <Reference>RNF168</Reference>
+              </ExternalReference>
+              <ExternalReference id="95867">
+                <Source>HGNC</Source>
+                <Reference>26661</Reference>
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+              <ExternalReference id="95868">
+                <Source>OMIM</Source>
+                <Reference>612688</Reference>
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+            <LocusList count="1">
+              <Locus id="15549">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23109">
+      <OrphaCode>420492</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=420492</ExpertLink>
+      <Name lang="en">Adult-onset cervical dystonia, DYT23 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22447717[PMID]</SourceOfValidation>
+          <Gene id="24422">
+            <Name lang="en">CDKN1A interacting zinc finger protein 1</Name>
+            <Symbol>CIZ1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LSFR1</Synonym>
+              <Synonym lang="en">ZNF356</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="131985">
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+              <ExternalReference id="133728">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148337</Reference>
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+              <ExternalReference id="132698">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULV3</Reference>
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+              <ExternalReference id="144146">
+                <Source>Genatlas</Source>
+                <Reference>CIZ1</Reference>
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+              <ExternalReference id="131239">
+                <Source>HGNC</Source>
+                <Reference>16744</Reference>
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+            <LocusList count="1">
+              <Locus id="39731">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="23108">
+      <OrphaCode>420485</OrphaCode>
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+      <Name lang="en">Cranio-cervical dystonia with laryngeal and upper-limb involvement</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23200863[PMID]</SourceOfValidation>
+          <Gene id="21729">
+            <Name lang="en">anoctamin 3</Name>
+            <Symbol>ANO3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DYT23</Synonym>
+              <Synonym lang="en">GENX-3947</Synonym>
+              <Synonym lang="en">Transmembrane protein 16C (eight membrane-spanning domains)</Synonym>
+              <Synonym lang="en">dystonia 23</Synonym>
+              <Synonym lang="en">transmembrane protein 16C (eight membrane-spanning domains)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83607">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134343</Reference>
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+              <ExternalReference id="76081">
+                <Source>Genatlas</Source>
+                <Reference>ANO3</Reference>
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+              <ExternalReference id="76079">
+                <Source>HGNC</Source>
+                <Reference>14004</Reference>
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+              <ExternalReference id="76080">
+                <Source>OMIM</Source>
+                <Reference>610110</Reference>
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+              <ExternalReference id="83606">
+                <Source>Reactome</Source>
+                <Reference>Q9BYT9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYT9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Glycogen storage disease due to acid maltase deficiency, late-onset</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16088">
+            <Name lang="en">alpha glucosidase</Name>
+            <Symbol>GAA</Symbol>
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+              <Synonym lang="en">Pompe disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56699">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171298</Reference>
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+              <ExternalReference id="29649">
+                <Source>Genatlas</Source>
+                <Reference>GAA</Reference>
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+                <Reference>4065</Reference>
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+              <ExternalReference id="82923">
+                <Source>IUPHAR</Source>
+                <Reference>2611</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606800</Reference>
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+              <ExternalReference id="97221">
+                <Source>Reactome</Source>
+                <Reference>P10253</Reference>
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+              <ExternalReference id="33103">
+                <Source>SwissProt</Source>
+                <Reference>P10253</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">Transient myeloproliferative syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
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+              <Synonym lang="en">GATA-1</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">NFE1</Synonym>
+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000102145</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GATA1</Reference>
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+                <Reference>4170</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P15976</Reference>
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+      <Name lang="en">Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</Name>
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+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180871</Reference>
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+                <Reference>ENSG00000197256</Reference>
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+      <Name lang="en">Temple-Baraitser syndrome</Name>
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+              <Synonym lang="en">eag</Synonym>
+              <Synonym lang="en">eag1</Synonym>
+              <Synonym lang="en">ether-a-go-go 1</Synonym>
+              <Synonym lang="en">h-eag</Synonym>
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+                <Source>Reactome</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
+              <ExternalReference id="33264">
+                <Source>SwissProt</Source>
+                <Reference>P60891</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6875">
+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="23138">
+      <OrphaCode>422526</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=422526</ExpertLink>
+      <Name lang="en">Hereditary clear cell renal cell carcinoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10987279[PMID]</SourceOfValidation>
+          <Gene id="25280">
+            <Name lang="en">8-oxoguanine DNA glycosylase</Name>
+            <Symbol>OGG1</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">8-hydroxyguanine DNA glycosylase</Synonym>
+              <Synonym lang="en">HMMH</Synonym>
+              <Synonym lang="en">HOGG1</Synonym>
+              <Synonym lang="en">MUTM</Synonym>
+              <Synonym lang="en">OGG1 type 1d</Synonym>
+              <Synonym lang="en">OGG1 type 1e</Synonym>
+              <Synonym lang="en">OGG1 type 1g</Synonym>
+              <Synonym lang="en">OGG1 type 1h</Synonym>
+              <Synonym lang="en">OGH1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="142945">
+                <Source>SwissProt</Source>
+                <Reference>O15527</Reference>
+              </ExternalReference>
+              <ExternalReference id="138462">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114026</Reference>
+              </ExternalReference>
+              <ExternalReference id="138463">
+                <Source>HGNC</Source>
+                <Reference>8125</Reference>
+              </ExternalReference>
+              <ExternalReference id="138464">
+                <Source>OMIM</Source>
+                <Reference>601982</Reference>
+              </ExternalReference>
+              <ExternalReference id="138465">
+                <Source>Genatlas</Source>
+                <Reference>OGG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="138466">
+                <Source>Reactome</Source>
+                <Reference>R-HSA-60887</Reference>
+              </ExternalReference>
+              <ExternalReference id="190733">
+                <Source>IUPHAR</Source>
+                <Reference>3060</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60875">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11912179[PMID]_11996788[PMID]</SourceOfValidation>
+          <Gene id="25281">
+            <Name lang="en">solute carrier family 49 member 4</Name>
+            <Symbol>SLC49A4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ14784</Synonym>
+              <Synonym lang="en">RCC4</Synonym>
+              <Synonym lang="en">disrupted in renal cancer protein 2</Synonym>
+              <Synonym lang="en">renal cell carcinoma 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143342">
+                <Source>SwissProt</Source>
+                <Reference>Q96SL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="138468">
+                <Source>HGNC</Source>
+                <Reference>16628</Reference>
+              </ExternalReference>
+              <ExternalReference id="138469">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138463</Reference>
+              </ExternalReference>
+              <ExternalReference id="138470">
+                <Source>OMIM</Source>
+                <Reference>602773</Reference>
+              </ExternalReference>
+              <ExternalReference id="138471">
+                <Source>Genatlas</Source>
+                <Reference>DIRC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="190732">
+                <Source>IUPHAR</Source>
+                <Reference>1913</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60873">
+                <GeneLocus>3q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12471204[PMID]</SourceOfValidation>
+          <Gene id="16054">
+            <Name lang="en">folliculin</Name>
+            <Symbol>FLCN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BHD</Synonym>
+              <Synonym lang="en">DENND8B</Synonym>
+              <Synonym lang="en">MGC17998</Synonym>
+              <Synonym lang="en">MGC23445</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57382">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154803</Reference>
+              </ExternalReference>
+              <ExternalReference id="29486">
+                <Source>Genatlas</Source>
+                <Reference>FLCN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29488">
+                <Source>HGNC</Source>
+                <Reference>27310</Reference>
+              </ExternalReference>
+              <ExternalReference id="29487">
+                <Source>OMIM</Source>
+                <Reference>607273</Reference>
+              </ExternalReference>
+              <ExternalReference id="33069">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFG4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8551">
+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15218">
+            <Name lang="en">ring finger protein 139</Name>
+            <Symbol>RNF139</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HRCA1</Synonym>
+              <Synonym lang="en">RCA1</Synonym>
+              <Synonym lang="en">TRC8</Synonym>
+              <Synonym lang="en">translocation in renal carcinoma, chromosome 8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57810">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170881</Reference>
+              </ExternalReference>
+              <ExternalReference id="36657">
+                <Source>Genatlas</Source>
+                <Reference>RNF139</Reference>
+              </ExternalReference>
+              <ExternalReference id="25466">
+                <Source>HGNC</Source>
+                <Reference>17023</Reference>
+              </ExternalReference>
+              <ExternalReference id="25465">
+                <Source>OMIM</Source>
+                <Reference>603046</Reference>
+              </ExternalReference>
+              <ExternalReference id="33776">
+                <Source>SwissProt</Source>
+                <Reference>Q8WU17</Reference>
+              </ExternalReference>
+              <ExternalReference id="126315">
+                <Source>Reactome</Source>
+                <Reference>Q8WU17</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26615">
+                <GeneLocus>8q24.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16050">
+            <Name lang="en">fragile histidine triad diadenosine triphosphatase</Name>
+            <Symbol>FHIT</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AP3Aase</Synonym>
+              <Synonym lang="en">FRA3B</Synonym>
+              <Synonym lang="en">bis(5'-adenosyl)-triphosphatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57808">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189283</Reference>
+              </ExternalReference>
+              <ExternalReference id="37457">
+                <Source>Genatlas</Source>
+                <Reference>FHIT</Reference>
+              </ExternalReference>
+              <ExternalReference id="29470">
+                <Source>HGNC</Source>
+                <Reference>3701</Reference>
+              </ExternalReference>
+              <ExternalReference id="29469">
+                <Source>OMIM</Source>
+                <Reference>601153</Reference>
+              </ExternalReference>
+              <ExternalReference id="33065">
+                <Source>SwissProt</Source>
+                <Reference>P49789</Reference>
+              </ExternalReference>
+              <ExternalReference id="143908">
+                <Source>Reactome</Source>
+                <Reference>P49789</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>3p14.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12939738[PMID]</SourceOfValidation>
+          <Gene id="16232">
+            <Name lang="en">HSPB1 associated protein 1</Name>
+            <Symbol>HSPBAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22623</Synonym>
+              <Synonym lang="en">PASS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="33296">
+                <Source>SwissProt</Source>
+                <Reference>Q96EW2</Reference>
+              </ExternalReference>
+              <ExternalReference id="57809">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169087</Reference>
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+              <ExternalReference id="37486">
+                <Source>Genatlas</Source>
+                <Reference>HSPBAP1</Reference>
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+              <ExternalReference id="30341">
+                <Source>HGNC</Source>
+                <Reference>16389</Reference>
+              </ExternalReference>
+              <ExternalReference id="30340">
+                <Source>OMIM</Source>
+                <Reference>608263</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12939738[PMID]</SourceOfValidation>
+          <Gene id="21868">
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+            <Symbol>DIRC3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ14199</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83666">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231672</Reference>
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+              <ExternalReference id="77100">
+                <Source>Genatlas</Source>
+                <Reference>DIRC3</Reference>
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+              <ExternalReference id="77098">
+                <Source>HGNC</Source>
+                <Reference>17805</Reference>
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+              <ExternalReference id="77099">
+                <Source>OMIM</Source>
+                <Reference>608262</Reference>
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+              <ExternalReference id="77101">
+                <Source>SwissProt</Source>
+                <Reference>C9JPN6</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="23151">
+      <OrphaCode>423275</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=423275</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 40</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="21727">
+            <Name lang="en">coiled-coil domain containing 88C</Name>
+            <Symbol>CCDC88C</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DAPLE</Synonym>
+              <Synonym lang="en">Dvl-associating protein with a high frequency of leucine residues</Synonym>
+              <Synonym lang="en">HkRP2</Synonym>
+              <Synonym lang="en">SCA40</Synonym>
+              <Synonym lang="en">spinocerebellar ataxia 40</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="76028">
+                <Source>HGNC</Source>
+                <Reference>19967</Reference>
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+              <ExternalReference id="76029">
+                <Source>OMIM</Source>
+                <Reference>611204</Reference>
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+              <ExternalReference id="91599">
+                <Source>Reactome</Source>
+                <Reference>Q9P219</Reference>
+              </ExternalReference>
+              <ExternalReference id="76031">
+                <Source>SwissProt</Source>
+                <Reference>Q9P219</Reference>
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+              <ExternalReference id="83605">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000015133</Reference>
+              </ExternalReference>
+              <ExternalReference id="76030">
+                <Source>Genatlas</Source>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23197">
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+      <Name lang="en">Congenital myopathy with myasthenic-like onset</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24951453[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
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+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
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+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
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+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23196">
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+      <Name lang="en">Colobomatous microphthalmia-rhizomelic dysplasia syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24906020[PMID]</SourceOfValidation>
+          <Gene id="23396">
+            <Name lang="en">mab-21 like 2</Name>
+            <Symbol>MAB21L2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="96471">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181541</Reference>
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+              <ExternalReference id="96469">
+                <Source>Genatlas</Source>
+                <Reference>MAB21L2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6758</Reference>
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+              <ExternalReference id="96468">
+                <Source>OMIM</Source>
+                <Reference>604357</Reference>
+              </ExternalReference>
+              <ExternalReference id="96470">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y586</Reference>
+              </ExternalReference>
+              <ExternalReference id="143976">
+                <Source>Reactome</Source>
+                <Reference>Q9Y586</Reference>
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+              <Locus id="39421">
+                <GeneLocus>4q31.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23198">
+      <OrphaCode>424261</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=424261</ExpertLink>
+      <Name lang="en">TOR1AIP1-related limb-girdle muscular dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24856141[PMID]</SourceOfValidation>
+          <Gene id="23265">
+            <Name lang="en">torsin 1A interacting protein 1</Name>
+            <Symbol>TOR1AIP1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ13142</Synonym>
+              <Synonym lang="en">LAP1</Synonym>
+              <Synonym lang="en">LAP1B</Synonym>
+              <Synonym lang="en">LAP1C</Synonym>
+              <Synonym lang="en">lamina associated polypeptide 1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143337</Reference>
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+              <ExternalReference id="95859">
+                <Source>HGNC</Source>
+                <Reference>29456</Reference>
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+              <ExternalReference id="95860">
+                <Source>OMIM</Source>
+                <Reference>614512</Reference>
+              </ExternalReference>
+              <ExternalReference id="95861">
+                <Source>SwissProt</Source>
+                <Reference>Q5JTV8</Reference>
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+              <ExternalReference id="143958">
+                <Source>Reactome</Source>
+                <Reference>Q5JTV8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="23187">
+      <OrphaCode>424027</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=424027</ExpertLink>
+      <Name lang="en">Progressive myoclonic epilepsy type 8</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24782409[PMID]</SourceOfValidation>
+          <Gene id="23256">
+            <Name lang="en">ceramide synthase 1</Name>
+            <Symbol>CERS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LAG1</Synonym>
+              <Synonym lang="en">UOG1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000223802</Reference>
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+              <ExternalReference id="95784">
+                <Source>Genatlas</Source>
+                <Reference>LASS1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14253</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2474</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606919</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27544</Reference>
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+              <ExternalReference id="95785">
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+                <Reference>P27544</Reference>
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+      <Name lang="en">Microcephaly-complex motor and sensory axonal neuropathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24126608[PMID]</SourceOfValidation>
+          <Gene id="18602">
+            <Name lang="en">VRK serine/threonine kinase 1</Name>
+            <Symbol>VRK1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100749</Reference>
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+              <ExternalReference id="42979">
+                <Source>Genatlas</Source>
+                <Reference>VRK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12718</Reference>
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+              <ExternalReference id="83152">
+                <Source>IUPHAR</Source>
+                <Reference>2275</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q99986</Reference>
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+              <ExternalReference id="42982">
+                <Source>SwissProt</Source>
+                <Reference>Q99986</Reference>
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+                <GeneLocus>14q32.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="23209">
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+      <Name lang="en">STING-associated vasculopathy with onset in infancy</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="23359">
+            <Name lang="en">stimulator of interferon response cGAMP interactor 1</Name>
+            <Symbol>STING1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ERIS</Synonym>
+              <Synonym lang="en">FLJ38577</Synonym>
+              <Synonym lang="en">MITA</Synonym>
+              <Synonym lang="en">MPYS</Synonym>
+              <Synonym lang="en">NET23</Synonym>
+              <Synonym lang="en">STING</Synonym>
+              <Synonym lang="en">endoplasmic reticulum IFN stimulator</Synonym>
+              <Synonym lang="en">stimulator of interferon genes</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96343">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184584</Reference>
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+              <ExternalReference id="96340">
+                <Source>Genatlas</Source>
+                <Reference>TMEM173</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">mitochondrial NAD kinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q4G0N4</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q4G0N4</Reference>
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+      <Name lang="en">X-linked scapuloperoneal muscular dystrophy</Name>
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+            <Name lang="en">four and a half LIM domains 1</Name>
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+              <Synonym lang="en">Four-and-a-half LIM domains 1</Synonym>
+              <Synonym lang="en">KYO-T</Synonym>
+              <Synonym lang="en">LIM protein SLIMMER</Synonym>
+              <Synonym lang="en">MGC111107</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal recessive spastic paraplegia type 57</Name>
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+            <Name lang="en">trafficking from ER to golgi regulator</Name>
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+      <Name lang="en">Scapuloperoneal spinal muscular atrophy</Name>
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+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
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+              <Synonym lang="en">TRP12</Synonym>
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+              <Synonym lang="en">VRL-2</Synonym>
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+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">TNF receptor superfamily member 4</Name>
+            <Symbol>TNFRSF4</Symbol>
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+              <Synonym lang="en">CD134</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Reference>11918</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26424569[PMID]</SourceOfValidation>
+          <Gene id="24612">
+            <Name lang="en">interferon alpha and beta receptor subunit 2</Name>
+            <Symbol>IFNAR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IFNalpha/beta receptor subunit 2</Synonym>
+              <Synonym lang="en">interferon alpha/beta receptor 2</Synonym>
+              <Synonym lang="en">type I interferon receptor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>IFNAR2</Reference>
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+              <ExternalReference id="131429">
+                <Source>HGNC</Source>
+                <Reference>5433</Reference>
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+              <ExternalReference id="133822">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159110</Reference>
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+              <ExternalReference id="143829">
+                <Source>Reactome</Source>
+                <Reference>P48551</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1724</Reference>
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+              <ExternalReference id="132163">
+                <Source>OMIM</Source>
+                <Reference>602376</Reference>
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+              <ExternalReference id="132887">
+                <Source>SwissProt</Source>
+                <Reference>P48551</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23391734[PMID]</SourceOfValidation>
+          <Gene id="23276">
+            <Name lang="en">signal transducer and activator of transcription 2</Name>
+            <Symbol>STAT2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000170581</Reference>
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+              <ExternalReference id="95955">
+                <Source>Genatlas</Source>
+                <Reference>STAT2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11363</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600556</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P52630</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P52630</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Progressive myoclonic epilepsy type 7</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25401298[PMID]</SourceOfValidation>
+          <Gene id="23484">
+            <Name lang="en">potassium voltage-gated channel subfamily C member 1</Name>
+            <Symbol>KCNC1</Symbol>
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+              <Synonym lang="en">Kv3.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
+                <Reference>P48547</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48547</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129159</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KCNC1</Reference>
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+                <Reference>6233</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="23294">
+      <OrphaCode>435387</OrphaCode>
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+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2Y</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25125609[PMID]</SourceOfValidation>
+          <Gene id="15706">
+            <Name lang="en">valosin containing protein</Name>
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+              <Synonym lang="en">CDC48</Synonym>
+              <Synonym lang="en">IBMPFD</Synonym>
+              <Synonym lang="en">TERA</Synonym>
+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165280</Reference>
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+                <Reference>VCP</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">C2 domain containing 3 centriole elongation regulator</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Combined immunodeficiency due to Moesin deficiency</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q02978</Reference>
+              </ExternalReference>
+              <ExternalReference id="158044">
+                <Source>OMIM</Source>
+                <Reference>604165</Reference>
+              </ExternalReference>
+              <ExternalReference id="158045">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A11</Reference>
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+              <ExternalReference id="191546">
+                <Source>IUPHAR</Source>
+                <Reference>1053</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="62501">
+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18334619[PMID]</SourceOfValidation>
+          <Gene id="16304">
+            <Name lang="en">kinesin family member 1B</Name>
+            <Symbol>KIF1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HMSNII</Synonym>
+              <Synonym lang="en">KIAA0591</Synonym>
+              <Synonym lang="en">KLP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100304">
+                <Source>Reactome</Source>
+                <Reference>O60333</Reference>
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+              <ExternalReference id="59967">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054523</Reference>
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+              <ExternalReference id="30683">
+                <Source>Genatlas</Source>
+                <Reference>KIF1B</Reference>
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+              <ExternalReference id="30681">
+                <Source>HGNC</Source>
+                <Reference>16636</Reference>
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+              <ExternalReference id="30680">
+                <Source>OMIM</Source>
+                <Reference>605995</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60333</Reference>
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+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25766404[PMID]</SourceOfValidation>
+          <Gene id="24695">
+            <Name lang="en">malate dehydrogenase 2</Name>
+            <Symbol>MDH2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144111">
+                <Source>Genatlas</Source>
+                <Reference>MDH2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6971</Reference>
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+              <ExternalReference id="134402">
+                <Source>Reactome</Source>
+                <Reference>P40926</Reference>
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+              <ExternalReference id="133518">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146701</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40926</Reference>
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+              <ExternalReference id="132243">
+                <Source>OMIM</Source>
+                <Reference>154100</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31051110[PMID]</SourceOfValidation>
+          <Gene id="26939">
+            <Name lang="en">dihydrolipoamide S-succinyltransferase</Name>
+            <Symbol>DLST</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">2-oxoglutarate dehydrogenase complex component E2</Synonym>
+              <Synonym lang="en">Dihydrolipoyllysine-residue succinyltransferase</Synonym>
+              <Synonym lang="en">KGD2</Synonym>
+              <Synonym lang="en">OGDC-E2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="157643">
+                <Source>HGNC</Source>
+                <Reference>2911</Reference>
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+              <ExternalReference id="191451">
+                <Source>OMIM</Source>
+                <Reference>126063</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P36957</Reference>
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+              <ExternalReference id="162590">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119689</Reference>
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+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23551045[PMID]_24375508[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
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+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
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+              <ExternalReference id="33724">
+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
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+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
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+                <GeneLocus>10q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301715[PMID]</SourceOfValidation>
+          <Gene id="15261">
+            <Name lang="en">succinate dehydrogenase complex flavoprotein subunit A</Name>
+            <Symbol>SDHA</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">SDHF</Synonym>
+              <Synonym lang="en">flavoprotein subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] flavoprotein subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073578</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SDHA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10680</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600857</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P31040</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Symbol>SDHC</Symbol>
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+              <Synonym lang="en">cybL</Synonym>
+              <Synonym lang="en">large subunit of cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrgenase cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrogenase cytochrome b560 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000143252</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q99643</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99643</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301715[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204370</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30536464[PMID]</SourceOfValidation>
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+            <Name lang="en">neurofibromin 1</Name>
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+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9215674[PMID]_19574279[PMID]</SourceOfValidation>
+          <Gene id="15708">
+            <Name lang="en">von Hippel-Lindau tumor suppressor</Name>
+            <Symbol>VHL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VHL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56768">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134086</Reference>
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+              <ExternalReference id="27819">
+                <Source>Genatlas</Source>
+                <Reference>VHL</Reference>
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+              <ExternalReference id="27817">
+                <Source>HGNC</Source>
+                <Reference>12687</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608537</Reference>
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+              <ExternalReference id="56769">
+                <Source>Reactome</Source>
+                <Reference>P40337</Reference>
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+              <ExternalReference id="32680">
+                <Source>SwissProt</Source>
+                <Reference>P40337</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301715[PMID]</SourceOfValidation>
+          <Gene id="18648">
+            <Name lang="en">succinate dehydrogenase complex assembly factor 2</Name>
+            <Symbol>SDHAF2</Symbol>
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+              <Synonym lang="en">FLJ20487</Synonym>
+              <Synonym lang="en">SDH5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58934">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167985</Reference>
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+              <ExternalReference id="46821">
+                <Source>Genatlas</Source>
+                <Reference>SDHAF2</Reference>
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+                <Reference>26034</Reference>
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+                <Reference>613019</Reference>
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+              <ExternalReference id="43042">
+                <Source>SwissProt</Source>
+                <Reference>Q9NX18</Reference>
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+      <Name lang="en">Tyrosinemia type 2</Name>
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+            <Name lang="en">tyrosine aminotransferase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198650</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>613018</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P17735</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P17735</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2527</Reference>
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+      <Name lang="en">Reactive arthritis</Name>
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+          <SourceOfValidation/>
+          <Gene id="16200">
+            <Name lang="en">major histocompatibility complex, class I, B</Name>
+            <Symbol>HLA-B</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000234745</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01889</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P30486</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33014690[PMID]</SourceOfValidation>
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+            <Name lang="en">major histocompatibility complex, class I, B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000234745</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4932</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+    <Disorder id="8776">
+      <OrphaCode>29073</OrphaCode>
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+      <Name lang="en">Multiple myeloma</Name>
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+            <Name lang="en">cyclin D1</Name>
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+              <Synonym lang="en">G1/S-specific cyclin D1</Synonym>
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+      <Name lang="en">Apparent mineralocorticoid excess</Name>
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+            <Name lang="en">hydroxysteroid 11-beta dehydrogenase 2</Name>
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+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2A</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <SourceOfValidation>29403011[PMID]</SourceOfValidation>
+          <Gene id="19025">
+            <Name lang="en">chloride voltage-gated channel 2</Name>
+            <Symbol>CLCN2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CLC2</Synonym>
+              <Synonym lang="en">ClC-2</Synonym>
+              <Synonym lang="en">EJM6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114859</Reference>
+              </ExternalReference>
+              <ExternalReference id="44978">
+                <Source>Genatlas</Source>
+                <Reference>CLCN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="44979">
+                <Source>HGNC</Source>
+                <Reference>2020</Reference>
+              </ExternalReference>
+              <ExternalReference id="83170">
+                <Source>IUPHAR</Source>
+                <Reference>699</Reference>
+              </ExternalReference>
+              <ExternalReference id="44980">
+                <Source>OMIM</Source>
+                <Reference>600570</Reference>
+              </ExternalReference>
+              <ExternalReference id="83169">
+                <Source>Reactome</Source>
+                <Reference>P51788</Reference>
+              </ExternalReference>
+              <ExternalReference id="44981">
+                <Source>SwissProt</Source>
+                <Reference>P51788</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11007">
+                <GeneLocus>3q27.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8748">
+      <OrphaCode>162</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=162</ExpertLink>
+      <Name lang="en">Cataract-glaucoma syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9620774[PMID]</SourceOfValidation>
+          <Gene id="15097">
+            <Name lang="en">paired like homeodomain 3</Name>
+            <Symbol>PITX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58911">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107859</Reference>
+              </ExternalReference>
+              <ExternalReference id="24891">
+                <Source>Genatlas</Source>
+                <Reference>PITX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="24893">
+                <Source>HGNC</Source>
+                <Reference>9006</Reference>
+              </ExternalReference>
+              <ExternalReference id="24892">
+                <Source>OMIM</Source>
+                <Reference>602669</Reference>
+              </ExternalReference>
+              <ExternalReference id="32788">
+                <Source>SwissProt</Source>
+                <Reference>O75364</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6765">
+                <GeneLocus>10q24.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8750">
+      <OrphaCode>545</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=545</ExpertLink>
+      <Name lang="en">Follicular lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23953419[PMID]_22684552[PMID]</SourceOfValidation>
+          <Gene id="15362">
+            <Name lang="en">BCL2 apoptosis regulator</Name>
+            <Symbol>BCL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Bcl-2</Synonym>
+              <Synonym lang="en">PPP1R50</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193671">
+                <Source>IUPHAR</Source>
+                <Reference>2844</Reference>
+              </ExternalReference>
+              <ExternalReference id="58912">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171791</Reference>
+              </ExternalReference>
+              <ExternalReference id="26158">
+                <Source>Genatlas</Source>
+                <Reference>BCL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26156">
+                <Source>HGNC</Source>
+                <Reference>990</Reference>
+              </ExternalReference>
+              <ExternalReference id="26155">
+                <Source>OMIM</Source>
+                <Reference>151430</Reference>
+              </ExternalReference>
+              <ExternalReference id="58913">
+                <Source>Reactome</Source>
+                <Reference>P10415</Reference>
+              </ExternalReference>
+              <ExternalReference id="33919">
+                <Source>SwissProt</Source>
+                <Reference>P10415</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66751">
+                <GeneLocus>18q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23791106[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
+              </ExternalReference>
+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
+              </ExternalReference>
+              <ExternalReference id="30195">
+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
+              </ExternalReference>
+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
+              </ExternalReference>
+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58635">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22968395[PMID]</SourceOfValidation>
+          <Gene id="17194">
+            <Name lang="en">BCL6 transcription repressor</Name>
+            <Symbol>BCL6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL5</Synonym>
+              <Synonym lang="en">BCL6A</Synonym>
+              <Synonym lang="en">LAZ3</Synonym>
+              <Synonym lang="en">ZBTB27</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100314">
+                <Source>Reactome</Source>
+                <Reference>P41182</Reference>
+              </ExternalReference>
+              <ExternalReference id="190434">
+                <Source>IUPHAR</Source>
+                <Reference>2957</Reference>
+              </ExternalReference>
+              <ExternalReference id="58914">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113916</Reference>
+              </ExternalReference>
+              <ExternalReference id="36242">
+                <Source>Genatlas</Source>
+                <Reference>BCL6</Reference>
+              </ExternalReference>
+              <ExternalReference id="36241">
+                <Source>HGNC</Source>
+                <Reference>1001</Reference>
+              </ExternalReference>
+              <ExternalReference id="36239">
+                <Source>OMIM</Source>
+                <Reference>109565</Reference>
+              </ExternalReference>
+              <ExternalReference id="36240">
+                <Source>SwissProt</Source>
+                <Reference>P41182</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60277">
+                <GeneLocus>3q27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23953419[PMID]</SourceOfValidation>
+          <Gene id="18437">
+            <Name lang="en">immunoglobulin heavy locus</Name>
+            <Symbol>IGH</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190453">
+                <Source>OMIM</Source>
+                <Reference>146910</Reference>
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+              <ExternalReference id="190454">
+                <Source>OMIM</Source>
+                <Reference>147010</Reference>
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+              <ExternalReference id="190455">
+                <Source>OMIM</Source>
+                <Reference>147070</Reference>
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+              <ExternalReference id="42206">
+                <Source>Genatlas</Source>
+                <Reference>IGH@</Reference>
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+              <ExternalReference id="42207">
+                <Source>HGNC</Source>
+                <Reference>5477</Reference>
+              </ExternalReference>
+              <ExternalReference id="42208">
+                <Source>SwissProt</Source>
+                <Reference>Q6P089</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60319">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8751">
+      <OrphaCode>88</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88</ExpertLink>
+      <Name lang="en">Idiopathic aplastic anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17311987[PMID]</SourceOfValidation>
+          <Gene id="15136">
+            <Name lang="en">perforin 1</Name>
+            <Symbol>PRF1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HPLH2</Synonym>
+              <Synonym lang="en">P1</Synonym>
+              <Synonym lang="en">PFP</Synonym>
+              <Synonym lang="en">Perforin</Synonym>
+              <Synonym lang="en">perforin 1 (preforming protein)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="193559">
+                <Source>IUPHAR</Source>
+                <Reference>3100</Reference>
+              </ExternalReference>
+              <ExternalReference id="57114">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180644</Reference>
+              </ExternalReference>
+              <ExternalReference id="25083">
+                <Source>Genatlas</Source>
+                <Reference>PRF1</Reference>
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+              <ExternalReference id="25081">
+                <Source>HGNC</Source>
+                <Reference>9360</Reference>
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+              <ExternalReference id="25080">
+                <Source>OMIM</Source>
+                <Reference>170280</Reference>
+              </ExternalReference>
+              <ExternalReference id="33247">
+                <Source>SwissProt</Source>
+                <Reference>P14222</Reference>
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+              <Locus id="66527">
+                <GeneLocus>10q22.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17478638[PMID]</SourceOfValidation>
+          <Gene id="15247">
+            <Name lang="en">SBDS ribosome maturation factor</Name>
+            <Symbol>SBDS</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CGI-97</Synonym>
+              <Synonym lang="en">FLJ10917</Synonym>
+              <Synonym lang="en">SDO1</Synonym>
+              <Synonym lang="en">SDS</Synonym>
+              <Synonym lang="en">SWDS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126524</Reference>
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+              <ExternalReference id="25605">
+                <Source>Genatlas</Source>
+                <Reference>SBDS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19440</Reference>
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+              <ExternalReference id="25602">
+                <Source>OMIM</Source>
+                <Reference>607444</Reference>
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+              <ExternalReference id="33805">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3A5</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15327519[PMID]</SourceOfValidation>
+          <Gene id="16241">
+            <Name lang="en">interferon gamma</Name>
+            <Symbol>IFNG</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58915">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111537</Reference>
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+              <ExternalReference id="37488">
+                <Source>Genatlas</Source>
+                <Reference>IFNG</Reference>
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+              <ExternalReference id="30383">
+                <Source>HGNC</Source>
+                <Reference>5438</Reference>
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+              <ExternalReference id="30382">
+                <Source>OMIM</Source>
+                <Reference>147570</Reference>
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+              <ExternalReference id="58916">
+                <Source>Reactome</Source>
+                <Reference>P01579</Reference>
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+              <ExternalReference id="33305">
+                <Source>SwissProt</Source>
+                <Reference>P01579</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16627250[PMID]_16990594[PMID]</SourceOfValidation>
+          <Gene id="16789">
+            <Name lang="en">telomerase reverse transcriptase</Name>
+            <Symbol>TERT</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EST2</Synonym>
+              <Synonym lang="en">TCS1</Synonym>
+              <Synonym lang="en">TP2</Synonym>
+              <Synonym lang="en">TRT</Synonym>
+              <Synonym lang="en">hEST2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57327">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164362</Reference>
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+              <ExternalReference id="34945">
+                <Source>Genatlas</Source>
+                <Reference>TERT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11730</Reference>
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+              <ExternalReference id="34944">
+                <Source>OMIM</Source>
+                <Reference>187270</Reference>
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+              <ExternalReference id="57328">
+                <Source>Reactome</Source>
+                <Reference>O14746</Reference>
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+              <ExternalReference id="35095">
+                <Source>SwissProt</Source>
+                <Reference>O14746</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12090986[PMID]</SourceOfValidation>
+          <Gene id="16790">
+            <Name lang="en">telomerase RNA component</Name>
+            <Symbol>TERC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">SCARNA19</Synonym>
+              <Synonym lang="en">TR</Synonym>
+              <Synonym lang="en">TRC3</Synonym>
+              <Synonym lang="en">hTR</Synonym>
+              <Synonym lang="en">small Cajal body-specific RNA 19</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="91547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000270141</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TERC</Reference>
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+              <ExternalReference id="34948">
+                <Source>HGNC</Source>
+                <Reference>11727</Reference>
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+              <ExternalReference id="34950">
+                <Source>OMIM</Source>
+                <Reference>602322</Reference>
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+            <LocusList count="1">
+              <Locus id="9699">
+                <GeneLocus>3q26.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="8745">
+      <OrphaCode>824</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=824</ExpertLink>
+      <Name lang="en">Primary myelofibrosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16279">
+            <Name lang="en">Janus kinase 2</Name>
+            <Symbol>JAK2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JTK10</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096968</Reference>
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+                <Reference>6192</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">MPL proto-oncogene, thrombopoietin receptor</Name>
+            <Symbol>MPL</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24325256[PMID]_24325359[PMID]</SourceOfValidation>
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+            <Name lang="en">calreticulin</Name>
+            <Symbol>CALR</Symbol>
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+              <Synonym lang="en">FLJ26680</Synonym>
+              <Synonym lang="en">RO</Synonym>
+              <Synonym lang="en">SSA</Synonym>
+              <Synonym lang="en">Sicca syndrome antigen A (autoantigen Ro; calreticulin)</Synonym>
+              <Synonym lang="en">autoantigen Ro</Synonym>
+              <Synonym lang="en">cC1qR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000179218</Reference>
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+            <Name lang="en">Janus kinase 2</Name>
+            <Symbol>JAK2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">SCAD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122971</Reference>
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+              <ExternalReference id="24733">
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+                <Source>HGNC</Source>
+                <Reference>90</Reference>
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+      <Name lang="en">Autosomal dominant limb-girdle muscular dystrophy type 1A</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16512">
+            <Name lang="en">myotilin</Name>
+            <Symbol>MYOT</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000120729</Reference>
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+      <Name lang="en">Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>SGCG</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">35kD dystrophin-associated glycoprotein</Synonym>
+              <Synonym lang="en">A4</Synonym>
+              <Synonym lang="en">DAGA4</Synonym>
+              <Synonym lang="en">DMDA</Synonym>
+              <Synonym lang="en">MGC130048</Synonym>
+              <Synonym lang="en">Maghrebian myopathy (autosomal recessive)</Synonym>
+              <Synonym lang="en">SCARMD2</Synonym>
+              <Synonym lang="en">SCG3</Synonym>
+              <Synonym lang="en">TYPE</Synonym>
+              <Synonym lang="en">gamma sarcoglycan</Synonym>
+              <Synonym lang="en">limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q13326</Reference>
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+                <Source>Reactome</Source>
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+            <GeneType id="25993">
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+                <Source>Reactome</Source>
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+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8726">
+      <OrphaCode>588</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=588</ExpertLink>
+      <Name lang="en">Muscle-eye-brain disease</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19067344[PMID]</SourceOfValidation>
+          <Gene id="16338">
+            <Name lang="en">LARGE xylosyl- and glucuronyltransferase 1</Name>
+            <Symbol>LARGE1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0609</Synonym>
+              <Synonym lang="en">like-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100306">
+                <Source>Reactome</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+              <ExternalReference id="58894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133424</Reference>
+              </ExternalReference>
+              <ExternalReference id="30840">
+                <Source>Genatlas</Source>
+                <Reference>LARGE</Reference>
+              </ExternalReference>
+              <ExternalReference id="30842">
+                <Source>HGNC</Source>
+                <Reference>6511</Reference>
+              </ExternalReference>
+              <ExternalReference id="30841">
+                <Source>OMIM</Source>
+                <Reference>603590</Reference>
+              </ExternalReference>
+              <ExternalReference id="33403">
+                <Source>SwissProt</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19187">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12788071[PMID]</SourceOfValidation>
+          <Gene id="15121">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)</Name>
+            <Symbol>POMGNT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20277</Synonym>
+              <Synonym lang="en">LGMD2O</Synonym>
+              <Synonym lang="en">MGAT1.2</Synonym>
+              <Synonym lang="en">protein O-mannose beta-1,2-N-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100284">
+                <Source>Reactome</Source>
+                <Reference>Q8WZA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085998</Reference>
+              </ExternalReference>
+              <ExternalReference id="25010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25012">
+                <Source>HGNC</Source>
+                <Reference>19139</Reference>
+              </ExternalReference>
+              <ExternalReference id="25011">
+                <Source>OMIM</Source>
+                <Reference>606822</Reference>
+              </ExternalReference>
+              <ExternalReference id="32812">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZA1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19143">
+                <GeneLocus>1p34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19299310[PMID]_17878207[PMID]</SourceOfValidation>
+          <Gene id="15122">
+            <Name lang="en">protein O-mannosyltransferase 1</Name>
+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
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+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
+              </ExternalReference>
+              <ExternalReference id="25018">
+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
+              </ExternalReference>
+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
+              </ExternalReference>
+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25667">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19299310[PMID]_17878207[PMID]</SourceOfValidation>
+          <Gene id="15123">
+            <Name lang="en">protein O-mannosyltransferase 2</Name>
+            <Symbol>POMT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dolichyl-phosphate-mannose--protein mannosyltransferase</Synonym>
+              <Synonym lang="en">LGMD2N</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100286">
+                <Source>Reactome</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009830</Reference>
+              </ExternalReference>
+              <ExternalReference id="36782">
+                <Source>Genatlas</Source>
+                <Reference>POMT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25021">
+                <Source>HGNC</Source>
+                <Reference>19743</Reference>
+              </ExternalReference>
+              <ExternalReference id="25020">
+                <Source>OMIM</Source>
+                <Reference>607439</Reference>
+              </ExternalReference>
+              <ExternalReference id="33234">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKY4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21057">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17878207[PMID]</SourceOfValidation>
+          <Gene id="16037">
+            <Name lang="en">fukutin</Name>
+            <Symbol>FKTN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGMD2M</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57458">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106692</Reference>
+              </ExternalReference>
+              <ExternalReference id="37036">
+                <Source>Genatlas</Source>
+                <Reference>FKTN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29389">
+                <Source>HGNC</Source>
+                <Reference>3622</Reference>
+              </ExternalReference>
+              <ExternalReference id="29388">
+                <Source>OMIM</Source>
+                <Reference>607440</Reference>
+              </ExternalReference>
+              <ExternalReference id="33051">
+                <Source>SwissProt</Source>
+                <Reference>O75072</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14443">
+                <GeneLocus>9q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15121789[PMID]_19299310[PMID]</SourceOfValidation>
+          <Gene id="16053">
+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="29481">
+                <Source>OMIM</Source>
+                <Reference>606596</Reference>
+              </ExternalReference>
+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
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+              <ExternalReference id="58893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
+              </ExternalReference>
+              <ExternalReference id="29484">
+                <Source>Genatlas</Source>
+                <Reference>FKRP</Reference>
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+              <ExternalReference id="29482">
+                <Source>HGNC</Source>
+                <Reference>17997</Reference>
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+            <LocusList count="1">
+              <Locus id="8549">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23453667[PMID]</SourceOfValidation>
+          <Gene id="21973">
+            <Name lang="en">beta-1,3-N-acetylgalactosaminyltransferase 2</Name>
+            <Symbol>B3GALNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC39558</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126419">
+                <Source>Reactome</Source>
+                <Reference>Q8NCR0</Reference>
+              </ExternalReference>
+              <ExternalReference id="83720">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162885</Reference>
+              </ExternalReference>
+              <ExternalReference id="78209">
+                <Source>Genatlas</Source>
+                <Reference>B3GALNT2</Reference>
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+              <ExternalReference id="78207">
+                <Source>HGNC</Source>
+                <Reference>28596</Reference>
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+              <ExternalReference id="78208">
+                <Source>OMIM</Source>
+                <Reference>610194</Reference>
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+              <ExternalReference id="78210">
+                <Source>SwissProt</Source>
+                <Reference>Q8NCR0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26823">
+                <GeneLocus>1q42.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768512[PMID]</SourceOfValidation>
+          <Gene id="22266">
+            <Name lang="en">GDP-mannose pyrophosphorylase B</Name>
+            <Symbol>GMPPB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1851</Synonym>
+              <Synonym lang="en">mannose-1-phosphate guanyltransferase beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173540</Reference>
+              </ExternalReference>
+              <ExternalReference id="81240">
+                <Source>Genatlas</Source>
+                <Reference>GMPPB</Reference>
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+              <ExternalReference id="81238">
+                <Source>HGNC</Source>
+                <Reference>22932</Reference>
+              </ExternalReference>
+              <ExternalReference id="81239">
+                <Source>OMIM</Source>
+                <Reference>615320</Reference>
+              </ExternalReference>
+              <ExternalReference id="83960">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5P6</Reference>
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+              <ExternalReference id="81241">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5P6</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8725">
+      <OrphaCode>899</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=899</ExpertLink>
+      <Name lang="en">Walker-Warburg syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19299310[PMID]</SourceOfValidation>
+          <Gene id="15121">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)</Name>
+            <Symbol>POMGNT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20277</Synonym>
+              <Synonym lang="en">LGMD2O</Synonym>
+              <Synonym lang="en">MGAT1.2</Synonym>
+              <Synonym lang="en">protein O-mannose beta-1,2-N-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100284">
+                <Source>Reactome</Source>
+                <Reference>Q8WZA1</Reference>
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+              <ExternalReference id="58895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085998</Reference>
+              </ExternalReference>
+              <ExternalReference id="25010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25012">
+                <Source>HGNC</Source>
+                <Reference>19139</Reference>
+              </ExternalReference>
+              <ExternalReference id="25011">
+                <Source>OMIM</Source>
+                <Reference>606822</Reference>
+              </ExternalReference>
+              <ExternalReference id="32812">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZA1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19880378[PMID]</SourceOfValidation>
+          <Gene id="15122">
+            <Name lang="en">protein O-mannosyltransferase 1</Name>
+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
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+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
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+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
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+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
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+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19880378[PMID]</SourceOfValidation>
+          <Gene id="15123">
+            <Name lang="en">protein O-mannosyltransferase 2</Name>
+            <Symbol>POMT2</Symbol>
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+              <Synonym lang="en">Dolichyl-phosphate-mannose--protein mannosyltransferase</Synonym>
+              <Synonym lang="en">LGMD2N</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100286">
+                <Source>Reactome</Source>
+                <Reference>Q9UKY4</Reference>
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+              <ExternalReference id="58897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009830</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>19743</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607439</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UKY4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21625620[PMID]</SourceOfValidation>
+          <Gene id="15771">
+            <Name lang="en">collagen type IV alpha 1 chain</Name>
+            <Symbol>COL4A1</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187498</Reference>
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+              <ExternalReference id="28109">
+                <Source>Genatlas</Source>
+                <Reference>COL4A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2202</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P02462</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02462</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8019">
+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18177472[PMID]_17878207[PMID]</SourceOfValidation>
+          <Gene id="16037">
+            <Name lang="en">fukutin</Name>
+            <Symbol>FKTN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGMD2M</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57458">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106692</Reference>
+              </ExternalReference>
+              <ExternalReference id="37036">
+                <Source>Genatlas</Source>
+                <Reference>FKTN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29389">
+                <Source>HGNC</Source>
+                <Reference>3622</Reference>
+              </ExternalReference>
+              <ExternalReference id="29388">
+                <Source>OMIM</Source>
+                <Reference>607440</Reference>
+              </ExternalReference>
+              <ExternalReference id="33051">
+                <Source>SwissProt</Source>
+                <Reference>O75072</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14443">
+                <GeneLocus>9q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20236121[PMID]</SourceOfValidation>
+          <Gene id="16053">
+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="29481">
+                <Source>OMIM</Source>
+                <Reference>606596</Reference>
+              </ExternalReference>
+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
+              </ExternalReference>
+              <ExternalReference id="58893">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
+              </ExternalReference>
+              <ExternalReference id="29484">
+                <Source>Genatlas</Source>
+                <Reference>FKRP</Reference>
+              </ExternalReference>
+              <ExternalReference id="29482">
+                <Source>HGNC</Source>
+                <Reference>17997</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8549">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21727005[PMID]_19299310[PMID]</SourceOfValidation>
+          <Gene id="16338">
+            <Name lang="en">LARGE xylosyl- and glucuronyltransferase 1</Name>
+            <Symbol>LARGE1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0609</Synonym>
+              <Synonym lang="en">like-acetylglucosaminyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100306">
+                <Source>Reactome</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+              <ExternalReference id="58894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133424</Reference>
+              </ExternalReference>
+              <ExternalReference id="30840">
+                <Source>Genatlas</Source>
+                <Reference>LARGE</Reference>
+              </ExternalReference>
+              <ExternalReference id="30842">
+                <Source>HGNC</Source>
+                <Reference>6511</Reference>
+              </ExternalReference>
+              <ExternalReference id="30841">
+                <Source>OMIM</Source>
+                <Reference>603590</Reference>
+              </ExternalReference>
+              <ExternalReference id="33403">
+                <Source>SwissProt</Source>
+                <Reference>O95461</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19187">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25934851[PMID]</SourceOfValidation>
+          <Gene id="20457">
+            <Name lang="en">dystroglycan 1</Name>
+            <Symbol>DAG1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">156DAG</Synonym>
+              <Synonym lang="en">A3a</Synonym>
+              <Synonym lang="en">AGRNR</Synonym>
+              <Synonym lang="en">DAG</Synonym>
+              <Synonym lang="en">alpha-dystroglycan</Synonym>
+              <Synonym lang="en">beta-dystroglycan</Synonym>
+              <Synonym lang="en">dystrophin-associated glycoprotein-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60554">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173402</Reference>
+              </ExternalReference>
+              <ExternalReference id="54083">
+                <Source>Genatlas</Source>
+                <Reference>DAG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54081">
+                <Source>HGNC</Source>
+                <Reference>2666</Reference>
+              </ExternalReference>
+              <ExternalReference id="54082">
+                <Source>OMIM</Source>
+                <Reference>128239</Reference>
+              </ExternalReference>
+              <ExternalReference id="83213">
+                <Source>Reactome</Source>
+                <Reference>Q14118</Reference>
+              </ExternalReference>
+              <ExternalReference id="54084">
+                <Source>SwissProt</Source>
+                <Reference>Q14118</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25883">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22522420[PMID]</SourceOfValidation>
+          <Gene id="21160">
+            <Name lang="en">CDP-L-ribitol pyrophosphorylase A</Name>
+            <Symbol>CRPPA</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)</Synonym>
+              <Synonym lang="en">D-ribitol-5-phosphate cytidylyltransferase</Synonym>
+              <Synonym lang="en">IspD</Synonym>
+              <Synonym lang="en">Nip</Synonym>
+              <Synonym lang="en">Notch1-induced protein</Synonym>
+              <Synonym lang="en">hCG_1745121</Synonym>
+              <Synonym lang="en">notch1-induced protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="69540">
+                <Source>OMIM</Source>
+                <Reference>614631</Reference>
+              </ExternalReference>
+              <ExternalReference id="69541">
+                <Source>SwissProt</Source>
+                <Reference>A4D126</Reference>
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+              <ExternalReference id="83384">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214960</Reference>
+              </ExternalReference>
+              <ExternalReference id="77057">
+                <Source>Genatlas</Source>
+                <Reference>ISPD</Reference>
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+              <ExternalReference id="77058">
+                <Source>HGNC</Source>
+                <Reference>37276</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11971">
+                <GeneLocus>7p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22958903[PMID]</SourceOfValidation>
+          <Gene id="21416">
+            <Name lang="en">protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)</Name>
+            <Symbol>POMGNT2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AGO61</Synonym>
+              <Synonym lang="en">FLJ14566</Synonym>
+              <Synonym lang="en">protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="70907">
+                <Source>HGNC</Source>
+                <Reference>25902</Reference>
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+              <ExternalReference id="70908">
+                <Source>OMIM</Source>
+                <Reference>614828</Reference>
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+              <ExternalReference id="70909">
+                <Source>SwissProt</Source>
+                <Reference>Q8NAT1</Reference>
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+              <ExternalReference id="83477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144647</Reference>
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+              <ExternalReference id="100010">
+                <Source>Genatlas</Source>
+                <Reference>POMGNT2</Reference>
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+              <ExternalReference id="126411">
+                <Source>Reactome</Source>
+                <Reference>Q8NAT1</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p22.1</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23217329[PMID]_23519211[PMID]</SourceOfValidation>
+          <Gene id="21591">
+            <Name lang="en">ribitol xylosyltransferase 1</Name>
+            <Symbol>RXYLT1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HP10481</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83555">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118600</Reference>
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+              <ExternalReference id="74816">
+                <Source>Genatlas</Source>
+                <Reference>TMEM5</Reference>
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+              <ExternalReference id="74814">
+                <Source>HGNC</Source>
+                <Reference>13530</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605862</Reference>
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+              <ExternalReference id="74817">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2B1</Reference>
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+              <ExternalReference id="143984">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2B1</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23453667[PMID]</SourceOfValidation>
+          <Gene id="21973">
+            <Name lang="en">beta-1,3-N-acetylgalactosaminyltransferase 2</Name>
+            <Symbol>B3GALNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC39558</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126419">
+                <Source>Reactome</Source>
+                <Reference>Q8NCR0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162885</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>B3GALNT2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28596</Reference>
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+                <Source>OMIM</Source>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23359570[PMID]</SourceOfValidation>
+          <Gene id="22031">
+            <Name lang="en">beta-1,4-glucuronyltransferase 1</Name>
+            <Symbol>B4GAT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">B3GN-T1</Synonym>
+              <Synonym lang="en">BETA3GNTI</Synonym>
+              <Synonym lang="en">N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase</Synonym>
+              <Synonym lang="en">iGAT</Synonym>
+              <Synonym lang="en">iGNT</Synonym>
+              <Synonym lang="en">iGnT</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83781">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174684</Reference>
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+              <ExternalReference id="78735">
+                <Source>Genatlas</Source>
+                <Reference>B3GNT1</Reference>
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+              <ExternalReference id="78733">
+                <Source>HGNC</Source>
+                <Reference>15685</Reference>
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+              <ExternalReference id="78734">
+                <Source>OMIM</Source>
+                <Reference>605517</Reference>
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+              <ExternalReference id="83780">
+                <Source>Reactome</Source>
+                <Reference>O43505</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43505</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23519211[PMID]</SourceOfValidation>
+          <Gene id="22090">
+            <Name lang="en">protein O-mannose kinase</Name>
+            <Symbol>POMK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ23356</Synonym>
+              <Synonym lang="en">SGK196</Synonym>
+              <Synonym lang="en">SgK196</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H5K3</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=505216</ExpertLink>
+      <Name lang="en">3-methylglutaconic aciduria type 9</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27573165[PMID]</SourceOfValidation>
+          <Gene id="25584">
+            <Name lang="en">translocase of inner mitochondrial membrane 50</Name>
+            <Symbol>TIMM50</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TIM50</Synonym>
+              <Synonym lang="en">TIM50L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105197</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q3ZCQ8</Reference>
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+              <ExternalReference id="145936">
+                <Source>Genatlas</Source>
+                <Reference>TIMM50</Reference>
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+              <ExternalReference id="189359">
+                <Source>OMIM</Source>
+                <Reference>607381</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q3ZCQ8</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="8724">
+      <OrphaCode>272</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=272</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy, Fukuyama type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301385[PMID]</SourceOfValidation>
+          <Gene id="16037">
+            <Name lang="en">fukutin</Name>
+            <Symbol>FKTN</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000106692</Reference>
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+                <Reference>FKTN</Reference>
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+                <Reference>3622</Reference>
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+                <Reference>O75072</Reference>
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+      <Name lang="en">3-methylglutaconic aciduria type 8</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>HTRA2</Symbol>
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+              <Synonym lang="en">PARK13</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115317</Reference>
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+                <Reference>14348</Reference>
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+            <Symbol>DYSF</Symbol>
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+                <Reference>DYSF</Reference>
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+                <Reference>3097</Reference>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>EXTL3</Reference>
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+              <ExternalReference id="158686">
+                <Source>HGNC</Source>
+                <Reference>3518</Reference>
+              </ExternalReference>
+              <ExternalReference id="158687">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012232</Reference>
+              </ExternalReference>
+              <ExternalReference id="158688">
+                <Source>SwissProt</Source>
+                <Reference>O43909</Reference>
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+              <ExternalReference id="158691">
+                <Source>Reactome</Source>
+                <Reference>O43909</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26578">
+      <OrphaCode>508542</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=508542</ExpertLink>
+      <Name lang="en">Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28115216[PMID]</SourceOfValidation>
+          <Gene id="24731">
+            <Name lang="en">Myb like, SWIRM and MPN domains 1</Name>
+            <Symbol>MYSM1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1915</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="134418">
+                <Source>Reactome</Source>
+                <Reference>Q5VVJ2</Reference>
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+              <ExternalReference id="132279">
+                <Source>OMIM</Source>
+                <Reference>612176</Reference>
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+              <ExternalReference id="131548">
+                <Source>HGNC</Source>
+                <Reference>29401</Reference>
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+              <ExternalReference id="142808">
+                <Source>Genatlas</Source>
+                <Reference>MYSM1</Reference>
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+              <ExternalReference id="133391">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162601</Reference>
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+              <ExternalReference id="132998">
+                <Source>SwissProt</Source>
+                <Reference>Q5VVJ2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>508512</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=508512</ExpertLink>
+      <Name lang="en">Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27977684[PMID]</SourceOfValidation>
+          <Gene id="27164">
+            <Name lang="en">RecQ mediated genome instability 2</Name>
+            <Symbol>RMI2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BLAP18</Synonym>
+              <Synonym lang="en">MGC24665</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="158703">
+                <Source>HGNC</Source>
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+              <ExternalReference id="158704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175643</Reference>
+              </ExternalReference>
+              <ExternalReference id="158705">
+                <Source>SwissProt</Source>
+                <Reference>Q96E14</Reference>
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+              <ExternalReference id="158706">
+                <Source>OMIM</Source>
+                <Reference>612426</Reference>
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+              <ExternalReference id="158707">
+                <Source>Genatlas</Source>
+                <Reference>RMI2</Reference>
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+              <ExternalReference id="158708">
+                <Source>Reactome</Source>
+                <Reference>Q96E14</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30057030[PMID]</SourceOfValidation>
+          <Gene id="27334">
+            <Name lang="en">DNA topoisomerase III alpha</Name>
+            <Symbol>TOP3A</Symbol>
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+              <Synonym lang="en">ZGRF7</Synonym>
+              <Synonym lang="en">zinc finger, GRF-type containing 7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="159252">
+                <Source>Genatlas</Source>
+                <Reference>TOP3A</Reference>
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+              <ExternalReference id="159253">
+                <Source>Reactome</Source>
+                <Reference>Q13472</Reference>
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+              <ExternalReference id="159248">
+                <Source>HGNC</Source>
+                <Reference>11992</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177302</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13472</Reference>
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+                <Reference>601243</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26575">
+      <OrphaCode>508529</OrphaCode>
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+      <Name lang="en">Intermediate epidermolysis bullosa simplex with cardiomyopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID]</SourceOfValidation>
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+            <Name lang="en">kelch like family member 24</Name>
+            <Symbol>KLHL24</Symbol>
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+              <Synonym lang="en">DRE1</Synonym>
+              <Synonym lang="en">FLJ20059</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="158717">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114796</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6TFL4</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611295</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KLHL24</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hyperphenylalaninemia due to DNAJC12 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">J domain protein 1</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108176</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UKB3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">8q24.3 microdeletion syndrome</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179950</Reference>
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+                <Source>Reactome</Source>
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+                <Source>HGNC</Source>
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+      <Name lang="en">Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome</Name>
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+            <Name lang="en">hyaluronidase 2</Name>
+            <Symbol>HYAL2</Symbol>
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+              <Synonym lang="en">lysosomal hyaluronidase</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">intraflagellar transport 57</Name>
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+      <Name lang="en">Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome</Name>
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+            <Name lang="en">poly(U) binding splicing factor 60</Name>
+            <Symbol>PUF60</Symbol>
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+              <Synonym lang="en">FBP interacting repressor</Synonym>
+              <Synonym lang="en">FIR</Synonym>
+              <Synonym lang="en">Ro ribonucleoprotein binding protein 1</Synonym>
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+              <Synonym lang="en">pyrimidine tract binding splicing factor</Synonym>
+              <Synonym lang="en">siah binding protein 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179950</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UHX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17042</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="26390">
+      <OrphaCode>505652</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=505652</ExpertLink>
+      <Name lang="en">CDKL5-deficiency disorder</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22872100[PMID]</SourceOfValidation>
+          <Gene id="15424">
+            <Name lang="en">cyclin dependent kinase like 5</Name>
+            <Symbol>CDKL5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CFAP247</Synonym>
+              <Synonym lang="en">EIEE2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143928">
+                <Source>Reactome</Source>
+                <Reference>O76039</Reference>
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+              <ExternalReference id="32392">
+                <Source>SwissProt</Source>
+                <Reference>O76039</Reference>
+              </ExternalReference>
+              <ExternalReference id="57775">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008086</Reference>
+              </ExternalReference>
+              <ExternalReference id="36382">
+                <Source>Genatlas</Source>
+                <Reference>CDKL5</Reference>
+              </ExternalReference>
+              <ExternalReference id="26451">
+                <Source>HGNC</Source>
+                <Reference>11411</Reference>
+              </ExternalReference>
+              <ExternalReference id="82806">
+                <Source>IUPHAR</Source>
+                <Reference>1986</Reference>
+              </ExternalReference>
+              <ExternalReference id="26450">
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+                <Reference>300203</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp22.13</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="26449">
+      <OrphaCode>506334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=506334</ExpertLink>
+      <Name lang="en">Familial steroid-resistant nephrotic syndrome with adrenal insufficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28181337[PMID]_24777844[PMID]_28218265[PMID]</SourceOfValidation>
+          <Gene id="25622">
+            <Name lang="en">sphingosine-1-phosphate lyase 1</Name>
+            <Symbol>SGPL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SPL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="146342">
+                <Source>SwissProt</Source>
+                <Reference>O95470</Reference>
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+              <ExternalReference id="146343">
+                <Source>OMIM</Source>
+                <Reference>603729</Reference>
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+              <ExternalReference id="146344">
+                <Source>Genatlas</Source>
+                <Reference>SGPL1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95470</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2522</Reference>
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+              <ExternalReference id="146340">
+                <Source>HGNC</Source>
+                <Reference>10817</Reference>
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+              <ExternalReference id="146341">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166224</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26448">
+      <OrphaCode>506307</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=506307</ExpertLink>
+      <Name lang="en">Stromme syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25564561[PMID]_26820108[PMID]</SourceOfValidation>
+          <Gene id="23591">
+            <Name lang="en">centromere protein F</Name>
+            <Symbol>CENPF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">hcp-1</Synonym>
+              <Synonym lang="en">mitosin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="98488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117724</Reference>
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+              <ExternalReference id="98489">
+                <Source>Genatlas</Source>
+                <Reference>CENPF</Reference>
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+              <ExternalReference id="98484">
+                <Source>HGNC</Source>
+                <Reference>1857</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600236</Reference>
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+              <ExternalReference id="98487">
+                <Source>Reactome</Source>
+                <Reference>P49454</Reference>
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+              <ExternalReference id="98486">
+                <Source>SwissProt</Source>
+                <Reference>P49454</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>506358</OrphaCode>
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+      <Name lang="en">Gabriele-de Vries syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">YY1 transcription factor</Name>
+            <Symbol>YY1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DELTA</Synonym>
+              <Synonym lang="en">INO80 complex subunit S</Synonym>
+              <Synonym lang="en">INO80S</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">UCRBP</Synonym>
+              <Synonym lang="en">YIN-YANG-1</Synonym>
+              <Synonym lang="en">Yin and Yang 1 protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="131860">
+                <Source>HGNC</Source>
+                <Reference>12856</Reference>
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+              <ExternalReference id="133307">
+                <Source>SwissProt</Source>
+                <Reference>P25490</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600013</Reference>
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+              <ExternalReference id="133930">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100811</Reference>
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+              <ExternalReference id="134622">
+                <Source>Reactome</Source>
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+                <Source>Genatlas</Source>
+                <Reference>YY1</Reference>
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+      <Name lang="en">Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28052917[PMID]</SourceOfValidation>
+          <Gene id="26794">
+            <Name lang="en">selenoprotein I</Name>
+            <Symbol>SELENOI</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1724</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="157006">
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+              <ExternalReference id="157007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138018</Reference>
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+              <ExternalReference id="157008">
+                <Source>SwissProt</Source>
+                <Reference>Q9C0D9</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9C0D9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 2T</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">membrane metalloendopeptidase</Name>
+            <Symbol>MME</Symbol>
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+              <Synonym lang="en">CALLA</Synonym>
+              <Synonym lang="en">CD10</Synonym>
+              <Synonym lang="en">NEP</Synonym>
+              <Synonym lang="en">enkephalinase</Synonym>
+              <Synonym lang="en">neprilysin</Synonym>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>P08473</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196549</Reference>
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+      <Name lang="en">C11ORF73-related autosomal recessive hypomyelinating leukodystrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="24379">
+            <Name lang="en">heat shock protein nuclear import factor hikeshi</Name>
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+            <SynonymList count="3">
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+              <Synonym lang="en">OPI10</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="134199">
+                <Source>Reactome</Source>
+                <Reference>Q53FT3</Reference>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q53FT3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149196</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614908</Reference>
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+      <Name lang="en">9q33.3q34.11 microdeletion syndrome</Name>
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+          <Gene id="16367">
+            <Name lang="en">LIM homeobox transcription factor 1 beta</Name>
+            <Symbol>LMX1B</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+          <SourceOfValidation>26395556[PMID]</SourceOfValidation>
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+            <Name lang="en">syntaxin binding protein 1</Name>
+            <Symbol>STXBP1</Symbol>
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+              <Synonym lang="en">rbSec1</Synonym>
+              <Synonym lang="en">syntaxin-binding protein 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136854</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11444</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602926</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P61764</Reference>
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+                <Reference>P61764</Reference>
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+      <Name lang="en">Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27807845[PMID]_27666374[PMID]_27666370[PMID]</SourceOfValidation>
+          <Gene id="24967">
+            <Name lang="en">tubulin folding cofactor D</Name>
+            <Symbol>TBCD</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>TBCD</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604649</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BTW9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BTW9</Reference>
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+                <Reference>11581</Reference>
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+              <ExternalReference id="134124">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141556</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25841">
+      <OrphaCode>496686</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=496686</ExpertLink>
+      <Name lang="en">Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>27484770[PMID]_27485408[PMID]</SourceOfValidation>
+          <Gene id="25638">
+            <Name lang="en">kyphoscoliosis peptidase</Name>
+            <Symbol>KY</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ33207</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>26576</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174611</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NBH2</Reference>
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+                <Reference>605739</Reference>
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+      <Name lang="en">Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
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+          <Gene id="25638">
+            <Name lang="en">kyphoscoliosis peptidase</Name>
+            <Symbol>KY</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000174611</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NBH2</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KY</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>496751</OrphaCode>
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+      <Name lang="en">EVEN-plus syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">heat shock protein family A (Hsp70) member 9</Name>
+            <Symbol>HSPA9</Symbol>
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+              <Synonym lang="en">GRP75</Synonym>
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+              <Synonym lang="en">Stress-70 protein, mitochondrial</Synonym>
+              <Synonym lang="en">mortalin</Synonym>
+              <Synonym lang="en">mortalin2</Synonym>
+              <Synonym lang="en">mot-2</Synonym>
+              <Synonym lang="en">mthsp75</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">RERE-related neurodevelopmental syndrome</Name>
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+            <Symbol>RERE</Symbol>
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+              <Synonym lang="en">ARP</Synonym>
+              <Synonym lang="en">ATN2</Synonym>
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+                <Reference>Q9P2R6</Reference>
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+      <Name lang="en">Squamous cell carcinoma of the hypopharynx</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
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+                <Reference>1880</Reference>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">PTEN1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>9588</Reference>
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+                <Reference>P60484</Reference>
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+                <Reference>ENSG00000171862</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="26005">
+      <OrphaCode>500188</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500188</ExpertLink>
+      <Name lang="en">X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28096187[PMID]</SourceOfValidation>
+          <Gene id="26532">
+            <Name lang="en">G protein-coupled receptor associated sorting protein 2</Name>
+            <Symbol>GPRASP2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ37327</Synonym>
+              <Synonym lang="en">GASP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155735">
+                <Source>HGNC</Source>
+                <Reference>25169</Reference>
+              </ExternalReference>
+              <ExternalReference id="155736">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158301</Reference>
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+              <ExternalReference id="155737">
+                <Source>SwissProt</Source>
+                <Reference>Q96D09</Reference>
+              </ExternalReference>
+              <ExternalReference id="189351">
+                <Source>OMIM</Source>
+                <Reference>300969</Reference>
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+              <ExternalReference id="155739">
+                <Source>Genatlas</Source>
+                <Reference>GPRASP2</Reference>
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+              <ExternalReference id="155740">
+                <Source>Reactome</Source>
+                <Reference>Q96D09</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26000">
+      <OrphaCode>500150</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500150</ExpertLink>
+      <Name lang="en">Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27545680[PMID]_27545676[PMID]_27256762[PMID]</SourceOfValidation>
+          <Gene id="24938">
+            <Name lang="en">SON DNA and RNA binding protein</Name>
+            <Symbol>SON</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">BASS1</Synonym>
+              <Synonym lang="en">Bax antagonist selected in Saccharomyces 1</Synonym>
+              <Synonym lang="en">DBP-5</Synonym>
+              <Synonym lang="en">FLJ21099</Synonym>
+              <Synonym lang="en">FLJ33914</Synonym>
+              <Synonym lang="en">KIAA1019</Synonym>
+              <Synonym lang="en">NRE-binding protein</Synonym>
+              <Synonym lang="en">NREBP</Synonym>
+              <Synonym lang="en">negative regulatory element-binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143480">
+                <Source>Genatlas</Source>
+                <Reference>SON</Reference>
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+              <ExternalReference id="133202">
+                <Source>SwissProt</Source>
+                <Reference>P18583</Reference>
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+              <ExternalReference id="133751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159140</Reference>
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+                <Reference>11183</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="26001">
+      <OrphaCode>500159</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500159</ExpertLink>
+      <Name lang="en">Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28886345[PMID]</SourceOfValidation>
+          <Gene id="24845">
+            <Name lang="en">Rac family small GTPase 1</Name>
+            <Symbol>RAC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Rac-1</Synonym>
+              <Synonym lang="en">TC-25</Synonym>
+              <Synonym lang="en">p21-Rac1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
+                <Reference>RAC1</Reference>
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+              <ExternalReference id="133110">
+                <Source>SwissProt</Source>
+                <Reference>P63000</Reference>
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+              <ExternalReference id="133856">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136238</Reference>
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+              <ExternalReference id="134492">
+                <Source>Reactome</Source>
+                <Reference>P63000</Reference>
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+                <Reference>9801</Reference>
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+    <Disorder id="8531">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=302</ExpertLink>
+      <Name lang="en">Epidermodysplasia verruciformis</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>12426567[PMID]</SourceOfValidation>
+          <Gene id="17300">
+            <Name lang="en">transmembrane channel like 6</Name>
+            <Symbol>TMC6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EVIN1</Synonym>
+              <Synonym lang="en">LAK-4P</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58809">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141524</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>18021</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605828</Reference>
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+              <ExternalReference id="36725">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z403</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7Z403</Reference>
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+                <GeneLocus>17q25.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12426567[PMID]</SourceOfValidation>
+          <Gene id="17322">
+            <Name lang="en">transmembrane channel like 8</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">EVIN2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58810">
+                <Source>Ensembl</Source>
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+                <Reference>TMC8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20474</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25981006[PMID]</SourceOfValidation>
+          <Gene id="27944">
+            <Name lang="en">interleukin 7</Name>
+            <Symbol>IL7</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104432</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome</Name>
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+            <Name lang="en">centrosomal protein 55</Name>
+            <Symbol>CEP55</Symbol>
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+              <Synonym lang="en">FLJ10540</Synonym>
+              <Synonym lang="en">cancer/testis antigen 111</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+          <Gene id="26538">
+            <Name lang="en">trafficking protein particle complex subunit 12</Name>
+            <Symbol>TRAPPC12</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CGI-87</Synonym>
+              <Synonym lang="en">TTC-15</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155783">
+                <Source>HGNC</Source>
+                <Reference>24284</Reference>
+              </ExternalReference>
+              <ExternalReference id="155784">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171853</Reference>
+              </ExternalReference>
+              <ExternalReference id="155785">
+                <Source>SwissProt</Source>
+                <Reference>Q8WVT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="155786">
+                <Source>OMIM</Source>
+                <Reference>614139</Reference>
+              </ExternalReference>
+              <ExternalReference id="155787">
+                <Source>Genatlas</Source>
+                <Reference>TRAPPC12</Reference>
+              </ExternalReference>
+              <ExternalReference id="155788">
+                <Source>Reactome</Source>
+                <Reference>Q8WVT3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="44525">
+                <GeneLocus>2p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25993">
+      <OrphaCode>500055</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500055</ExpertLink>
+      <Name lang="en">16p13.2 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26365382[PMID]</SourceOfValidation>
+          <Gene id="25027">
+            <Name lang="en">ubiquitin specific peptidase 7</Name>
+            <Symbol>USP7</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131844">
+                <Source>HGNC</Source>
+                <Reference>12630</Reference>
+              </ExternalReference>
+              <ExternalReference id="133291">
+                <Source>SwissProt</Source>
+                <Reference>Q93009</Reference>
+              </ExternalReference>
+              <ExternalReference id="132563">
+                <Source>OMIM</Source>
+                <Reference>602519</Reference>
+              </ExternalReference>
+              <ExternalReference id="133475">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187555</Reference>
+              </ExternalReference>
+              <ExternalReference id="134611">
+                <Source>Reactome</Source>
+                <Reference>Q93009</Reference>
+              </ExternalReference>
+              <ExternalReference id="143443">
+                <Source>Genatlas</Source>
+                <Reference>USP7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38591">
+                <GeneLocus>16p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25995">
+      <OrphaCode>500095</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500095</ExpertLink>
+      <Name lang="en">Tall stature-intellectual disability-renal anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27183861[PMID]</SourceOfValidation>
+          <Gene id="26540">
+            <Name lang="en">FGF1 intracellular binding protein</Name>
+            <Symbol>FIBP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FGFIBP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155809">
+                <Source>OMIM</Source>
+                <Reference>608296</Reference>
+              </ExternalReference>
+              <ExternalReference id="155806">
+                <Source>HGNC</Source>
+                <Reference>3705</Reference>
+              </ExternalReference>
+              <ExternalReference id="155807">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172500</Reference>
+              </ExternalReference>
+              <ExternalReference id="155808">
+                <Source>SwissProt</Source>
+                <Reference>O43427</Reference>
+              </ExternalReference>
+              <ExternalReference id="155810">
+                <Source>Genatlas</Source>
+                <Reference>FIBP</Reference>
+              </ExternalReference>
+              <ExternalReference id="155811">
+                <Source>Reactome</Source>
+                <Reference>O43427</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="44553">
+                <GeneLocus>11q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25994">
+      <OrphaCode>500062</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500062</ExpertLink>
+      <Name lang="en">Infantile-onset periodic fever-panniculitis-dermatosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27686184[PMID]_27559085[PMID]_27523608[PMID]</SourceOfValidation>
+          <Gene id="26531">
+            <Name lang="en">OTU deubiquitinase with linear linkage specificity</Name>
+            <Symbol>OTULIN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ34884</Synonym>
+              <Synonym lang="en">gumby</Synonym>
+              <Synonym lang="en">ubiquitin thioesterase otulin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155729">
+                <Source>HGNC</Source>
+                <Reference>25118</Reference>
+              </ExternalReference>
+              <ExternalReference id="155730">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154124</Reference>
+              </ExternalReference>
+              <ExternalReference id="155731">
+                <Source>SwissProt</Source>
+                <Reference>Q96BN8</Reference>
+              </ExternalReference>
+              <ExternalReference id="155732">
+                <Source>OMIM</Source>
+                <Reference>615712</Reference>
+              </ExternalReference>
+              <ExternalReference id="155733">
+                <Source>Reactome</Source>
+                <Reference>Q96BN8</Reference>
+              </ExternalReference>
+              <ExternalReference id="190628">
+                <Source>IUPHAR</Source>
+                <Reference>2910</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60665">
+                <GeneLocus>5p15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="8566">
+      <OrphaCode>123</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=123</ExpertLink>
+      <Name lang="en">Björnstad syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17314340[PMID]_24172246[PMID]_24236502[PMID]</SourceOfValidation>
+          <Gene id="15366">
+            <Name lang="en">BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone</Name>
+            <Symbol>BCS1L</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BCS</Synonym>
+              <Synonym lang="en">BJS</Synonym>
+              <Synonym lang="en">Bjornstad syndrome</Synonym>
+              <Synonym lang="en">GRACILE syndrome</Synonym>
+              <Synonym lang="en">Hs.6719</Synonym>
+              <Synonym lang="en">h-BCS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58574">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074582</Reference>
+              </ExternalReference>
+              <ExternalReference id="26176">
+                <Source>Genatlas</Source>
+                <Reference>BCS1L</Reference>
+              </ExternalReference>
+              <ExternalReference id="26174">
+                <Source>HGNC</Source>
+                <Reference>1020</Reference>
+              </ExternalReference>
+              <ExternalReference id="26173">
+                <Source>OMIM</Source>
+                <Reference>603647</Reference>
+              </ExternalReference>
+              <ExternalReference id="58575">
+                <Source>Reactome</Source>
+                <Reference>Q9Y276</Reference>
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+              <ExternalReference id="33923">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y276</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7281">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="8564">
+      <OrphaCode>898</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=898</ExpertLink>
+      <Name lang="en">Wagner disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301747[PMID]</SourceOfValidation>
+          <Gene id="15705">
+            <Name lang="en">versican</Name>
+            <Symbol>VCAN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PG-M</Synonym>
+              <Synonym lang="en">versican proteoglycan</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000038427</Reference>
+              </ExternalReference>
+              <ExternalReference id="36908">
+                <Source>Genatlas</Source>
+                <Reference>VCAN</Reference>
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+              <ExternalReference id="27803">
+                <Source>HGNC</Source>
+                <Reference>2464</Reference>
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+              <ExternalReference id="27802">
+                <Source>OMIM</Source>
+                <Reference>118661</Reference>
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+              <ExternalReference id="82851">
+                <Source>Reactome</Source>
+                <Reference>P13611</Reference>
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+              <ExternalReference id="32677">
+                <Source>SwissProt</Source>
+                <Reference>P13611</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7897">
+                <GeneLocus>5q14.2-q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="26034">
+      <OrphaCode>500478</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500478</ExpertLink>
+      <Name lang="en">Squamous cell carcinoma of the oropharynx</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9721831[PMID]</SourceOfValidation>
+          <Gene id="25279">
+            <Name lang="en">TNF receptor superfamily member 10b</Name>
+            <Symbol>TNFRSF10B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CD262</Synonym>
+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
+              <Synonym lang="en">TRICK2A</Synonym>
+              <Synonym lang="en">TRICKB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="138459">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF10B</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>11905</Reference>
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+              <ExternalReference id="143885">
+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
+              </ExternalReference>
+              <ExternalReference id="143886">
+                <Source>Reactome</Source>
+                <Reference>O14763</Reference>
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+              <ExternalReference id="190734">
+                <Source>IUPHAR</Source>
+                <Reference>1880</Reference>
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+              <ExternalReference id="138457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120889</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>603612</Reference>
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+              <Locus id="60877">
+                <GeneLocus>8p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11801303[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+                <Reference>9588</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PTEN</Reference>
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+                <GeneLocus>10q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10866301[PMID]</SourceOfValidation>
+          <Gene id="16260">
+            <Name lang="en">inhibitor of growth family member 1</Name>
+            <Symbol>ING1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">growth inhibitor ING1</Synonym>
+              <Synonym lang="en">growth inhibitory protein ING1</Synonym>
+              <Synonym lang="en">inhibitor of growth 1</Synonym>
+              <Synonym lang="en">p24ING1c</Synonym>
+              <Synonym lang="en">p33</Synonym>
+              <Synonym lang="en">p33ING1</Synonym>
+              <Synonym lang="en">p33ING1b</Synonym>
+              <Synonym lang="en">p47</Synonym>
+              <Synonym lang="en">p47ING1a</Synonym>
+              <Synonym lang="en">tumor suppressor ING1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153487</Reference>
+              </ExternalReference>
+              <ExternalReference id="37494">
+                <Source>Genatlas</Source>
+                <Reference>ING1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>6062</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>601566</Reference>
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+              <ExternalReference id="33325">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK53</Reference>
+              </ExternalReference>
+              <ExternalReference id="143184">
+                <Source>Reactome</Source>
+                <Reference>Q9UK53</Reference>
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+              <Locus id="38083">
+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    </Disorder>
+    <Disorder id="26035">
+      <OrphaCode>500481</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500481</ExpertLink>
+      <Name lang="en">Squamous cell carcinoma of salivary glands</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25240283[PMID]</SourceOfValidation>
+          <Gene id="23135">
+            <Name lang="en">protein kinase D1</Name>
+            <Symbol>PRKD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PKC-mu</Synonym>
+              <Synonym lang="en">PKCM</Synonym>
+              <Synonym lang="en">PKD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184304</Reference>
+              </ExternalReference>
+              <ExternalReference id="95261">
+                <Source>Genatlas</Source>
+                <Reference>PRKD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="95259">
+                <Source>HGNC</Source>
+                <Reference>9407</Reference>
+              </ExternalReference>
+              <ExternalReference id="95264">
+                <Source>IUPHAR</Source>
+                <Reference>1489</Reference>
+              </ExternalReference>
+              <ExternalReference id="95260">
+                <Source>OMIM</Source>
+                <Reference>605435</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q15139</Reference>
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+              <ExternalReference id="95262">
+                <Source>SwissProt</Source>
+                <Reference>Q15139</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9721831[PMID]</SourceOfValidation>
+          <Gene id="25279">
+            <Name lang="en">TNF receptor superfamily member 10b</Name>
+            <Symbol>TNFRSF10B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CD262</Synonym>
+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
+              <Synonym lang="en">TRICK2A</Synonym>
+              <Synonym lang="en">TRICKB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Reference>TNFRSF10B</Reference>
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+              <ExternalReference id="138460">
+                <Source>HGNC</Source>
+                <Reference>11905</Reference>
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+              <ExternalReference id="143885">
+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
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+              <ExternalReference id="143886">
+                <Source>Reactome</Source>
+                <Reference>O14763</Reference>
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+                <Reference>1880</Reference>
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+              <ExternalReference id="138457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120889</Reference>
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+              <ExternalReference id="138458">
+                <Source>OMIM</Source>
+                <Reference>603612</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11801303[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
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+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>9588</Reference>
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+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+                <Reference>P60484</Reference>
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+                <Reference>ENSG00000171862</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10866301[PMID]</SourceOfValidation>
+          <Gene id="16260">
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+            <Symbol>ING1</Symbol>
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+              <Synonym lang="en">growth inhibitor ING1</Synonym>
+              <Synonym lang="en">growth inhibitory protein ING1</Synonym>
+              <Synonym lang="en">inhibitor of growth 1</Synonym>
+              <Synonym lang="en">p24ING1c</Synonym>
+              <Synonym lang="en">p33</Synonym>
+              <Synonym lang="en">p33ING1</Synonym>
+              <Synonym lang="en">p33ING1b</Synonym>
+              <Synonym lang="en">p47</Synonym>
+              <Synonym lang="en">p47ING1a</Synonym>
+              <Synonym lang="en">tumor suppressor ING1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153487</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6062</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UK53</Reference>
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+              <ExternalReference id="143184">
+                <Source>Reactome</Source>
+                <Reference>Q9UK53</Reference>
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+                <GeneLocus>13q34</GeneLocus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <Name lang="en">Graham Little-Piccardi-Lassueur syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16201">
+            <Name lang="en">major histocompatibility complex, class II, DR alpha</Name>
+            <Symbol>HLA-DRA</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="30192">
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58825">
+                <Source>Reactome</Source>
+                <Reference>P01903</Reference>
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+                <Reference>P01903</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204287</Reference>
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+              <ExternalReference id="37477">
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Woolly hair</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">lysophosphatidic acid receptor 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>28688840[PMID]_27170158[PMID]</SourceOfValidation>
+          <Gene id="25770">
+            <Name lang="en">STE20 related adaptor alpha</Name>
+            <Symbol>STRADA</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">LYK5</Synonym>
+              <Synonym lang="en">NY-BR-96</Synonym>
+              <Synonym lang="en">STE20-like pseudokinase</Synonym>
+              <Synonym lang="en">STRAD</Synonym>
+              <Synonym lang="en">Stlk</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="147208">
+                <Source>HGNC</Source>
+                <Reference>30172</Reference>
+              </ExternalReference>
+              <ExternalReference id="147209">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000266173</Reference>
+              </ExternalReference>
+              <ExternalReference id="147210">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTN6</Reference>
+              </ExternalReference>
+              <ExternalReference id="147212">
+                <Source>Genatlas</Source>
+                <Reference>STRADA</Reference>
+              </ExternalReference>
+              <ExternalReference id="147213">
+                <Source>Reactome</Source>
+                <Reference>Q7RTN6</Reference>
+              </ExternalReference>
+              <ExternalReference id="147468">
+                <Source>IUPHAR</Source>
+                <Reference>2227</Reference>
+              </ExternalReference>
+              <ExternalReference id="189357">
+                <Source>OMIM</Source>
+                <Reference>608626</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58495">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="26041">
+      <OrphaCode>500545</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500545</ExpertLink>
+      <Name lang="en">Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28132692[PMID]</SourceOfValidation>
+          <Gene id="26388">
+            <Name lang="en">nucleus accumbens associated 1</Name>
+            <Symbol>NACC1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BEN domain containing 8</Synonym>
+              <Synonym lang="en">BEND8</Synonym>
+              <Synonym lang="en">BTBD30</Synonym>
+              <Synonym lang="en">NAC-1</Synonym>
+              <Synonym lang="en">NAC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="156973">
+                <Source>HGNC</Source>
+                <Reference>20967</Reference>
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+              <ExternalReference id="156974">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160877</Reference>
+              </ExternalReference>
+              <ExternalReference id="156975">
+                <Source>SwissProt</Source>
+                <Reference>Q96RE7</Reference>
+              </ExternalReference>
+              <ExternalReference id="156976">
+                <Source>OMIM</Source>
+                <Reference>610672</Reference>
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+              <ExternalReference id="156977">
+                <Source>Genatlas</Source>
+                <Reference>NACC1</Reference>
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+              <ExternalReference id="156978">
+                <Source>Reactome</Source>
+                <Reference>Q96RE7</Reference>
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+                <GeneLocus>19p13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="26030">
+      <OrphaCode>500464</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=500464</ExpertLink>
+      <Name lang="en">Squamous cell carcinoma of the nasal cavity and paranasal sinuses</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9721831[PMID]</SourceOfValidation>
+          <Gene id="25279">
+            <Name lang="en">TNF receptor superfamily member 10b</Name>
+            <Symbol>TNFRSF10B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CD262</Synonym>
+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
+              <Synonym lang="en">TRICK2A</Synonym>
+              <Synonym lang="en">TRICKB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="138459">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF10B</Reference>
+              </ExternalReference>
+              <ExternalReference id="138460">
+                <Source>HGNC</Source>
+                <Reference>11905</Reference>
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+              <ExternalReference id="143885">
+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
+              </ExternalReference>
+              <ExternalReference id="143886">
+                <Source>Reactome</Source>
+                <Reference>O14763</Reference>
+              </ExternalReference>
+              <ExternalReference id="190734">
+                <Source>IUPHAR</Source>
+                <Reference>1880</Reference>
+              </ExternalReference>
+              <ExternalReference id="138457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120889</Reference>
+              </ExternalReference>
+              <ExternalReference id="138458">
+                <Source>OMIM</Source>
+                <Reference>603612</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60877">
+                <GeneLocus>8p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11801303[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+              <ExternalReference id="25221">
+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
+              </ExternalReference>
+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
+                <Source>Genatlas</Source>
+                <Reference>PTEN</Reference>
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+            <LocusList count="1">
+              <Locus id="66529">
+                <GeneLocus>10q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10866301[PMID]</SourceOfValidation>
+          <Gene id="16260">
+            <Name lang="en">inhibitor of growth family member 1</Name>
+            <Symbol>ING1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">growth inhibitor ING1</Synonym>
+              <Synonym lang="en">growth inhibitory protein ING1</Synonym>
+              <Synonym lang="en">inhibitor of growth 1</Synonym>
+              <Synonym lang="en">p24ING1c</Synonym>
+              <Synonym lang="en">p33</Synonym>
+              <Synonym lang="en">p33ING1</Synonym>
+              <Synonym lang="en">p33ING1b</Synonym>
+              <Synonym lang="en">p47</Synonym>
+              <Synonym lang="en">p47ING1a</Synonym>
+              <Synonym lang="en">tumor suppressor ING1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153487</Reference>
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+              <ExternalReference id="37494">
+                <Source>Genatlas</Source>
+                <Reference>ING1</Reference>
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+              <ExternalReference id="30471">
+                <Source>HGNC</Source>
+                <Reference>6062</Reference>
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+              <ExternalReference id="30470">
+                <Source>OMIM</Source>
+                <Reference>601566</Reference>
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+              <ExternalReference id="33325">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK53</Reference>
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+              <ExternalReference id="143184">
+                <Source>Reactome</Source>
+                <Reference>Q9UK53</Reference>
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+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="8559">
+      <OrphaCode>520</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=520</ExpertLink>
+      <Name lang="en">Acute promyelocytic leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="13">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10942371[PMID]</SourceOfValidation>
+          <Gene id="15112">
+            <Name lang="en">PML nuclear body scaffold</Name>
+            <Symbol>PML</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MYL</Synonym>
+              <Synonym lang="en">RNF71</Synonym>
+              <Synonym lang="en">TRIM19</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="24964">
+                <Source>Genatlas</Source>
+                <Reference>PML</Reference>
+              </ExternalReference>
+              <ExternalReference id="24966">
+                <Source>HGNC</Source>
+                <Reference>9113</Reference>
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+              <ExternalReference id="24965">
+                <Source>OMIM</Source>
+                <Reference>102578</Reference>
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+              <ExternalReference id="58814">
+                <Source>Reactome</Source>
+                <Reference>P29590</Reference>
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+              <ExternalReference id="32803">
+                <Source>SwissProt</Source>
+                <Reference>P29590</Reference>
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+              <ExternalReference id="58813">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140464</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17712046[PMID]</SourceOfValidation>
+          <Gene id="15139">
+            <Name lang="en">protein kinase cAMP-dependent type I regulatory subunit alpha</Name>
+            <Symbol>PRKAR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CNC1</Synonym>
+              <Synonym lang="en">Carney complex type 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58248">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108946</Reference>
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+              <ExternalReference id="25095">
+                <Source>Genatlas</Source>
+                <Reference>PRKAR1A</Reference>
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+              <ExternalReference id="25097">
+                <Source>HGNC</Source>
+                <Reference>9388</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1472</Reference>
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+                <Source>OMIM</Source>
+                <Reference>188830</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10644</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10942371[PMID]</SourceOfValidation>
+          <Gene id="15188">
+            <Name lang="en">retinoic acid receptor alpha</Name>
+            <Symbol>RARA</Symbol>
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+              <Synonym lang="en">NR1B1</Synonym>
+              <Synonym lang="en">RAR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131759</Reference>
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+                <Reference>9864</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>590</Reference>
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+                <Source>OMIM</Source>
+                <Reference>180240</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P10276</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10276</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">signal transducer and activator of transcription 5B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>STAT5B</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145216</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>19124</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="98058">
+                <Source>Reactome</Source>
+                <Reference>Q6UN15</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6UN15</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17401">
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+              <Synonym lang="en">'nucleophosmin/nucleoplasmin family, member 1'</Synonym>
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+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
+              <Synonym lang="en">Numatrin</Synonym>
+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000181163</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NPM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7910</Reference>
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+              <ExternalReference id="37280">
+                <Source>OMIM</Source>
+                <Reference>164040</Reference>
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+              <ExternalReference id="58812">
+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+              <ExternalReference id="37281">
+                <Source>SwissProt</Source>
+                <Reference>P06748</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10153">
+                <GeneLocus>5q35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23287866[PMID]</SourceOfValidation>
+          <Gene id="21981">
+            <Name lang="en">nucleic acid binding protein 1</Name>
+            <Symbol>NABP1</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">DKFZp667M1322</Synonym>
+              <Synonym lang="en">FLJ13624</Synonym>
+              <Synonym lang="en">FLJ22833</Synonym>
+              <Synonym lang="en">MGC111163</Synonym>
+              <Synonym lang="en">SOSS-B2</Synonym>
+              <Synonym lang="en">SSB2</Synonym>
+              <Synonym lang="en">Sensor of single-strand DNA complex subunit B2</Synonym>
+              <Synonym lang="en">Single-stranded DNA-binding protein 2</Synonym>
+              <Synonym lang="en">hSSB2</Synonym>
+              <Synonym lang="en">sensor of single-strand DNA complex subunit B2</Synonym>
+              <Synonym lang="en">single-stranded DNA-binding protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100343">
+                <Source>Reactome</Source>
+                <Reference>Q96AH0</Reference>
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+              <ExternalReference id="83734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173559</Reference>
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+              <ExternalReference id="100016">
+                <Source>Genatlas</Source>
+                <Reference>NABP1</Reference>
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+              <ExternalReference id="78293">
+                <Source>HGNC</Source>
+                <Reference>26232</Reference>
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+              <ExternalReference id="78294">
+                <Source>OMIM</Source>
+                <Reference>612103</Reference>
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+              <ExternalReference id="78296">
+                <Source>SwissProt</Source>
+                <Reference>Q96AH0</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8387545[PMID]_10942371[PMID]</SourceOfValidation>
+          <Gene id="22649">
+            <Name lang="en">zinc finger and BTB domain containing 16</Name>
+            <Symbol>ZBTB16</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PLZF</Synonym>
+              <Synonym lang="en">promyelocytic leukaemia zinc finger</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109906</Reference>
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+              <ExternalReference id="85839">
+                <Source>Genatlas</Source>
+                <Reference>ZBTB16</Reference>
+              </ExternalReference>
+              <ExternalReference id="85837">
+                <Source>HGNC</Source>
+                <Reference>12930</Reference>
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+              <ExternalReference id="85838">
+                <Source>OMIM</Source>
+                <Reference>176797</Reference>
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+              <ExternalReference id="87622">
+                <Source>Reactome</Source>
+                <Reference>Q05516</Reference>
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+              <ExternalReference id="85840">
+                <Source>SwissProt</Source>
+                <Reference>Q05516</Reference>
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+            <LocusList count="1">
+              <Locus id="23635">
+                <GeneLocus>11q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9288109[PMID]</SourceOfValidation>
+          <Gene id="22650">
+            <Name lang="en">nuclear mitotic apparatus protein 1</Name>
+            <Symbol>NUMA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87625">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137497</Reference>
+              </ExternalReference>
+              <ExternalReference id="85862">
+                <Source>Genatlas</Source>
+                <Reference>NUMA1</Reference>
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+              <ExternalReference id="85860">
+                <Source>HGNC</Source>
+                <Reference>8059</Reference>
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+              <ExternalReference id="85861">
+                <Source>OMIM</Source>
+                <Reference>164009</Reference>
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+              <ExternalReference id="87624">
+                <Source>Reactome</Source>
+                <Reference>Q14980</Reference>
+              </ExternalReference>
+              <ExternalReference id="85863">
+                <Source>SwissProt</Source>
+                <Reference>Q14980</Reference>
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+            </ExternalReferenceList>
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+              <Locus id="16089">
+                <GeneLocus>11q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24782508[PMID]</SourceOfValidation>
+          <Gene id="22998">
+            <Name lang="en">TBL1X/Y related 1</Name>
+            <Symbol>TBL1XR1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C21</Synonym>
+              <Synonym lang="en">DC42</Synonym>
+              <Synonym lang="en">FLJ12894</Synonym>
+              <Synonym lang="en">IRA1</Synonym>
+              <Synonym lang="en">TBLR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="94488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177565</Reference>
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+              <ExternalReference id="94486">
+                <Source>Genatlas</Source>
+                <Reference>TBL1XR1</Reference>
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+              <ExternalReference id="94484">
+                <Source>HGNC</Source>
+                <Reference>29529</Reference>
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+              <ExternalReference id="94485">
+                <Source>OMIM</Source>
+                <Reference>608628</Reference>
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+              <ExternalReference id="94618">
+                <Source>Reactome</Source>
+                <Reference>Q9BZK7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZK7</Reference>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25583766[PMID]_27193600[PMID]</SourceOfValidation>
+          <Gene id="28136">
+            <Name lang="en">interferon regulatory factor 2 binding protein 2</Name>
+            <Symbol>IRF2BP2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IRF-2BP2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
+                <Reference>21729</Reference>
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+              <ExternalReference id="163434">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168264</Reference>
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+              <ExternalReference id="163435">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z5L9</Reference>
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+              <ExternalReference id="163436">
+                <Source>Reactome</Source>
+                <Reference>Q7Z5L9</Reference>
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+              <ExternalReference id="163437">
+                <Source>OMIM</Source>
+                <Reference>615332</Reference>
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+                <GeneLocus>1q42.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29237593[PMID]</SourceOfValidation>
+          <Gene id="16805">
+            <Name lang="en">signal transducer and activator of transcription 3</Name>
+            <Symbol>STAT3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168610</Reference>
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+              <ExternalReference id="35023">
+                <Source>Genatlas</Source>
+                <Reference>STAT3</Reference>
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+              <ExternalReference id="35024">
+                <Source>HGNC</Source>
+                <Reference>11364</Reference>
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+              <ExternalReference id="35026">
+                <Source>OMIM</Source>
+                <Reference>102582</Reference>
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+              <ExternalReference id="57720">
+                <Source>Reactome</Source>
+                <Reference>P40763</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40763</Reference>
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+              <ExternalReference id="190408">
+                <Source>IUPHAR</Source>
+                <Reference>2994</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20807888[PMID]_25790901[PMID]</SourceOfValidation>
+          <Gene id="15364">
+            <Name lang="en">BCL6 corepressor</Name>
+            <Symbol>BCOR</Symbol>
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+              <Synonym lang="en">BCL-6 coreceptor</Synonym>
+              <Synonym lang="en">BCL6 interacting corepressor</Synonym>
+              <Synonym lang="en">FLJ20285</Synonym>
+              <Synonym lang="en">KIAA1575</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143981">
+                <Source>Reactome</Source>
+                <Reference>Q6W2J9</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20893</Reference>
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+              <ExternalReference id="26164">
+                <Source>OMIM</Source>
+                <Reference>300485</Reference>
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+              <ExternalReference id="33921">
+                <Source>SwissProt</Source>
+                <Reference>Q6W2J9</Reference>
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+              <ExternalReference id="57113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183337</Reference>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Squamous cell carcinoma of the oral cavity</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">TNF receptor superfamily member 10b</Name>
+            <Symbol>TNFRSF10B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CD262</Synonym>
+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
+              <Synonym lang="en">TRICK2A</Synonym>
+              <Synonym lang="en">TRICKB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="138459">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF10B</Reference>
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+              <ExternalReference id="138460">
+                <Source>HGNC</Source>
+                <Reference>11905</Reference>
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+              <ExternalReference id="143885">
+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
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+              <ExternalReference id="143886">
+                <Source>Reactome</Source>
+                <Reference>O14763</Reference>
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+              <ExternalReference id="190734">
+                <Source>IUPHAR</Source>
+                <Reference>1880</Reference>
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+              <ExternalReference id="138457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120889</Reference>
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+              <ExternalReference id="138458">
+                <Source>OMIM</Source>
+                <Reference>603612</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11801303[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
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+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10866301[PMID]</SourceOfValidation>
+          <Gene id="16260">
+            <Name lang="en">inhibitor of growth family member 1</Name>
+            <Symbol>ING1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">growth inhibitor ING1</Synonym>
+              <Synonym lang="en">growth inhibitory protein ING1</Synonym>
+              <Synonym lang="en">inhibitor of growth 1</Synonym>
+              <Synonym lang="en">p24ING1c</Synonym>
+              <Synonym lang="en">p33</Synonym>
+              <Synonym lang="en">p33ING1</Synonym>
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+              <Synonym lang="en">p47ING1a</Synonym>
+              <Synonym lang="en">tumor suppressor ING1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153487</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="30471">
+                <Source>HGNC</Source>
+                <Reference>6062</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601566</Reference>
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+              <ExternalReference id="33325">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK53</Reference>
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+              <ExternalReference id="143184">
+                <Source>Reactome</Source>
+                <Reference>Q9UK53</Reference>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=502366</ExpertLink>
+      <Name lang="en">Squamous cell carcinoma of the lip</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">TNF receptor superfamily member 10b</Name>
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+              <Synonym lang="en">DR5</Synonym>
+              <Synonym lang="en">KILLER</Synonym>
+              <Synonym lang="en">TRAIL-R2</Synonym>
+              <Synonym lang="en">TRAILR2</Synonym>
+              <Synonym lang="en">TRICK2A</Synonym>
+              <Synonym lang="en">TRICKB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="138459">
+                <Source>Genatlas</Source>
+                <Reference>TNFRSF10B</Reference>
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+              <ExternalReference id="138460">
+                <Source>HGNC</Source>
+                <Reference>11905</Reference>
+              </ExternalReference>
+              <ExternalReference id="143885">
+                <Source>SwissProt</Source>
+                <Reference>O14763</Reference>
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+              <ExternalReference id="143886">
+                <Source>Reactome</Source>
+                <Reference>O14763</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1880</Reference>
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+              <ExternalReference id="138457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120889</Reference>
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+              <ExternalReference id="138458">
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+                <Reference>603612</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11801303[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10866301[PMID]</SourceOfValidation>
+          <Gene id="16260">
+            <Name lang="en">inhibitor of growth family member 1</Name>
+            <Symbol>ING1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">growth inhibitor ING1</Synonym>
+              <Synonym lang="en">growth inhibitory protein ING1</Synonym>
+              <Synonym lang="en">inhibitor of growth 1</Synonym>
+              <Synonym lang="en">p24ING1c</Synonym>
+              <Synonym lang="en">p33</Synonym>
+              <Synonym lang="en">p33ING1</Synonym>
+              <Synonym lang="en">p33ING1b</Synonym>
+              <Synonym lang="en">p47</Synonym>
+              <Synonym lang="en">p47ING1a</Synonym>
+              <Synonym lang="en">tumor suppressor ING1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153487</Reference>
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+              <ExternalReference id="37494">
+                <Source>Genatlas</Source>
+                <Reference>ING1</Reference>
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+              <ExternalReference id="30471">
+                <Source>HGNC</Source>
+                <Reference>6062</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601566</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UK53</Reference>
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+              <ExternalReference id="143184">
+                <Source>Reactome</Source>
+                <Reference>Q9UK53</Reference>
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+                <GeneLocus>13q34</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26076">
+      <OrphaCode>502423</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=502423</ExpertLink>
+      <Name lang="en">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>28544275[PMID]</SourceOfValidation>
+          <Gene id="26587">
+            <Name lang="en">misato mitochondrial distribution and morphology regulator 1</Name>
+            <Symbol>MSTO1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ10504</Synonym>
+              <Synonym lang="en">LST005</Synonym>
+              <Synonym lang="en">MST</Synonym>
+              <Synonym lang="en">misato</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>29678</Reference>
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+              <ExternalReference id="156028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125459</Reference>
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+              <ExternalReference id="156029">
+                <Source>SwissProt</Source>
+                <Reference>Q9BUK6</Reference>
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+              <ExternalReference id="156030">
+                <Source>OMIM</Source>
+                <Reference>617619</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MSTO1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="26077">
+      <OrphaCode>502430</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=502430</ExpertLink>
+      <Name lang="en">Metopic ridging-ptosis-facial dysmorphism syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28513610[PMID]</SourceOfValidation>
+          <Gene id="26588">
+            <Name lang="en">zinc finger protein 462</Name>
+            <Symbol>ZNF462</Symbol>
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+              <Synonym lang="en">DKFZP762N2316</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148143</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96JM2</Reference>
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+                <Source>OMIM</Source>
+                <Reference>617371</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118007</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Alkaline ceramidase 3 deficiency</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">prokineticin 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000101292</Reference>
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+                <Reference>Q9P2D1</Reference>
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+          <SourceOfValidation>17235395[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
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+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29431">
+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
+              </ExternalReference>
+              <ExternalReference id="82916">
+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26177">
+                <GeneLocus>8p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22918878[PMID]</SourceOfValidation>
+          <Gene id="16154">
+            <Name lang="en">gonadotropin releasing hormone receptor</Name>
+            <Symbol>GNRHR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LHRHR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58858">
+                <Source>Reactome</Source>
+                <Reference>P30968</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P30968</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109163</Reference>
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+              <ExternalReference id="29969">
+                <Source>Genatlas</Source>
+                <Reference>GNRHR</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>256</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21193544[PMID]</SourceOfValidation>
+          <Gene id="16307">
+            <Name lang="en">KISS1 receptor</Name>
+            <Symbol>KISS1R</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AXOR12</Synonym>
+              <Synonym lang="en">HOT7T175</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116014</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KISS1R</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4510</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>266</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604161</Reference>
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+              <ExternalReference id="58861">
+                <Source>Reactome</Source>
+                <Reference>Q969F8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q969F8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16538">
+            <Name lang="en">NMDA receptor synaptonuclear signaling and neuronal migration factor</Name>
+            <Symbol>NSMF</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58425">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165802</Reference>
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+              <ExternalReference id="36978">
+                <Source>Genatlas</Source>
+                <Reference>NELF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29843</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608137</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6X4W1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20887715[PMID]_20389089[PMID]</SourceOfValidation>
+          <Gene id="17372">
+            <Name lang="en">gonadotropin releasing hormone 1</Name>
+            <Symbol>GNRH1</Symbol>
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+              <Synonym lang="en">progonadoliberin-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147437</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GNRH1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4419</Reference>
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+                <Source>OMIM</Source>
+                <Reference>152760</Reference>
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+              <ExternalReference id="58855">
+                <Source>Reactome</Source>
+                <Reference>P01148</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01148</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18596921[PMID]_20463092[PMID]</SourceOfValidation>
+          <Gene id="17965">
+            <Name lang="en">fibroblast growth factor 8</Name>
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+              <Synonym lang="en">AIGF</Synonym>
+              <Synonym lang="en">androgen-induced growth factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107831</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>3686</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P55075</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166863</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58863">
+                <Source>Reactome</Source>
+                <Reference>Q9UHF0</Reference>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">neurokinin beta receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">WD repeat domain 11</Name>
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+              <Synonym lang="en">sensitization to ricin complex subunit 1</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="83844">
+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83846">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139318</Reference>
+              </ExternalReference>
+              <ExternalReference id="79655">
+                <Source>Genatlas</Source>
+                <Reference>DUSP6</Reference>
+              </ExternalReference>
+              <ExternalReference id="79653">
+                <Source>HGNC</Source>
+                <Reference>3072</Reference>
+              </ExternalReference>
+              <ExternalReference id="79654">
+                <Source>OMIM</Source>
+                <Reference>602748</Reference>
+              </ExternalReference>
+              <ExternalReference id="83845">
+                <Source>Reactome</Source>
+                <Reference>Q16828</Reference>
+              </ExternalReference>
+              <ExternalReference id="79656">
+                <Source>SwissProt</Source>
+                <Reference>Q16828</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18561">
+                <GeneLocus>12q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23643382[PMID]</SourceOfValidation>
+          <Gene id="22159">
+            <Name lang="en">sprouty RTK signaling antagonist 4</Name>
+            <Symbol>SPRY4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143149">
+                <Source>Reactome</Source>
+                <Reference>Q9C004</Reference>
+              </ExternalReference>
+              <ExternalReference id="83847">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187678</Reference>
+              </ExternalReference>
+              <ExternalReference id="79664">
+                <Source>Genatlas</Source>
+                <Reference>SPRY4</Reference>
+              </ExternalReference>
+              <ExternalReference id="79662">
+                <Source>HGNC</Source>
+                <Reference>15533</Reference>
+              </ExternalReference>
+              <ExternalReference id="79663">
+                <Source>OMIM</Source>
+                <Reference>607984</Reference>
+              </ExternalReference>
+              <ExternalReference id="79665">
+                <Source>SwissProt</Source>
+                <Reference>Q9C004</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38013">
+                <GeneLocus>5q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8670">
+      <OrphaCode>91</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91</ExpertLink>
+      <Name lang="en">Aromatase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21521281[PMID]</SourceOfValidation>
+          <Gene id="15837">
+            <Name lang="en">cytochrome P450 family 19 subfamily A member 1</Name>
+            <Symbol>CYP19A1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ARO</Synonym>
+              <Synonym lang="en">ARO1</Synonym>
+              <Synonym lang="en">CPV1</Synonym>
+              <Synonym lang="en">CYAR</Synonym>
+              <Synonym lang="en">P-450AROM</Synonym>
+              <Synonym lang="en">aromatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="28425">
+                <Source>OMIM</Source>
+                <Reference>107910</Reference>
+              </ExternalReference>
+              <ExternalReference id="58868">
+                <Source>Reactome</Source>
+                <Reference>P11511</Reference>
+              </ExternalReference>
+              <ExternalReference id="32848">
+                <Source>SwissProt</Source>
+                <Reference>P11511</Reference>
+              </ExternalReference>
+              <ExternalReference id="58867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137869</Reference>
+              </ExternalReference>
+              <ExternalReference id="28424">
+                <Source>Genatlas</Source>
+                <Reference>CYP19A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28426">
+                <Source>HGNC</Source>
+                <Reference>2594</Reference>
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+              <ExternalReference id="82878">
+                <Source>IUPHAR</Source>
+                <Reference>1362</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24799">
+                <GeneLocus>15q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8671">
+      <OrphaCode>785</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=785</ExpertLink>
+      <Name lang="en">Estrogen resistance syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8090165[PMID]_23841731[PMID]</SourceOfValidation>
+          <Gene id="15995">
+            <Name lang="en">estrogen receptor 1</Name>
+            <Symbol>ESR1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">E2 receptor alpha</Synonym>
+              <Synonym lang="en">ER-alpha</Synonym>
+              <Synonym lang="en">Era</Synonym>
+              <Synonym lang="en">NR3A1</Synonym>
+              <Synonym lang="en">estrogen receptor alpha</Synonym>
+              <Synonym lang="en">nuclear receptor subfamily 3 group A member 1</Synonym>
+              <Synonym lang="en">oestrogen receptor alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091831</Reference>
+              </ExternalReference>
+              <ExternalReference id="29184">
+                <Source>Genatlas</Source>
+                <Reference>ESR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29186">
+                <Source>HGNC</Source>
+                <Reference>3467</Reference>
+              </ExternalReference>
+              <ExternalReference id="82903">
+                <Source>IUPHAR</Source>
+                <Reference>620</Reference>
+              </ExternalReference>
+              <ExternalReference id="29185">
+                <Source>OMIM</Source>
+                <Reference>133430</Reference>
+              </ExternalReference>
+              <ExternalReference id="58871">
+                <Source>Reactome</Source>
+                <Reference>P03372</Reference>
+              </ExternalReference>
+              <ExternalReference id="33009">
+                <Source>SwissProt</Source>
+                <Reference>P03372</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20691">
+                <GeneLocus>6q25.1-q25.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="8665">
+      <OrphaCode>873</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=873</ExpertLink>
+      <Name lang="en">Desmoid tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
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+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
+              </ExternalReference>
+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
+              </ExternalReference>
+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16443">
+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP2</Synonym>
+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
+              </ExternalReference>
+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
+              </ExternalReference>
+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
+              </ExternalReference>
+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
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+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
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+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>703</OrphaCode>
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+      <Name lang="en">Bullous pemphigoid</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8710911[PMID]_23806156[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
+              </ExternalReference>
+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
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+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+              <ExternalReference id="30195">
+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
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+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
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+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
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+                <GeneLocus>6p21.32</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8710911[PMID]_23806156[PMID]</SourceOfValidation>
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+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
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+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P01920</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <OrphaCode>841</OrphaCode>
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+      <Name lang="en">Sebocystomatosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16319">
+            <Name lang="en">keratin 17</Name>
+            <Symbol>KRT17</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128422</Reference>
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+              <ExternalReference id="30752">
+                <Source>Genatlas</Source>
+                <Reference>KRT17</Reference>
+              </ExternalReference>
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+                <Reference>6427</Reference>
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+                <Reference>148069</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q04695</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q04695</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Familial multiple trichoepithelioma</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">CYLD lysine 63 deubiquitinase</Name>
+            <Symbol>CYLD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0849</Synonym>
+              <Synonym lang="en">USPL2</Synonym>
+              <Synonym lang="en">ubiquitin specific peptidase like 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000083799</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2584</Reference>
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+                <Reference>605018</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NQC7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQC7</Reference>
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+      <OrphaCode>735</OrphaCode>
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+      <Name lang="en">Porokeratosis of Mibelli</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+            <Name lang="en">mevalonate kinase</Name>
+            <Symbol>MVK</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">LRBP</Synonym>
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+            <Symbol>PMVK</Symbol>
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+      <Name lang="en">Mutilating palmoplantar keratoderma with periorificial keratotic plaques</Name>
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+      <Name lang="en">NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16444271[PMID]</SourceOfValidation>
+          <Gene id="16055">
+            <Name lang="en">filaggrin</Name>
+            <Symbol>FLG</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58850">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143631</Reference>
+              </ExternalReference>
+              <ExternalReference id="29494">
+                <Source>Genatlas</Source>
+                <Reference>FLG</Reference>
+              </ExternalReference>
+              <ExternalReference id="29491">
+                <Source>HGNC</Source>
+                <Reference>3748</Reference>
+              </ExternalReference>
+              <ExternalReference id="29493">
+                <Source>OMIM</Source>
+                <Reference>135940</Reference>
+              </ExternalReference>
+              <ExternalReference id="33070">
+                <Source>SwissProt</Source>
+                <Reference>P20930</Reference>
+              </ExternalReference>
+              <ExternalReference id="126341">
+                <Source>Reactome</Source>
+                <Reference>P20930</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26667">
+                <GeneLocus>1q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8696">
+      <OrphaCode>734</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=734</ExpertLink>
+      <Name lang="en">Alpha delta granule deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28041820[PMID]</SourceOfValidation>
+          <Gene id="22599">
+            <Name lang="en">growth factor independent 1B transcriptional repressor</Name>
+            <Symbol>GFI1B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ZNF163B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="85389">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165702</Reference>
+              </ExternalReference>
+              <ExternalReference id="85350">
+                <Source>Genatlas</Source>
+                <Reference>GFI1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="85348">
+                <Source>HGNC</Source>
+                <Reference>4238</Reference>
+              </ExternalReference>
+              <ExternalReference id="85349">
+                <Source>OMIM</Source>
+                <Reference>604383</Reference>
+              </ExternalReference>
+              <ExternalReference id="85351">
+                <Source>SwissProt</Source>
+                <Reference>Q5VTD9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143519">
+                <Source>Reactome</Source>
+                <Reference>Q5VTD9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38735">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8697">
+      <OrphaCode>721</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=721</ExpertLink>
+      <Name lang="en">Gray platelet syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21765411[PMID]_21765412[PMID]</SourceOfValidation>
+          <Gene id="20394">
+            <Name lang="en">neurobeachin like 2</Name>
+            <Symbol>NBEAL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0540</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126402">
+                <Source>Reactome</Source>
+                <Reference>Q6ZNJ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58888">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160796</Reference>
+              </ExternalReference>
+              <ExternalReference id="84660">
+                <Source>Genatlas</Source>
+                <Reference>NBEAL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="53859">
+                <Source>HGNC</Source>
+                <Reference>31928</Reference>
+              </ExternalReference>
+              <ExternalReference id="53861">
+                <Source>OMIM</Source>
+                <Reference>614169</Reference>
+              </ExternalReference>
+              <ExternalReference id="53860">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZNJ1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26789">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8694">
+      <OrphaCode>722</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=722</ExpertLink>
+      <Name lang="en">Hypoplasminogenemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16849641[PMID]</SourceOfValidation>
+          <Gene id="15108">
+            <Name lang="en">plasminogen</Name>
+            <Symbol>PLG</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58885">
+                <Source>Reactome</Source>
+                <Reference>P00747</Reference>
+              </ExternalReference>
+              <ExternalReference id="32799">
+                <Source>SwissProt</Source>
+                <Reference>P00747</Reference>
+              </ExternalReference>
+              <ExternalReference id="58884">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122194</Reference>
+              </ExternalReference>
+              <ExternalReference id="24944">
+                <Source>Genatlas</Source>
+                <Reference>PLG</Reference>
+              </ExternalReference>
+              <ExternalReference id="24946">
+                <Source>HGNC</Source>
+                <Reference>9071</Reference>
+              </ExternalReference>
+              <ExternalReference id="82741">
+                <Source>IUPHAR</Source>
+                <Reference>2394</Reference>
+              </ExternalReference>
+              <ExternalReference id="24945">
+                <Source>OMIM</Source>
+                <Reference>173350</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="6785">
+                <GeneLocus>6q26</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="8695">
+      <OrphaCode>749</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=749</ExpertLink>
+      <Name lang="en">Congenital prekallikrein deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15461630[PMID]_20301226[PMID]</SourceOfValidation>
+          <Gene id="16310">
+            <Name lang="en">kallikrein B1</Name>
+            <Symbol>KLKB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Fletcher factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58886">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164344</Reference>
+              </ExternalReference>
+              <ExternalReference id="30711">
+                <Source>Genatlas</Source>
+                <Reference>KLKB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30709">
+                <Source>HGNC</Source>
+                <Reference>6371</Reference>
+              </ExternalReference>
+              <ExternalReference id="82977">
+                <Source>IUPHAR</Source>
+                <Reference>2379</Reference>
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+              <ExternalReference id="30708">
+                <Source>OMIM</Source>
+                <Reference>229000</Reference>
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+              <ExternalReference id="58887">
+                <Source>Reactome</Source>
+                <Reference>P03952</Reference>
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+              <ExternalReference id="33375">
+                <Source>SwissProt</Source>
+                <Reference>P03952</Reference>
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+            <LocusList count="1">
+              <Locus id="21275">
+                <GeneLocus>4q35.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="8692">
+      <OrphaCode>853</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=853</ExpertLink>
+      <Name lang="en">Fetal and neonatal alloimmune thrombocytopenia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16157">
+            <Name lang="en">glycoprotein Ib platelet subunit alpha</Name>
+            <Symbol>GP1BA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD42b</Synonym>
+              <Synonym lang="en">GPIbalpha</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib alpha chain</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57691">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185245</Reference>
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+              <ExternalReference id="29986">
+                <Source>Genatlas</Source>
+                <Reference>GP1BA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29984">
+                <Source>HGNC</Source>
+                <Reference>4439</Reference>
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+              <ExternalReference id="29983">
+                <Source>OMIM</Source>
+                <Reference>606672</Reference>
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+              <ExternalReference id="57692">
+                <Source>Reactome</Source>
+                <Reference>P07359</Reference>
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+              <ExternalReference id="33176">
+                <Source>SwissProt</Source>
+                <Reference>P07359</Reference>
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+                <GeneLocus>17p13.2</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16158">
+            <Name lang="en">glycoprotein Ib platelet subunit beta</Name>
+            <Symbol>GP1BB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD42c</Synonym>
+              <Synonym lang="en">GPIbbeta</Synonym>
+              <Synonym lang="en">platelet glycoprotein Ib beta chain</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203618</Reference>
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+              <ExternalReference id="29988">
+                <Source>Genatlas</Source>
+                <Reference>GP1BB</Reference>
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+              <ExternalReference id="29990">
+                <Source>HGNC</Source>
+                <Reference>4440</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138720</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13224</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13224</Reference>
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+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16271">
+            <Name lang="en">integrin subunit alpha 2b</Name>
+            <Symbol>ITGA2B</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD41</Synonym>
+              <Synonym lang="en">CD41B</Synonym>
+              <Synonym lang="en">PPP1R93</Synonym>
+              <Synonym lang="en">platelet glycoprotein IIb of IIb/IIIa complex</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 93</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005961</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ITGA2B</Reference>
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+              <ExternalReference id="30520">
+                <Source>HGNC</Source>
+                <Reference>6138</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607759</Reference>
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+              <ExternalReference id="58590">
+                <Source>Reactome</Source>
+                <Reference>P08514</Reference>
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+              <ExternalReference id="33336">
+                <Source>SwissProt</Source>
+                <Reference>P08514</Reference>
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+              <ExternalReference id="193577">
+                <Source>IUPHAR</Source>
+                <Reference>2441</Reference>
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+                <GeneLocus>17q21.31</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19821948[PMID]</SourceOfValidation>
+          <Gene id="16274">
+            <Name lang="en">integrin subunit beta 3</Name>
+            <Symbol>ITGB3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CD61</Synonym>
+              <Synonym lang="en">GPIIIa</Synonym>
+              <Synonym lang="en">antigen CD61</Synonym>
+              <Synonym lang="en">platelet glycoprotein IIIa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000259207</Reference>
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+              <ExternalReference id="30534">
+                <Source>Genatlas</Source>
+                <Reference>ITGB3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6156</Reference>
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+                <Source>OMIM</Source>
+                <Reference>173470</Reference>
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+              <ExternalReference id="58592">
+                <Source>Reactome</Source>
+                <Reference>P05106</Reference>
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+              <ExternalReference id="33339">
+                <Source>SwissProt</Source>
+                <Reference>P05106</Reference>
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+              <ExternalReference id="193581">
+                <Source>IUPHAR</Source>
+                <Reference>2457</Reference>
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+                <GeneLocus>17q21.32</GeneLocus>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21897">
+            <Name lang="en">integrin subunit alpha 2</Name>
+            <Symbol>ITGA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">alpha 2 subunit of VLA-2 receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P17301</Reference>
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+              <ExternalReference id="77828">
+                <Source>SwissProt</Source>
+                <Reference>P17301</Reference>
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+              <ExternalReference id="83708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164171</Reference>
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+              <ExternalReference id="77827">
+                <Source>Genatlas</Source>
+                <Reference>ITGA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6137</Reference>
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+              <ExternalReference id="77826">
+                <Source>OMIM</Source>
+                <Reference>192974</Reference>
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+              <ExternalReference id="190495">
+                <Source>IUPHAR</Source>
+                <Reference>2440</Reference>
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+                <GeneLocus>5q11.2</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="21898">
+            <Name lang="en">CD109 molecule</Name>
+            <Symbol>CD109</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CPAMD7</Synonym>
+              <Synonym lang="en">DKFZp762L1111</Synonym>
+              <Synonym lang="en">FLJ38569</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83709">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156535</Reference>
+              </ExternalReference>
+              <ExternalReference id="77832">
+                <Source>Genatlas</Source>
+                <Reference>CD109</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21685</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608859</Reference>
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+              <ExternalReference id="77833">
+                <Source>SwissProt</Source>
+                <Reference>Q6YHK3</Reference>
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+              <ExternalReference id="126418">
+                <Source>Reactome</Source>
+                <Reference>Q6YHK3</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="8693">
+      <OrphaCode>483</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=483</ExpertLink>
+      <Name lang="en">Congenital high-molecular-weight kininogen deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17522339[PMID]</SourceOfValidation>
+          <Gene id="16311">
+            <Name lang="en">kininogen 1</Name>
+            <Symbol>KNG1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BK</Synonym>
+              <Synonym lang="en">alpha-2-thiol proteinase inhibitor</Synonym>
+              <Synonym lang="en">bradykinin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58882">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113889</Reference>
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+              <ExternalReference id="37502">
+                <Source>Genatlas</Source>
+                <Reference>KNG1</Reference>
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+              <ExternalReference id="30714">
+                <Source>HGNC</Source>
+                <Reference>6383</Reference>
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+              <ExternalReference id="39833">
+                <Source>OMIM</Source>
+                <Reference>612358</Reference>
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+              <ExternalReference id="58883">
+                <Source>Reactome</Source>
+                <Reference>P01042</Reference>
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+              <ExternalReference id="33376">
+                <Source>SwissProt</Source>
+                <Reference>P01042</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25908">
+      <OrphaCode>498359</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=498359</ExpertLink>
+      <Name lang="en">Aquagenic palmoplantar keratoderma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="15441">
+            <Name lang="en">CF transmembrane conductance regulator</Name>
+            <Symbol>CFTR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABC35</Synonym>
+              <Synonym lang="en">ATP-binding cassette sub-family C, member 7</Synonym>
+              <Synonym lang="en">CFTR/MRP</Synonym>
+              <Synonym lang="en">MRP7</Synonym>
+              <Synonym lang="en">TNR-CFTR</Synonym>
+              <Synonym lang="en">dJ760C5.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56733">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000001626</Reference>
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+              <ExternalReference id="26534">
+                <Source>Genatlas</Source>
+                <Reference>CFTR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1884</Reference>
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+              <ExternalReference id="82808">
+                <Source>IUPHAR</Source>
+                <Reference>707</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602421</Reference>
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+              <ExternalReference id="56734">
+                <Source>Reactome</Source>
+                <Reference>P13569</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13569</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">X-linked thrombocytopenia with normal platelets</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">WASP actin nucleation promoting factor</Name>
+            <Symbol>WAS</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56864">
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+                <Reference>ENSG00000015285</Reference>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="56865">
+                <Source>Reactome</Source>
+                <Reference>P42768</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42768</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18929244[PMID]_18378609[PMID]_24582607[PMID]</SourceOfValidation>
+          <Gene id="15254">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 5</Name>
+            <Symbol>SCN5A</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">CDCD2</Synonym>
+              <Synonym lang="en">CMPD2</Synonym>
+              <Synonym lang="en">HB1</Synonym>
+              <Synonym lang="en">HB2</Synonym>
+              <Synonym lang="en">HBBD</Synonym>
+              <Synonym lang="en">HH1</Synonym>
+              <Synonym lang="en">ICCD</Synonym>
+              <Synonym lang="en">IVF</Synonym>
+              <Synonym lang="en">LQT3</Synonym>
+              <Synonym lang="en">Nav1.5</Synonym>
+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25637">
+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
+              </ExternalReference>
+              <ExternalReference id="82772">
+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
+              </ExternalReference>
+              <ExternalReference id="25636">
+                <Source>OMIM</Source>
+                <Reference>600163</Reference>
+              </ExternalReference>
+              <ExternalReference id="57473">
+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
+              </ExternalReference>
+              <ExternalReference id="33812">
+                <Source>SwissProt</Source>
+                <Reference>Q14524</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23605">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21708142[PMID]_21874226[PMID]_22552926[PMID]</SourceOfValidation>
+          <Gene id="16104">
+            <Name lang="en">GATA binding protein 4</Name>
+            <Symbol>GATA4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136574</Reference>
+              </ExternalReference>
+              <ExternalReference id="29724">
+                <Source>Genatlas</Source>
+                <Reference>GATA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="29726">
+                <Source>HGNC</Source>
+                <Reference>4173</Reference>
+              </ExternalReference>
+              <ExternalReference id="29725">
+                <Source>OMIM</Source>
+                <Reference>600576</Reference>
+              </ExternalReference>
+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+              <ExternalReference id="33119">
+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25853">
+                <GeneLocus>8p23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22471742[PMID]</SourceOfValidation>
+          <Gene id="16286">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 1</Name>
+            <Symbol>KCNE1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ISK</Synonym>
+              <Synonym lang="en">IsK</Synonym>
+              <Synonym lang="en">JLNS2</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 2</Synonym>
+              <Synonym lang="en">LQT5</Synonym>
+              <Synonym lang="en">Long QT syndrome 5</Synonym>
+              <Synonym lang="en">minK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98060">
+                <Source>Reactome</Source>
+                <Reference>P15382</Reference>
+              </ExternalReference>
+              <ExternalReference id="33351">
+                <Source>SwissProt</Source>
+                <Reference>P15382</Reference>
+              </ExternalReference>
+              <ExternalReference id="59633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180509</Reference>
+              </ExternalReference>
+              <ExternalReference id="30596">
+                <Source>Genatlas</Source>
+                <Reference>KCNE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30594">
+                <Source>HGNC</Source>
+                <Reference>6240</Reference>
+              </ExternalReference>
+              <ExternalReference id="30593">
+                <Source>OMIM</Source>
+                <Reference>176261</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20861">
+                <GeneLocus>21q22.12</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15368194[PMID]</SourceOfValidation>
+          <Gene id="16288">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 2</Name>
+            <Symbol>KCNE2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LQT6</Synonym>
+              <Synonym lang="en">MiRP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58836">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159197</Reference>
+              </ExternalReference>
+              <ExternalReference id="30605">
+                <Source>Genatlas</Source>
+                <Reference>KCNE2</Reference>
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+              <ExternalReference id="30603">
+                <Source>HGNC</Source>
+                <Reference>6242</Reference>
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+              <ExternalReference id="30602">
+                <Source>OMIM</Source>
+                <Reference>603796</Reference>
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+              <ExternalReference id="98062">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6J6</Reference>
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+              <ExternalReference id="33353">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6J6</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>21q22.11</GeneLocus>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15922306[PMID]</SourceOfValidation>
+          <Gene id="16293">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 2</Name>
+            <Symbol>KCNJ2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IRK1</Synonym>
+              <Synonym lang="en">Kir2.1</Synonym>
+              <Synonym lang="en">LQT7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58834">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123700</Reference>
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+              <ExternalReference id="30627">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6263</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>430</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600681</Reference>
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+              <ExternalReference id="58835">
+                <Source>Reactome</Source>
+                <Reference>P63252</Reference>
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+              <ExternalReference id="33358">
+                <Source>SwissProt</Source>
+                <Reference>P63252</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q24.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12522251[PMID]_22471742[PMID]</SourceOfValidation>
+          <Gene id="16295">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 1</Name>
+            <Symbol>KCNQ1</Symbol>
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+              <Synonym lang="en">JLNS1</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 1</Synonym>
+              <Synonym lang="en">KCNA8</Synonym>
+              <Synonym lang="en">KVLQT1</Synonym>
+              <Synonym lang="en">Kv7.1</Synonym>
+              <Synonym lang="en">LQT1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000053918</Reference>
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+              <ExternalReference id="30637">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>560</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58839">
+                <Source>Reactome</Source>
+                <Reference>P51787</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51787</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23525379[PMID]_22818067[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
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+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20650941[PMID]</SourceOfValidation>
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+            <Name lang="en">gap junction protein alpha 5</Name>
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+              <Synonym lang="en">connexin 40</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000265107</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">myosin light chain 4</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155657</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25319568[PMID]</SourceOfValidation>
+          <Gene id="17359">
+            <Name lang="en">NK2 homeobox 6</Name>
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+            <SynonymList count="4">
+              <Synonym lang="en">CSX2</Synonym>
+              <Synonym lang="en">NKX4-2</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="37018">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-6</Reference>
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+              <ExternalReference id="37019">
+                <Source>HGNC</Source>
+                <Reference>32940</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611770</Reference>
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+              <ExternalReference id="37021">
+                <Source>SwissProt</Source>
+                <Reference>A6NCS4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180053</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23604097[PMID]</SourceOfValidation>
+          <Gene id="17441">
+            <Name lang="en">sodium voltage-gated channel beta subunit 4</Name>
+            <Symbol>SCN4B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LQT10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97261">
+                <Source>Reactome</Source>
+                <Reference>Q8IWT1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IWT1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177098</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19343045[PMID]_16772329[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130037</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">nucleoporin 155</Name>
+            <Symbol>NUP155</Symbol>
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+              <Synonym lang="en">KIAA0791</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="18488">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>7549</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160794</Reference>
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+              <ExternalReference id="57252">
+                <Source>Reactome</Source>
+                <Reference>Q00872</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Marie Unna hereditary hypotrichosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23099647[PMID]</SourceOfValidation>
+          <Gene id="21724">
+            <Name lang="en">EPS8 like 3</Name>
+            <Symbol>EPS8L3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ21522</Synonym>
+              <Synonym lang="en">MGC16817</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="83601">
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+                <Reference>ENSG00000198758</Reference>
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+              <ExternalReference id="75997">
+                <Source>Genatlas</Source>
+                <Reference>EPS8L3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21297</Reference>
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+                <Reference>614989</Reference>
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+                <Reference>Q8TE67</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19122663[PMID]</SourceOfValidation>
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+            <Name lang="en">HR lysine demethylase and nuclear receptor corepressor</Name>
+            <Symbol>HR</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168453</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HR</Reference>
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+                <Reference>O43593</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">LRP5-related primary osteoporosis</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15824851[PMID]</SourceOfValidation>
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+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
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+              <Synonym lang="en">HBM</Synonym>
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+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58281">
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+                <Reference>ENSG00000162337</Reference>
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+              <ExternalReference id="31002">
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+                <Reference>LRP5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
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+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
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+                <Reference>O75197</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15824851[PMID]_22487062[PMID]</SourceOfValidation>
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+              <Synonym lang="en">OPTA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">keratin 86</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29409814[PMID]</SourceOfValidation>
+          <Gene id="20724">
+            <Name lang="en">SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1</Name>
+            <Symbol>SMARCAD1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP762K2015</Synonym>
+              <Synonym lang="en">DKFZp762K2015</Synonym>
+              <Synonym lang="en">ETL1</Synonym>
+              <Synonym lang="en">KIAA1122</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60617">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163104</Reference>
+              </ExternalReference>
+              <ExternalReference id="55777">
+                <Source>Genatlas</Source>
+                <Reference>SMARCAD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="55775">
+                <Source>HGNC</Source>
+                <Reference>18398</Reference>
+              </ExternalReference>
+              <ExternalReference id="55776">
+                <Source>OMIM</Source>
+                <Reference>612761</Reference>
+              </ExternalReference>
+              <ExternalReference id="55778">
+                <Source>SwissProt</Source>
+                <Reference>Q9H4L7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14533">
+                <GeneLocus>4q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="8626">
+      <OrphaCode>41</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=41</ExpertLink>
+      <Name lang="en">Dyschromatosis symmetrica hereditaria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12916015[PMID]</SourceOfValidation>
+          <Gene id="15467">
+            <Name lang="en">adenosine deaminase RNA specific</Name>
+            <Symbol>ADAR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ADAR1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58844">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160710</Reference>
+              </ExternalReference>
+              <ExternalReference id="26667">
+                <Source>Genatlas</Source>
+                <Reference>ADAR</Reference>
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+              <ExternalReference id="26665">
+                <Source>HGNC</Source>
+                <Reference>225</Reference>
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+              <ExternalReference id="70285">
+                <Source>OMIM</Source>
+                <Reference>146920</Reference>
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+              <ExternalReference id="58845">
+                <Source>Reactome</Source>
+                <Reference>P55265</Reference>
+              </ExternalReference>
+              <ExternalReference id="32438">
+                <Source>SwissProt</Source>
+                <Reference>P55265</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7459">
+                <GeneLocus>1q21.3</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="8627">
+      <OrphaCode>122</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=122</ExpertLink>
+      <Name lang="en">Birt-Hogg-Dubé syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301695[PMID]</SourceOfValidation>
+          <Gene id="16054">
+            <Name lang="en">folliculin</Name>
+            <Symbol>FLCN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BHD</Synonym>
+              <Synonym lang="en">DENND8B</Synonym>
+              <Synonym lang="en">MGC17998</Synonym>
+              <Synonym lang="en">MGC23445</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57382">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154803</Reference>
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+              <ExternalReference id="29486">
+                <Source>Genatlas</Source>
+                <Reference>FLCN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29488">
+                <Source>HGNC</Source>
+                <Reference>27310</Reference>
+              </ExternalReference>
+              <ExternalReference id="29487">
+                <Source>OMIM</Source>
+                <Reference>607273</Reference>
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+              <ExternalReference id="33069">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFG4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8551">
+                <GeneLocus>17p11.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="8630">
+      <OrphaCode>241</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=241</ExpertLink>
+      <Name lang="en">Dyschromatosis universalis hereditaria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23519333[PMID]</SourceOfValidation>
+          <Gene id="20790">
+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
+            <Symbol>ABCB6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-binding cassette half-transporter</Synonym>
+              <Synonym lang="en">EST45597</Synonym>
+              <Synonym lang="en">MTABC3</Synonym>
+              <Synonym lang="en">umat</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115657</Reference>
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+              <ExternalReference id="60680">
+                <Source>Genatlas</Source>
+                <Reference>ABCB6</Reference>
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+              <ExternalReference id="60678">
+                <Source>HGNC</Source>
+                <Reference>47</Reference>
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+              <ExternalReference id="60679">
+                <Source>OMIM</Source>
+                <Reference>605452</Reference>
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+              <ExternalReference id="83240">
+                <Source>Reactome</Source>
+                <Reference>Q9NP58</Reference>
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+              <ExternalReference id="60681">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Progressive symmetric erythrokeratodermia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30528822[PMID]</SourceOfValidation>
+          <Gene id="18650">
+            <Name lang="en">transient receptor potential cation channel subfamily M member 4</Name>
+            <Symbol>TRPM4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20041</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8TD43</Reference>
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+              <ExternalReference id="43052">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD43</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130529</Reference>
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+                <Reference>TRPM4</Reference>
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+                <Source>IUPHAR</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27965375[PMID]</SourceOfValidation>
+          <Gene id="16326">
+            <Name lang="en">keratin 83</Name>
+            <Symbol>KRT83</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Hb-3</Synonym>
+              <Synonym lang="en">hard keratin type II</Synonym>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170523</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">3-ketodihydrosphingosine reductase</Name>
+            <Symbol>KDSR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">3-dehydrosphinganine reductase</Synonym>
+              <Synonym lang="en">DHSR</Synonym>
+              <Synonym lang="en">SDR35C1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 35C, member 1</Synonym>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q06136</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="16368">
+            <Name lang="en">loricrin cornified envelope precursor protein</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Familial cylindromatosis</Name>
+      <DisorderType id="21450">
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+            <Symbol>CYLD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0849</Synonym>
+              <Synonym lang="en">USPL2</Synonym>
+              <Synonym lang="en">ubiquitin specific peptidase like 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">FERM domain containing kindlin 1</Name>
+            <Symbol>FERMT1</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">KIND1</Synonym>
+              <Synonym lang="en">UNC112A</Synonym>
+              <Synonym lang="en">URP1</Synonym>
+              <Synonym lang="en">kinderlin</Synonym>
+              <Synonym lang="en">kindlin-1</Synonym>
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+            <GeneType id="25993">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101311</Reference>
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+                <Reference>FERMT1</Reference>
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+                <Reference>15889</Reference>
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+                <Reference>607900</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BQL6</Reference>
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+      <OrphaCode>779</OrphaCode>
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+      <Name lang="en">Reynolds syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20522425[PMID]</SourceOfValidation>
+          <Gene id="16340">
+            <Name lang="en">lamin B receptor</Name>
+            <Symbol>LBR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DHCR14B</Synonym>
+              <Synonym lang="en">TDRD18</Synonym>
+              <Synonym lang="en">tudor domain containing 18</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>600024</Reference>
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+              <ExternalReference id="58067">
+                <Source>Reactome</Source>
+                <Reference>Q14739</Reference>
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+              <ExternalReference id="33405">
+                <Source>SwissProt</Source>
+                <Reference>Q14739</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143815</Reference>
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+              <ExternalReference id="30852">
+                <Source>Genatlas</Source>
+                <Reference>LBR</Reference>
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+              <ExternalReference id="30850">
+                <Source>HGNC</Source>
+                <Reference>6518</Reference>
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+            <LocusList count="1">
+              <Locus id="22849">
+                <GeneLocus>1q42.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="25329">
+      <OrphaCode>486811</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=486811</ExpertLink>
+      <Name lang="en">Prenatal-onset spinal muscular atrophy with congenital bone fractures</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26924529[PMID]_28218388[PMID]</SourceOfValidation>
+          <Gene id="21076">
+            <Name lang="en">activating signal cointegrator 1 complex subunit 1</Name>
+            <Symbol>ASCC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ASC1p50</Synonym>
+              <Synonym lang="en">CGI-18</Synonym>
+              <Synonym lang="en">Em:AC022392.3</Synonym>
+              <Synonym lang="en">p50</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97322">
+                <Source>Reactome</Source>
+                <Reference>Q8N9N2</Reference>
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+              <ExternalReference id="61593">
+                <Source>SwissProt</Source>
+                <Reference>Q8N9N2</Reference>
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+              <ExternalReference id="83334">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138303</Reference>
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+              <ExternalReference id="61592">
+                <Source>Genatlas</Source>
+                <Reference>ASCC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24268</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26924529[PMID]_28218388[PMID]</SourceOfValidation>
+          <Gene id="25003">
+            <Name lang="en">thyroid hormone receptor interactor 4</Name>
+            <Symbol>TRIP4</Symbol>
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+              <Synonym lang="en">ASC-1</Synonym>
+              <Synonym lang="en">Activating Signal Cointegrator-1</Synonym>
+              <Synonym lang="en">HsT17391</Synonym>
+              <Synonym lang="en">ZC2HC5</Synonym>
+              <Synonym lang="en">zinc finger, C2HC5-type</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="143215">
+                <Source>Genatlas</Source>
+                <Reference>TRIP4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15650</Reference>
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+              <ExternalReference id="133935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103671</Reference>
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+              <ExternalReference id="132540">
+                <Source>OMIM</Source>
+                <Reference>604501</Reference>
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+              <ExternalReference id="131820">
+                <Source>HGNC</Source>
+                <Reference>12310</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25330">
+      <OrphaCode>486815</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=486815</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>27008887[PMID]</SourceOfValidation>
+          <Gene id="25003">
+            <Name lang="en">thyroid hormone receptor interactor 4</Name>
+            <Symbol>TRIP4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ASC-1</Synonym>
+              <Synonym lang="en">Activating Signal Cointegrator-1</Synonym>
+              <Synonym lang="en">HsT17391</Synonym>
+              <Synonym lang="en">ZC2HC5</Synonym>
+              <Synonym lang="en">zinc finger, C2HC5-type</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143215">
+                <Source>Genatlas</Source>
+                <Reference>TRIP4</Reference>
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+              <ExternalReference id="133267">
+                <Source>SwissProt</Source>
+                <Reference>Q15650</Reference>
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+              <ExternalReference id="133935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103671</Reference>
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+              <ExternalReference id="132540">
+                <Source>OMIM</Source>
+                <Reference>604501</Reference>
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+              <ExternalReference id="131820">
+                <Source>HGNC</Source>
+                <Reference>12310</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25310">
+      <OrphaCode>485418</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=485418</ExpertLink>
+      <Name lang="en">EMILIN-1-related connective tissue disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26462740[PMID]</SourceOfValidation>
+          <Gene id="24508">
+            <Name lang="en">elastin microfibril interfacer 1</Name>
+            <Symbol>EMILIN1</Symbol>
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+              <Synonym lang="en">DKFZp586M121</Synonym>
+              <Synonym lang="en">EMILIN</Synonym>
+              <Synonym lang="en">gp115</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="134283">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6C2</Reference>
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+              <ExternalReference id="132783">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6C2</Reference>
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+              <ExternalReference id="132067">
+                <Source>OMIM</Source>
+                <Reference>130660</Reference>
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+              <ExternalReference id="133792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138080</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EMILIN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19880</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect</Name>
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+            <Name lang="en">mitochondrial fission factor</Name>
+            <Symbol>MFF</Symbol>
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+              <Synonym lang="en">GL004</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168958</Reference>
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+                <Reference>Q9GZY8</Reference>
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+      <Name lang="en">CLCN4-related X-linked intellectual disability syndrome</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073464</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26804200[PMID]_26686323[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+              <ExternalReference id="29504">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
+              </ExternalReference>
+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="25255">
+      <OrphaCode>482601</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=482601</ExpertLink>
+      <Name lang="en">Adenylosuccinate synthetase-like 1-related distal myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26506222[PMID]_27868399[PMID]_28268051[PMID]</SourceOfValidation>
+          <Gene id="24335">
+            <Name lang="en">adenylosuccinate synthase 1</Name>
+            <Symbol>ADSS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ38602</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="133459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185100</Reference>
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+              <ExternalReference id="143130">
+                <Source>Genatlas</Source>
+                <Reference>ADSSL1</Reference>
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+              <ExternalReference id="132612">
+                <Source>SwissProt</Source>
+                <Reference>Q8N142</Reference>
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+              <ExternalReference id="134169">
+                <Source>Reactome</Source>
+                <Reference>Q8N142</Reference>
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+              <ExternalReference id="131152">
+                <Source>HGNC</Source>
+                <Reference>20093</Reference>
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+            <LocusList count="1">
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+      <Name lang="en">Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="25192">
+            <Name lang="en">transport and golgi organization 2 homolog</Name>
+            <Symbol>TANGO2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp761P1121</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183597</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TANGO2</Reference>
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+              <ExternalReference id="135504">
+                <Source>HGNC</Source>
+                <Reference>25439</Reference>
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+              <ExternalReference id="135539">
+                <Source>OMIM</Source>
+                <Reference>616830</Reference>
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+              <ExternalReference id="135540">
+                <Source>SwissProt</Source>
+                <Reference>Q6ICL3</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>22q11.21</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="9801">
+      <OrphaCode>31837</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=31837</ExpertLink>
+      <Name lang="en">Pulmonary venoocclusive disease</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12446270[PMID]_18626305[PMID]</SourceOfValidation>
+          <Gene id="15374">
+            <Name lang="en">bone morphogenetic protein receptor type 2</Name>
+            <Symbol>BMPR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BMPR-II</Synonym>
+              <Synonym lang="en">BMPR3</Synonym>
+              <Synonym lang="en">BRK-3</Synonym>
+              <Synonym lang="en">T-ALK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204217</Reference>
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+              <ExternalReference id="26213">
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+                <Source>IUPHAR</Source>
+                <Reference>1794</Reference>
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+              <ExternalReference id="58609">
+                <Source>Reactome</Source>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24292273[PMID]</SourceOfValidation>
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+            <Name lang="en">eukaryotic translation initiation factor 2 alpha kinase 4</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>600770</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q9HC84</Reference>
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+      <Name lang="en">Isolated neonatal sclerosing cholangitis</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+                <Reference>ENSG00000146038</Reference>
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+                <Reference>Q9UHG0</Reference>
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+      <Name lang="en">High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement</Name>
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+        <Name lang="en">Disease</Name>
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+          <SourceOfValidation>21119107_27888878_27717585[PMID]</SourceOfValidation>
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+            <Name lang="en">MYC proto-oncogene, bHLH transcription factor</Name>
+            <Symbol>MYC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MYCC</Synonym>
+              <Synonym lang="en">bHLHe39</Synonym>
+              <Synonym lang="en">c-Myc</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000136997</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7553</Reference>
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+                <Reference>190080</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">BCL2 apoptosis regulator</Name>
+            <Symbol>BCL2</Symbol>
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+              <Synonym lang="en">PPP1R50</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 50</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171791</Reference>
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+                <Reference>990</Reference>
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+                <Reference>P10415</Reference>
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+          <SourceOfValidation>21119107_27888878_27717585[PMID]</SourceOfValidation>
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+            <Name lang="en">BCL6 transcription repressor</Name>
+            <Symbol>BCL6</Symbol>
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+                <Reference>2957</Reference>
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+                <Reference>ENSG00000113916</Reference>
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+                <Reference>1001</Reference>
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+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>HTRA1</Reference>
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+                <Reference>9476</Reference>
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+                <Reference>602194</Reference>
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+                <Reference>Q92743</Reference>
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+                <Reference>3194</Reference>
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+              <ExternalReference id="100312">
+                <Source>Reactome</Source>
+                <Reference>Q92743</Reference>
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+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25245">
+      <OrphaCode>481986</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=481986</ExpertLink>
+      <Name lang="en">Familial schizencephaly</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23225343_25500781_26576802[PMID]</SourceOfValidation>
+          <Gene id="15771">
+            <Name lang="en">collagen type IV alpha 1 chain</Name>
+            <Symbol>COL4A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58311">
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+                <Reference>ENSG00000187498</Reference>
+              </ExternalReference>
+              <ExternalReference id="28109">
+                <Source>Genatlas</Source>
+                <Reference>COL4A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28111">
+                <Source>HGNC</Source>
+                <Reference>2202</Reference>
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+                <Reference>120130</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>P02462</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02462</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=481152</ExpertLink>
+      <Name lang="en">PYCR2-related microcephaly-progressive leukoencephalopathy</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25865492_27130255[PMID]</SourceOfValidation>
+          <Gene id="25358">
+            <Name lang="en">pyrroline-5-carboxylate reductase 2</Name>
+            <Symbol>PYCR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">P5CR2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Reference>30262</Reference>
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+              <ExternalReference id="142448">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143811</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>616406</Reference>
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+              <ExternalReference id="142450">
+                <Source>SwissProt</Source>
+                <Reference>Q96C36</Reference>
+              </ExternalReference>
+              <ExternalReference id="142451">
+                <Source>Genatlas</Source>
+                <Reference>PYCR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="142452">
+                <Source>Reactome</Source>
+                <Reference>R-HSA-6783954</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+          </DisorderGeneAssociationStatus>
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+      <Name lang="en">Familial Chilblain lupus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+            <Name lang="en">SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1</Name>
+            <Symbol>SAMHD1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">AGS5</Synonym>
+              <Synonym lang="en">Aicardi-Goutieres syndrome 5</Synonym>
+              <Synonym lang="en">HD domain containing 1</Synonym>
+              <Synonym lang="en">HDDC1</Synonym>
+              <Synonym lang="en">MOP-5</Synonym>
+              <Synonym lang="en">Mg11</Synonym>
+              <Synonym lang="en">SBBI88</Synonym>
+              <Synonym lang="en">monocyte protein 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="42438">
+                <Source>OMIM</Source>
+                <Reference>606754</Reference>
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+              <ExternalReference id="97283">
+                <Source>Reactome</Source>
+                <Reference>Q9Y3Z3</Reference>
+              </ExternalReference>
+              <ExternalReference id="42439">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3Z3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101347</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>SAMHD1</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">three prime repair exonuclease 1</Name>
+            <Symbol>TREX1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Reactome</Source>
+                <Reference>Q9NSU2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NSU2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213689</Reference>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27566796[PMID]</SourceOfValidation>
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+            <Name lang="en">stimulator of interferon response cGAMP interactor 1</Name>
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+              <Synonym lang="en">NET23</Synonym>
+              <Synonym lang="en">STING</Synonym>
+              <Synonym lang="en">endoplasmic reticulum IFN stimulator</Synonym>
+              <Synonym lang="en">stimulator of interferon genes</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25215">
+      <OrphaCode>480536</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=480536</ExpertLink>
+      <Name lang="en">MSH3-related attenuated familial adenomatous polyposis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27476653[PMID]</SourceOfValidation>
+          <Gene id="25490">
+            <Name lang="en">mutS homolog 3</Name>
+            <Symbol>MSH3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DUP</Synonym>
+              <Synonym lang="en">Divergent upstream protein</Synonym>
+              <Synonym lang="en">MRP1</Synonym>
+              <Synonym lang="en">Mismatch repair protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144623">
+                <Source>OMIM</Source>
+                <Reference>600887</Reference>
+              </ExternalReference>
+              <ExternalReference id="144624">
+                <Source>Genatlas</Source>
+                <Reference>MSH3</Reference>
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+              <ExternalReference id="144625">
+                <Source>Reactome</Source>
+                <Reference>P20585</Reference>
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+              <ExternalReference id="144620">
+                <Source>HGNC</Source>
+                <Reference>7326</Reference>
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+              <ExternalReference id="144621">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113318</Reference>
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+              <ExternalReference id="144622">
+                <Source>SwissProt</Source>
+                <Reference>P20585</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25159">
+      <OrphaCode>477814</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477814</ExpertLink>
+      <Name lang="en">Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24781755[PMID]_2643574[PMID]</SourceOfValidation>
+          <Gene id="15864">
+            <Name lang="en">diaphanous related formin 1</Name>
+            <Symbol>DIAPH1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LFHL1</Synonym>
+              <Synonym lang="en">hDIA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59570">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131504</Reference>
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+              <ExternalReference id="28555">
+                <Source>Genatlas</Source>
+                <Reference>DIAPH1</Reference>
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+              <ExternalReference id="28553">
+                <Source>HGNC</Source>
+                <Reference>2876</Reference>
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+              <ExternalReference id="28552">
+                <Source>OMIM</Source>
+                <Reference>602121</Reference>
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+              <ExternalReference id="97203">
+                <Source>Reactome</Source>
+                <Reference>O60610</Reference>
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+              <ExternalReference id="32875">
+                <Source>SwissProt</Source>
+                <Reference>O60610</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25153">
+      <OrphaCode>477787</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477787</ExpertLink>
+      <Name lang="en">Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25102815[PMID]_18451993[PMID]</SourceOfValidation>
+          <Gene id="25110">
+            <Name lang="en">phospholipase A2 group IVA</Name>
+            <Symbol>PLA2G4A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">cPLA2-alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P47712</Reference>
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+              <ExternalReference id="134984">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116711</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1424</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9035</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600522</Reference>
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+              <ExternalReference id="134981">
+                <Source>Genatlas</Source>
+                <Reference>PLA2G4A</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P47712</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 29</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26626369[PMID]</SourceOfValidation>
+          <Gene id="25267">
+            <Name lang="en">thioredoxin 2</Name>
+            <Symbol>TXN2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MT-TRX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>17772</Reference>
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+              <ExternalReference id="138388">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100348</Reference>
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+              <ExternalReference id="138389">
+                <Source>OMIM</Source>
+                <Reference>609063</Reference>
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+              <ExternalReference id="138390">
+                <Source>Genatlas</Source>
+                <Reference>TXN2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99757</Reference>
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+              <ExternalReference id="142897">
+                <Source>Reactome</Source>
+                <Reference>Q99757</Reference>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 30</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000174173</Reference>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="143252">
+                <Source>SwissProt</Source>
+                <Reference>Q7L0Y3</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7L0Y3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
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+    <Disorder id="25164">
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+      <Name lang="en">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">lysine demethylase 1A</Name>
+            <Symbol>KDM1A</Symbol>
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+              <Synonym lang="en">KIAA0601</Synonym>
+              <Synonym lang="en">LSD1</Synonym>
+              <Synonym lang="en">Lysine-specific histone demethylase 1A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>29079</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KDM1A</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60341</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60341</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609132</Reference>
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+              <ExternalReference id="135400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004487</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2669</Reference>
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+      <OrphaCode>477857</OrphaCode>
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+      <Name lang="en">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">RAR related orphan receptor C</Name>
+            <Symbol>RORC</Symbol>
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+              <Synonym lang="en">RORG</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P51449</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>600</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143365</Reference>
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+      <Name lang="en">PMP22-RAI1 contiguous gene duplication syndrome</Name>
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+            <Name lang="en">retinoic acid induced 1</Name>
+            <Symbol>RAI1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108557</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Kosaki overgrowth syndrome</Name>
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+            <Name lang="en">platelet derived growth factor receptor beta</Name>
+            <Symbol>PDGFRB</Symbol>
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+              <Synonym lang="en">CD140b</Synonym>
+              <Synonym lang="en">JTK12</Synonym>
+              <Synonym lang="en">PDGFR1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113721</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PDGFRB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8804</Reference>
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+                <Reference>1804</Reference>
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+                <Reference>173410</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P09619</Reference>
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+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25168">
+      <OrphaCode>478049</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=478049</ExpertLink>
+      <Name lang="en">Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27799064[PMID]_25778941[PMID]</SourceOfValidation>
+          <Gene id="24703">
+            <Name lang="en">mitochondrial intermediate peptidase</Name>
+            <Symbol>MIPEP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MIP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="144010">
+                <Source>Genatlas</Source>
+                <Reference>MIPEP</Reference>
+              </ExternalReference>
+              <ExternalReference id="132251">
+                <Source>OMIM</Source>
+                <Reference>602241</Reference>
+              </ExternalReference>
+              <ExternalReference id="131520">
+                <Source>HGNC</Source>
+                <Reference>7104</Reference>
+              </ExternalReference>
+              <ExternalReference id="133501">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000027001</Reference>
+              </ExternalReference>
+              <ExternalReference id="132978">
+                <Source>SwissProt</Source>
+                <Reference>Q99797</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39475">
+                <GeneLocus>13q12.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25178">
+      <OrphaCode>478664</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=478664</ExpertLink>
+      <Name lang="en">Hereditary sensory and autonomic neuropathy type 8</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26005867[PMID]_26975306[PMID]_28050684[PMID]</SourceOfValidation>
+          <Gene id="24824">
+            <Name lang="en">PR/SET domain 12</Name>
+            <Symbol>PRDM12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PFM9</Synonym>
+              <Synonym lang="en">PR-domain containing protein 12</Synonym>
+              <Synonym lang="en">PR-domain zinc finger protein 12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="133090">
+                <Source>SwissProt</Source>
+                <Reference>Q9H4Q4</Reference>
+              </ExternalReference>
+              <ExternalReference id="133687">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130711</Reference>
+              </ExternalReference>
+              <ExternalReference id="143474">
+                <Source>Genatlas</Source>
+                <Reference>PRDM12</Reference>
+              </ExternalReference>
+              <ExternalReference id="131641">
+                <Source>HGNC</Source>
+                <Reference>13997</Reference>
+              </ExternalReference>
+              <ExternalReference id="132370">
+                <Source>OMIM</Source>
+                <Reference>616458</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38653">
+                <GeneLocus>9q34.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="25136">
+      <OrphaCode>477661</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477661</ExpertLink>
+      <Name lang="en">IL21-related infantile inflammatory bowel disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19890111[PMID]_24746753[PMID]</SourceOfValidation>
+          <Gene id="22882">
+            <Name lang="en">interleukin 21</Name>
+            <Symbol>IL21</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">IL-21</Synonym>
+              <Synonym lang="en">Za11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91573">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138684</Reference>
+              </ExternalReference>
+              <ExternalReference id="89864">
+                <Source>Genatlas</Source>
+                <Reference>IL21</Reference>
+              </ExternalReference>
+              <ExternalReference id="89862">
+                <Source>HGNC</Source>
+                <Reference>6005</Reference>
+              </ExternalReference>
+              <ExternalReference id="89863">
+                <Source>OMIM</Source>
+                <Reference>605384</Reference>
+              </ExternalReference>
+              <ExternalReference id="89865">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBE4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="25685">
+                <GeneLocus>4q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="25139">
+      <OrphaCode>477684</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477684</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 26</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26189817[PMID]</SourceOfValidation>
+          <Gene id="25266">
+            <Name lang="en">tRNA methyltransferase 5</Name>
+            <Symbol>TRMT5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TRM5</Synonym>
+              <Synonym lang="en">tRNA (guanine(37)-N1)-methyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="138382">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126814</Reference>
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+              <ExternalReference id="138383">
+                <Source>HGNC</Source>
+                <Reference>23141</Reference>
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+              <ExternalReference id="138384">
+                <Source>OMIM</Source>
+                <Reference>611023</Reference>
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+              <ExternalReference id="138385">
+                <Source>Genatlas</Source>
+                <Reference>TRMT5</Reference>
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+              <ExternalReference id="142831">
+                <Source>SwissProt</Source>
+                <Reference>Q32P41</Reference>
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+              <ExternalReference id="142832">
+                <Source>Reactome</Source>
+                <Reference>Q32P41</Reference>
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+              <Locus id="37381">
+                <GeneLocus>14q23.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="25138">
+      <OrphaCode>477673</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477673</ExpertLink>
+      <Name lang="en">Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25758935[PMID]_27601654[PMID]</SourceOfValidation>
+          <Gene id="24573">
+            <Name lang="en">glutamic--pyruvic transaminase 2</Name>
+            <Symbol>GPT2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ALT2</Synonym>
+              <Synonym lang="en">alanine aminotransferase 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131390">
+                <Source>HGNC</Source>
+                <Reference>18062</Reference>
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+              <ExternalReference id="144040">
+                <Source>Genatlas</Source>
+                <Reference>GPT2</Reference>
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+              <ExternalReference id="133694">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166123</Reference>
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+              <ExternalReference id="143817">
+                <Source>Reactome</Source>
+                <Reference>Q8TD30</Reference>
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+              <ExternalReference id="132848">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD30</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138210</Reference>
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+              <Locus id="39531">
+                <GeneLocus>16q11.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25141">
+      <OrphaCode>477738</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477738</ExpertLink>
+      <Name lang="en">Pediatric multiple sclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14669136[PMID]_8181961[PMID]</SourceOfValidation>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
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+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
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+              <ExternalReference id="43210">
+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+              <ExternalReference id="43211">
+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
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+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
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+              <ExternalReference id="82625">
+                <Source>SwissProt</Source>
+                <Reference>P01920</Reference>
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+                <GeneLocus>6p21.32</GeneLocus>
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14669136[PMID]_8181961[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
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+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
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+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
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+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
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+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="25143">
+      <OrphaCode>477749</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477749</ExpertLink>
+      <Name lang="en">Pontine autosomal dominant microangiopathy with leukoencephalopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27666438[PMID]</SourceOfValidation>
+          <Gene id="15771">
+            <Name lang="en">collagen type IV alpha 1 chain</Name>
+            <Symbol>COL4A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58311">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187498</Reference>
+              </ExternalReference>
+              <ExternalReference id="28109">
+                <Source>Genatlas</Source>
+                <Reference>COL4A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28111">
+                <Source>HGNC</Source>
+                <Reference>2202</Reference>
+              </ExternalReference>
+              <ExternalReference id="28110">
+                <Source>OMIM</Source>
+                <Reference>120130</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02462</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02462</Reference>
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+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25142">
+      <OrphaCode>477742</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477742</ExpertLink>
+      <Name lang="en">Nodular fasciitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21826056[PMID]</SourceOfValidation>
+          <Gene id="25272">
+            <Name lang="en">ubiquitin specific peptidase 6</Name>
+            <Symbol>USP6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">TBC1D3 and USP32 fusion</Synonym>
+              <Synonym lang="en">TRE17</Synonym>
+              <Synonym lang="en">Tre-2</Synonym>
+              <Synonym lang="en">Tre-2 oncogene</Synonym>
+              <Synonym lang="en">Tre2</Synonym>
+              <Synonym lang="en">ubiquitin carboxyl-terminal hydrolase 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>12629</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604334</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>USP6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129204</Reference>
+              </ExternalReference>
+              <ExternalReference id="143018">
+                <Source>SwissProt</Source>
+                <Reference>P35125</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21826056[PMID]</SourceOfValidation>
+          <Gene id="16503">
+            <Name lang="en">myosin heavy chain 9</Name>
+            <Symbol>MYH9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">EPSTS</Synonym>
+              <Synonym lang="en">FTNS</Synonym>
+              <Synonym lang="en">MHA</Synonym>
+              <Synonym lang="en">NMHC-II-A</Synonym>
+              <Synonym lang="en">NMMHCA</Synonym>
+              <Synonym lang="en">nonmuscle myosin heavy chain II-A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100345</Reference>
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+              <ExternalReference id="31604">
+                <Source>Genatlas</Source>
+                <Reference>MYH9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7579</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160775</Reference>
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+              <ExternalReference id="57728">
+                <Source>Reactome</Source>
+                <Reference>P35579</Reference>
+              </ExternalReference>
+              <ExternalReference id="33568">
+                <Source>SwissProt</Source>
+                <Reference>P35579</Reference>
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+              <Locus id="24457">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25150">
+      <OrphaCode>477774</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=477774</ExpertLink>
+      <Name lang="en">Combined oxidative phosphorylation defect type 27</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25787132[PMID]_25361775[PMID]</SourceOfValidation>
+          <Gene id="24388">
+            <Name lang="en">cysteinyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>CARS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ12118</Synonym>
+              <Synonym lang="en">cysteine tRNA ligase 2, mitochondrial (putative)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="134203">
+                <Source>Reactome</Source>
+                <Reference>Q9HA77</Reference>
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+              <ExternalReference id="131205">
+                <Source>HGNC</Source>
+                <Reference>25695</Reference>
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+              <ExternalReference id="144048">
+                <Source>Genatlas</Source>
+                <Reference>CARS2</Reference>
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+              <ExternalReference id="133735">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134905</Reference>
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+              <ExternalReference id="132665">
+                <Source>SwissProt</Source>
+                <Reference>Q9HA77</Reference>
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+              <ExternalReference id="131952">
+                <Source>OMIM</Source>
+                <Reference>612800</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q34</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="25091">
+      <OrphaCode>476119</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=476119</ExpertLink>
+      <Name lang="en">Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25782671[PMID]</SourceOfValidation>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+              <ExternalReference id="25809">
+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
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+              <ExternalReference id="25808">
+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
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+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+              <ExternalReference id="33848">
+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25089">
+      <OrphaCode>476113</OrphaCode>
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+      <Name lang="en">Combined immunodeficiency due to TFRC deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26642240[PMID]</SourceOfValidation>
+          <Gene id="24978">
+            <Name lang="en">transferrin receptor</Name>
+            <Symbol>TFRC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD71</Synonym>
+              <Synonym lang="en">TFR1</Synonym>
+              <Synonym lang="en">p90</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>TFRC</Reference>
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+              <ExternalReference id="132515">
+                <Source>OMIM</Source>
+                <Reference>190010</Reference>
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+              <ExternalReference id="133418">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072274</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>3196</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02786</Reference>
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+              <ExternalReference id="134577">
+                <Source>Reactome</Source>
+                <Reference>P02786</Reference>
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+                <Reference>11763</Reference>
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+                <GeneLocus>3q29</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="25093">
+      <OrphaCode>476126</OrphaCode>
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+      <Name lang="en">Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26721934[PMID]</SourceOfValidation>
+          <Gene id="25001">
+            <Name lang="en">trio Rho guanine nucleotide exchange factor</Name>
+            <Symbol>TRIO</Symbol>
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+              <Synonym lang="en">ARHGEF23</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Genatlas</Source>
+                <Reference>TRIO</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75962</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601893</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
+                <Reference>O75962</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000038382</Reference>
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+      <Name lang="en">Congenital generalized hypercontractile muscle stiffness syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26418456[PMID]</SourceOfValidation>
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+            <Name lang="en">tropomyosin 3</Name>
+            <Symbol>TPM3</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P06753</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">PMP2-related Charcot-Marie-Tooth disease type 1</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147588</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+            <Symbol>DDX41</Symbol>
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+                <Reference>Q9UJV9</Reference>
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+                <Source>Reactome</Source>
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+    <Disorder id="25414">
+      <OrphaCode>488650</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488650</ExpertLink>
+      <Name lang="en">Distal myopathy, Tateyama type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11805270[PMID]_18930476[PMID]</SourceOfValidation>
+          <Gene id="15403">
+            <Name lang="en">caveolin 3</Name>
+            <Symbol>CAV3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">LGMD1C</Synonym>
+              <Synonym lang="en">LQT9</Synonym>
+              <Synonym lang="en">M-caveolin</Synonym>
+              <Synonym lang="en">VIP-21</Synonym>
+              <Synonym lang="en">VIP21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57494">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182533</Reference>
+              </ExternalReference>
+              <ExternalReference id="26355">
+                <Source>Genatlas</Source>
+                <Reference>CAV3</Reference>
+              </ExternalReference>
+              <ExternalReference id="26353">
+                <Source>HGNC</Source>
+                <Reference>1529</Reference>
+              </ExternalReference>
+              <ExternalReference id="26352">
+                <Source>OMIM</Source>
+                <Reference>601253</Reference>
+              </ExternalReference>
+              <ExternalReference id="97180">
+                <Source>Reactome</Source>
+                <Reference>P56539</Reference>
+              </ExternalReference>
+              <ExternalReference id="32371">
+                <Source>SwissProt</Source>
+                <Reference>P56539</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22645">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25408">
+      <OrphaCode>488618</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488618</ExpertLink>
+      <Name lang="en">Transketolase deficiency</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27259054[PMID]</SourceOfValidation>
+          <Gene id="25437">
+            <Name lang="en">transketolase</Name>
+            <Symbol>TKT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Wernicke-Korsakoff syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143784">
+                <Source>HGNC</Source>
+                <Reference>11834</Reference>
+              </ExternalReference>
+              <ExternalReference id="143785">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163931</Reference>
+              </ExternalReference>
+              <ExternalReference id="143786">
+                <Source>SwissProt</Source>
+                <Reference>P29401</Reference>
+              </ExternalReference>
+              <ExternalReference id="143787">
+                <Source>OMIM</Source>
+                <Reference>606781</Reference>
+              </ExternalReference>
+              <ExternalReference id="143788">
+                <Source>Genatlas</Source>
+                <Reference>TKT</Reference>
+              </ExternalReference>
+              <ExternalReference id="143789">
+                <Source>Reactome</Source>
+                <Reference>P29401</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39045">
+                <GeneLocus>3p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25409">
+      <OrphaCode>488627</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488627</ExpertLink>
+      <Name lang="en">Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27055666[PMID]</SourceOfValidation>
+          <Gene id="25859">
+            <Name lang="en">pseudouridine synthase 3</Name>
+            <Symbol>PUS3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FKSG32</Synonym>
+              <Synonym lang="en">tRNA pseudouridine(38/39) synthase</Synonym>
+              <Synonym lang="en">tRNA-uridine isomerase 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147746">
+                <Source>HGNC</Source>
+                <Reference>25461</Reference>
+              </ExternalReference>
+              <ExternalReference id="147748">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZE2</Reference>
+              </ExternalReference>
+              <ExternalReference id="147747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110060</Reference>
+              </ExternalReference>
+              <ExternalReference id="147749">
+                <Source>OMIM</Source>
+                <Reference>616283</Reference>
+              </ExternalReference>
+              <ExternalReference id="147750">
+                <Source>Genatlas</Source>
+                <Reference>PUS3</Reference>
+              </ExternalReference>
+              <ExternalReference id="147751">
+                <Source>Reactome</Source>
+                <Reference>Q9BZE2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42501">
+                <GeneLocus>11q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25410">
+      <OrphaCode>488632</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488632</ExpertLink>
+      <Name lang="en">TBCK-related intellectual disability syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27040691[PMID]_27040692[PMID]_27275012[PMID]_27748029[PMID]_18541960[PMID]</SourceOfValidation>
+          <Gene id="25731">
+            <Name lang="en">TBC1 domain containing kinase</Name>
+            <Symbol>TBCK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HSPC302</Synonym>
+              <Synonym lang="en">MGC16169</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="146937">
+                <Source>HGNC</Source>
+                <Reference>28261</Reference>
+              </ExternalReference>
+              <ExternalReference id="146938">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145348</Reference>
+              </ExternalReference>
+              <ExternalReference id="146939">
+                <Source>SwissProt</Source>
+                <Reference>Q8TEA7</Reference>
+              </ExternalReference>
+              <ExternalReference id="146940">
+                <Source>OMIM</Source>
+                <Reference>616899</Reference>
+              </ExternalReference>
+              <ExternalReference id="146941">
+                <Source>Genatlas</Source>
+                <Reference>TBCK</Reference>
+              </ExternalReference>
+              <ExternalReference id="147456">
+                <Source>IUPHAR</Source>
+                <Reference>2236</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42241">
+                <GeneLocus>4q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="25411">
+      <OrphaCode>488635</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488635</ExpertLink>
+      <Name lang="en">Early-onset epilepsy-intellectual disability-brain anomalies syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26996948[PMID]_28581210[PMID]</SourceOfValidation>
+          <Gene id="25819">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class G</Name>
+            <Symbol>PIGG</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20265</Synonym>
+              <Synonym lang="en">GPI ethanolamine phosphate transferase 2</Synonym>
+              <Synonym lang="en">GPI7</Synonym>
+              <Synonym lang="en">LAS21</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147493">
+                <Source>SwissProt</Source>
+                <Reference>Q5H8A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="147494">
+                <Source>OMIM</Source>
+                <Reference>616918</Reference>
+              </ExternalReference>
+              <ExternalReference id="147495">
+                <Source>Genatlas</Source>
+                <Reference>PIGG</Reference>
+              </ExternalReference>
+              <ExternalReference id="147496">
+                <Source>Reactome</Source>
+                <Reference>Q5H8A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="147491">
+                <Source>HGNC</Source>
+                <Reference>25985</Reference>
+              </ExternalReference>
+              <ExternalReference id="147492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174227</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="42323">
+                <GeneLocus>4p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="25395">
+      <OrphaCode>488265</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488265</ExpertLink>
+      <Name lang="en">Osteofibrous dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26637977[PMID]_8276381[PMID]_9234973[PMID]_1270474[PMID]</SourceOfValidation>
+          <Gene id="16392">
+            <Name lang="en">MET proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>MET</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DFNB97</Synonym>
+              <Synonym lang="en">HGFR</Synonym>
+              <Synonym lang="en">RCCP2</Synonym>
+              <Synonym lang="en">hepatocyte growth factor receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105976</Reference>
+              </ExternalReference>
+              <ExternalReference id="31094">
+                <Source>Genatlas</Source>
+                <Reference>MET</Reference>
+              </ExternalReference>
+              <ExternalReference id="31096">
+                <Source>HGNC</Source>
+                <Reference>7029</Reference>
+              </ExternalReference>
+              <ExternalReference id="82993">
+                <Source>IUPHAR</Source>
+                <Reference>1815</Reference>
+              </ExternalReference>
+              <ExternalReference id="31095">
+                <Source>OMIM</Source>
+                <Reference>164860</Reference>
+              </ExternalReference>
+              <ExternalReference id="57161">
+                <Source>Reactome</Source>
+                <Reference>P08581</Reference>
+              </ExternalReference>
+              <ExternalReference id="33456">
+                <Source>SwissProt</Source>
+                <Reference>P08581</Reference>
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+            <LocusList count="1">
+              <Locus id="9193">
+                <GeneLocus>7q31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25392">
+      <OrphaCode>488232</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488232</ExpertLink>
+      <Name lang="en">Split-foot malformation-mesoaxial polydactyly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26755636[PMID]</SourceOfValidation>
+          <Gene id="25286">
+            <Name lang="en">mitogen-activated protein kinase kinase kinase 20</Name>
+            <Symbol>MAP3K20</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">MLK7</Synonym>
+              <Synonym lang="en">MLTK</Synonym>
+              <Synonym lang="en">MLTKalpha</Synonym>
+              <Synonym lang="en">MLTKbeta</Synonym>
+              <Synonym lang="en">MRK</Synonym>
+              <Synonym lang="en">ZAK</Synonym>
+              <Synonym lang="en">ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)</Synonym>
+              <Synonym lang="en">mixed lineage kinase 7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="138495">
+                <Source>HGNC</Source>
+                <Reference>17797</Reference>
+              </ExternalReference>
+              <ExternalReference id="138496">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091436</Reference>
+              </ExternalReference>
+              <ExternalReference id="138497">
+                <Source>OMIM</Source>
+                <Reference>609479</Reference>
+              </ExternalReference>
+              <ExternalReference id="190731">
+                <Source>IUPHAR</Source>
+                <Reference>2289</Reference>
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+              <ExternalReference id="143872">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYL2</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NYL2</Reference>
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+            <LocusList count="1">
+              <Locus id="60871">
+                <GeneLocus>2q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25399">
+      <OrphaCode>488333</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488333</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2W</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26072516[PMID]</SourceOfValidation>
+          <Gene id="21178">
+            <Name lang="en">histidyl-tRNA synthetase 1</Name>
+            <Symbol>HARS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'histidine tRNA ligase 1, cytoplasmic'</Synonym>
+              <Synonym lang="en">HisRS</Synonym>
+              <Synonym lang="en">Histidine tRNA ligase 1, cytoplasmic</Synonym>
+              <Synonym lang="en">Jo-1 antigen</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83409">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170445</Reference>
+              </ExternalReference>
+              <ExternalReference id="69759">
+                <Source>Genatlas</Source>
+                <Reference>HARS</Reference>
+              </ExternalReference>
+              <ExternalReference id="69757">
+                <Source>HGNC</Source>
+                <Reference>4816</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>142810</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>P12081</Reference>
+              </ExternalReference>
+              <ExternalReference id="69760">
+                <Source>SwissProt</Source>
+                <Reference>P12081</Reference>
+              </ExternalReference>
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+                <GeneLocus>5q31.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25401">
+      <OrphaCode>488437</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488437</ExpertLink>
+      <Name lang="en">SIX2-related frontonasal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26581443[PMID]_27920634[PMID]</SourceOfValidation>
+          <Gene id="25826">
+            <Name lang="en">SIX homeobox 2</Name>
+            <Symbol>SIX2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="147538">
+                <Source>SwissProt</Source>
+                <Reference>Q9NPC8</Reference>
+              </ExternalReference>
+              <ExternalReference id="147539">
+                <Source>OMIM</Source>
+                <Reference>604994</Reference>
+              </ExternalReference>
+              <ExternalReference id="147540">
+                <Source>Genatlas</Source>
+                <Reference>SIX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="147536">
+                <Source>HGNC</Source>
+                <Reference>10888</Reference>
+              </ExternalReference>
+              <ExternalReference id="147537">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170577</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="42349">
+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="25407">
+      <OrphaCode>488613</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488613</ExpertLink>
+      <Name lang="en">Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27108799[PMID]_28087732[PMID]_27668284[PMID]</SourceOfValidation>
+          <Gene id="25724">
+            <Name lang="en">G protein subunit beta 1</Name>
+            <Symbol>GNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1</Synonym>
+              <Synonym lang="en">transducin beta chain 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="146893">
+                <Source>HGNC</Source>
+                <Reference>4396</Reference>
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+              <ExternalReference id="146894">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078369</Reference>
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+              <ExternalReference id="146895">
+                <Source>SwissProt</Source>
+                <Reference>P62873</Reference>
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+              <ExternalReference id="146896">
+                <Source>OMIM</Source>
+                <Reference>139380</Reference>
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+              <ExternalReference id="146897">
+                <Source>Genatlas</Source>
+                <Reference>GNB1</Reference>
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+              <ExternalReference id="146898">
+                <Source>Reactome</Source>
+                <Reference>P62873</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25404">
+      <OrphaCode>488594</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488594</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 76</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>201727153400[PMID]</SourceOfValidation>
+          <Gene id="25539">
+            <Name lang="en">calpain 1</Name>
+            <Symbol>CAPN1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CANP</Synonym>
+              <Synonym lang="en">CANPL1</Synonym>
+              <Synonym lang="en">muCANP</Synonym>
+              <Synonym lang="en">muCL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>IUPHAR</Source>
+                <Reference>2336</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1476</Reference>
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+              <ExternalReference id="144903">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000014216</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07384</Reference>
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+              <ExternalReference id="144905">
+                <Source>OMIM</Source>
+                <Reference>114220</Reference>
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+              <ExternalReference id="144906">
+                <Source>Genatlas</Source>
+                <Reference>CAPN1</Reference>
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+                <GeneLocus>11q13.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="25390">
+      <OrphaCode>488197</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488197</ExpertLink>
+      <Name lang="en">Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26056285[PMID]_26159420[PMID]</SourceOfValidation>
+          <Gene id="25577">
+            <Name lang="en">microRNA 204</Name>
+            <Symbol>MIR204</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hsa-mir-204</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="145889">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000207935</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="25388">
+      <OrphaCode>488168</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488168</ExpertLink>
+      <Name lang="en">Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21285510[PMID]_24144731[PMID]_23042573[PMID]</SourceOfValidation>
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+            <Name lang="en">methylsterol monooxygenase 1</Name>
+            <Symbol>MSMO1</Symbol>
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+              <Synonym lang="en">DESP4</Synonym>
+              <Synonym lang="en">ERG25</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q15800</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000052802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15800</Reference>
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+    <Disorder id="25389">
+      <OrphaCode>488191</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=488191</ExpertLink>
+      <Name lang="en">Female infertility due to oocyte meiotic arrest</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">WEE2 oocyte meiosis inhibiting kinase</Name>
+            <Symbol>WEE2</Symbol>
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+              <Synonym lang="en">FLJ16107</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P0C1S8</Reference>
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+                <Source>OMIM</Source>
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+          <SourceOfValidation>33495594[PMID]</SourceOfValidation>
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+            <Name lang="en">pannexin 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>PATL2</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000229474</Reference>
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+                <Reference>C9JE40</Reference>
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+          <SourceOfValidation>26789871[PMID]</SourceOfValidation>
+          <Gene id="25854">
+            <Name lang="en">tubulin beta 8 class VIII</Name>
+            <Symbol>TUBB8</Symbol>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">cell division cycle 42</Name>
+            <Symbol>CDC42</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+            <Symbol>DGAT2</Symbol>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PD7</Reference>
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+                <Reference>DGAT2</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96PD7</Reference>
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+      <OrphaCode>487825</OrphaCode>
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+      <Name lang="en">Pierpont syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>TBL1XR1</Symbol>
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+              <Synonym lang="en">DC42</Synonym>
+              <Synonym lang="en">FLJ12894</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">TNF alpha induced protein 3</Name>
+            <Symbol>TNFAIP3</Symbol>
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+              <Synonym lang="en">OTUD7C</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000118503</Reference>
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+                <Reference>Q04206</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=476093</ExpertLink>
+      <Name lang="en">Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">heat shock protein family B (small) member 8</Name>
+            <Symbol>HSPB8</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">HSP22</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Congenital brain dysgenesis due to glutamine synthetase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">glutamate-ammonia ligase</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+    </Disorder>
+    <Disorder id="10963">
+      <OrphaCode>70592</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70592</ExpertLink>
+      <Name lang="en">Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16266">
+            <Name lang="en">interleukin 1 receptor associated kinase 4</Name>
+            <Symbol>IRAK4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NY-REN-64</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59230">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198001</Reference>
+              </ExternalReference>
+              <ExternalReference id="37497">
+                <Source>Genatlas</Source>
+                <Reference>IRAK4</Reference>
+              </ExternalReference>
+              <ExternalReference id="30498">
+                <Source>HGNC</Source>
+                <Reference>17967</Reference>
+              </ExternalReference>
+              <ExternalReference id="82961">
+                <Source>IUPHAR</Source>
+                <Reference>2045</Reference>
+              </ExternalReference>
+              <ExternalReference id="30497">
+                <Source>OMIM</Source>
+                <Reference>606883</Reference>
+              </ExternalReference>
+              <ExternalReference id="59231">
+                <Source>Reactome</Source>
+                <Reference>Q9NWZ3</Reference>
+              </ExternalReference>
+              <ExternalReference id="33331">
+                <Source>SwissProt</Source>
+                <Reference>Q9NWZ3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8955">
+                <GeneLocus>12q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10966">
+      <OrphaCode>70595</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70595</ExpertLink>
+      <Name lang="en">Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12565911[PMID]_16919951[PMID]</SourceOfValidation>
+          <Gene id="15118">
+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
+              </ExternalReference>
+              <ExternalReference id="24994">
+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
+              </ExternalReference>
+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
+              </ExternalReference>
+              <ExternalReference id="24995">
+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
+              </ExternalReference>
+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+              <ExternalReference id="143949">
+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39367">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15668446[PMID]</SourceOfValidation>
+          <Gene id="17411">
+            <Name lang="en">twinkle mtDNA helicase</Name>
+            <Symbol>TWNK</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FLJ21832</Synonym>
+              <Synonym lang="en">PEO</Synonym>
+              <Synonym lang="en">PEO1</Synonym>
+              <Synonym lang="en">T7 helicase-related protein with intramitochondrial nucleoid localization</Synonym>
+              <Synonym lang="en">TWINKLE</Synonym>
+              <Synonym lang="en">TWINL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107815</Reference>
+              </ExternalReference>
+              <ExternalReference id="37622">
+                <Source>Genatlas</Source>
+                <Reference>C10orf2</Reference>
+              </ExternalReference>
+              <ExternalReference id="37624">
+                <Source>HGNC</Source>
+                <Reference>1160</Reference>
+              </ExternalReference>
+              <ExternalReference id="37623">
+                <Source>OMIM</Source>
+                <Reference>606075</Reference>
+              </ExternalReference>
+              <ExternalReference id="87982">
+                <Source>Reactome</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37625">
+                <Source>SwissProt</Source>
+                <Reference>Q96RR1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24221">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10965">
+      <OrphaCode>70594</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70594</ExpertLink>
+      <Name lang="en">Dopa-responsive dystonia due to sepiapterin reductase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15551">
+            <Name lang="en">sepiapterin reductase</Name>
+            <Symbol>SPR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SDR38C1</Synonym>
+              <Synonym lang="en">Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 38C, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="27074">
+                <Source>Genatlas</Source>
+                <Reference>SPR</Reference>
+              </ExternalReference>
+              <ExternalReference id="27072">
+                <Source>HGNC</Source>
+                <Reference>11257</Reference>
+              </ExternalReference>
+              <ExternalReference id="27071">
+                <Source>OMIM</Source>
+                <Reference>182125</Reference>
+              </ExternalReference>
+              <ExternalReference id="59233">
+                <Source>Reactome</Source>
+                <Reference>P35270</Reference>
+              </ExternalReference>
+              <ExternalReference id="32522">
+                <Source>SwissProt</Source>
+                <Reference>P35270</Reference>
+              </ExternalReference>
+              <ExternalReference id="59232">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116096</Reference>
+              </ExternalReference>
+              <ExternalReference id="193646">
+                <Source>IUPHAR</Source>
+                <Reference>3020</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66701">
+                <GeneLocus>2p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10953">
+      <OrphaCode>70573</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70573</ExpertLink>
+      <Name lang="en">Small cell lung cancer</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26168399[PMID]</SourceOfValidation>
+          <Gene id="15191">
+            <Name lang="en">RB transcriptional corepressor 1</Name>
+            <Symbol>RB1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PPP1R130</Synonym>
+              <Synonym lang="en">RB</Synonym>
+              <Synonym lang="en">prepro-retinoblastoma-associated protein</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 130</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33715">
+                <Source>SwissProt</Source>
+                <Reference>P06400</Reference>
+              </ExternalReference>
+              <ExternalReference id="56836">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139687</Reference>
+              </ExternalReference>
+              <ExternalReference id="25345">
+                <Source>Genatlas</Source>
+                <Reference>RB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25343">
+                <Source>HGNC</Source>
+                <Reference>9884</Reference>
+              </ExternalReference>
+              <ExternalReference id="51803">
+                <Source>OMIM</Source>
+                <Reference>614041</Reference>
+              </ExternalReference>
+              <ExternalReference id="56837">
+                <Source>Reactome</Source>
+                <Reference>P06400</Reference>
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+            <LocusList count="1">
+              <Locus id="6947">
+                <GeneLocus>13q14.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26168399[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56954">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
+              </ExternalReference>
+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
+              </ExternalReference>
+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
+              </ExternalReference>
+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
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+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+              <Locus id="7791">
+                <GeneLocus>17p13.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26168399[PMID]</SourceOfValidation>
+          <Gene id="23400">
+            <Name lang="en">tumor protein p73</Name>
+            <Symbol>TP73</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">P73</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="96482">
+                <Source>OMIM</Source>
+                <Reference>601990</Reference>
+              </ExternalReference>
+              <ExternalReference id="96484">
+                <Source>SwissProt</Source>
+                <Reference>O15350</Reference>
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+              <ExternalReference id="96485">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078900</Reference>
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+              <ExternalReference id="96483">
+                <Source>Genatlas</Source>
+                <Reference>TP73</Reference>
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+              <ExternalReference id="96481">
+                <Source>HGNC</Source>
+                <Reference>12003</Reference>
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+              <ExternalReference id="100362">
+                <Source>Reactome</Source>
+                <Reference>O15350</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10958">
+      <OrphaCode>70587</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70587</ExpertLink>
+      <Name lang="en">Infant acute respiratory distress syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11063734[PMID]</SourceOfValidation>
+          <Gene id="15278">
+            <Name lang="en">surfactant protein B</Name>
+            <Symbol>SFTPB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SP-B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59229">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168878</Reference>
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+              <ExternalReference id="25751">
+                <Source>Genatlas</Source>
+                <Reference>SFTPB</Reference>
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+              <ExternalReference id="25749">
+                <Source>HGNC</Source>
+                <Reference>10801</Reference>
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+              <ExternalReference id="25748">
+                <Source>OMIM</Source>
+                <Reference>178640</Reference>
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+              <ExternalReference id="97168">
+                <Source>Reactome</Source>
+                <Reference>P07988</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07988</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15279">
+            <Name lang="en">surfactant protein C</Name>
+            <Symbol>SFTPC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRICD6</Synonym>
+              <Synonym lang="en">BRICHOS domain containing 6</Synonym>
+              <Synonym lang="en">PSP-C</Synonym>
+              <Synonym lang="en">SMDP2</Synonym>
+              <Synonym lang="en">SP-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58760">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168484</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SFTPC</Reference>
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+              <ExternalReference id="25755">
+                <Source>HGNC</Source>
+                <Reference>10802</Reference>
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+              <ExternalReference id="25754">
+                <Source>OMIM</Source>
+                <Reference>178620</Reference>
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+              <ExternalReference id="97169">
+                <Source>Reactome</Source>
+                <Reference>P11686</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11686</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27516224[PMID]</SourceOfValidation>
+          <Gene id="16988">
+            <Name lang="en">ATP binding cassette subfamily A member 3</Name>
+            <Symbol>ABCA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABC-C</Synonym>
+              <Synonym lang="en">EST111653</Synonym>
+              <Synonym lang="en">LBM180</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>758</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167972</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ABCA3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>33</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>601615</Reference>
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+              <ExternalReference id="60518">
+                <Source>Reactome</Source>
+                <Reference>Q99758</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99758</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10947">
+      <OrphaCode>70474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70474</ExpertLink>
+      <Name lang="en">Leigh syndrome with cardiomyopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
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+          <SourceOfValidation>27986404[PMID]</SourceOfValidation>
+          <Gene id="18461">
+            <Name lang="en">NADH:ubiquinone oxidoreductase complex assembly factor 3</Name>
+            <Symbol>NDUFAF3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">2P1</Synonym>
+              <Synonym lang="en">DKFZP564J0123</Synonym>
+              <Synonym lang="en">E3-3</Synonym>
+              <Synonym lang="en">MGC10527</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57203">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178057</Reference>
+              </ExternalReference>
+              <ExternalReference id="46819">
+                <Source>Genatlas</Source>
+                <Reference>NDUFAF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="42400">
+                <Source>HGNC</Source>
+                <Reference>29918</Reference>
+              </ExternalReference>
+              <ExternalReference id="42401">
+                <Source>OMIM</Source>
+                <Reference>612911</Reference>
+              </ExternalReference>
+              <ExternalReference id="97281">
+                <Source>Reactome</Source>
+                <Reference>Q9BU61</Reference>
+              </ExternalReference>
+              <ExternalReference id="42402">
+                <Source>SwissProt</Source>
+                <Reference>Q9BU61</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16809">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29429571[PMID]</SourceOfValidation>
+          <Gene id="24749">
+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit B8</Name>
+            <Symbol>NDUFB8</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ASHI</Synonym>
+              <Synonym lang="en">CI-ASHI</Synonym>
+              <Synonym lang="en">complex I ASHI subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="134432">
+                <Source>Reactome</Source>
+                <Reference>O95169</Reference>
+              </ExternalReference>
+              <ExternalReference id="133831">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166136</Reference>
+              </ExternalReference>
+              <ExternalReference id="132296">
+                <Source>OMIM</Source>
+                <Reference>602140</Reference>
+              </ExternalReference>
+              <ExternalReference id="131566">
+                <Source>HGNC</Source>
+                <Reference>7703</Reference>
+              </ExternalReference>
+              <ExternalReference id="133016">
+                <Source>SwissProt</Source>
+                <Reference>O95169</Reference>
+              </ExternalReference>
+              <ExternalReference id="144252">
+                <Source>Genatlas</Source>
+                <Reference>NDUFB8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39945">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25720770[PMID]</SourceOfValidation>
+          <Gene id="15260">
+            <Name lang="en">synthesis of cytochrome C oxidase 2</Name>
+            <Symbol>SCO2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SCO1L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="25663">
+                <Source>Genatlas</Source>
+                <Reference>SCO2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25665">
+                <Source>HGNC</Source>
+                <Reference>10604</Reference>
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+              <ExternalReference id="189374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000284194</Reference>
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+              <ExternalReference id="25664">
+                <Source>OMIM</Source>
+                <Reference>604272</Reference>
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+              <ExternalReference id="97166">
+                <Source>Reactome</Source>
+                <Reference>O43819</Reference>
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+              <ExternalReference id="33818">
+                <Source>SwissProt</Source>
+                <Reference>O43819</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>22q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23829769[PMID]</SourceOfValidation>
+          <Gene id="15572">
+            <Name lang="en">SURF1 cytochrome c oxidase assembly factor</Name>
+            <Symbol>SURF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SHY1</Synonym>
+              <Synonym lang="en">surfeit locus protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148290</Reference>
+              </ExternalReference>
+              <ExternalReference id="27173">
+                <Source>Genatlas</Source>
+                <Reference>SURF1</Reference>
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+              <ExternalReference id="27171">
+                <Source>HGNC</Source>
+                <Reference>11474</Reference>
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+              <ExternalReference id="27170">
+                <Source>OMIM</Source>
+                <Reference>185620</Reference>
+              </ExternalReference>
+              <ExternalReference id="97185">
+                <Source>Reactome</Source>
+                <Reference>Q15526</Reference>
+              </ExternalReference>
+              <ExternalReference id="32543">
+                <Source>SwissProt</Source>
+                <Reference>Q15526</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25937">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22036843[PMID]</SourceOfValidation>
+          <Gene id="16527">
+            <Name lang="en">NADH:ubiquinone oxidoreductase core subunit S2</Name>
+            <Symbol>NDUFS2</Symbol>
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+              <Synonym lang="en">CI-49</Synonym>
+              <Synonym lang="en">NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial</Synonym>
+              <Synonym lang="en">complex I 49kDa subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57207">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158864</Reference>
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+              <ExternalReference id="31714">
+                <Source>Genatlas</Source>
+                <Reference>NDUFS2</Reference>
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+              <ExternalReference id="31716">
+                <Source>HGNC</Source>
+                <Reference>7708</Reference>
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+              <ExternalReference id="31715">
+                <Source>OMIM</Source>
+                <Reference>602985</Reference>
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+              <ExternalReference id="57208">
+                <Source>Reactome</Source>
+                <Reference>O75306</Reference>
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+              <ExternalReference id="33592">
+                <Source>SwissProt</Source>
+                <Reference>O75306</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q23.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10945">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70472</ExpertLink>
+      <Name lang="en">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12529507[PMID]</SourceOfValidation>
+          <Gene id="16373">
+            <Name lang="en">leucine rich pentatricopeptide repeat containing</Name>
+            <Symbol>LRPPRC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GP130</Synonym>
+              <Synonym lang="en">LRP130</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59218">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138095</Reference>
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+              <ExternalReference id="31004">
+                <Source>Genatlas</Source>
+                <Reference>LRPPRC</Reference>
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+              <ExternalReference id="31006">
+                <Source>HGNC</Source>
+                <Reference>15714</Reference>
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+              <ExternalReference id="31005">
+                <Source>OMIM</Source>
+                <Reference>607544</Reference>
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+              <ExternalReference id="97231">
+                <Source>Reactome</Source>
+                <Reference>P42704</Reference>
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+              <ExternalReference id="33438">
+                <Source>SwissProt</Source>
+                <Reference>P42704</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10951">
+      <OrphaCode>70567</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=70567</ExpertLink>
+      <Name lang="en">Cholangiocarcinoma</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+            <Name lang="en">BRCA1 DNA repair associated</Name>
+            <Symbol>BRCA1</Symbol>
+            <SynonymList count="7">
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+              <Synonym lang="en">BRCC1</Synonym>
+              <Synonym lang="en">FANCS</Synonym>
+              <Synonym lang="en">Fanconi anemia, complementation group S</Synonym>
+              <Synonym lang="en">PPP1R53</Synonym>
+              <Synonym lang="en">RNF53</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012048</Reference>
+              </ExternalReference>
+              <ExternalReference id="26225">
+                <Source>Genatlas</Source>
+                <Reference>BRCA1</Reference>
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+              <ExternalReference id="26227">
+                <Source>HGNC</Source>
+                <Reference>1100</Reference>
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+                <Source>OMIM</Source>
+                <Reference>113705</Reference>
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+              <ExternalReference id="57780">
+                <Source>Reactome</Source>
+                <Reference>P38398</Reference>
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+                <Reference>P38398</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32576609[PMID]</SourceOfValidation>
+          <Gene id="15378">
+            <Name lang="en">BRCA2 DNA repair associated</Name>
+            <Symbol>BRCA2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">BRCC2</Synonym>
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">FAD1</Synonym>
+              <Synonym lang="en">XRCC11</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P51587</Reference>
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+              <ExternalReference id="57415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139618</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="26231">
+                <Source>HGNC</Source>
+                <Reference>1101</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600185</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24503127[PMID]</SourceOfValidation>
+          <Gene id="22888">
+            <Name lang="en">protein tyrosine phosphatase non-receptor type 3</Name>
+            <Symbol>PTPN3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PTPH1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P26045</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070159</Reference>
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+                <Reference>9655</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69735</ExpertLink>
+      <Name lang="en">Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
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+          <Gene id="15539">
+            <Name lang="en">SRY-box transcription factor 18</Name>
+            <Symbol>SOX18</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>601618</Reference>
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+              <ExternalReference id="32510">
+                <Source>SwissProt</Source>
+                <Reference>P35713</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203883</Reference>
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+                <Reference>11194</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Bosley-Salih-Alorainy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17875913[PMID]</SourceOfValidation>
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+            <Name lang="en">homeobox A1</Name>
+            <Symbol>HOXA1</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59217">
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+                <Reference>ENSG00000105991</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>HOXA1</Reference>
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+              <ExternalReference id="31280">
+                <Source>HGNC</Source>
+                <Reference>5099</Reference>
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+              <ExternalReference id="31279">
+                <Source>OMIM</Source>
+                <Reference>142955</Reference>
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+              <ExternalReference id="98070">
+                <Source>Reactome</Source>
+                <Reference>P49639</Reference>
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+              <ExternalReference id="33495">
+                <Source>SwissProt</Source>
+                <Reference>P49639</Reference>
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+                <GeneLocus>7p15.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10939">
+      <OrphaCode>69739</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69739</ExpertLink>
+      <Name lang="en">Athabaskan brainstem dysgenesis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18412118[PMID]</SourceOfValidation>
+          <Gene id="16435">
+            <Name lang="en">homeobox A1</Name>
+            <Symbol>HOXA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59217">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105991</Reference>
+              </ExternalReference>
+              <ExternalReference id="37141">
+                <Source>Genatlas</Source>
+                <Reference>HOXA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31280">
+                <Source>HGNC</Source>
+                <Reference>5099</Reference>
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+              <ExternalReference id="31279">
+                <Source>OMIM</Source>
+                <Reference>142955</Reference>
+              </ExternalReference>
+              <ExternalReference id="98070">
+                <Source>Reactome</Source>
+                <Reference>P49639</Reference>
+              </ExternalReference>
+              <ExternalReference id="33495">
+                <Source>SwissProt</Source>
+                <Reference>P49639</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17751">
+                <GeneLocus>7p15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10932">
+      <OrphaCode>69663</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69663</ExpertLink>
+      <Name lang="en">Low phospholipid-associated cholelithiasis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17562004[PMID]</SourceOfValidation>
+          <Gene id="15052">
+            <Name lang="en">ATP binding cassette subfamily B member 4</Name>
+            <Symbol>ABCB4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GBD1</Synonym>
+              <Synonym lang="en">MDR2</Synonym>
+              <Synonym lang="en">PFIC-3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005471</Reference>
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+              <ExternalReference id="24670">
+                <Source>Genatlas</Source>
+                <Reference>ABCB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="24672">
+                <Source>HGNC</Source>
+                <Reference>45</Reference>
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+              <ExternalReference id="24671">
+                <Source>OMIM</Source>
+                <Reference>171060</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>771</Reference>
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+              <ExternalReference id="59215">
+                <Source>Reactome</Source>
+                <Reference>P21439</Reference>
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+              <ExternalReference id="32329">
+                <Source>SwissProt</Source>
+                <Reference>P21439</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="10933">
+      <OrphaCode>69665</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69665</ExpertLink>
+      <Name lang="en">Intrahepatic cholestasis of pregnancy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23142591[PMID]</SourceOfValidation>
+          <Gene id="21199">
+            <Name lang="en">nuclear receptor subfamily 1 group H member 4</Name>
+            <Symbol>NR1H4</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FXR</Synonym>
+              <Synonym lang="en">HRR-1</Synonym>
+              <Synonym lang="en">HRR1</Synonym>
+              <Synonym lang="en">RIP14</Synonym>
+              <Synonym lang="en">bile acid receptor</Synonym>
+              <Synonym lang="en">farnesoid X receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="70298">
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+                <Reference>NR1H4</Reference>
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+              <ExternalReference id="70296">
+                <Source>HGNC</Source>
+                <Reference>7967</Reference>
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+              <ExternalReference id="83442">
+                <Source>IUPHAR</Source>
+                <Reference>603</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603826</Reference>
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+              <ExternalReference id="83440">
+                <Source>Reactome</Source>
+                <Reference>Q96RI1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96RI1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012504</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23022423[PMID]</SourceOfValidation>
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+            <Symbol>ABCB11</Symbol>
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+              <Synonym lang="en">ABC16</Synonym>
+              <Synonym lang="en">PFIC-2</Synonym>
+              <Synonym lang="en">PGY4</Synonym>
+              <Synonym lang="en">SPGP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>778</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073734</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ABCB11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>42</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Symbol>ABCB4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005471</Reference>
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+                <Reference>771</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ATPase phospholipid transporting 8B1</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081923</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Tyrosinemia type 3</Name>
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+            <Name lang="en">4-hydroxyphenylpyruvate dioxygenase</Name>
+            <Symbol>HPD</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">4HPPD</Synonym>
+              <Synonym lang="en">GLOD3</Synonym>
+              <Synonym lang="en">glyoxalase domain containing 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33277">
+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158104</Reference>
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+                <Reference>HPD</Reference>
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+                <Reference>5147</Reference>
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+      <Name lang="en">NON RARE IN EUROPE: Immunoglobulin A deficiency</Name>
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+            <Name lang="en">TNF receptor superfamily member 13B</Name>
+            <Symbol>TNFRSF13B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD267</Synonym>
+              <Synonym lang="en">IGAD2</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>O14836</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000240505</Reference>
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+              <ExternalReference id="27475">
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+                <Reference>TNFRSF13B</Reference>
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+                <Reference>18153</Reference>
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+              <Synonym lang="en">CD2 cytoplasmic tail-binding protein</Synonym>
+              <Synonym lang="en">CD2BP1</Synonym>
+              <Synonym lang="en">CD2BP1L</Synonym>
+              <Synonym lang="en">CD2BP1S</Synonym>
+              <Synonym lang="en">H-PIP</Synonym>
+              <Synonym lang="en">PAPAS</Synonym>
+              <Synonym lang="en">PEST phosphatase-interacting protein 1</Synonym>
+              <Synonym lang="en">PSTPIP</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140368</Reference>
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+                <Reference>9580</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Naegeli-Franceschetti-Jadassohn syndrome</Name>
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+            <Name lang="en">keratin 14</Name>
+            <Symbol>KRT14</Symbol>
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+              <Synonym lang="en">epidermolysis bullosa simplex, Dowling-Meara, Koebner</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>KRT14</Reference>
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+                <Reference>6416</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P02533</Reference>
+              </ExternalReference>
+              <ExternalReference id="33382">
+                <Source>SwissProt</Source>
+                <Reference>P02533</Reference>
+              </ExternalReference>
+              <ExternalReference id="59211">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186847</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9051">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10922">
+      <OrphaCode>69088</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69088</ExpertLink>
+      <Name lang="en">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16252">
+            <Name lang="en">inhibitor of nuclear factor kappa B kinase regulatory subunit gamma</Name>
+            <Symbol>IKBKG</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">FIP-3</Synonym>
+              <Synonym lang="en">FIP3</Synonym>
+              <Synonym lang="en">Fip3p</Synonym>
+              <Synonym lang="en">IKK-gamma</Synonym>
+              <Synonym lang="en">NEMO</Synonym>
+              <Synonym lang="en">ZC2HC9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269335</Reference>
+              </ExternalReference>
+              <ExternalReference id="30437">
+                <Source>Genatlas</Source>
+                <Reference>IKBKG</Reference>
+              </ExternalReference>
+              <ExternalReference id="30435">
+                <Source>HGNC</Source>
+                <Reference>5961</Reference>
+              </ExternalReference>
+              <ExternalReference id="30434">
+                <Source>OMIM</Source>
+                <Reference>300248</Reference>
+              </ExternalReference>
+              <ExternalReference id="57182">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6K9</Reference>
+              </ExternalReference>
+              <ExternalReference id="33317">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6K9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14447">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10919">
+      <OrphaCode>69085</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69085</ExpertLink>
+      <Name lang="en">Limb-mammary syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11462173[PMID]</SourceOfValidation>
+          <Gene id="15645">
+            <Name lang="en">tumor protein p63</Name>
+            <Symbol>TP63</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">EEC3</Synonym>
+              <Synonym lang="en">KET</Synonym>
+              <Synonym lang="en">NBP</Synonym>
+              <Synonym lang="en">OFC8</Synonym>
+              <Synonym lang="en">SHFM4</Synonym>
+              <Synonym lang="en">p51</Synonym>
+              <Synonym lang="en">p53CP</Synonym>
+              <Synonym lang="en">p63</Synonym>
+              <Synonym lang="en">p73H</Synonym>
+              <Synonym lang="en">p73L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57145">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073282</Reference>
+              </ExternalReference>
+              <ExternalReference id="36602">
+                <Source>Genatlas</Source>
+                <Reference>TP63</Reference>
+              </ExternalReference>
+              <ExternalReference id="37604">
+                <Source>HGNC</Source>
+                <Reference>15979</Reference>
+              </ExternalReference>
+              <ExternalReference id="27521">
+                <Source>OMIM</Source>
+                <Reference>603273</Reference>
+              </ExternalReference>
+              <ExternalReference id="97191">
+                <Source>Reactome</Source>
+                <Reference>Q9H3D4</Reference>
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+              <ExternalReference id="32617">
+                <Source>SwissProt</Source>
+                <Reference>Q9H3D4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22341">
+                <GeneLocus>3q28</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10918">
+      <OrphaCode>69084</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69084</ExpertLink>
+      <Name lang="en">Pure hair and nail ectodermal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16525032[PMID]</SourceOfValidation>
+          <Gene id="16327">
+            <Name lang="en">keratin 85</Name>
+            <Symbol>KRT85</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Hb-5</Synonym>
+              <Synonym lang="en">hard keratin type II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59208">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135443</Reference>
+              </ExternalReference>
+              <ExternalReference id="30789">
+                <Source>Genatlas</Source>
+                <Reference>KRT85</Reference>
+              </ExternalReference>
+              <ExternalReference id="30787">
+                <Source>HGNC</Source>
+                <Reference>6462</Reference>
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+              <ExternalReference id="30786">
+                <Source>OMIM</Source>
+                <Reference>602767</Reference>
+              </ExternalReference>
+              <ExternalReference id="33392">
+                <Source>SwissProt</Source>
+                <Reference>P78386</Reference>
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+              <ExternalReference id="126356">
+                <Source>Reactome</Source>
+                <Reference>P78386</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>12q13.13</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24714551[PMID]</SourceOfValidation>
+          <Gene id="19138">
+            <Name lang="en">keratin 74</Name>
+            <Symbol>KRT74</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">K6IRS4</Synonym>
+              <Synonym lang="en">KRT5C</Synonym>
+              <Synonym lang="en">KRT6IRS4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58819">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170484</Reference>
+              </ExternalReference>
+              <ExternalReference id="45558">
+                <Source>Genatlas</Source>
+                <Reference>KRT74</Reference>
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+              <ExternalReference id="45559">
+                <Source>HGNC</Source>
+                <Reference>28929</Reference>
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+              <ExternalReference id="45560">
+                <Source>OMIM</Source>
+                <Reference>608248</Reference>
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+              <ExternalReference id="45561">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTS7</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q7RTS7</Reference>
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+                <GeneLocus>12q13.13</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23063621[PMID]</SourceOfValidation>
+          <Gene id="21586">
+            <Name lang="en">homeobox C13</Name>
+            <Symbol>HOXC13</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83549">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123364</Reference>
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+              <ExternalReference id="74782">
+                <Source>Genatlas</Source>
+                <Reference>HOXC13</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5125</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142976</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P31276</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P31276</Reference>
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+    <Disorder id="10912">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=69076</ExpertLink>
+      <Name lang="en">Familial renal glucosuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 5 member 2</Name>
+            <Symbol>SLC5A2</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140675</Reference>
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+                <Reference>SLC5A2</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>916</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182381</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P31639</Reference>
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+      <OrphaCode>69063</OrphaCode>
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+      <Name lang="en">Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">membrane metalloendopeptidase</Name>
+            <Symbol>MME</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CALLA</Synonym>
+              <Synonym lang="en">CD10</Synonym>
+              <Synonym lang="en">NEP</Synonym>
+              <Synonym lang="en">enkephalinase</Synonym>
+              <Synonym lang="en">neprilysin</Synonym>
+              <Synonym lang="en">neutral endopeptidase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Reference>P08473</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08473</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196549</Reference>
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+                <Source>IUPHAR</Source>
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+          <SourceOfValidation>12434311[PMID]_12655555[PMID]</SourceOfValidation>
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+            <Name lang="en">AU RNA binding methylglutaconyl-CoA hydratase</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148090</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">3-methylglutaconic aciduria type 3</Name>
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+            <Name lang="en">mitochondrial contact site and cristae organizing system subunit 13</Name>
+            <Symbol>MICOS13</Symbol>
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+              <Synonym lang="en">MIC13</Synonym>
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+              <Synonym lang="en">QIL1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>616658</Reference>
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+              <ExternalReference id="132657">
+                <Source>SwissProt</Source>
+                <Reference>Q5XKP0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174917</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>33702</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301646[PMID]</SourceOfValidation>
+          <Gene id="16591">
+            <Name lang="en">outer mitochondrial membrane lipid metabolism regulator OPA3</Name>
+            <Symbol>OPA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">3-methylglutaconic aciduria type III</Synonym>
+              <Synonym lang="en">FLJ22187</Synonym>
+              <Synonym lang="en">MGA3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125741</Reference>
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+              <ExternalReference id="32018">
+                <Source>Genatlas</Source>
+                <Reference>OPA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32020">
+                <Source>HGNC</Source>
+                <Reference>8142</Reference>
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+              <ExternalReference id="32019">
+                <Source>OMIM</Source>
+                <Reference>606580</Reference>
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+              <ExternalReference id="33656">
+                <Source>SwissProt</Source>
+                <Reference>Q9H6K4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="10904">
+      <OrphaCode>67044</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=67044</ExpertLink>
+      <Name lang="en">Thrombocytopenia with congenital dyserythropoietic anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16102">
+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ERYF1</Synonym>
+              <Synonym lang="en">GATA-1</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">NFE1</Synonym>
+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59199">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102145</Reference>
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+              <ExternalReference id="29714">
+                <Source>Genatlas</Source>
+                <Reference>GATA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29716">
+                <Source>HGNC</Source>
+                <Reference>4170</Reference>
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+                <Source>OMIM</Source>
+                <Reference>305371</Reference>
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+              <ExternalReference id="59200">
+                <Source>Reactome</Source>
+                <Reference>P15976</Reference>
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+              <ExternalReference id="33117">
+                <Source>SwissProt</Source>
+                <Reference>P15976</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10905">
+      <OrphaCode>67045</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=67045</ExpertLink>
+      <Name lang="en">X-linked intellectual disability with isolated growth hormone deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>12428212[PMID]_22139958[PMID]</SourceOfValidation>
+          <Gene id="16787">
+            <Name lang="en">SRY-box transcription factor 3</Name>
+            <Symbol>SOX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134595</Reference>
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+              <ExternalReference id="34936">
+                <Source>Genatlas</Source>
+                <Reference>SOX3</Reference>
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+              <ExternalReference id="34933">
+                <Source>HGNC</Source>
+                <Reference>11199</Reference>
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+                <Source>OMIM</Source>
+                <Reference>313430</Reference>
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+              <ExternalReference id="97248">
+                <Source>Reactome</Source>
+                <Reference>P41225</Reference>
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+              <ExternalReference id="34935">
+                <Source>SwissProt</Source>
+                <Reference>P41225</Reference>
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+                <GeneLocus>Xq27.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="10902">
+      <OrphaCode>67042</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=67042</ExpertLink>
+      <Name lang="en">Late-onset retinal degeneration</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12944416[PMID]</SourceOfValidation>
+          <Gene id="16816">
+            <Name lang="en">C1q and TNF related 5</Name>
+            <Symbol>C1QTNF5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CTRP5</Synonym>
+              <Synonym lang="en">DKFZp586B0621</Synonym>
+              <Synonym lang="en">LORD</Synonym>
+              <Synonym lang="en">complement-c1q tumor necrosis factor-related protein 5</Synonym>
+              <Synonym lang="en">myonectin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59198">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000223953</Reference>
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+              <ExternalReference id="35082">
+                <Source>Genatlas</Source>
+                <Reference>C1QTNF5</Reference>
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+              <ExternalReference id="35081">
+                <Source>HGNC</Source>
+                <Reference>14344</Reference>
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+              <ExternalReference id="35084">
+                <Source>OMIM</Source>
+                <Reference>608752</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BXJ0</Reference>
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+                <GeneLocus>11q23.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10901">
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+      <Name lang="en">Hyaluronidase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10339581[PMID]</SourceOfValidation>
+          <Gene id="16236">
+            <Name lang="en">hyaluronidase 1</Name>
+            <Symbol>HYAL1</Symbol>
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+              <Synonym lang="en">FUS2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q12794</Reference>
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+              <ExternalReference id="33300">
+                <Source>SwissProt</Source>
+                <Reference>Q12794</Reference>
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+              <ExternalReference id="59197">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114378</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10899">
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+      <Name lang="en">B-cell chronic lymphocytic leukemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">purinergic receptor P2X 7</Name>
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+              <Synonym lang="en">MGC20089</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>P2RX7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99572</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q99572</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089041</Reference>
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+            <Name lang="en">immunoglobulin heavy variable 3-21</Name>
+            <Symbol>IGHV3-21</Symbol>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Reference>A0A0B4J1V1</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="15408">
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+            <Symbol>CCND1</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000152213</Reference>
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+                <Reference>24046</Reference>
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+          <Gene id="16246">
+            <Name lang="en">immunoglobulin heavy constant gamma 1 (G1m marker)</Name>
+            <Symbol>IGHG1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59193">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000211896</Reference>
+              </ExternalReference>
+              <ExternalReference id="30408">
+                <Source>Genatlas</Source>
+                <Reference>IGHG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30406">
+                <Source>HGNC</Source>
+                <Reference>5525</Reference>
+              </ExternalReference>
+              <ExternalReference id="30405">
+                <Source>OMIM</Source>
+                <Reference>147100</Reference>
+              </ExternalReference>
+              <ExternalReference id="59194">
+                <Source>Reactome</Source>
+                <Reference>P01857</Reference>
+              </ExternalReference>
+              <ExternalReference id="33311">
+                <Source>SwissProt</Source>
+                <Reference>P01857</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8917">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23502782[PMID]</SourceOfValidation>
+          <Gene id="22138">
+            <Name lang="en">protection of telomeres 1</Name>
+            <Symbol>POT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZp586D211</Synonym>
+              <Synonym lang="en">hPot1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83822">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128513</Reference>
+              </ExternalReference>
+              <ExternalReference id="79360">
+                <Source>Genatlas</Source>
+                <Reference>POT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="79358">
+                <Source>HGNC</Source>
+                <Reference>17284</Reference>
+              </ExternalReference>
+              <ExternalReference id="79359">
+                <Source>OMIM</Source>
+                <Reference>606478</Reference>
+              </ExternalReference>
+              <ExternalReference id="83821">
+                <Source>Reactome</Source>
+                <Reference>Q9NUX5</Reference>
+              </ExternalReference>
+              <ExternalReference id="79361">
+                <Source>SwissProt</Source>
+                <Reference>Q9NUX5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12577">
+                <GeneLocus>7q31.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26466571[PMID]_26675346[PMID]</SourceOfValidation>
+          <Gene id="23639">
+            <Name lang="en">ribosomal protein S15</Name>
+            <Symbol>RPS15</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">40S ribosomal protein S15</Synonym>
+              <Synonym lang="en">MGC111130</Synonym>
+              <Synonym lang="en">RIG</Synonym>
+              <Synonym lang="en">S15</Synonym>
+              <Synonym lang="en">homolog of rat insulinoma</Synonym>
+              <Synonym lang="en">insulinoma protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115268</Reference>
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+              <ExternalReference id="98898">
+                <Source>Genatlas</Source>
+                <Reference>RPS15</Reference>
+              </ExternalReference>
+              <ExternalReference id="98896">
+                <Source>HGNC</Source>
+                <Reference>10388</Reference>
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+              <ExternalReference id="98897">
+                <Source>OMIM</Source>
+                <Reference>180535</Reference>
+              </ExternalReference>
+              <ExternalReference id="98900">
+                <Source>Reactome</Source>
+                <Reference>P62841</Reference>
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+              <ExternalReference id="98899">
+                <Source>SwissProt</Source>
+                <Reference>P62841</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18827">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26466571[PMID]</SourceOfValidation>
+          <Gene id="23640">
+            <Name lang="en">IKAROS family zinc finger 3</Name>
+            <Symbol>IKZF3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Aiolos</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98907">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161405</Reference>
+              </ExternalReference>
+              <ExternalReference id="98905">
+                <Source>Genatlas</Source>
+                <Reference>IKZF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="98903">
+                <Source>HGNC</Source>
+                <Reference>13178</Reference>
+              </ExternalReference>
+              <ExternalReference id="98904">
+                <Source>OMIM</Source>
+                <Reference>606221</Reference>
+              </ExternalReference>
+              <ExternalReference id="98906">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKT9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143897">
+                <Source>Reactome</Source>
+                <Reference>Q9UKT9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39259">
+                <GeneLocus>17q12-q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10897">
+      <OrphaCode>67036</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=67036</ExpertLink>
+      <Name lang="en">Autosomal dominant optic atrophy and cataract</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15342707[PMID]</SourceOfValidation>
+          <Gene id="16591">
+            <Name lang="en">outer mitochondrial membrane lipid metabolism regulator OPA3</Name>
+            <Symbol>OPA3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">3-methylglutaconic aciduria type III</Synonym>
+              <Synonym lang="en">FLJ22187</Synonym>
+              <Synonym lang="en">MGA3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125741</Reference>
+              </ExternalReference>
+              <ExternalReference id="32018">
+                <Source>Genatlas</Source>
+                <Reference>OPA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32020">
+                <Source>HGNC</Source>
+                <Reference>8142</Reference>
+              </ExternalReference>
+              <ExternalReference id="32019">
+                <Source>OMIM</Source>
+                <Reference>606580</Reference>
+              </ExternalReference>
+              <ExternalReference id="33656">
+                <Source>SwissProt</Source>
+                <Reference>Q9H6K4</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.32</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10893">
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+      <Name lang="en">Diaphanospondylodysostosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20869035[PMID]_21990102[PMID]</SourceOfValidation>
+          <Gene id="19487">
+            <Name lang="en">BMP binding endothelial regulator</Name>
+            <Symbol>BMPER</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CRIM3</Synonym>
+              <Synonym lang="en">Cv2</Synonym>
+              <Synonym lang="en">crossveinless-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59186">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164619</Reference>
+              </ExternalReference>
+              <ExternalReference id="49332">
+                <Source>Genatlas</Source>
+                <Reference>BMPER</Reference>
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+              <ExternalReference id="49333">
+                <Source>HGNC</Source>
+                <Reference>24154</Reference>
+              </ExternalReference>
+              <ExternalReference id="49334">
+                <Source>OMIM</Source>
+                <Reference>608699</Reference>
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+              <ExternalReference id="49335">
+                <Source>SwissProt</Source>
+                <Reference>Q8N8U9</Reference>
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+            <LocusList count="1">
+              <Locus id="11257">
+                <GeneLocus>7p14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10892">
+      <OrphaCode>66634</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=66634</ExpertLink>
+      <Name lang="en">Dilated cardiomyopathy with ataxia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16055927[PMID]</SourceOfValidation>
+          <Gene id="17725">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member C19</Name>
+            <Symbol>DNAJC19</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Pam18</Synonym>
+              <Synonym lang="en">TIMM14</Synonym>
+              <Synonym lang="en">Tim14</Synonym>
+              <Synonym lang="en">mitochondrial import inner membrane translocase subunit TIM14</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59184">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205981</Reference>
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+              <ExternalReference id="39246">
+                <Source>Genatlas</Source>
+                <Reference>DNAJC19</Reference>
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+              <ExternalReference id="39247">
+                <Source>HGNC</Source>
+                <Reference>30528</Reference>
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+              <ExternalReference id="39248">
+                <Source>OMIM</Source>
+                <Reference>608977</Reference>
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+              <ExternalReference id="59185">
+                <Source>Reactome</Source>
+                <Reference>Q96DA6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96DA6</Reference>
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+              <Locus id="10377">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10889">
+      <OrphaCode>66631</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=66631</ExpertLink>
+      <Name lang="en">CEDNIK syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15531">
+            <Name lang="en">synaptosome associated protein 29</Name>
+            <Symbol>SNAP29</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">SNAP-29</Synonym>
+              <Synonym lang="en">soluble 29 kDa NSF attachment protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100295">
+                <Source>Reactome</Source>
+                <Reference>O95721</Reference>
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+              <ExternalReference id="59183">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099940</Reference>
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+              <ExternalReference id="26978">
+                <Source>Genatlas</Source>
+                <Reference>SNAP29</Reference>
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+                <Reference>11133</Reference>
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+              <ExternalReference id="26975">
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+                <Reference>604202</Reference>
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+              <ExternalReference id="32502">
+                <Source>SwissProt</Source>
+                <Reference>O95721</Reference>
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+                <GeneLocus>22q11.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10887">
+      <OrphaCode>66629</OrphaCode>
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+      <Name lang="en">Goldberg-Shprintzen megacolon syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15883926[PMID]_23427148[PMID]</SourceOfValidation>
+          <Gene id="16302">
+            <Name lang="en">kinesin family binding protein</Name>
+            <Symbol>KIFBP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP586B0923</Synonym>
+              <Synonym lang="en">KBP</Synonym>
+              <Synonym lang="en">TTC20</Synonym>
+              <Synonym lang="en">kinesin binding protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59182">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198954</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23419</Reference>
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+              <ExternalReference id="30671">
+                <Source>OMIM</Source>
+                <Reference>609367</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIF1BP</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96EK5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10886">
+      <OrphaCode>66628</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=66628</ExpertLink>
+      <Name lang="en">Obesity due to congenital leptin deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26567097[PMID]</SourceOfValidation>
+          <Gene id="16350">
+            <Name lang="en">leptin</Name>
+            <Symbol>LEP</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59180">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174697</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>LEP</Reference>
+              </ExternalReference>
+              <ExternalReference id="30897">
+                <Source>HGNC</Source>
+                <Reference>6553</Reference>
+              </ExternalReference>
+              <ExternalReference id="30896">
+                <Source>OMIM</Source>
+                <Reference>164160</Reference>
+              </ExternalReference>
+              <ExternalReference id="59181">
+                <Source>Reactome</Source>
+                <Reference>P41159</Reference>
+              </ExternalReference>
+              <ExternalReference id="33415">
+                <Source>SwissProt</Source>
+                <Reference>P41159</Reference>
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+            <LocusList count="1">
+              <Locus id="21367">
+                <GeneLocus>7q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="10864">
+      <OrphaCode>65282</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=65282</ExpertLink>
+      <Name lang="en">Carvajal syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11063735[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
+              </ExternalReference>
+              <ExternalReference id="28695">
+                <Source>Genatlas</Source>
+                <Reference>DSP</Reference>
+              </ExternalReference>
+              <ExternalReference id="28693">
+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
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+              <ExternalReference id="28692">
+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
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+              <ExternalReference id="59099">
+                <Source>Reactome</Source>
+                <Reference>P15924</Reference>
+              </ExternalReference>
+              <ExternalReference id="32906">
+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8255">
+                <GeneLocus>6p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10867">
+      <OrphaCode>65285</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=65285</ExpertLink>
+      <Name lang="en">Lhermitte-Duclos disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14566704[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+              <ExternalReference id="25221">
+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
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+                <Reference>PTEN</Reference>
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+            <LocusList count="1">
+              <Locus id="66529">
+                <GeneLocus>10q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10866">
+      <OrphaCode>65284</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=65284</ExpertLink>
+      <Name lang="en">Biotin-thiamine-responsive basal ganglia disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24260777[PMID]</SourceOfValidation>
+          <Gene id="15305">
+            <Name lang="en">solute carrier family 19 member 3</Name>
+            <Symbol>SLC19A3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">THTR2</Synonym>
+              <Synonym lang="en">thiamine transporter 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="33863">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZV2</Reference>
+              </ExternalReference>
+              <ExternalReference id="59171">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135917</Reference>
+              </ExternalReference>
+              <ExternalReference id="25883">
+                <Source>Genatlas</Source>
+                <Reference>SLC19A3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25885">
+                <Source>HGNC</Source>
+                <Reference>16266</Reference>
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+              <ExternalReference id="25884">
+                <Source>OMIM</Source>
+                <Reference>606152</Reference>
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+              <ExternalReference id="59172">
+                <Source>Reactome</Source>
+                <Reference>Q9BZV2</Reference>
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+              <ExternalReference id="193522">
+                <Source>IUPHAR</Source>
+                <Reference>1016</Reference>
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+            <LocusList count="1">
+              <Locus id="66453">
+                <GeneLocus>2q36.3</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10869">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=65287</ExpertLink>
+      <Name lang="en">Beta-ureidopropionase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15385443[PMID]</SourceOfValidation>
+          <Gene id="15697">
+            <Name lang="en">beta-ureidopropionase 1</Name>
+            <Symbol>UPB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BUP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59173">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100024</Reference>
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+              <ExternalReference id="27766">
+                <Source>Genatlas</Source>
+                <Reference>UPB1</Reference>
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+              <ExternalReference id="27764">
+                <Source>HGNC</Source>
+                <Reference>16297</Reference>
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+              <ExternalReference id="27763">
+                <Source>OMIM</Source>
+                <Reference>606673</Reference>
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+              <ExternalReference id="59174">
+                <Source>Reactome</Source>
+                <Reference>Q9UBR1</Reference>
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+              <ExternalReference id="32669">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBR1</Reference>
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+                <GeneLocus>22q11.23</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10870">
+      <OrphaCode>65288</OrphaCode>
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+      <Name lang="en">Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15543146[PMID]_20301317[PMID]</SourceOfValidation>
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+            <Name lang="en">pancreas associated transcription factor 1a</Name>
+            <Symbol>PTF1A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PTF1-p48</Synonym>
+              <Synonym lang="en">bHLHa29</Synonym>
+              <Synonym lang="en">p48</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168267</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PTF1A</Reference>
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+              <ExternalReference id="25228">
+                <Source>HGNC</Source>
+                <Reference>23734</Reference>
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+              <ExternalReference id="25227">
+                <Source>OMIM</Source>
+                <Reference>607194</Reference>
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+              <ExternalReference id="59176">
+                <Source>Reactome</Source>
+                <Reference>Q7RTS3</Reference>
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+              <ExternalReference id="33691">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTS3</Reference>
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+      <Name lang="en">Monomelic amyotrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000197603</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C5orf42</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25801</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22264561[PMID]</SourceOfValidation>
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+                <Reference>Q9P2H0</Reference>
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+      <Name lang="en">Multiple self-healing squamous epithelioma</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transforming growth factor beta receptor 1</Name>
+            <Symbol>TGFBR1</Symbol>
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+              <Synonym lang="en">ALK-5</Synonym>
+              <Synonym lang="en">ALK5</Synonym>
+              <Synonym lang="en">TBR-i</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106799</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal dominant multiple pterygium syndrome</Name>
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+            <Name lang="en">myosin heavy chain 3</Name>
+            <Symbol>MYH3</Symbol>
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+              <Synonym lang="en">MYHSE1</Synonym>
+              <Synonym lang="en">SMHCE</Synonym>
+              <Synonym lang="en">muscle embryonic myosin heavy chain 3</Synonym>
+              <Synonym lang="en">myosin, skeletal, heavy chain, embryonic 1</Synonym>
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+            <GeneType id="25993">
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+                <Reference>7573</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Carpenter syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">multiple EGF like domains 8</Name>
+            <Symbol>MEGF8</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105429</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3233</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604267</Reference>
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+                <Reference>Q7Z7M0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17503333[PMID]_21412941[PMID]</SourceOfValidation>
+          <Gene id="16438">
+            <Name lang="en">RAB23, member RAS oncogene family</Name>
+            <Symbol>RAB23</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135054">
+                <Source>Reactome</Source>
+                <Reference>Q9ULC3</Reference>
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+              <ExternalReference id="59179">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112210</Reference>
+              </ExternalReference>
+              <ExternalReference id="36561">
+                <Source>Genatlas</Source>
+                <Reference>RAB23</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14263</Reference>
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+              <ExternalReference id="31291">
+                <Source>OMIM</Source>
+                <Reference>606144</Reference>
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+              <ExternalReference id="33498">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULC3</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>6p12.1-p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10852">
+      <OrphaCode>64748</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64748</ExpertLink>
+      <Name lang="en">Dejerine-Sottas syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18698610[PMID]_12090401[PMID]</SourceOfValidation>
+          <Gene id="15114">
+            <Name lang="en">peripheral myelin protein 22</Name>
+            <Symbol>PMP22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
+              <Synonym lang="en">HNPP</Synonym>
+              <Synonym lang="en">Sp110</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143117">
+                <Source>Reactome</Source>
+                <Reference>Q01453</Reference>
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+              <ExternalReference id="56949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
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+              <ExternalReference id="24974">
+                <Source>Genatlas</Source>
+                <Reference>PMP22</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9118</Reference>
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+              <ExternalReference id="24975">
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+                <Reference>601097</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11133365[PMID]</SourceOfValidation>
+          <Gene id="15158">
+            <Name lang="en">periaxin</Name>
+            <Symbol>PRX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1620</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105227</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>13797</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BXM0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11523566[PMID]</SourceOfValidation>
+          <Gene id="15918">
+            <Name lang="en">early growth response 2</Name>
+            <Symbol>EGR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Krox-20 homolog, Drosophila</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122877</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EGR2</Reference>
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+              <ExternalReference id="28804">
+                <Source>HGNC</Source>
+                <Reference>3239</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P11161</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8816708[PMID]_12242557[PMID]</SourceOfValidation>
+          <Gene id="16463">
+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
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+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000158887</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Hereditary motor and sensory neuropathy type 5</Name>
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+          <Gene id="16394">
+            <Name lang="en">mitofusin 2</Name>
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+              <Synonym lang="en">CPRP1</Synonym>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Heme oxygenase-1 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="61965">
+                <Source>SwissProt</Source>
+                <Reference>Q8WYR1</Reference>
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+              <ExternalReference id="190560">
+                <Source>IUPHAR</Source>
+                <Reference>2506</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60529">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10858">
+      <OrphaCode>64754</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64754</ExpertLink>
+      <Name lang="en">Nevus comedonicus syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27153399[PMID]</SourceOfValidation>
+          <Gene id="23883">
+            <Name lang="en">NIMA related kinase 9</Name>
+            <Symbol>NEK9</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DKFZp434D0935</Synonym>
+              <Synonym lang="en">MGC16714</Synonym>
+              <Synonym lang="en">NERCC</Synonym>
+              <Synonym lang="en">NERCC1</Synonym>
+              <Synonym lang="en">Nek8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="103855">
+                <Source>HGNC</Source>
+                <Reference>18591</Reference>
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+              <ExternalReference id="103856">
+                <Source>OMIM</Source>
+                <Reference>609798</Reference>
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+              <ExternalReference id="103857">
+                <Source>Genatlas</Source>
+                <Reference>NEK9</Reference>
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+              <ExternalReference id="103858">
+                <Source>SwissProt</Source>
+                <Reference>Q8TD19</Reference>
+              </ExternalReference>
+              <ExternalReference id="103859">
+                <Source>Reactome</Source>
+                <Reference>Q8TD19</Reference>
+              </ExternalReference>
+              <ExternalReference id="103860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119638</Reference>
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+              <ExternalReference id="103861">
+                <Source>IUPHAR</Source>
+                <Reference>2124</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="28331">
+      <OrphaCode>562528</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=562528</ExpertLink>
+      <Name lang="en">Congenital limbs-face contractures-hypotonia-developmental delay syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31410997[PMID]</SourceOfValidation>
+          <Gene id="22569">
+            <Name lang="en">sodium leak channel, non-selective</Name>
+            <Symbol>NALCN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CanIon</Synonym>
+              <Synonym lang="en">bA430M15.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="84606">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102452</Reference>
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+              <ExternalReference id="84444">
+                <Source>Genatlas</Source>
+                <Reference>NALCN</Reference>
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+              <ExternalReference id="84442">
+                <Source>HGNC</Source>
+                <Reference>19082</Reference>
+              </ExternalReference>
+              <ExternalReference id="84443">
+                <Source>OMIM</Source>
+                <Reference>611549</Reference>
+              </ExternalReference>
+              <ExternalReference id="84605">
+                <Source>Reactome</Source>
+                <Reference>Q8IZF0</Reference>
+              </ExternalReference>
+              <ExternalReference id="84445">
+                <Source>SwissProt</Source>
+                <Reference>Q8IZF0</Reference>
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+              <ExternalReference id="190607">
+                <Source>IUPHAR</Source>
+                <Reference>750</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q32.3-q33.1</GeneLocus>
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+            </LocusList>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10859">
+      <OrphaCode>64755</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64755</ExpertLink>
+      <Name lang="en">Becker nevus syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28347698[PMID]</SourceOfValidation>
+          <Gene id="17409">
+            <Name lang="en">actin beta</Name>
+            <Symbol>ACTB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ß-actin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59289">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075624</Reference>
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+              <ExternalReference id="37612">
+                <Source>Genatlas</Source>
+                <Reference>ACTB</Reference>
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+              <ExternalReference id="37614">
+                <Source>HGNC</Source>
+                <Reference>132</Reference>
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+              <ExternalReference id="37613">
+                <Source>OMIM</Source>
+                <Reference>102630</Reference>
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+              <ExternalReference id="59290">
+                <Source>Reactome</Source>
+                <Reference>P60709</Reference>
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+              <ExternalReference id="37615">
+                <Source>SwissProt</Source>
+                <Reference>P60709</Reference>
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+            <LocusList count="1">
+              <Locus id="21609">
+                <GeneLocus>7p22.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28333">
+      <OrphaCode>562559</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=562559</ExpertLink>
+      <Name lang="en">Anterior maxillary protrusion-strabismus-intellectual disability syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17618476[PMID]_21035105[PMID]</SourceOfValidation>
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+            <Name lang="en">sine oculis binding protein homolog</Name>
+            <Symbol>SOBP</Symbol>
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+              <Synonym lang="en">FLJ10159</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="132475">
+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>SOBP</Reference>
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+              <ExternalReference id="133199">
+                <Source>SwissProt</Source>
+                <Reference>A7XYQ1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29256</Reference>
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+              <ExternalReference id="134042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112320</Reference>
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+                <GeneLocus>6q21</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28332">
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+      <Name lang="en">Autosomal recessive extra-oral halitosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">selenium binding protein 1</Name>
+            <Symbol>SELENBP1</Symbol>
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+              <Synonym lang="en">LPSB</Synonym>
+              <Synonym lang="en">hSBP</Synonym>
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+              <Synonym lang="en">methanethiol oxidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143416</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13228</Reference>
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+              <ExternalReference id="179085">
+                <Source>Reactome</Source>
+                <Reference>Q13228</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome</Name>
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+            <Name lang="en">transmembrane protein 94</Name>
+            <Symbol>TMEM94</Symbol>
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+                <Reference>ENSG00000177728</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12767</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q12767</Reference>
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+      <Name lang="en">Childhood absence epilepsy</Name>
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+            <Symbol>GABRA1</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P14867</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000022355</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
+                <Reference>P28472</Reference>
+              </ExternalReference>
+              <ExternalReference id="37083">
+                <Source>SwissProt</Source>
+                <Reference>P28472</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11463517[PMID]</SourceOfValidation>
+          <Gene id="17745">
+            <Name lang="en">Jrk helix-turn-helix protein</Name>
+            <Symbol>JRK</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JH8</Synonym>
+              <Synonym lang="en">jerky</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>O75564</Reference>
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+              <ExternalReference id="39480">
+                <Source>HGNC</Source>
+                <Reference>6199</Reference>
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+              <ExternalReference id="39481">
+                <Source>OMIM</Source>
+                <Reference>603210</Reference>
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+              <ExternalReference id="39482">
+                <Source>SwissProt</Source>
+                <Reference>O75564</Reference>
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+              <ExternalReference id="56777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234616</Reference>
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+              <ExternalReference id="39479">
+                <Source>Genatlas</Source>
+                <Reference>JRK</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12891677[PMID]</SourceOfValidation>
+          <Gene id="20677">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 H</Name>
+            <Symbol>CACNA1H</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Cav3.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59164">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196557</Reference>
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+              <ExternalReference id="54963">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1H</Reference>
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+              <ExternalReference id="54961">
+                <Source>HGNC</Source>
+                <Reference>1395</Reference>
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+              <ExternalReference id="83228">
+                <Source>IUPHAR</Source>
+                <Reference>536</Reference>
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+              <ExternalReference id="54962">
+                <Source>OMIM</Source>
+                <Reference>607904</Reference>
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+              <ExternalReference id="59165">
+                <Source>Reactome</Source>
+                <Reference>O95180</Reference>
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+              <ExternalReference id="54964">
+                <Source>SwissProt</Source>
+                <Reference>O95180</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10843">
+      <OrphaCode>64739</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64739</ExpertLink>
+      <Name lang="en">Ovarian hyperstimulation syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19573286[PMID]_18248882[PMID]</SourceOfValidation>
+          <Gene id="16077">
+            <Name lang="en">follicle stimulating hormone receptor</Name>
+            <Symbol>FSHR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FSHRO</Synonym>
+              <Synonym lang="en">LGR1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57912">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170820</Reference>
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+              <ExternalReference id="29597">
+                <Source>Genatlas</Source>
+                <Reference>FSHR</Reference>
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+              <ExternalReference id="29595">
+                <Source>HGNC</Source>
+                <Reference>3969</Reference>
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+              <ExternalReference id="82919">
+                <Source>IUPHAR</Source>
+                <Reference>253</Reference>
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+              <ExternalReference id="29594">
+                <Source>OMIM</Source>
+                <Reference>136435</Reference>
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+              <ExternalReference id="57913">
+                <Source>Reactome</Source>
+                <Reference>P23945</Reference>
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+              <ExternalReference id="33092">
+                <Source>SwissProt</Source>
+                <Reference>P23945</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10842">
+      <OrphaCode>64738</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64738</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Non rare thrombophilia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="10">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2437584[PMID]</SourceOfValidation>
+          <Gene id="15143">
+            <Name lang="en">protein C, inactivator of coagulation factors Va and VIIIa</Name>
+            <Symbol>PROC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prepro-protein C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58593">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115718</Reference>
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+              <ExternalReference id="25115">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="25117">
+                <Source>HGNC</Source>
+                <Reference>9451</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2396</Reference>
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+              <ExternalReference id="51435">
+                <Source>OMIM</Source>
+                <Reference>612283</Reference>
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+              <ExternalReference id="58594">
+                <Source>Reactome</Source>
+                <Reference>P04070</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04070</Reference>
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+                <GeneLocus>2q14.3</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28587373[PMID]</SourceOfValidation>
+          <Gene id="15148">
+            <Name lang="en">protein S</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>9456</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176880</Reference>
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+              <ExternalReference id="58500">
+                <Source>Reactome</Source>
+                <Reference>P07225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07225</Reference>
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+              <ExternalReference id="58499">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184500</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7647779[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17408404[PMID]_18022930[PMID]</SourceOfValidation>
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+            <Name lang="en">coagulation factor XII</Name>
+            <Symbol>F12</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131187</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Protein-Z dependent proteinase inhibitor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Reference>605271</Reference>
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+              <ExternalReference id="104221">
+                <Source>Genatlas</Source>
+                <Reference>SERPINA10</Reference>
+              </ExternalReference>
+              <ExternalReference id="104222">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK55</Reference>
+              </ExternalReference>
+              <ExternalReference id="104223">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140093</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37659">
+                <GeneLocus>14q32.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>6890710[PMID]</SourceOfValidation>
+          <Gene id="25493">
+            <Name lang="en">plasminogen activator, tissue type</Name>
+            <Symbol>PLAT</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="144645">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104368</Reference>
+              </ExternalReference>
+              <ExternalReference id="144646">
+                <Source>SwissProt</Source>
+                <Reference>P00750</Reference>
+              </ExternalReference>
+              <ExternalReference id="144647">
+                <Source>OMIM</Source>
+                <Reference>173370</Reference>
+              </ExternalReference>
+              <ExternalReference id="144648">
+                <Source>Genatlas</Source>
+                <Reference>PLAT</Reference>
+              </ExternalReference>
+              <ExternalReference id="144649">
+                <Source>Reactome</Source>
+                <Reference>P00750</Reference>
+              </ExternalReference>
+              <ExternalReference id="147480">
+                <Source>IUPHAR</Source>
+                <Reference>2392</Reference>
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+              <ExternalReference id="144644">
+                <Source>HGNC</Source>
+                <Reference>9051</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="42289">
+                <GeneLocus>8p11.21</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10844">
+      <OrphaCode>64740</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=64740</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Recurrent acute pancreatitis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25383785[PMID]_25003218[PMID]</SourceOfValidation>
+          <Gene id="16859">
+            <Name lang="en">chymotrypsin C</Name>
+            <Symbol>CTRC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CLCR</Synonym>
+              <Synonym lang="en">ELA4</Synonym>
+              <Synonym lang="en">caldecrin</Synonym>
+              <Synonym lang="en">chymotrypsinogen C</Synonym>
+              <Synonym lang="en">elastase 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162438</Reference>
+              </ExternalReference>
+              <ExternalReference id="35249">
+                <Source>Genatlas</Source>
+                <Reference>CTRC</Reference>
+              </ExternalReference>
+              <ExternalReference id="35246">
+                <Source>HGNC</Source>
+                <Reference>2523</Reference>
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+              <ExternalReference id="83048">
+                <Source>IUPHAR</Source>
+                <Reference>2341</Reference>
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+              <ExternalReference id="35248">
+                <Source>OMIM</Source>
+                <Reference>601405</Reference>
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+              <ExternalReference id="97250">
+                <Source>Reactome</Source>
+                <Reference>Q99895</Reference>
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+              <ExternalReference id="35247">
+                <Source>SwissProt</Source>
+                <Reference>Q99895</Reference>
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+          </Gene>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25383785[PMID]_25003218[PMID]</SourceOfValidation>
+          <Gene id="15549">
+            <Name lang="en">serine peptidase inhibitor Kazal type 1</Name>
+            <Symbol>SPINK1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PCTT</Synonym>
+              <Synonym lang="en">PSTI</Synonym>
+              <Synonym lang="en">Spink3</Synonym>
+              <Synonym lang="en">TATI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164266</Reference>
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+              <ExternalReference id="27065">
+                <Source>Genatlas</Source>
+                <Reference>SPINK1</Reference>
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+              <ExternalReference id="35136">
+                <Source>HGNC</Source>
+                <Reference>11244</Reference>
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+              <ExternalReference id="27062">
+                <Source>OMIM</Source>
+                <Reference>167790</Reference>
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+              <ExternalReference id="32520">
+                <Source>SwissProt</Source>
+                <Reference>P00995</Reference>
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+            <LocusList count="1">
+              <Locus id="7619">
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+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25383785[PMID]_25003218[PMID]</SourceOfValidation>
+          <Gene id="15155">
+            <Name lang="en">serine protease 1</Name>
+            <Symbol>PRSS1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57863">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204983</Reference>
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+              <ExternalReference id="25173">
+                <Source>Genatlas</Source>
+                <Reference>PRSS1</Reference>
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+              <ExternalReference id="25171">
+                <Source>HGNC</Source>
+                <Reference>9475</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2397</Reference>
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+              <ExternalReference id="25170">
+                <Source>OMIM</Source>
+                <Reference>276000</Reference>
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+              <ExternalReference id="57864">
+                <Source>Reactome</Source>
+                <Reference>P07477</Reference>
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+              <ExternalReference id="33266">
+                <Source>SwissProt</Source>
+                <Reference>P07477</Reference>
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+                <GeneLocus>7q34</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="10819">
+      <OrphaCode>63269</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=63269</ExpertLink>
+      <Name lang="en">Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis</Name>
+      <DisorderType id="21450">
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+          <SourceOfValidation>15483095[PMID]</SourceOfValidation>
+          <Gene id="15124">
+            <Name lang="en">cytochrome p450 oxidoreductase</Name>
+            <Symbol>POR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CYPOR</Synonym>
+              <Synonym lang="en">FLJ26468</Synonym>
+              <Synonym lang="en">NADPH--hemoprotein reductase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100287">
+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127948</Reference>
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+                <Reference>9208</Reference>
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+              <ExternalReference id="25024">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P16435</Reference>
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+    <Disorder id="10817">
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+      <Name lang="en">Craniorachischisis</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">dishevelled binding antagonist of beta catenin 1</Name>
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+              <Synonym lang="en">DAPPER1</Synonym>
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+              <Synonym lang="en">HDPR1</Synonym>
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+              <ExternalReference id="83523">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165617</Reference>
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+                <Source>HGNC</Source>
+                <Reference>17748</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607861</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NYF0</Reference>
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+      <Name lang="en">Angel-shaped phalango-epiphyseal dysplasia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>601146</Reference>
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+              <ExternalReference id="82927">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P43026</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+      <Name lang="en">Distal myopathy with posterior leg and anterior hand involvement</Name>
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+            <Name lang="en">filamin C</Name>
+            <Symbol>FLNC</Symbol>
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+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">ABPL</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">gamma filamin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128591</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3756</Reference>
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+                <Reference>102565</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14315</Reference>
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+                <Reference>Q14315</Reference>
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+      <Name lang="en">Acrocapitofemoral dysplasia</Name>
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+            <Name lang="en">Indian hedgehog signaling molecule</Name>
+            <Symbol>IHH</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163501</Reference>
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+      <Name lang="en">Megalencephaly-capillary malformation-polymicrogyria syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P42336</Reference>
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+              <ExternalReference id="58415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121879</Reference>
+              </ExternalReference>
+              <ExternalReference id="37315">
+                <Source>Genatlas</Source>
+                <Reference>PIK3CA</Reference>
+              </ExternalReference>
+              <ExternalReference id="24873">
+                <Source>HGNC</Source>
+                <Reference>8975</Reference>
+              </ExternalReference>
+              <ExternalReference id="82736">
+                <Source>IUPHAR</Source>
+                <Reference>2153</Reference>
+              </ExternalReference>
+              <ExternalReference id="24872">
+                <Source>OMIM</Source>
+                <Reference>171834</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25241">
+                <GeneLocus>3q26.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10802">
+      <OrphaCode>60033</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=60033</ExpertLink>
+      <Name lang="en">Idiopathic bronchiectasis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23781395[PMID]_25797027[PMID]</SourceOfValidation>
+          <Gene id="15441">
+            <Name lang="en">CF transmembrane conductance regulator</Name>
+            <Symbol>CFTR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABC35</Synonym>
+              <Synonym lang="en">ATP-binding cassette sub-family C, member 7</Synonym>
+              <Synonym lang="en">CFTR/MRP</Synonym>
+              <Synonym lang="en">MRP7</Synonym>
+              <Synonym lang="en">TNR-CFTR</Synonym>
+              <Synonym lang="en">dJ760C5.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56733">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000001626</Reference>
+              </ExternalReference>
+              <ExternalReference id="26534">
+                <Source>Genatlas</Source>
+                <Reference>CFTR</Reference>
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+              <ExternalReference id="26532">
+                <Source>HGNC</Source>
+                <Reference>1884</Reference>
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+              <ExternalReference id="82808">
+                <Source>IUPHAR</Source>
+                <Reference>707</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602421</Reference>
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+              <ExternalReference id="56734">
+                <Source>Reactome</Source>
+                <Reference>P13569</Reference>
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+              <ExternalReference id="32410">
+                <Source>SwissProt</Source>
+                <Reference>P13569</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7q31.2</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19462466[PMID]</SourceOfValidation>
+          <Gene id="15256">
+            <Name lang="en">sodium channel epithelial 1 subunit alpha</Name>
+            <Symbol>SCNN1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ENaCalpha</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="37338">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1A</Reference>
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+              <ExternalReference id="25646">
+                <Source>HGNC</Source>
+                <Reference>10599</Reference>
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+              <ExternalReference id="87961">
+                <Source>IUPHAR</Source>
+                <Reference>738</Reference>
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+              <ExternalReference id="25645">
+                <Source>OMIM</Source>
+                <Reference>600228</Reference>
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+              <ExternalReference id="82774">
+                <Source>Reactome</Source>
+                <Reference>P37088</Reference>
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+              <ExternalReference id="33814">
+                <Source>SwissProt</Source>
+                <Reference>P37088</Reference>
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+              <ExternalReference id="60246">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111319</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21658649[PMID]_18507830[PMID]</SourceOfValidation>
+          <Gene id="15257">
+            <Name lang="en">sodium channel epithelial 1 subunit beta</Name>
+            <Symbol>SCNN1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ENaCbeta</Synonym>
+              <Synonym lang="en">Liddle syndrome</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57837">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168447</Reference>
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+              <ExternalReference id="25652">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1B</Reference>
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+              <ExternalReference id="25650">
+                <Source>HGNC</Source>
+                <Reference>10600</Reference>
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+              <ExternalReference id="87962">
+                <Source>IUPHAR</Source>
+                <Reference>739</Reference>
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+              <ExternalReference id="25649">
+                <Source>OMIM</Source>
+                <Reference>600760</Reference>
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+              <ExternalReference id="82775">
+                <Source>Reactome</Source>
+                <Reference>P51168</Reference>
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+              <ExternalReference id="33815">
+                <Source>SwissProt</Source>
+                <Reference>P51168</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21658649[PMID]_18507830[PMID]</SourceOfValidation>
+          <Gene id="15258">
+            <Name lang="en">sodium channel epithelial 1 subunit gamma</Name>
+            <Symbol>SCNN1G</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">SCNEG</Synonym>
+              <Synonym lang="en">amiloride-sensitive sodium channel subunit gamma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166828</Reference>
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+              <ExternalReference id="36263">
+                <Source>Genatlas</Source>
+                <Reference>SCNN1G</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10602</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>741</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600761</Reference>
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+              <ExternalReference id="82776">
+                <Source>Reactome</Source>
+                <Reference>P51170</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51170</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="10788">
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+      <Name lang="en">Neonatal ichthyosis-sclerosing cholangitis syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>15521008[PMID]</SourceOfValidation>
+          <Gene id="15462">
+            <Name lang="en">claudin 1</Name>
+            <Symbol>CLDN1</Symbol>
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+              <Synonym lang="en">SEMP1</Synonym>
+              <Synonym lang="en">senescence-associated epithelial membrane protein 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59152">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163347</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2032</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59153">
+                <Source>Reactome</Source>
+                <Reference>O95832</Reference>
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+              <ExternalReference id="32431">
+                <Source>SwissProt</Source>
+                <Reference>O95832</Reference>
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+      <Name lang="en">McLeod neuroacanthocytosis syndrome</Name>
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+          <Gene id="15734">
+            <Name lang="en">X-linked Kx blood group antigen, Kell and VPS13A binding protein</Name>
+            <Symbol>XK</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">Kx antigen</Synonym>
+              <Synonym lang="en">McLeod syndrome</Synonym>
+              <Synonym lang="en">X1k</Synonym>
+              <Synonym lang="en">XKR1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000047597</Reference>
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+                <Reference>314850</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51811</Reference>
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+      <Name lang="en">Enlarged parietal foramina</Name>
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+            <Name lang="en">ALX homeobox 4</Name>
+            <Symbol>ALX4</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000052850</Reference>
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+                <Reference>ALX4</Reference>
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+                <Reference>450</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H161</Reference>
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+              <Synonym lang="en">craniosynostosis, type 2</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120149</Reference>
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+      <Name lang="en">Pulmonary alveolar microlithiasis</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>ENSG00000157765</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Primary hypomagnesemia-refractory seizures-intellectual disability syndrome</Name>
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+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-1</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>833</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163399</Reference>
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+              <ExternalReference id="82045">
+                <Source>Genatlas</Source>
+                <Reference>ATP1A1</Reference>
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+              <ExternalReference id="82043">
+                <Source>HGNC</Source>
+                <Reference>799</Reference>
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+      <Name lang="en">Loeys-Dietz syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="31552">
+            <Name lang="en">importin 8</Name>
+            <Symbol>IPO8</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O15397</Reference>
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+              <ExternalReference id="207753">
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+                <Reference>9853</Reference>
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+          <SourceOfValidation>15731757[PMID]_16928994[PMID]</SourceOfValidation>
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+            <Name lang="en">transforming growth factor beta receptor 1</Name>
+            <Symbol>TGFBR1</Symbol>
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+              <Synonym lang="en">ALK-5</Synonym>
+              <Synonym lang="en">ALK5</Synonym>
+              <Synonym lang="en">TBR-i</Synonym>
+              <Synonym lang="en">TBRI</Synonym>
+              <Synonym lang="en">activin A receptor type II-like kinase, 53kDa</Synonym>
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+            <GeneType id="25993">
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+                <Reference>ENSG00000106799</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>1788</Reference>
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+                <Reference>190181</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15731757[PMID]_16928994[PMID]</SourceOfValidation>
+          <Gene id="15611">
+            <Name lang="en">transforming growth factor beta receptor 2</Name>
+            <Symbol>TGFBR2</Symbol>
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+              <Synonym lang="en">TBR-ii</Synonym>
+              <Synonym lang="en">TBRII</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000163513</Reference>
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+                <Reference>11773</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1795</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Syndromic congenital sodium diarrhea</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">serine peptidase inhibitor, Kunitz type 2</Name>
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+              <Synonym lang="en">Kop</Synonym>
+              <Synonym lang="en">placental bikunin</Synonym>
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+                <Reference>ENSG00000167642</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>O43291</Reference>
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+                <Reference>ENSG00000100234</Reference>
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+                <Reference>ENSG00000092054</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10759">
+      <OrphaCode>55596</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=55596</ExpertLink>
+      <Name lang="en">HNRNPDL-related limb-girdle muscular dystrophy D3</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24647604[PMID]</SourceOfValidation>
+          <Gene id="22992">
+            <Name lang="en">heterogeneous nuclear ribonucleoprotein D like</Name>
+            <Symbol>HNRNPDL</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JKTBP</Synonym>
+              <Synonym lang="en">laAUF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143043">
+                <Source>Reactome</Source>
+                <Reference>O14979</Reference>
+              </ExternalReference>
+              <ExternalReference id="94457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152795</Reference>
+              </ExternalReference>
+              <ExternalReference id="94455">
+                <Source>Genatlas</Source>
+                <Reference>HNRPDL</Reference>
+              </ExternalReference>
+              <ExternalReference id="94453">
+                <Source>HGNC</Source>
+                <Reference>5037</Reference>
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+              <ExternalReference id="94454">
+                <Source>OMIM</Source>
+                <Reference>607137</Reference>
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+              <ExternalReference id="94456">
+                <Source>SwissProt</Source>
+                <Reference>O14979</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="37803">
+                <GeneLocus>4q21.22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10756">
+      <OrphaCode>54595</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=54595</ExpertLink>
+      <Name lang="en">Craniopharyngioma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24413733[PMID]</SourceOfValidation>
+          <Gene id="15376">
+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>BRAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRAF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56979">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157764</Reference>
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+              <ExternalReference id="26223">
+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
+              </ExternalReference>
+              <ExternalReference id="26221">
+                <Source>HGNC</Source>
+                <Reference>1097</Reference>
+              </ExternalReference>
+              <ExternalReference id="82791">
+                <Source>IUPHAR</Source>
+                <Reference>1943</Reference>
+              </ExternalReference>
+              <ExternalReference id="26220">
+                <Source>OMIM</Source>
+                <Reference>164757</Reference>
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+              <ExternalReference id="56980">
+                <Source>Reactome</Source>
+                <Reference>P15056</Reference>
+              </ExternalReference>
+              <ExternalReference id="33933">
+                <Source>SwissProt</Source>
+                <Reference>P15056</Reference>
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+            <LocusList count="1">
+              <Locus id="7299">
+                <GeneLocus>7q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24413733[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
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+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
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+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
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+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24375">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10766">
+      <OrphaCode>56304</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=56304</ExpertLink>
+      <Name lang="en">Atelosteogenesis type II</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301493[PMID]</SourceOfValidation>
+          <Gene id="15315">
+            <Name lang="en">solute carrier family 26 member 2</Name>
+            <Symbol>SLC26A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DTDST</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56985">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155850</Reference>
+              </ExternalReference>
+              <ExternalReference id="25931">
+                <Source>Genatlas</Source>
+                <Reference>SLC26A2</Reference>
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+              <ExternalReference id="25933">
+                <Source>HGNC</Source>
+                <Reference>10994</Reference>
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+              <ExternalReference id="25932">
+                <Source>OMIM</Source>
+                <Reference>606718</Reference>
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+              <ExternalReference id="56986">
+                <Source>Reactome</Source>
+                <Reference>P50443</Reference>
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+              <ExternalReference id="33873">
+                <Source>SwissProt</Source>
+                <Reference>P50443</Reference>
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+              <ExternalReference id="193540">
+                <Source>IUPHAR</Source>
+                <Reference>1098</Reference>
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+                <GeneLocus>5q32</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="10767">
+      <OrphaCode>56305</OrphaCode>
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+      <Name lang="en">Atelosteogenesis type III</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16059">
+            <Name lang="en">filamin B</Name>
+            <Symbol>FLNB</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ABP-278</Synonym>
+              <Synonym lang="en">FH1</Synonym>
+              <Synonym lang="en">TABP</Synonym>
+              <Synonym lang="en">TAP</Synonym>
+              <Synonym lang="en">actin binding protein 278</Synonym>
+              <Synonym lang="en">beta filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58037">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136068</Reference>
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+              <ExternalReference id="29509">
+                <Source>Genatlas</Source>
+                <Reference>FLNB</Reference>
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+              <ExternalReference id="29511">
+                <Source>HGNC</Source>
+                <Reference>3755</Reference>
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+              <ExternalReference id="29510">
+                <Source>OMIM</Source>
+                <Reference>603381</Reference>
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+              <ExternalReference id="58038">
+                <Source>Reactome</Source>
+                <Reference>O75369</Reference>
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+              <ExternalReference id="33074">
+                <Source>SwissProt</Source>
+                <Reference>O75369</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28366">
+      <OrphaCode>563612</OrphaCode>
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+      <Name lang="en">Isolated exencephaly</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+            <Name lang="en">VANGL planar cell polarity protein 2</Name>
+            <Symbol>VANGL2</Symbol>
+            <SynonymList count="14">
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+              <Synonym lang="en">KIAA1215</Synonym>
+              <Synonym lang="en">LPP1</Synonym>
+              <Synonym lang="en">LTAP</Synonym>
+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58375">
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+                <Reference>ENSG00000162738</Reference>
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+              <ExternalReference id="54486">
+                <Source>Genatlas</Source>
+                <Reference>VANGL2</Reference>
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+              <ExternalReference id="54485">
+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+              <ExternalReference id="84577">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+              <ExternalReference id="54487">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULK5</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31516628[PMID]</SourceOfValidation>
+          <Gene id="16475">
+            <Name lang="en">methylenetetrahydrofolate reductase</Name>
+            <Symbol>MTHFR</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="31473">
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+              <ExternalReference id="57313">
+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="33540">
+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+              <ExternalReference id="57312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7436</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28365">
+      <OrphaCode>563609</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=563609</ExpertLink>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+              <Synonym lang="en">Loop-tail-associated protein</Synonym>
+              <Synonym lang="en">MGC119403</Synonym>
+              <Synonym lang="en">MGC119404</Synonym>
+              <Synonym lang="en">STB1</Synonym>
+              <Synonym lang="en">STBM</Synonym>
+              <Synonym lang="en">STBM1</Synonym>
+              <Synonym lang="en">Strabismus</Synonym>
+              <Synonym lang="en">Vang, van gogh-like 2</Synonym>
+              <Synonym lang="en">loop-tail-associated protein</Synonym>
+              <Synonym lang="en">strabismus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000162738</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15511</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600533</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULK5</Reference>
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+                <Reference>Q9ULK5</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31424828[PMID]</SourceOfValidation>
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+                <Source>Reactome</Source>
+                <Reference>P42898</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P42898</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177000</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=55880</ExpertLink>
+      <Name lang="en">Chondrosarcoma</Name>
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+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16004">
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+            <Symbol>EXT1</Symbol>
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+              <Synonym lang="en">N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase</Synonym>
+              <Synonym lang="en">ttv</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>3512</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608177</Reference>
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+              <ExternalReference id="82904">
+                <Source>Reactome</Source>
+                <Reference>Q16394</Reference>
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+                <Reference>Q16394</Reference>
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+              <ExternalReference id="57361">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182197</Reference>
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+              <ExternalReference id="29227">
+                <Source>Genatlas</Source>
+                <Reference>EXT1</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10760">
+      <OrphaCode>55654</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=55654</ExpertLink>
+      <Name lang="en">Hypotrichosis simplex</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30401459[PMID]</SourceOfValidation>
+          <Gene id="23345">
+            <Name lang="en">lanosterol synthase</Name>
+            <Symbol>LSS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">OSC</Synonym>
+              <Synonym lang="en">Oxidosqualene-lanosterol cyclase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96188">
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+                <Reference>ENSG00000160285</Reference>
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+              <ExternalReference id="96185">
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+                <Reference>LSS</Reference>
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+              <ExternalReference id="96183">
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+                <Reference>6708</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2434</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600909</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48449</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18445047[PMID]</SourceOfValidation>
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+            <Name lang="en">lipase H</Name>
+            <Symbol>LIPH</Symbol>
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+              <Synonym lang="en">LPDLR</Synonym>
+              <Synonym lang="en">PLA1B</Synonym>
+              <Synonym lang="en">mPA-PLA1</Synonym>
+              <Synonym lang="en">mPA-PLA1alpha</Synonym>
+              <Synonym lang="en">phospholipase A(1)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58820">
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+                <Reference>ENSG00000163898</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>18483</Reference>
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+              <ExternalReference id="98075">
+                <Source>Reactome</Source>
+                <Reference>Q8WWY8</Reference>
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+                <Reference>Q8WWY8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20393562[PMID]</SourceOfValidation>
+          <Gene id="19139">
+            <Name lang="en">APC down-regulated 1</Name>
+            <Symbol>APCDD1</Symbol>
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+              <Synonym lang="en">B7323</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59146">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154856</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>APCDD1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15718</Reference>
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+                <Reference>607479</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>21412954[PMID]</SourceOfValidation>
+          <Gene id="20668">
+            <Name lang="en">ribosomal protein L21</Name>
+            <Symbol>RPL21</Symbol>
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+              <Synonym lang="en">DKFZp686C06101</Synonym>
+              <Synonym lang="en">FLJ27458</Synonym>
+              <Synonym lang="en">L21</Synonym>
+              <Synonym lang="en">MGC104274</Synonym>
+              <Synonym lang="en">MGC104275</Synonym>
+              <Synonym lang="en">MGC71252</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122026</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RPL21</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000182004</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+      <Name lang="en">Infantile inflammatory bowel disease with neurological involvement</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79233</ExpertLink>
+      <Name lang="en">Hypoxanthine guanine phosphoribosyltransferase partial deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10657589[PMID]_26073243[PMID]</SourceOfValidation>
+          <Gene id="16214">
+            <Name lang="en">hypoxanthine phosphoribosyltransferase 1</Name>
+            <Symbol>HPRT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HGPRT</Synonym>
+              <Synonym lang="en">Lesch-Nyhan syndrome</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56956">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165704</Reference>
+              </ExternalReference>
+              <ExternalReference id="30257">
+                <Source>Genatlas</Source>
+                <Reference>HPRT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30259">
+                <Source>HGNC</Source>
+                <Reference>5157</Reference>
+              </ExternalReference>
+              <ExternalReference id="30258">
+                <Source>OMIM</Source>
+                <Reference>308000</Reference>
+              </ExternalReference>
+              <ExternalReference id="56957">
+                <Source>Reactome</Source>
+                <Reference>P00492</Reference>
+              </ExternalReference>
+              <ExternalReference id="33278">
+                <Source>SwissProt</Source>
+                <Reference>P00492</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25615">
+                <GeneLocus>Xq26.2-q26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11256">
+      <OrphaCode>79230</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79230</ExpertLink>
+      <Name lang="en">Hemochromatosis type 2</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301349[PMID]</SourceOfValidation>
+          <Gene id="16183">
+            <Name lang="en">hepcidin antimicrobial peptide</Name>
+            <Symbol>HAMP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HEPC</Synonym>
+              <Synonym lang="en">HFE2B</Synonym>
+              <Synonym lang="en">LEAP-1</Synonym>
+              <Synonym lang="en">LEAP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59313">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105697</Reference>
+              </ExternalReference>
+              <ExternalReference id="35802">
+                <Source>Genatlas</Source>
+                <Reference>HAMP</Reference>
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+              <ExternalReference id="34007">
+                <Source>HGNC</Source>
+                <Reference>15598</Reference>
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+              <ExternalReference id="30108">
+                <Source>OMIM</Source>
+                <Reference>606464</Reference>
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+              <ExternalReference id="33202">
+                <Source>SwissProt</Source>
+                <Reference>P81172</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301349[PMID]</SourceOfValidation>
+          <Gene id="16447">
+            <Name lang="en">hemojuvelin BMP co-receptor</Name>
+            <Symbol>HJV</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">HFE2A</Synonym>
+              <Synonym lang="en">HJV</Synonym>
+              <Synonym lang="en">JH</Synonym>
+              <Synonym lang="en">RGMC</Synonym>
+              <Synonym lang="en">haemojuvelin</Synonym>
+              <Synonym lang="en">hemojuvelin</Synonym>
+              <Synonym lang="en">repulsive guidance molecule c</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59311">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168509</Reference>
+              </ExternalReference>
+              <ExternalReference id="34008">
+                <Source>Genatlas</Source>
+                <Reference>HFE2</Reference>
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+              <ExternalReference id="34009">
+                <Source>HGNC</Source>
+                <Reference>4887</Reference>
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+              <ExternalReference id="31339">
+                <Source>OMIM</Source>
+                <Reference>608374</Reference>
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+              <ExternalReference id="59312">
+                <Source>Reactome</Source>
+                <Reference>Q6ZVN8</Reference>
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+              <ExternalReference id="33509">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZVN8</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11263">
+      <OrphaCode>79237</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79237</ExpertLink>
+      <Name lang="en">Galactokinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>10521295[PMID]</SourceOfValidation>
+          <Gene id="16094">
+            <Name lang="en">galactokinase 1</Name>
+            <Symbol>GALK1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57175">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108479</Reference>
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+              <ExternalReference id="29675">
+                <Source>Genatlas</Source>
+                <Reference>GALK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4118</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604313</Reference>
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+              <ExternalReference id="57176">
+                <Source>Reactome</Source>
+                <Reference>P51570</Reference>
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+              <ExternalReference id="33109">
+                <Source>SwissProt</Source>
+                <Reference>P51570</Reference>
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+                <GeneLocus>17q25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="28477">
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+      <Name lang="en">CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31201888[PMID]</SourceOfValidation>
+          <Gene id="18349">
+            <Name lang="en">CCAAT enhancer binding protein epsilon</Name>
+            <Symbol>CEBPE</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRP1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092067</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1836</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600749</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15744</Reference>
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+      <Name lang="en">Crigler-Najjar syndrome type 1</Name>
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+            <Name lang="en">UDP glucuronosyltransferase family 1 member A1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P22309</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22309</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Combined oxidative phosphorylation defect type 39</Name>
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+            <Name lang="en">GTP dependent ribosome recycling factor mitochondrial 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Primary triglyceride deposit cardiomyovasculopathy</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">2-methylbutyryl-CoA dehydrogenase deficiency</Name>
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+                <Reference>ENSG00000196177</Reference>
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+              <ExternalReference id="24741">
+                <Source>Genatlas</Source>
+                <Reference>ACADSB</Reference>
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+              <ExternalReference id="24739">
+                <Source>HGNC</Source>
+                <Reference>91</Reference>
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+              <ExternalReference id="24738">
+                <Source>OMIM</Source>
+                <Reference>600301</Reference>
+              </ExternalReference>
+              <ExternalReference id="59308">
+                <Source>Reactome</Source>
+                <Reference>P45954</Reference>
+              </ExternalReference>
+              <ExternalReference id="32343">
+                <Source>SwissProt</Source>
+                <Reference>P45954</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14407">
+                <GeneLocus>10q26.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11181">
+      <OrphaCode>79155</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79155</ExpertLink>
+      <Name lang="en">Hydroxykynureninuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17334708[PMID]</SourceOfValidation>
+          <Gene id="17733">
+            <Name lang="en">kynureninase</Name>
+            <Symbol>KYNU</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">L-kynurenine hydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59305">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115919</Reference>
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+              <ExternalReference id="39292">
+                <Source>Genatlas</Source>
+                <Reference>KYNU</Reference>
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+              <ExternalReference id="39293">
+                <Source>HGNC</Source>
+                <Reference>6469</Reference>
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+              <ExternalReference id="39294">
+                <Source>OMIM</Source>
+                <Reference>605197</Reference>
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+              <ExternalReference id="59306">
+                <Source>Reactome</Source>
+                <Reference>Q16719</Reference>
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+              <ExternalReference id="39295">
+                <Source>SwissProt</Source>
+                <Reference>Q16719</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="11180">
+      <OrphaCode>79154</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79154</ExpertLink>
+      <Name lang="en">2-aminoadipic 2-oxoadipic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23141293[PMID]</SourceOfValidation>
+          <Gene id="21730">
+            <Name lang="en">dehydrogenase E1 and transketolase domain containing 1</Name>
+            <Symbol>DHTKD1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2Q</Synonym>
+              <Synonym lang="en">DKFZP762M115</Synonym>
+              <Synonym lang="en">KIAA1630</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181192</Reference>
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+              <ExternalReference id="76086">
+                <Source>Genatlas</Source>
+                <Reference>DHTKD1</Reference>
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+              <ExternalReference id="76084">
+                <Source>HGNC</Source>
+                <Reference>23537</Reference>
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+              <ExternalReference id="76085">
+                <Source>OMIM</Source>
+                <Reference>614984</Reference>
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+              <ExternalReference id="98101">
+                <Source>Reactome</Source>
+                <Reference>Q96HY7</Reference>
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+              <ExternalReference id="76087">
+                <Source>SwissProt</Source>
+                <Reference>Q96HY7</Reference>
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+                <GeneLocus>10p14</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11178">
+      <OrphaCode>79152</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79152</ExpertLink>
+      <Name lang="en">Disseminated superficial actinic porokeratosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22983302[PMID]_26202976[PMID]</SourceOfValidation>
+          <Gene id="16491">
+            <Name lang="en">mevalonate kinase</Name>
+            <Symbol>MVK</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LH receptor mRNA-binding protein</Synonym>
+              <Synonym lang="en">LRBP</Synonym>
+              <Synonym lang="en">MK</Synonym>
+              <Synonym lang="en">mevalonic aciduria</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110921</Reference>
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+              <ExternalReference id="31547">
+                <Source>Genatlas</Source>
+                <Reference>MVK</Reference>
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+              <ExternalReference id="31545">
+                <Source>HGNC</Source>
+                <Reference>7530</Reference>
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+              <ExternalReference id="83005">
+                <Source>IUPHAR</Source>
+                <Reference>640</Reference>
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+                <Source>OMIM</Source>
+                <Reference>251170</Reference>
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+              <ExternalReference id="57236">
+                <Source>Reactome</Source>
+                <Reference>Q03426</Reference>
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+              <ExternalReference id="33556">
+                <Source>SwissProt</Source>
+                <Reference>Q03426</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25180256[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 17 member 9</Name>
+            <Symbol>SLC17A9</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYT1</Reference>
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+              <ExternalReference id="94867">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101194</Reference>
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+                <Source>IUPHAR</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26202976[PMID]</SourceOfValidation>
+          <Gene id="23494">
+            <Name lang="en">mevalonate diphosphate decarboxylase</Name>
+            <Symbol>MVD</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">diphosphomevalonate decarboxylase</Synonym>
+              <Synonym lang="en">mevalonate pyrophosphate decarboxylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167508</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>642</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603236</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P53602</Reference>
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+                <Source>SwissProt</Source>
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+            <Symbol>FDPS</Symbol>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Acrokeratosis verruciformis of Hopf</Name>
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+            <Name lang="en">ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2</Name>
+            <Symbol>ATP2A2</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">calcium pump 2</Synonym>
+              <Synonym lang="en">sarcoplasmic/endoplasmic reticulum calcium ATPase 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174437</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Familial progressive hyperpigmentation</Name>
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+            <Name lang="en">KIT ligand</Name>
+            <Symbol>KITLG</Symbol>
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+              <Synonym lang="en">FPH2</Synonym>
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+              <Synonym lang="en">SF</Synonym>
+              <Synonym lang="en">SLF</Synonym>
+              <Synonym lang="en">familial progressive hyperpigmentation 2</Synonym>
+              <Synonym lang="en">mast cell growth factor</Synonym>
+              <Synonym lang="en">steel factor</Synonym>
+              <Synonym lang="en">stem cell factor</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049130</Reference>
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+                <Reference>6343</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Dowling-Degos disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <SynonymList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000205155</Reference>
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+                <Reference>30100</Reference>
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+                <Reference>607632</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NZ42</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59300">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186081</Reference>
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+              <ExternalReference id="30763">
+                <Source>Genatlas</Source>
+                <Reference>KRT5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6442</Reference>
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+                <Source>OMIM</Source>
+                <Reference>148040</Reference>
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+              <ExternalReference id="59301">
+                <Source>Reactome</Source>
+                <Reference>P13647</Reference>
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+              <ExternalReference id="33387">
+                <Source>SwissProt</Source>
+                <Reference>P13647</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23684010[PMID]</SourceOfValidation>
+          <Gene id="22196">
+            <Name lang="en">protein O-fucosyltransferase 1</Name>
+            <Symbol>POFUT1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FUT12</Synonym>
+              <Synonym lang="en">GDP-fucose protein O-fucosyltransferase 1</Synonym>
+              <Synonym lang="en">KIAA0180</Synonym>
+              <Synonym lang="en">O-FUT</Synonym>
+              <Synonym lang="en">O-Fuc-T</Synonym>
+              <Synonym lang="en">Peptide-O-fucosyltransferase</Synonym>
+              <Synonym lang="en">peptide-O-fucosyltransferase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="80087">
+                <Source>HGNC</Source>
+                <Reference>14988</Reference>
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+              <ExternalReference id="80088">
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+                <Reference>607491</Reference>
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+              <ExternalReference id="83890">
+                <Source>Reactome</Source>
+                <Reference>Q9H488</Reference>
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+              <ExternalReference id="80090">
+                <Source>SwissProt</Source>
+                <Reference>Q9H488</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101346</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24387993[PMID]</SourceOfValidation>
+          <Gene id="22647">
+            <Name lang="en">protein O-glucosyltransferase 1</Name>
+            <Symbol>POGLUT1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">9630046K23Rik</Synonym>
+              <Synonym lang="en">KDELC family like 1</Synonym>
+              <Synonym lang="en">KDELCL1</Synonym>
+              <Synonym lang="en">MDS010</Synonym>
+              <Synonym lang="en">MDSRP</Synonym>
+              <Synonym lang="en">MGC32995</Synonym>
+              <Synonym lang="en">Rumi</Synonym>
+              <Synonym lang="en">hCLP46</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="87620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163389</Reference>
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+              <ExternalReference id="85475">
+                <Source>Genatlas</Source>
+                <Reference>POGLUT1</Reference>
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+              <ExternalReference id="85473">
+                <Source>HGNC</Source>
+                <Reference>22954</Reference>
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+              <ExternalReference id="85474">
+                <Source>OMIM</Source>
+                <Reference>615618</Reference>
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+              <ExternalReference id="87619">
+                <Source>Reactome</Source>
+                <Reference>Q8NBL1</Reference>
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+              <ExternalReference id="85476">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBL1</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="11185">
+      <OrphaCode>79159</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79159</ExpertLink>
+      <Name lang="en">Isobutyryl-CoA dehydrogenase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24635911[PMID]</SourceOfValidation>
+          <Gene id="16425">
+            <Name lang="en">acyl-CoA dehydrogenase family member 8</Name>
+            <Symbol>ACAD8</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">isobutyryl-CoA dehydrogenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59309">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151498</Reference>
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+              <ExternalReference id="37291">
+                <Source>Genatlas</Source>
+                <Reference>ACAD8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>87</Reference>
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+                <Reference>604773</Reference>
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+              <ExternalReference id="59310">
+                <Source>Reactome</Source>
+                <Reference>Q9UKU7</Reference>
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+              <ExternalReference id="33488">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKU7</Reference>
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+      <Name lang="en">Developmental malformations-deafness-dystonia syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17409">
+            <Name lang="en">actin beta</Name>
+            <Symbol>ACTB</Symbol>
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+              <Synonym lang="en">ß-actin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075624</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>132</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59290">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+    <Disorder id="28493">
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+      <Name lang="en">Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>THRA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta</Name>
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+              <Synonym lang="en">avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2</Synonym>
+              <Synonym lang="en">generalized resistance to thyroid hormone</Synonym>
+              <Synonym lang="en">oncogene ERBA2</Synonym>
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+                <Source>Ensembl</Source>
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+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9033">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11150">
+      <OrphaCode>79113</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79113</ExpertLink>
+      <Name lang="en">Mandibulofacial dysostosis-microcephaly syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22305528[PMID]_24999515[PMID]</SourceOfValidation>
+          <Gene id="20817">
+            <Name lang="en">elongation factor Tu GTP binding domain containing 2</Name>
+            <Symbol>EFTUD2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">116 kDa U5 small nuclear ribonucleoprotein component</Synonym>
+              <Synonym lang="en">SNRNP116</Synonym>
+              <Synonym lang="en">Snrp116</Synonym>
+              <Synonym lang="en">Snu114</Synonym>
+              <Synonym lang="en">U5 snRNP specific protein, 116 kD</Synonym>
+              <Synonym lang="en">U5-116KD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83270">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108883</Reference>
+              </ExternalReference>
+              <ExternalReference id="61059">
+                <Source>Genatlas</Source>
+                <Reference>EFTUD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="61057">
+                <Source>HGNC</Source>
+                <Reference>30858</Reference>
+              </ExternalReference>
+              <ExternalReference id="61058">
+                <Source>OMIM</Source>
+                <Reference>603892</Reference>
+              </ExternalReference>
+              <ExternalReference id="83269">
+                <Source>Reactome</Source>
+                <Reference>Q15029</Reference>
+              </ExternalReference>
+              <ExternalReference id="61060">
+                <Source>SwissProt</Source>
+                <Reference>Q15029</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11839">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11144">
+      <OrphaCode>79102</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79102</ExpertLink>
+      <Name lang="en">Thyrotoxic periodic paralysis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15001631[PMID]</SourceOfValidation>
+          <Gene id="15394">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 S</Name>
+            <Symbol>CACNA1S</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Cav1.1</Synonym>
+              <Synonym lang="en">hypoPP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56988">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081248</Reference>
+              </ExternalReference>
+              <ExternalReference id="26313">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1S</Reference>
+              </ExternalReference>
+              <ExternalReference id="26311">
+                <Source>HGNC</Source>
+                <Reference>1397</Reference>
+              </ExternalReference>
+              <ExternalReference id="82802">
+                <Source>IUPHAR</Source>
+                <Reference>528</Reference>
+              </ExternalReference>
+              <ExternalReference id="26310">
+                <Source>OMIM</Source>
+                <Reference>114208</Reference>
+              </ExternalReference>
+              <ExternalReference id="56989">
+                <Source>Reactome</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
+              <ExternalReference id="32362">
+                <Source>SwissProt</Source>
+                <Reference>Q13698</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17970773[PMID]</SourceOfValidation>
+          <Gene id="18417">
+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit alpha3</Name>
+            <Symbol>GABRA3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GABA(A) receptor, alpha 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83139">
+                <Source>IUPHAR</Source>
+                <Reference>406</Reference>
+              </ExternalReference>
+              <ExternalReference id="41976">
+                <Source>OMIM</Source>
+                <Reference>305660</Reference>
+              </ExternalReference>
+              <ExternalReference id="59286">
+                <Source>Reactome</Source>
+                <Reference>P34903</Reference>
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+              <ExternalReference id="41977">
+                <Source>SwissProt</Source>
+                <Reference>P34903</Reference>
+              </ExternalReference>
+              <ExternalReference id="59285">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011677</Reference>
+              </ExternalReference>
+              <ExternalReference id="41974">
+                <Source>Genatlas</Source>
+                <Reference>GABRA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="41975">
+                <Source>HGNC</Source>
+                <Reference>4077</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="10701">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20074522[PMID]</SourceOfValidation>
+          <Gene id="21414">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 18</Name>
+            <Symbol>KCNJ18</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIR2.6</Synonym>
+              <Synonym lang="en">TTPP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="91597">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000260458</Reference>
+              </ExternalReference>
+              <ExternalReference id="70883">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ18</Reference>
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+              <ExternalReference id="70881">
+                <Source>HGNC</Source>
+                <Reference>39080</Reference>
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+              <ExternalReference id="70882">
+                <Source>OMIM</Source>
+                <Reference>613236</Reference>
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+              <ExternalReference id="70884">
+                <Source>SwissProt</Source>
+                <Reference>B7U540</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="11147">
+      <OrphaCode>79105</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79105</ExpertLink>
+      <Name lang="en">Myxofibrosarcoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <Gene id="17369">
+            <Name lang="en">FUS RNA binding protein</Name>
+            <Symbol>FUS</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">HNRNPP2</Synonym>
+              <Synonym lang="en">TLS</Synonym>
+              <Synonym lang="en">heterogeneous nuclear ribonucleoprotein P2</Synonym>
+              <Synonym lang="en">hnRNP-P2</Synonym>
+              <Synonym lang="en">translocated in liposarcoma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56796">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089280</Reference>
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+              <ExternalReference id="37075">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4010</Reference>
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+                <Source>OMIM</Source>
+                <Reference>137070</Reference>
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+              <ExternalReference id="56797">
+                <Source>Reactome</Source>
+                <Reference>P35637</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35637</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18652">
+            <Name lang="en">cAMP responsive element binding protein 3 like 2</Name>
+            <Symbol>CREB3L2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BBF2H7</Synonym>
+              <Synonym lang="en">TCAG_1951439</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143862">
+                <Source>Reactome</Source>
+                <Reference>Q70SY1</Reference>
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+              <ExternalReference id="59288">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182158</Reference>
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+              <ExternalReference id="43065">
+                <Source>Genatlas</Source>
+                <Reference>CREB3L2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23720</Reference>
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+              <ExternalReference id="43067">
+                <Source>OMIM</Source>
+                <Reference>608834</Reference>
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+              <ExternalReference id="43068">
+                <Source>SwissProt</Source>
+                <Reference>Q70SY1</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18653">
+            <Name lang="en">cAMP responsive element binding protein 3 like 1</Name>
+            <Symbol>CREB3L1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BBF-2 homolog (drosophila)</Synonym>
+              <Synonym lang="en">OASIS</Synonym>
+              <Synonym lang="en">old astrocyte specifically induced substance</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Reactome</Source>
+                <Reference>Q96BA8</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157613</Reference>
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+              <ExternalReference id="43070">
+                <Source>Genatlas</Source>
+                <Reference>CREB3L1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18856</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96BA8</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11143">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79101</ExpertLink>
+      <Name lang="en">Hyperprolinemia type 2</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">aldehyde dehydrogenase 4 family member A1</Name>
+            <Symbol>ALDH4A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Delta-1-pyrroline-5-carboxylate dehydrogenase</Synonym>
+              <Synonym lang="en">L-glutamate gamma-semialdehyde dehydrogenase</Synonym>
+              <Synonym lang="en">P5CDh</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59282">
+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>406</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606811</Reference>
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+              <ExternalReference id="59283">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P30038</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=566192</ExpertLink>
+      <Name lang="en">Congenital autosomal recessive small-platelet thrombocytopenia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25876182[PMID]</SourceOfValidation>
+          <Gene id="25600">
+            <Name lang="en">FYN binding protein 1</Name>
+            <Symbol>FYB1</Symbol>
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+              <Synonym lang="en">ADAP</Synonym>
+              <Synonym lang="en">FYB-120/130</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082074</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15117</Reference>
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+              <ExternalReference id="146237">
+                <Source>OMIM</Source>
+                <Reference>602731</Reference>
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+              <ExternalReference id="146238">
+                <Source>Reactome</Source>
+                <Reference>O15117</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11142">
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+      <Name lang="en">Atrophoderma vermiculata</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="23577">
+            <Name lang="en">LDL receptor related protein 1</Name>
+            <Symbol>LRP1</Symbol>
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+              <Synonym lang="en">APOER</Synonym>
+              <Synonym lang="en">CD91</Synonym>
+              <Synonym lang="en">LRP</Synonym>
+              <Synonym lang="en">LRP1A</Synonym>
+              <Synonym lang="en">transforming growth factor-&amp;#946; receptor type V</Synonym>
+              <Synonym lang="en">transforming growth factor-ß receptor type V</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98379">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LRP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6692</Reference>
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+                <Source>OMIM</Source>
+                <Reference>107770</Reference>
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+              <ExternalReference id="98378">
+                <Source>Reactome</Source>
+                <Reference>Q07954</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q07954</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11137">
+      <OrphaCode>79095</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79095</ExpertLink>
+      <Name lang="en">Congenital bile acid synthesis defect type 4</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18577977[PMID]</SourceOfValidation>
+          <Gene id="17373">
+            <Name lang="en">alpha-methylacyl-CoA racemase</Name>
+            <Symbol>AMACR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">P504S</Synonym>
+              <Synonym lang="en">RACE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59278">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000242110</Reference>
+              </ExternalReference>
+              <ExternalReference id="37100">
+                <Source>Genatlas</Source>
+                <Reference>AMACR</Reference>
+              </ExternalReference>
+              <ExternalReference id="37101">
+                <Source>HGNC</Source>
+                <Reference>451</Reference>
+              </ExternalReference>
+              <ExternalReference id="37102">
+                <Source>OMIM</Source>
+                <Reference>604489</Reference>
+              </ExternalReference>
+              <ExternalReference id="59279">
+                <Source>Reactome</Source>
+                <Reference>Q9UHK6</Reference>
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+              <ExternalReference id="37103">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHK6</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11136">
+      <OrphaCode>79094</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79094</ExpertLink>
+      <Name lang="en">Grange syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27939641[PMID]</SourceOfValidation>
+          <Gene id="25293">
+            <Name lang="en">YY1 associated protein 1</Name>
+            <Symbol>YY1AP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HCCA2</Synonym>
+              <Synonym lang="en">YAP</Synonym>
+              <Synonym lang="en">YY1AP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="141032">
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+                <Reference>Q9H869</Reference>
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+              <ExternalReference id="141029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163374</Reference>
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+              <ExternalReference id="141030">
+                <Source>OMIM</Source>
+                <Reference>607860</Reference>
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+              <ExternalReference id="141031">
+                <Source>Genatlas</Source>
+                <Reference>YY1AP1</Reference>
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+              <ExternalReference id="141028">
+                <Source>HGNC</Source>
+                <Reference>30935</Reference>
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+              <ExternalReference id="143011">
+                <Source>Reactome</Source>
+                <Reference>Q9H869</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28482">
+      <OrphaCode>566175</OrphaCode>
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+      <Name lang="en">Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30565236[PMID]</SourceOfValidation>
+          <Gene id="26839">
+            <Name lang="en">CD55 molecule (Cromer blood group)</Name>
+            <Symbol>CD55</Symbol>
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+              <Synonym lang="en">CR</Synonym>
+              <Synonym lang="en">CROM</Synonym>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="200697">
+                <Source>SwissProt</Source>
+                <Reference>P08174</Reference>
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+              <ExternalReference id="162712">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196352</Reference>
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+              <ExternalReference id="157135">
+                <Source>HGNC</Source>
+                <Reference>2665</Reference>
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+                <Reference>125240</Reference>
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+                <GeneLocus>1q32.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Pyridoxal phosphate-responsive seizures</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">pyridoxamine 5'-phosphate oxidase</Name>
+            <Symbol>PNPO</Symbol>
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+              <Synonym lang="en">PDXPO</Synonym>
+              <Synonym lang="en">pyridoxal 5'-phosphate synthase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108439</Reference>
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+                <Reference>PNPO</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9NVS9</Reference>
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+              <ExternalReference id="38282">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVS9</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11160">
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+      <Name lang="en">DEND syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ATP binding cassette subfamily C member 8</Name>
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+                <Reference>ENSG00000006071</Reference>
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+              <ExternalReference id="24690">
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+                <Reference>ENSG00000187486</Reference>
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+                <Reference>KCNJ11</Reference>
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+                <Reference>6257</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q14654</Reference>
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+            <Name lang="en">asparaginyl-tRNA synthetase 2, mitochondrial</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Generalized epilepsy-paroxysmal dyskinesia syndrome</Name>
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+              <Synonym lang="en">KCa1.1</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156113</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hepatic veno-occlusive disease-immunodeficiency syndrome</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135899</Reference>
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+                <Reference>Q9HB58</Reference>
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+      <Name lang="en">Chronic mast cell leukemia</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>KIT</Symbol>
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+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000157404</Reference>
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+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
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+                <Reference>1805</Reference>
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+                <Reference>164920</Reference>
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+                <Reference>P10721</Reference>
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+              <ExternalReference id="33373">
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+                <Reference>P10721</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=77293</ExpertLink>
+      <Name lang="en">Chronic visceral acid sphingomyelinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">sphingomyelin phosphodiesterase 1</Name>
+            <Symbol>SMPD1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">Niemann-Pick type A/B</Synonym>
+              <Synonym lang="en">acid sphingomyelinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>607608</Reference>
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+                <Reference>P17405</Reference>
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+      <Name lang="en">Odontoleukodystrophy</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">RNA polymerase III subunit A</Name>
+            <Symbol>POLR3A</Symbol>
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+              <Synonym lang="en">RPC1</Synonym>
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+              <Synonym lang="en">hRPC155</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000148606</Reference>
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+              <ExternalReference id="54758">
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+                <Reference>30074</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14802</Reference>
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+                <Reference>O14802</Reference>
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+      <Name lang="en">Gaucher disease type 3</Name>
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+            <Symbol>GBA1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>GBA</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Infantile neurovisceral acid sphingomyelinase deficiency</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Reference>9236</Reference>
+              </ExternalReference>
+              <ExternalReference id="82744">
+                <Source>IUPHAR</Source>
+                <Reference>595</Reference>
+              </ExternalReference>
+              <ExternalReference id="25048">
+                <Source>OMIM</Source>
+                <Reference>601487</Reference>
+              </ExternalReference>
+              <ExternalReference id="58728">
+                <Source>Reactome</Source>
+                <Reference>P37231</Reference>
+              </ExternalReference>
+              <ExternalReference id="33240">
+                <Source>SwissProt</Source>
+                <Reference>P37231</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21597">
+                <GeneLocus>3p25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11125">
+      <OrphaCode>79076</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79076</ExpertLink>
+      <Name lang="en">Juvenile polyposis of infancy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16685657[PMID]_22993021[PMID]_23331837[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193560">
+                <Source>IUPHAR</Source>
+                <Reference>2497</Reference>
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+              <ExternalReference id="25222">
+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+              <ExternalReference id="25221">
+                <Source>OMIM</Source>
+                <Reference>601728</Reference>
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+              <ExternalReference id="57051">
+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="33690">
+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+              <ExternalReference id="25224">
+                <Source>Genatlas</Source>
+                <Reference>PTEN</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16685657[PMID]_22993021[PMID]_23331837[PMID]</SourceOfValidation>
+          <Gene id="15372">
+            <Name lang="en">bone morphogenetic protein receptor type 1A</Name>
+            <Symbol>BMPR1A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ALK3</Synonym>
+              <Synonym lang="en">CD292</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="26201">
+                <Source>HGNC</Source>
+                <Reference>1076</Reference>
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+              <ExternalReference id="82788">
+                <Source>IUPHAR</Source>
+                <Reference>1786</Reference>
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+              <ExternalReference id="26200">
+                <Source>OMIM</Source>
+                <Reference>601299</Reference>
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+              <ExternalReference id="57726">
+                <Source>Reactome</Source>
+                <Reference>P36894</Reference>
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+              <ExternalReference id="33929">
+                <Source>SwissProt</Source>
+                <Reference>P36894</Reference>
+              </ExternalReference>
+              <ExternalReference id="57725">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107779</Reference>
+              </ExternalReference>
+              <ExternalReference id="26203">
+                <Source>Genatlas</Source>
+                <Reference>BMPR1A</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>10q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11131">
+      <OrphaCode>79087</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79087</ExpertLink>
+      <Name lang="en">Acquired partial lipodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16826530[PMID]</SourceOfValidation>
+          <Gene id="18960">
+            <Name lang="en">lamin B2</Name>
+            <Symbol>LMNB2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59276">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176619</Reference>
+              </ExternalReference>
+              <ExternalReference id="44174">
+                <Source>Genatlas</Source>
+                <Reference>LMNB2</Reference>
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+              <ExternalReference id="44175">
+                <Source>HGNC</Source>
+                <Reference>6638</Reference>
+              </ExternalReference>
+              <ExternalReference id="44176">
+                <Source>OMIM</Source>
+                <Reference>150341</Reference>
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+              <ExternalReference id="44177">
+                <Source>SwissProt</Source>
+                <Reference>Q03252</Reference>
+              </ExternalReference>
+              <ExternalReference id="143906">
+                <Source>Reactome</Source>
+                <Reference>Q03252</Reference>
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+                <GeneLocus>19p13.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11129">
+      <OrphaCode>79085</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79085</ExpertLink>
+      <Name lang="en">AKT2-related familial partial lipodystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16409151[PMID]_21865368[PMID]</SourceOfValidation>
+          <Gene id="18434">
+            <Name lang="en">AKT serine/threonine kinase 2</Name>
+            <Symbol>AKT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PKBß</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59274">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105221</Reference>
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+              <ExternalReference id="42191">
+                <Source>Genatlas</Source>
+                <Reference>AKT2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>392</Reference>
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+              <ExternalReference id="83141">
+                <Source>IUPHAR</Source>
+                <Reference>1480</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164731</Reference>
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+              <ExternalReference id="59275">
+                <Source>Reactome</Source>
+                <Reference>P31751</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P31751</Reference>
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+                <GeneLocus>19q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="11128">
+      <OrphaCode>79084</OrphaCode>
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+      <Name lang="en">Familial partial lipodystrophy, Köbberling type</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
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+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LMNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
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+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+      <Name lang="en">Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">MYHas8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125414</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7572</Reference>
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+                <Source>OMIM</Source>
+                <Reference>160740</Reference>
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+              <ExternalReference id="83006">
+                <Source>Reactome</Source>
+                <Reference>Q9UKX2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UKX2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">North Carolina macular dystrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="23671">
+            <Name lang="en">DNase1 hypersensitivity, chromosome 6, site 1</Name>
+            <Symbol>DHS6S1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+              <ExternalReference id="100216">
+                <Source>OMIM</Source>
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+                <GeneLocus>6q16.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Progressive bifocal chorioretinal atrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Bradyopsia</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">PERRS</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>30304</Reference>
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+                <Reference>607814</Reference>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>14702087[PMID]</SourceOfValidation>
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+            <Name lang="en">regulator of G protein signaling 9</Name>
+            <Symbol>RGS9</Symbol>
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+              <Synonym lang="en">MGC26458</Synonym>
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+              <Synonym lang="en">RGS9L</Synonym>
+              <Synonym lang="en">regulator of G protein signalling 9</Synonym>
+              <Synonym lang="en">regulator of G protein signalling 9L</Synonym>
+              <Synonym lang="en">regulator of G-protein signaling 9L</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000108370</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RGS9</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10004</Reference>
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+                <Reference>604067</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75916</Reference>
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+              <ExternalReference id="193554">
+                <Source>IUPHAR</Source>
+                <Reference>2817</Reference>
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+            <LocusList count="1">
+              <Locus id="66517">
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+    <Disorder id="11075">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=75376</ExpertLink>
+      <Name lang="en">Familial drusen</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C3b-INA</Synonym>
+              <Synonym lang="en">C3b-inactivator</Synonym>
+              <Synonym lang="en">FI</Synonym>
+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
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+            <Name lang="en">complement factor H</Name>
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+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>19850834[PMID]</SourceOfValidation>
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+            <Name lang="en">EGF containing fibulin extracellular matrix protein 1</Name>
+            <Symbol>EFEMP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Central areolar choroidal dystrophy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">guanylate cyclase activator 1A</Name>
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+              <Synonym lang="en">cone dystrophy 3</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="44147">
+                <Source>SwissProt</Source>
+                <Reference>P09871</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27745832[PMID]</SourceOfValidation>
+          <Gene id="22255">
+            <Name lang="en">complement C1r</Name>
+            <Symbol>C1R</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159403</Reference>
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+              <ExternalReference id="80745">
+                <Source>Genatlas</Source>
+                <Reference>C1R</Reference>
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+              <ExternalReference id="80743">
+                <Source>HGNC</Source>
+                <Reference>1246</Reference>
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+              <ExternalReference id="83945">
+                <Source>IUPHAR</Source>
+                <Reference>2334</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613785</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P00736</Reference>
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+              <ExternalReference id="80746">
+                <Source>SwissProt</Source>
+                <Reference>P00736</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>12p13.31</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+    <Disorder id="11083">
+      <OrphaCode>75496</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=75496</ExpertLink>
+      <Name lang="en">B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>15211654[PMID]</SourceOfValidation>
+          <Gene id="15350">
+            <Name lang="en">beta-1,4-galactosyltransferase 7</Name>
+            <Symbol>B4GALT7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">XGALT-1</Synonym>
+              <Synonym lang="en">beta4Gal-T7</Synonym>
+              <Synonym lang="en">galactosyltransferase I</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59261">
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+                <Reference>ENSG00000027847</Reference>
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+              <ExternalReference id="26100">
+                <Source>Genatlas</Source>
+                <Reference>B4GALT7</Reference>
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+              <ExternalReference id="26098">
+                <Source>HGNC</Source>
+                <Reference>930</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604327</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UBV7</Reference>
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+              <ExternalReference id="33907">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBV7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11084">
+      <OrphaCode>75497</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=75497</ExpertLink>
+      <Name lang="en">X-linked Ehlers-Danlos syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27739212[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+              <ExternalReference id="29504">
+                <Source>OMIM</Source>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>75563</OrphaCode>
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+      <Name lang="en">X-linked sideroblastic anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21309041[PMID]</SourceOfValidation>
+          <Gene id="15484">
+            <Name lang="en">5'-aminolevulinate synthase 2</Name>
+            <Symbol>ALAS2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">sideroblastic/hypochromic anemia</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59262">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158578</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ALAS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>397</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Acquired idiopathic sideroblastic anemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
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+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20032</Synonym>
+              <Synonym lang="en">ten-eleven translocation 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000168769</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">splicing factor 3b subunit 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115524</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Symbol>COL12A1</Symbol>
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+            <Name lang="en">inositol polyphosphate-5-phosphatase E</Name>
+            <Symbol>INPP5E</Symbol>
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+                <Reference>Q9NRR6</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11069">
+      <OrphaCode>75249</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=75249</ExpertLink>
+      <Name lang="en">Familial isolated restrictive cardiomyopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26666891[PMID]</SourceOfValidation>
+          <Gene id="16060">
+            <Name lang="en">filamin C</Name>
+            <Symbol>FLNC</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">ABPL</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">gamma filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59160">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128591</Reference>
+              </ExternalReference>
+              <ExternalReference id="29517">
+                <Source>Genatlas</Source>
+                <Reference>FLNC</Reference>
+              </ExternalReference>
+              <ExternalReference id="29515">
+                <Source>HGNC</Source>
+                <Reference>3756</Reference>
+              </ExternalReference>
+              <ExternalReference id="29514">
+                <Source>OMIM</Source>
+                <Reference>102565</Reference>
+              </ExternalReference>
+              <ExternalReference id="59161">
+                <Source>Reactome</Source>
+                <Reference>Q14315</Reference>
+              </ExternalReference>
+              <ExternalReference id="33075">
+                <Source>SwissProt</Source>
+                <Reference>Q14315</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20611">
+                <GeneLocus>7q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29357359[PMID]</SourceOfValidation>
+          <Gene id="26526">
+            <Name lang="en">kinesin family member 20A</Name>
+            <Symbol>KIF20A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="155708">
+                <Source>HGNC</Source>
+                <Reference>9787</Reference>
+              </ExternalReference>
+              <ExternalReference id="155709">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112984</Reference>
+              </ExternalReference>
+              <ExternalReference id="155710">
+                <Source>SwissProt</Source>
+                <Reference>O95235</Reference>
+              </ExternalReference>
+              <ExternalReference id="155711">
+                <Source>OMIM</Source>
+                <Reference>605664</Reference>
+              </ExternalReference>
+              <ExternalReference id="155712">
+                <Source>Genatlas</Source>
+                <Reference>KIF20A</Reference>
+              </ExternalReference>
+              <ExternalReference id="155713">
+                <Source>Reactome</Source>
+                <Reference>O95235</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="44413">
+                <GeneLocus>5q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12531876[PMID]</SourceOfValidation>
+          <Gene id="15638">
+            <Name lang="en">troponin I3, cardiac type</Name>
+            <Symbol>TNNI3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMH7</Synonym>
+              <Synonym lang="en">TNNC1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129991</Reference>
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+              <ExternalReference id="27487">
+                <Source>Genatlas</Source>
+                <Reference>TNNI3</Reference>
+              </ExternalReference>
+              <ExternalReference id="27489">
+                <Source>HGNC</Source>
+                <Reference>11947</Reference>
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+              <ExternalReference id="27488">
+                <Source>OMIM</Source>
+                <Reference>191044</Reference>
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+              <ExternalReference id="57489">
+                <Source>Reactome</Source>
+                <Reference>P19429</Reference>
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+              <ExternalReference id="32610">
+                <Source>SwissProt</Source>
+                <Reference>P19429</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.42</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16651346[PMID]</SourceOfValidation>
+          <Gene id="15640">
+            <Name lang="en">troponin T2, cardiac type</Name>
+            <Symbol>TNNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMPD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118194</Reference>
+              </ExternalReference>
+              <ExternalReference id="27497">
+                <Source>Genatlas</Source>
+                <Reference>TNNT2</Reference>
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+              <ExternalReference id="27499">
+                <Source>HGNC</Source>
+                <Reference>11949</Reference>
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+              <ExternalReference id="27498">
+                <Source>OMIM</Source>
+                <Reference>191045</Reference>
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+              <ExternalReference id="57491">
+                <Source>Reactome</Source>
+                <Reference>P45379</Reference>
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+              <ExternalReference id="32612">
+                <Source>SwissProt</Source>
+                <Reference>P45379</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q32.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22286171[PMID]</SourceOfValidation>
+          <Gene id="21896">
+            <Name lang="en">myopalladin</Name>
+            <Symbol>MYPN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'sarcomeric protein myopalladin, 145 kDa'</Synonym>
+              <Synonym lang="en">MYOP</Synonym>
+              <Synonym lang="en">Sarcomeric protein myopalladin, 145 kDa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83706">
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+                <Reference>ENSG00000138347</Reference>
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+                <Reference>MYPN</Reference>
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+              <ExternalReference id="77806">
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+                <Reference>23246</Reference>
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+              <ExternalReference id="77807">
+                <Source>OMIM</Source>
+                <Reference>608517</Reference>
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+              <ExternalReference id="77809">
+                <Source>SwissProt</Source>
+                <Reference>Q86TC9</Reference>
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+                <GeneLocus>10q21.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11068">
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+      <Name lang="en">Cholesteryl ester storage disease</Name>
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+            <Name lang="en">lipase A, lysosomal acid type</Name>
+            <Symbol>LIPA</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">LAL</Synonym>
+              <Synonym lang="en">Wolman disease</Synonym>
+              <Synonym lang="en">lysosomal acid lipase</Synonym>
+              <Synonym lang="en">sterol esterase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126359">
+                <Source>Reactome</Source>
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+              <ExternalReference id="59255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107798</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6617</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>75233</OrphaCode>
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+      <Name lang="en">Wolman disease</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">lipase A, lysosomal acid type</Name>
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+              <Synonym lang="en">Wolman disease</Synonym>
+              <Synonym lang="en">lysosomal acid lipase</Synonym>
+              <Synonym lang="en">sterol esterase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126359">
+                <Source>Reactome</Source>
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+              <ExternalReference id="59255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107798</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>6617</Reference>
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+                <Reference>613497</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=71290</ExpertLink>
+      <Name lang="en">Familial platelet disorder with associated myeloid malignancy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16866">
+            <Name lang="en">ETS variant transcription factor 6</Name>
+            <Symbol>ETV6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEL</Synonym>
+              <Synonym lang="en">TEL oncogene</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ETV6</Reference>
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+                <Reference>3495</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="15235">
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+            <SynonymList count="3">
+              <Synonym lang="en">AMLCR1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15617">
+            <Name lang="en">thrombopoietin</Name>
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+              <Synonym lang="en">MPL ligand</Synonym>
+              <Synonym lang="en">MPLLG</Synonym>
+              <Synonym lang="en">TPO</Synonym>
+              <Synonym lang="en">c-mpl ligand</Synonym>
+              <Synonym lang="en">megakaryocyte colony-stimulating factor</Synonym>
+              <Synonym lang="en">megakaryocyte growth and development factor</Synonym>
+              <Synonym lang="en">megakaryocyte stimulating factor</Synonym>
+              <Synonym lang="en">myeloproliferative leukemia virus oncogene ligand</Synonym>
+              <Synonym lang="en">prepro-thrombopoietin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>THPO</Reference>
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+                <Reference>11795</Reference>
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+                <Reference>600044</Reference>
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+              <ExternalReference id="59242">
+                <Source>Reactome</Source>
+                <Reference>P40225</Reference>
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+              <ExternalReference id="32588">
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+                <Reference>P40225</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22397670[PMID]</SourceOfValidation>
+          <Gene id="16279">
+            <Name lang="en">Janus kinase 2</Name>
+            <Symbol>JAK2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">JTK10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096968</Reference>
+              </ExternalReference>
+              <ExternalReference id="34986">
+                <Source>Genatlas</Source>
+                <Reference>JAK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30560">
+                <Source>HGNC</Source>
+                <Reference>6192</Reference>
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+              <ExternalReference id="82962">
+                <Source>IUPHAR</Source>
+                <Reference>2048</Reference>
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+                <Reference>147796</Reference>
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+              <ExternalReference id="57735">
+                <Source>Reactome</Source>
+                <Reference>O60674</Reference>
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+              <ExternalReference id="33344">
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+                <Reference>O60674</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="16460">
+            <Name lang="en">MPL proto-oncogene, thrombopoietin receptor</Name>
+            <Symbol>MPL</Symbol>
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+              <Synonym lang="en">CD110</Synonym>
+              <Synonym lang="en">THPOR</Synonym>
+              <Synonym lang="en">TPOR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117400</Reference>
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+              <ExternalReference id="31406">
+                <Source>Genatlas</Source>
+                <Reference>MPL</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1722</Reference>
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+                <Source>OMIM</Source>
+                <Reference>159530</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P40238</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40238</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26581901[PMID]</SourceOfValidation>
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+            <Name lang="en">MDS1 and EVI1 complex locus</Name>
+            <Symbol>MECOM</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KMT8E</Synonym>
+              <Synonym lang="en">MDS1-EVI1</Synonym>
+              <Synonym lang="en">PR domain 3</Synonym>
+              <Synonym lang="en">PRDM3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="38200">
+                <Source>SwissProt</Source>
+                <Reference>Q03112</Reference>
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+              <ExternalReference id="59124">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085276</Reference>
+              </ExternalReference>
+              <ExternalReference id="46833">
+                <Source>Genatlas</Source>
+                <Reference>MECOM</Reference>
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+              <ExternalReference id="38199">
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+                <Reference>3498</Reference>
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+              <ExternalReference id="38198">
+                <Source>OMIM</Source>
+                <Reference>165215</Reference>
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+              <ExternalReference id="97262">
+                <Source>Reactome</Source>
+                <Reference>Q03112</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11101832[PMID]</SourceOfValidation>
+          <Gene id="16429">
+            <Name lang="en">homeobox A11</Name>
+            <Symbol>HOXA11</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59240">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005073</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HOXA11</Reference>
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+              <ExternalReference id="34010">
+                <Source>HGNC</Source>
+                <Reference>5101</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P31270</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Obesity due to pro-opiomelanocortin deficiency</Name>
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+            <Symbol>POMC</Symbol>
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+              <Synonym lang="en">POC</Synonym>
+              <Synonym lang="en">adrenocorticotropic hormone</Synonym>
+              <Synonym lang="en">adrenocorticotropin</Synonym>
+              <Synonym lang="en">alpha-melanocyte stimulating hormone</Synonym>
+              <Synonym lang="en">beta-endorphin</Synonym>
+              <Synonym lang="en">beta-lipotropin</Synonym>
+              <Synonym lang="en">beta-melanocyte stimulating hormone</Synonym>
+              <Synonym lang="en">opiomelanocortin prepropeptide</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115138</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Obesity due to prohormone convertase I deficiency</Name>
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+              <Synonym lang="en">prohormone convertase 1</Synonym>
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+              <Synonym lang="en">proprotein convertase 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Obesity due to melanocortin 4 receptor deficiency</Name>
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+                <Source>Reactome</Source>
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+            <Symbol>ATP1A3</Symbol>
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+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-3</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-3</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105409</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Benign paroxysmal torticollis of infancy</Name>
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+                <Reference>ENSG00000141837</Reference>
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+                <Reference>1388</Reference>
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+                <Reference>532</Reference>
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+      <OrphaCode>569274</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=569274</ExpertLink>
+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 5</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28356563[PMID]</SourceOfValidation>
+          <Gene id="24632">
+            <Name lang="en">iron-sulfur cluster assembly 1</Name>
+            <Symbol>ISCA1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ISA1</Synonym>
+              <Synonym lang="en">MGC4276</Synonym>
+              <Synonym lang="en">hIscA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142951">
+                <Source>Reactome</Source>
+                <Reference>Q9BUE6</Reference>
+              </ExternalReference>
+              <ExternalReference id="142952">
+                <Source>Genatlas</Source>
+                <Reference>ISCA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="132181">
+                <Source>OMIM</Source>
+                <Reference>611006</Reference>
+              </ExternalReference>
+              <ExternalReference id="131449">
+                <Source>HGNC</Source>
+                <Reference>28660</Reference>
+              </ExternalReference>
+              <ExternalReference id="132907">
+                <Source>SwissProt</Source>
+                <Reference>Q9BUE6</Reference>
+              </ExternalReference>
+              <ExternalReference id="133342">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135070</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37625">
+                <GeneLocus>9q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28631">
+      <OrphaCode>569290</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=569290</ExpertLink>
+      <Name lang="en">Multiple mitochondrial dysfunctions syndrome type 6</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29576218[PMID]</SourceOfValidation>
+          <Gene id="28749">
+            <Name lang="en">peptidase, mitochondrial processing subunit beta</Name>
+            <Symbol>PMPCB</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MAS1</Synonym>
+              <Synonym lang="en">MPPB</Synonym>
+              <Synonym lang="en">MPPP52</Synonym>
+              <Synonym lang="en">beta-MPP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="179563">
+                <Source>HGNC</Source>
+                <Reference>9119</Reference>
+              </ExternalReference>
+              <ExternalReference id="179564">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105819</Reference>
+              </ExternalReference>
+              <ExternalReference id="179565">
+                <Source>SwissProt</Source>
+                <Reference>O75439</Reference>
+              </ExternalReference>
+              <ExternalReference id="179566">
+                <Source>Reactome</Source>
+                <Reference>O75439</Reference>
+              </ExternalReference>
+              <ExternalReference id="179567">
+                <Source>OMIM</Source>
+                <Reference>603131</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="54155">
+                <GeneLocus>7q22.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28626">
+      <OrphaCode>569248</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=569248</ExpertLink>
+      <Name lang="en">Microcystic stromal tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28551672[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
+              </ExternalReference>
+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
+              </ExternalReference>
+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
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+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24375">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11037">
+      <OrphaCode>73229</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=73229</ExpertLink>
+      <Name lang="en">HANAC syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18160688[PMID]_20301768[PMID]</SourceOfValidation>
+          <Gene id="15771">
+            <Name lang="en">collagen type IV alpha 1 chain</Name>
+            <Symbol>COL4A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58311">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187498</Reference>
+              </ExternalReference>
+              <ExternalReference id="28109">
+                <Source>Genatlas</Source>
+                <Reference>COL4A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28111">
+                <Source>HGNC</Source>
+                <Reference>2202</Reference>
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+              <ExternalReference id="28110">
+                <Source>OMIM</Source>
+                <Reference>120130</Reference>
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+              <ExternalReference id="58312">
+                <Source>Reactome</Source>
+                <Reference>P02462</Reference>
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+              <ExternalReference id="32743">
+                <Source>SwissProt</Source>
+                <Reference>P02462</Reference>
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+                <GeneLocus>13q34</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10461">
+      <OrphaCode>40050</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=40050</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Psoriatic arthritis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16877">
+            <Name lang="en">tumor necrosis factor</Name>
+            <Symbol>TNF</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DIF</Synonym>
+              <Synonym lang="en">TNF superfamily, member 2</Synonym>
+              <Synonym lang="en">TNF-alpha</Synonym>
+              <Synonym lang="en">TNFSF2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82600">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000232810</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>11892</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Familial apolipoprotein A5 deficiency</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>APOA5</Symbol>
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+              <Synonym lang="en">APOA-V</Synonym>
+              <Synonym lang="en">RAP3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58784">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110243</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>APOA5</Reference>
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+                <Reference>17288</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606368</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q6Q788</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6Q788</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="10452">
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+      <Name lang="en">Omenn syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15080">
+            <Name lang="en">adenosine deaminase</Name>
+            <Symbol>ADA</Symbol>
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+              <Synonym lang="en">ADA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196839</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">recombination activating 1</Name>
+            <Symbol>RAG1</Symbol>
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+              <Synonym lang="en">recombination activating protein 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation/>
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+            <Name lang="en">chromodomain helicase DNA binding protein 7</Name>
+            <Symbol>CHD7</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">KIAA1416</Synonym>
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+                <Reference>ENSG00000171316</Reference>
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+                <Reference>20626</Reference>
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+                <Reference>Q9P2D1</Reference>
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+              <Synonym lang="en">SNM1C</Synonym>
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+                <Reference>ENSG00000152457</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DCLRE1C</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q96SD1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16257">
+            <Name lang="en">interleukin 2 receptor subunit gamma</Name>
+            <Symbol>IL2RG</Symbol>
+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000147168</Reference>
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+                <Reference>6010</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+            <Name lang="en">DNA ligase 4</Name>
+            <Symbol>LIG4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DNA joinase</Synonym>
+              <Synonym lang="en">DNA repair enzyme</Synonym>
+              <Synonym lang="en">polydeoxyribonucleotide synthase [ATP] 4</Synonym>
+              <Synonym lang="en">polynucleotide ligase</Synonym>
+              <Synonym lang="en">sealase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000174405</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16831">
+            <Name lang="en">RNA component of mitochondrial RNA processing endoribonuclease</Name>
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+              <Synonym lang="en">RRP2</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Reference>ENSG00000277027</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="17386">
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+              <Synonym lang="en">IL7RA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000168685</Reference>
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+                <Reference>6024</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">KRT1-related diffuse nonepidermolytic keratoderma</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">keratin 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>O75533</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=530792</ExpertLink>
+      <Name lang="en">RELA fusion-positive ependymoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="22678">
+            <Name lang="en">zinc finger translocation associated</Name>
+            <Symbol>ZFTA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC3032</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="88037">
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+                <Reference>ENSG00000188070</Reference>
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+              <ExternalReference id="87848">
+                <Source>Genatlas</Source>
+                <Reference>C11orf95</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28449</Reference>
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+              <ExternalReference id="87847">
+                <Source>OMIM</Source>
+                <Reference>615699</Reference>
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+              <ExternalReference id="87849">
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+                <Reference>C9JLR9</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="22677">
+            <Name lang="en">RELA proto-oncogene, NF-kB subunit</Name>
+            <Symbol>RELA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p65</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="88036">
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+                <Reference>ENSG00000173039</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RELA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9955</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164014</Reference>
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+              <ExternalReference id="88035">
+                <Source>Reactome</Source>
+                <Reference>Q04206</Reference>
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+                <Reference>Q04206</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Dihydropyrimidinuria</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>9718352[PMID]_20362666[PMID]</SourceOfValidation>
+          <Gene id="15888">
+            <Name lang="en">dihydropyrimidinase</Name>
+            <Symbol>DPYS</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q14117</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14117</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147647</Reference>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>SERPINI1</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15889">
+            <Name lang="en">dopamine receptor D2</Name>
+            <Symbol>DRD2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59048">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149295</Reference>
+              </ExternalReference>
+              <ExternalReference id="36984">
+                <Source>Genatlas</Source>
+                <Reference>DRD2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28669">
+                <Source>HGNC</Source>
+                <Reference>3023</Reference>
+              </ExternalReference>
+              <ExternalReference id="82883">
+                <Source>IUPHAR</Source>
+                <Reference>215</Reference>
+              </ExternalReference>
+              <ExternalReference id="28668">
+                <Source>OMIM</Source>
+                <Reference>126450</Reference>
+              </ExternalReference>
+              <ExternalReference id="59049">
+                <Source>Reactome</Source>
+                <Reference>P14416</Reference>
+              </ExternalReference>
+              <ExternalReference id="32900">
+                <Source>SwissProt</Source>
+                <Reference>P14416</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18691">
+                <GeneLocus>11q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21206">
+            <Name lang="en">dystonia 15, myoclonic</Name>
+            <Symbol>DYT15</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="70448">
+                <Source>HGNC</Source>
+                <Reference>31376</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12061">
+                <GeneLocus>18p11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25983243[PMID]</SourceOfValidation>
+          <Gene id="25122">
+            <Name lang="en">potassium channel tetramerization domain containing 17</Name>
+            <Symbol>KCTD17</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ12242</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135130">
+                <Source>HGNC</Source>
+                <Reference>25705</Reference>
+              </ExternalReference>
+              <ExternalReference id="135131">
+                <Source>OMIM</Source>
+                <Reference>616386</Reference>
+              </ExternalReference>
+              <ExternalReference id="135132">
+                <Source>Genatlas</Source>
+                <Reference>KCTD17</Reference>
+              </ExternalReference>
+              <ExternalReference id="135133">
+                <Source>SwissProt</Source>
+                <Reference>Q8N5Z5</Reference>
+              </ExternalReference>
+              <ExternalReference id="143520">
+                <Source>Reactome</Source>
+                <Reference>Q8N5Z5</Reference>
+              </ExternalReference>
+              <ExternalReference id="135134">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100379</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38737">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10464">
+      <OrphaCode>41751</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=41751</ExpertLink>
+      <Name lang="en">Bietti crystalline dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15042513[PMID]_21565171[PMID]_22497028[PMID]</SourceOfValidation>
+          <Gene id="15843">
+            <Name lang="en">cytochrome P450 family 4 subfamily V member 2</Name>
+            <Symbol>CYP4V2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CYP4AH1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193626">
+                <Source>IUPHAR</Source>
+                <Reference>1350</Reference>
+              </ExternalReference>
+              <ExternalReference id="59059">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145476</Reference>
+              </ExternalReference>
+              <ExternalReference id="28454">
+                <Source>Genatlas</Source>
+                <Reference>CYP4V2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28456">
+                <Source>HGNC</Source>
+                <Reference>23198</Reference>
+              </ExternalReference>
+              <ExternalReference id="28455">
+                <Source>OMIM</Source>
+                <Reference>608614</Reference>
+              </ExternalReference>
+              <ExternalReference id="98055">
+                <Source>Reactome</Source>
+                <Reference>Q6ZWL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32854">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZWL3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10466">
+      <OrphaCode>42062</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=42062</ExpertLink>
+      <Name lang="en">Iminoglycinuria</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19033659[PMID]</SourceOfValidation>
+          <Gene id="17977">
+            <Name lang="en">solute carrier family 6 member 20</Name>
+            <Symbol>SLC6A20</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">IMINO</Synonym>
+              <Synonym lang="en">SIT1</Synonym>
+              <Synonym lang="en">XT3</Synonym>
+              <Synonym lang="en">Xtrp3</Synonym>
+              <Synonym lang="en">sodium-dependent imino acid transporter 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190368">
+                <Source>IUPHAR</Source>
+                <Reference>944</Reference>
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+              <ExternalReference id="59062">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163817</Reference>
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+              <ExternalReference id="40582">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A20</Reference>
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+              <ExternalReference id="40583">
+                <Source>HGNC</Source>
+                <Reference>30927</Reference>
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+              <ExternalReference id="40584">
+                <Source>OMIM</Source>
+                <Reference>605616</Reference>
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+              <ExternalReference id="59063">
+                <Source>Reactome</Source>
+                <Reference>Q9NP91</Reference>
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+              <ExternalReference id="40585">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP91</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19033659[PMID]</SourceOfValidation>
+          <Gene id="17976">
+            <Name lang="en">solute carrier family 36 member 2</Name>
+            <Symbol>SLC36A2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PAT2</Synonym>
+              <Synonym lang="en">TRAMD1</Synonym>
+              <Synonym lang="en">tramdorin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190369">
+                <Source>IUPHAR</Source>
+                <Reference>1162</Reference>
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+              <ExternalReference id="59061">
+                <Source>Reactome</Source>
+                <Reference>Q495M3</Reference>
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+              <ExternalReference id="40580">
+                <Source>SwissProt</Source>
+                <Reference>Q495M3</Reference>
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+              <ExternalReference id="59060">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186335</Reference>
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+              <ExternalReference id="40577">
+                <Source>Genatlas</Source>
+                <Reference>SLC36A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18762</Reference>
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+              <ExternalReference id="40579">
+                <Source>OMIM</Source>
+                <Reference>608331</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19033659[PMID]</SourceOfValidation>
+          <Gene id="17978">
+            <Name lang="en">solute carrier family 6 member 18</Name>
+            <Symbol>SLC6A18</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ31236</Synonym>
+              <Synonym lang="en">Xtrp2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59064">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164363</Reference>
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+              <ExternalReference id="40587">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A18</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26441</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610300</Reference>
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+              <ExternalReference id="59065">
+                <Source>Reactome</Source>
+                <Reference>Q96N87</Reference>
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+              <ExternalReference id="40590">
+                <Source>SwissProt</Source>
+                <Reference>Q96N87</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>941</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19033659[PMID]</SourceOfValidation>
+          <Gene id="15518">
+            <Name lang="en">solute carrier family 6 member 19</Name>
+            <Symbol>SLC6A19</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Hartnup disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57344">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174358</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC6A19</Reference>
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+                <Source>HGNC</Source>
+                <Reference>27960</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q695T7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q695T7</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>939</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">succinyl-CoA:glutarate-CoA transferase</Name>
+            <Symbol>SUGCT</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">FLJ11808</Synonym>
+              <Synonym lang="en">ORF19</Synonym>
+              <Synonym lang="en">Russel-Silver syndrome candidate</Synonym>
+              <Synonym lang="en">dermal papilla derived protein 13</Synonym>
+              <Synonym lang="en">succinate-hydroxymethylglutarate CoA-transferase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175600</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>C7orf10</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16001</Reference>
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+              <ExternalReference id="39989">
+                <Source>OMIM</Source>
+                <Reference>609187</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HAC7</Reference>
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+      <Name lang="en">L-Arginine:glycine amidinotransferase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16105">
+            <Name lang="en">glycine amidinotransferase</Name>
+            <Symbol>GATM</Symbol>
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+              <Synonym lang="en">AGAT</Synonym>
+              <Synonym lang="en">L-arginine:glycine amidinotransferase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1246</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171766</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GATM</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4175</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602360</Reference>
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+              <ExternalReference id="59020">
+                <Source>Reactome</Source>
+                <Reference>P50440</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P50440</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>35710</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35710</ExpertLink>
+      <Name lang="en">Glucose-galactose malabsorption</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>8563765[PMID]_12139397[PMID]</SourceOfValidation>
+          <Gene id="15515">
+            <Name lang="en">solute carrier family 5 member 1</Name>
+            <Symbol>SLC5A1</Symbol>
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+              <Synonym lang="en">D22S675</Synonym>
+              <Synonym lang="en">NAGT</Synonym>
+              <Synonym lang="en">sodium/glucose cotransporter 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59024">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100170</Reference>
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+              <ExternalReference id="26898">
+                <Source>Genatlas</Source>
+                <Reference>SLC5A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11036</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182380</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13866</Reference>
+              </ExternalReference>
+              <ExternalReference id="32486">
+                <Source>SwissProt</Source>
+                <Reference>P13866</Reference>
+              </ExternalReference>
+              <ExternalReference id="193651">
+                <Source>IUPHAR</Source>
+                <Reference>915</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66711">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10399">
+      <OrphaCode>35737</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35737</ExpertLink>
+      <Name lang="en">Morning glory disc anomaly</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12721955[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
+              </ExternalReference>
+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
+              </ExternalReference>
+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
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+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10397">
+      <OrphaCode>35708</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35708</ExpertLink>
+      <Name lang="en">Aromatic L-amino acid decarboxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21541720[PMID]_24865461[PMID]</SourceOfValidation>
+          <Gene id="15856">
+            <Name lang="en">dopa decarboxylase</Name>
+            <Symbol>DDC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AADC</Synonym>
+              <Synonym lang="en">aromatic L-amino acid decarboxylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59022">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132437</Reference>
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+              <ExternalReference id="28516">
+                <Source>Genatlas</Source>
+                <Reference>DDC</Reference>
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+              <ExternalReference id="28514">
+                <Source>HGNC</Source>
+                <Reference>2719</Reference>
+              </ExternalReference>
+              <ExternalReference id="82880">
+                <Source>IUPHAR</Source>
+                <Reference>1271</Reference>
+              </ExternalReference>
+              <ExternalReference id="28513">
+                <Source>OMIM</Source>
+                <Reference>107930</Reference>
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+              <ExternalReference id="59023">
+                <Source>Reactome</Source>
+                <Reference>P20711</Reference>
+              </ExternalReference>
+              <ExternalReference id="32867">
+                <Source>SwissProt</Source>
+                <Reference>P20711</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>7p12.2-p12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10385">
+      <OrphaCode>35689</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35689</ExpertLink>
+      <Name lang="en">Primary lateral sclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27123479[PMID]</SourceOfValidation>
+          <Gene id="15548">
+            <Name lang="en">SPG7 matrix AAA peptidase subunit, paraplegin</Name>
+            <Symbol>SPG7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CAR</Synonym>
+              <Synonym lang="en">SPG5C</Synonym>
+              <Synonym lang="en">paraplegin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143487">
+                <Source>Reactome</Source>
+                <Reference>Q9UQ90</Reference>
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+              <ExternalReference id="59899">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197912</Reference>
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+              <ExternalReference id="27057">
+                <Source>Genatlas</Source>
+                <Reference>SPG7</Reference>
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+              <ExternalReference id="27059">
+                <Source>HGNC</Source>
+                <Reference>11237</Reference>
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+              <ExternalReference id="27058">
+                <Source>OMIM</Source>
+                <Reference>602783</Reference>
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+              <ExternalReference id="32519">
+                <Source>SwissProt</Source>
+                <Reference>Q9UQ90</Reference>
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+            <LocusList count="1">
+              <Locus id="38679">
+                <GeneLocus>16q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10391">
+      <OrphaCode>35701</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35701</ExpertLink>
+      <Name lang="en">3-hydroxy-3-methylglutaryl-CoA synthase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11479731[PMID]_23751782[PMID]</SourceOfValidation>
+          <Gene id="16209">
+            <Name lang="en">3-hydroxy-3-methylglutaryl-CoA synthase 2</Name>
+            <Symbol>HMGCS2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59017">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134240</Reference>
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+              <ExternalReference id="30236">
+                <Source>Genatlas</Source>
+                <Reference>HMGCS2</Reference>
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+              <ExternalReference id="30234">
+                <Source>HGNC</Source>
+                <Reference>5008</Reference>
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+              <ExternalReference id="82952">
+                <Source>IUPHAR</Source>
+                <Reference>2432</Reference>
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+              <ExternalReference id="30233">
+                <Source>OMIM</Source>
+                <Reference>600234</Reference>
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+              <ExternalReference id="59018">
+                <Source>Reactome</Source>
+                <Reference>P54868</Reference>
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+              <ExternalReference id="33273">
+                <Source>SwissProt</Source>
+                <Reference>P54868</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10378">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35612</ExpertLink>
+      <Name lang="en">Nanophthalmos</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">membrane frizzled-related protein</Name>
+            <Symbol>MFRP</Symbol>
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+              <Synonym lang="en">C1QTNF5</Synonym>
+              <Synonym lang="en">C1q and TNF related 5</Synonym>
+              <Synonym lang="en">FLJ30570</Synonym>
+              <Synonym lang="en">NNO2</Synonym>
+              <Synonym lang="en">membrane-type frizzled-related protein</Synonym>
+              <Synonym lang="en">rd6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82598">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000235718</Reference>
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+                <Reference>18121</Reference>
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+                <Reference>606227</Reference>
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+              <ExternalReference id="33459">
+                <Source>SwissProt</Source>
+                <Reference>Q9BY79</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">transmembrane protein 98</Name>
+            <Symbol>TMEM98</Symbol>
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+              <Synonym lang="en">DKFZP564K1964</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>24529</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2Y6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">orthodenticle homeobox 2</Name>
+            <Symbol>OTX2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165588</Reference>
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+                <Reference>8522</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15297">
+            <Name lang="en">SIX homeobox 6</Name>
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+              <Synonym lang="en">Six9</Synonym>
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+                <Reference>10892</Reference>
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+            <Name lang="en">retina and anterior neural fold homeobox</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">aldehyde dehydrogenase 1 family member A3</Name>
+            <Symbol>ALDH1A3</Symbol>
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+              <Synonym lang="en">Retinaldehyde dehydrogenase 3</Synonym>
+              <Synonym lang="en">retinaldehyde dehydrogenase 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184254</Reference>
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+                <Reference>600463</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P47895</Reference>
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+          <SourceOfValidation>21850159[PMID]</SourceOfValidation>
+          <Gene id="20135">
+            <Name lang="en">serine protease 56</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>39433</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613858</Reference>
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+                <Source>SwissProt</Source>
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+              <Locus id="11407">
+                <GeneLocus>2q37.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24033328[PMID]</SourceOfValidation>
+          <Gene id="15540">
+            <Name lang="en">SRY-box transcription factor 2</Name>
+            <Symbol>SOX2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58339">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181449</Reference>
+              </ExternalReference>
+              <ExternalReference id="27018">
+                <Source>Genatlas</Source>
+                <Reference>SOX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27020">
+                <Source>HGNC</Source>
+                <Reference>11195</Reference>
+              </ExternalReference>
+              <ExternalReference id="27019">
+                <Source>OMIM</Source>
+                <Reference>184429</Reference>
+              </ExternalReference>
+              <ExternalReference id="87969">
+                <Source>Reactome</Source>
+                <Reference>P48431</Reference>
+              </ExternalReference>
+              <ExternalReference id="32511">
+                <Source>SwissProt</Source>
+                <Reference>P48431</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18703">
+                <GeneLocus>3q26.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19375515[PMID]</SourceOfValidation>
+          <Gene id="15368">
+            <Name lang="en">bestrophin 1</Name>
+            <Symbol>BEST1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BEST</Synonym>
+              <Synonym lang="en">BMD</Synonym>
+              <Synonym lang="en">Best disease</Synonym>
+              <Synonym lang="en">RP50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167995</Reference>
+              </ExternalReference>
+              <ExternalReference id="36509">
+                <Source>Genatlas</Source>
+                <Reference>BEST1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26183">
+                <Source>HGNC</Source>
+                <Reference>12703</Reference>
+              </ExternalReference>
+              <ExternalReference id="26182">
+                <Source>OMIM</Source>
+                <Reference>607854</Reference>
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+              <ExternalReference id="82787">
+                <Source>Reactome</Source>
+                <Reference>O76090</Reference>
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+              <ExternalReference id="33925">
+                <Source>SwissProt</Source>
+                <Reference>O76090</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19375515[PMID]</SourceOfValidation>
+          <Gene id="15798">
+            <Name lang="en">crumbs cell polarity complex component 1</Name>
+            <Symbol>CRB1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LCA8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134376</Reference>
+              </ExternalReference>
+              <ExternalReference id="28240">
+                <Source>Genatlas</Source>
+                <Reference>CRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28242">
+                <Source>HGNC</Source>
+                <Reference>2343</Reference>
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+              <ExternalReference id="28241">
+                <Source>OMIM</Source>
+                <Reference>604210</Reference>
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+              <ExternalReference id="32770">
+                <Source>SwissProt</Source>
+                <Reference>P82279</Reference>
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+              <ExternalReference id="143962">
+                <Source>Reactome</Source>
+                <Reference>P82279</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10376">
+      <OrphaCode>35173</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35173</ExpertLink>
+      <Name lang="en">X-linked dominant chondrodysplasia punctata</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21634086[PMID]</SourceOfValidation>
+          <Gene id="15904">
+            <Name lang="en">EBP cholestenol delta-isomerase</Name>
+            <Symbol>EBP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">3-beta-hydroxysteroid-delta-8,delta-7-isomerase</Synonym>
+              <Synonym lang="en">CHO2</Synonym>
+              <Synonym lang="en">CPX</Synonym>
+              <Synonym lang="en">CPXD</Synonym>
+              <Synonym lang="en">Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)</Synonym>
+              <Synonym lang="en">sterol 8-isomerase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32917">
+                <Source>SwissProt</Source>
+                <Reference>Q15125</Reference>
+              </ExternalReference>
+              <ExternalReference id="59014">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147155</Reference>
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+              <ExternalReference id="28739">
+                <Source>Genatlas</Source>
+                <Reference>EBP</Reference>
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+              <ExternalReference id="28737">
+                <Source>HGNC</Source>
+                <Reference>3133</Reference>
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+              <ExternalReference id="28736">
+                <Source>OMIM</Source>
+                <Reference>300205</Reference>
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+              <ExternalReference id="59015">
+                <Source>Reactome</Source>
+                <Reference>Q15125</Reference>
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+    <Disorder id="10381">
+      <OrphaCode>35664</OrphaCode>
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+      <Name lang="en">ALDH18A1-related De Barsy syndrome</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21739576[PMID]</SourceOfValidation>
+          <Gene id="15486">
+            <Name lang="en">aldehyde dehydrogenase 18 family member A1</Name>
+            <Symbol>ALDH18A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">P5CS</Synonym>
+              <Synonym lang="en">delta-1-pyrroline-5-carboxylate synthase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26761">
+                <Source>HGNC</Source>
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+              <ExternalReference id="26760">
+                <Source>OMIM</Source>
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+              <ExternalReference id="60161">
+                <Source>Reactome</Source>
+                <Reference>P54886</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P54886</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000059573</Reference>
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+              <ExternalReference id="26759">
+                <Source>Genatlas</Source>
+                <Reference>ALDH18A1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="10371">
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+      <Name lang="en">Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11369620[PMID]_12714505[PMID]</SourceOfValidation>
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+            <Name lang="en">5'-nucleotidase, cytosolic IIIA</Name>
+            <Symbol>NT5C3A</Symbol>
+            <SynonymList count="10">
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+              <Synonym lang="en">PN-I</Synonym>
+              <Synonym lang="en">POMP</Synonym>
+              <Synonym lang="en">PSN1</Synonym>
+              <Synonym lang="en">UMPH</Synonym>
+              <Synonym lang="en">UMPH1</Synonym>
+              <Synonym lang="en">cN-III</Synonym>
+              <Synonym lang="en">hUMP1</Synonym>
+              <Synonym lang="en">lupin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122643</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="59008">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H0P0</Reference>
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+      <Name lang="en">Desmosterolosis</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">24-dehydrocholesterol reductase</Name>
+            <Symbol>DHCR24</Symbol>
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+              <Synonym lang="en">Delta(24)-sterol reductase</Synonym>
+              <Synonym lang="en">KIAA0018</Synonym>
+              <Synonym lang="en">seladin-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116133</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>2859</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q15392</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">transcription factor 12</Name>
+            <Symbol>TCF12</Symbol>
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+              <Synonym lang="en">Helix-loop-helix transcription factor 4</Synonym>
+              <Synonym lang="en">HsT17266</Synonym>
+              <Synonym lang="en">bHLHb20</Synonym>
+              <Synonym lang="en">helix-loop-helix transcription factor 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140262</Reference>
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+                <Reference>11623</Reference>
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+                <Source>Reactome</Source>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17343269[PMID]</SourceOfValidation>
+          <Gene id="15676">
+            <Name lang="en">twist family bHLH transcription factor 1</Name>
+            <Symbol>TWIST1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BPES2</Synonym>
+              <Synonym lang="en">CRS1</Synonym>
+              <Synonym lang="en">H-twist</Synonym>
+              <Synonym lang="en">SCS</Synonym>
+              <Synonym lang="en">Saethre-Chotzen syndrome</Synonym>
+              <Synonym lang="en">bHLHa38</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135049">
+                <Source>Reactome</Source>
+                <Reference>Q15672</Reference>
+              </ExternalReference>
+              <ExternalReference id="27669">
+                <Source>HGNC</Source>
+                <Reference>12428</Reference>
+              </ExternalReference>
+              <ExternalReference id="27668">
+                <Source>OMIM</Source>
+                <Reference>601622</Reference>
+              </ExternalReference>
+              <ExternalReference id="32648">
+                <Source>SwissProt</Source>
+                <Reference>Q15672</Reference>
+              </ExternalReference>
+              <ExternalReference id="57039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122691</Reference>
+              </ExternalReference>
+              <ExternalReference id="27667">
+                <Source>Genatlas</Source>
+                <Reference>TWIST1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35929">
+                <GeneLocus>7p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10373">
+      <OrphaCode>35122</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35122</ExpertLink>
+      <Name lang="en">Congenital sucrase-isomaltase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15293">
+            <Name lang="en">sucrase-isomaltase</Name>
+            <Symbol>SI</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Alpha-methylglucosidase</Synonym>
+              <Synonym lang="en">Oligo-1,6-glucosidase</Synonym>
+              <Synonym lang="en">Oligosaccharide alpha-1,6-glucosidase</Synonym>
+              <Synonym lang="en">alpha-glucosidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59010">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090402</Reference>
+              </ExternalReference>
+              <ExternalReference id="25823">
+                <Source>Genatlas</Source>
+                <Reference>SI</Reference>
+              </ExternalReference>
+              <ExternalReference id="25825">
+                <Source>HGNC</Source>
+                <Reference>10856</Reference>
+              </ExternalReference>
+              <ExternalReference id="25824">
+                <Source>OMIM</Source>
+                <Reference>609845</Reference>
+              </ExternalReference>
+              <ExternalReference id="59011">
+                <Source>Reactome</Source>
+                <Reference>P14410</Reference>
+              </ExternalReference>
+              <ExternalReference id="33851">
+                <Source>SwissProt</Source>
+                <Reference>P14410</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23001">
+                <GeneLocus>3q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10424">
+      <OrphaCode>36387</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=36387</ExpertLink>
+      <Name lang="en">Generalized epilepsy with febrile seizures-plus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30351409[PMID]</SourceOfValidation>
+          <Gene id="23069">
+            <Name lang="en">hyperpolarization activated cyclic nucleotide gated potassium channel 1</Name>
+            <Symbol>HCN1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BCNG-1</Synonym>
+              <Synonym lang="en">HAC-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="94917">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164588</Reference>
+              </ExternalReference>
+              <ExternalReference id="94914">
+                <Source>Genatlas</Source>
+                <Reference>HCN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="94912">
+                <Source>HGNC</Source>
+                <Reference>4845</Reference>
+              </ExternalReference>
+              <ExternalReference id="94935">
+                <Source>IUPHAR</Source>
+                <Reference>400</Reference>
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+              <ExternalReference id="94913">
+                <Source>OMIM</Source>
+                <Reference>602780</Reference>
+              </ExternalReference>
+              <ExternalReference id="94916">
+                <Source>Reactome</Source>
+                <Reference>O60741</Reference>
+              </ExternalReference>
+              <ExternalReference id="94915">
+                <Source>SwissProt</Source>
+                <Reference>O60741</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14003">
+                <GeneLocus>5p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301494[PMID]</SourceOfValidation>
+          <Gene id="15250">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 1</Name>
+            <Symbol>SCN1A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GEFSP2</Synonym>
+              <Synonym lang="en">HBSCI</Synonym>
+              <Synonym lang="en">NAC1</Synonym>
+              <Synonym lang="en">Nav1.1</Synonym>
+              <Synonym lang="en">SMEI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144285</Reference>
+              </ExternalReference>
+              <ExternalReference id="36261">
+                <Source>Genatlas</Source>
+                <Reference>SCN1A</Reference>
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+              <ExternalReference id="25618">
+                <Source>HGNC</Source>
+                <Reference>10585</Reference>
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+              <ExternalReference id="82769">
+                <Source>IUPHAR</Source>
+                <Reference>578</Reference>
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+              <ExternalReference id="25617">
+                <Source>OMIM</Source>
+                <Reference>182389</Reference>
+              </ExternalReference>
+              <ExternalReference id="57930">
+                <Source>Reactome</Source>
+                <Reference>P35498</Reference>
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+              <ExternalReference id="33808">
+                <Source>SwissProt</Source>
+                <Reference>P35498</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15251">
+            <Name lang="en">sodium voltage-gated channel beta subunit 1</Name>
+            <Symbol>SCN1B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105711</Reference>
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+              <ExternalReference id="25624">
+                <Source>Genatlas</Source>
+                <Reference>SCN1B</Reference>
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+              <ExternalReference id="25622">
+                <Source>HGNC</Source>
+                <Reference>10586</Reference>
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+              <ExternalReference id="25621">
+                <Source>OMIM</Source>
+                <Reference>600235</Reference>
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+              <ExternalReference id="58779">
+                <Source>Reactome</Source>
+                <Reference>Q07699</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q07699</Reference>
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+              <Locus id="24925">
+                <GeneLocus>19q13.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15252">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 2</Name>
+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HBSCI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57764">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136531</Reference>
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+              <ExternalReference id="36262">
+                <Source>Genatlas</Source>
+                <Reference>SCN2A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10588</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>579</Reference>
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+                <Source>OMIM</Source>
+                <Reference>182390</Reference>
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+              <ExternalReference id="57765">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q99250</Reference>
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+                <GeneLocus>2q24.3</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15255">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 9</Name>
+            <Symbol>SCN9A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ETHA</Synonym>
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+              <Synonym lang="en">NENA</Synonym>
+              <Synonym lang="en">Nav1.7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169432</Reference>
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+                <Reference>SCN9A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10597</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>584</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603415</Reference>
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+              <ExternalReference id="58130">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit delta</Name>
+            <Symbol>GABRD</Symbol>
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+              <Synonym lang="en">GABA(A) receptor, delta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187730</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O14764</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit gamma2</Name>
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+              <Synonym lang="en">GABA(A) receptor, gamma 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>4087</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>414</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">syntaxin 1B</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099365</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18539</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P61266</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">adhesion G protein-coupled receptor V1</Name>
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+              <Synonym lang="en">FEB4</Synonym>
+              <Synonym lang="en">KIAA0686</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164199</Reference>
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+              <ExternalReference id="99982">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>17416</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>189</Reference>
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+                <Reference>602851</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WXG9</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Hypocomplementemic urticarial vasculitis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23666765[PMID]</SourceOfValidation>
+          <Gene id="20797">
+            <Name lang="en">deoxyribonuclease 1 like 3</Name>
+            <Symbol>DNASE1L3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DNAS1L3</Synonym>
+              <Synonym lang="en">DNase gamma</Synonym>
+              <Synonym lang="en">LSD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60746">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163687</Reference>
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+              <ExternalReference id="60744">
+                <Source>Genatlas</Source>
+                <Reference>DNASE1L3</Reference>
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+              <ExternalReference id="60742">
+                <Source>HGNC</Source>
+                <Reference>2959</Reference>
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+              <ExternalReference id="60743">
+                <Source>OMIM</Source>
+                <Reference>602244</Reference>
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+              <ExternalReference id="60745">
+                <Source>SwissProt</Source>
+                <Reference>Q13609</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>3p14.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10430">
+      <OrphaCode>36426</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=36426</ExpertLink>
+      <Name lang="en">Stevens-Johnson syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16200">
+            <Name lang="en">major histocompatibility complex, class I, B</Name>
+            <Symbol>HLA-B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="82639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000234745</Reference>
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+              <ExternalReference id="30186">
+                <Source>Genatlas</Source>
+                <Reference>HLA-B</Reference>
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+              <ExternalReference id="30188">
+                <Source>HGNC</Source>
+                <Reference>4932</Reference>
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+              <ExternalReference id="30187">
+                <Source>OMIM</Source>
+                <Reference>142830</Reference>
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+              <ExternalReference id="135296">
+                <Source>SwissProt</Source>
+                <Reference>P01889</Reference>
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+              <ExternalReference id="135297">
+                <Source>Reactome</Source>
+                <Reference>P30486</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25672763[PMID]</SourceOfValidation>
+          <Gene id="21608">
+            <Name lang="en">IKAROS family zinc finger 1</Name>
+            <Symbol>IKZF1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Hs.54452</Synonym>
+              <Synonym lang="en">IKAROS</Synonym>
+              <Synonym lang="en">LyF-1</Synonym>
+              <Synonym lang="en">PPP1R92</Synonym>
+              <Synonym lang="en">hIk-1</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 92</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="75189">
+                <Source>SwissProt</Source>
+                <Reference>Q13422</Reference>
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+              <ExternalReference id="83581">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185811</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IKZF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13176</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13422</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>36355</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=36355</ExpertLink>
+      <Name lang="en">Bleeding disorder due to P2Y12 defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11196645[PMID]_12578987[PMID]</SourceOfValidation>
+          <Gene id="16601">
+            <Name lang="en">purinergic receptor P2Y12</Name>
+            <Symbol>P2RY12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HORK3</Synonym>
+              <Synonym lang="en">P2Y12</Synonym>
+              <Synonym lang="en">SP1999</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169313</Reference>
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+              <ExternalReference id="32069">
+                <Source>Genatlas</Source>
+                <Reference>P2RY12</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18124</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>328</Reference>
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+              <ExternalReference id="32066">
+                <Source>OMIM</Source>
+                <Reference>600515</Reference>
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+              <ExternalReference id="59040">
+                <Source>Reactome</Source>
+                <Reference>Q9H244</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H244</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Distal monosomy 1q</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179456</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ZBTB18</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13030</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608433</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">COL4A1-related familial vascular leukoencephalopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>2202</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Genatlas</Source>
+                <Reference>GLUD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29923">
+                <Source>HGNC</Source>
+                <Reference>4335</Reference>
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+              <ExternalReference id="29922">
+                <Source>OMIM</Source>
+                <Reference>138130</Reference>
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+              <ExternalReference id="59033">
+                <Source>Reactome</Source>
+                <Reference>P00367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33161">
+                <Source>SwissProt</Source>
+                <Reference>P00367</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10402">
+      <OrphaCode>35858</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35858</ExpertLink>
+      <Name lang="en">Imerslund-Gräsbeck syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21750092[PMID]_26040326[PMID]</SourceOfValidation>
+          <Gene id="16814">
+            <Name lang="en">amnion associated transmembrane protein</Name>
+            <Symbol>AMN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">amnionless</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59026">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166126</Reference>
+              </ExternalReference>
+              <ExternalReference id="35071">
+                <Source>Genatlas</Source>
+                <Reference>AMN</Reference>
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+              <ExternalReference id="35074">
+                <Source>HGNC</Source>
+                <Reference>14604</Reference>
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+              <ExternalReference id="35073">
+                <Source>OMIM</Source>
+                <Reference>605799</Reference>
+              </ExternalReference>
+              <ExternalReference id="59027">
+                <Source>Reactome</Source>
+                <Reference>Q9BXJ7</Reference>
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+              <ExternalReference id="35072">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXJ7</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10080186[PMID]</SourceOfValidation>
+          <Gene id="15824">
+            <Name lang="en">cubilin</Name>
+            <Symbol>CUBN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IFCR</Synonym>
+              <Synonym lang="en">gp280</Synonym>
+              <Synonym lang="en">intrinsic factor-cobalamin receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107611</Reference>
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+              <ExternalReference id="37417">
+                <Source>Genatlas</Source>
+                <Reference>CUBN</Reference>
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+              <ExternalReference id="28363">
+                <Source>HGNC</Source>
+                <Reference>2548</Reference>
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+              <ExternalReference id="28362">
+                <Source>OMIM</Source>
+                <Reference>602997</Reference>
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+              <ExternalReference id="59029">
+                <Source>Reactome</Source>
+                <Reference>O60494</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60494</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="10405">
+      <OrphaCode>35909</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35909</ExpertLink>
+      <Name lang="en">Combined deficiency of factor V and factor VIII</Name>
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+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>12717434[PMID]_16304051[PMID]</SourceOfValidation>
+          <Gene id="16385">
+            <Name lang="en">multiple coagulation factor deficiency 2, ER cargo receptor complex subunit</Name>
+            <Symbol>MCFD2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">F5F8D</Synonym>
+              <Synonym lang="en">LMAN1IP</Synonym>
+              <Synonym lang="en">SDNSF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59036">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180398</Reference>
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+              <ExternalReference id="31062">
+                <Source>Genatlas</Source>
+                <Reference>MCFD2</Reference>
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+              <ExternalReference id="31060">
+                <Source>HGNC</Source>
+                <Reference>18451</Reference>
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+              <ExternalReference id="31059">
+                <Source>OMIM</Source>
+                <Reference>607788</Reference>
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+              <ExternalReference id="59037">
+                <Source>Reactome</Source>
+                <Reference>Q8NI22</Reference>
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+              <ExternalReference id="33449">
+                <Source>SwissProt</Source>
+                <Reference>Q8NI22</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9546392[PMID]_16304051[PMID]</SourceOfValidation>
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+            <Name lang="en">lectin, mannose binding 1</Name>
+            <Symbol>LMAN1</Symbol>
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+              <Synonym lang="en">ERGIC53</Synonym>
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+              <Synonym lang="en">MCFD1</Synonym>
+              <Synonym lang="en">MR60</Synonym>
+              <Synonym lang="en">endoplasmic reticulum-golgi intermediate compartment protein 53</Synonym>
+              <Synonym lang="en">gp58</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59035">
+                <Source>Reactome</Source>
+                <Reference>P49257</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49257</Reference>
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+              <ExternalReference id="59034">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074695</Reference>
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+              <ExternalReference id="37511">
+                <Source>Genatlas</Source>
+                <Reference>LMAN1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33572</ExpertLink>
+      <Name lang="en">5-oxoprolinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21651516[PMID]_27477828[PMID]</SourceOfValidation>
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+            <Name lang="en">5-oxoprolinase, ATP-hydrolysing</Name>
+            <Symbol>OPLAH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">5-Opase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178814</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>614243</Reference>
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+              <ExternalReference id="83332">
+                <Source>Reactome</Source>
+                <Reference>O14841</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Kleine-Levin syndrome</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O15050</Reference>
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+      <Name lang="en">Neuroectodermal melanolysosomal disease</Name>
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+              <Synonym lang="en">myosin heavy chain 12</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197535</Reference>
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+              <Synonym lang="en">endothelial cell LPL transporter</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277494</Reference>
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+      <Name lang="en">Pediatric hepatocellular carcinoma</Name>
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+            <Symbol>MET</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>MET</Reference>
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+                <Reference>164860</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P08581</Reference>
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+            <Symbol>CTNNB1</Symbol>
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+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
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+                <Reference>ENSG00000168036</Reference>
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+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
+              </ExternalReference>
+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
+              </ExternalReference>
+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24375">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10333">
+      <OrphaCode>34217</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=34217</ExpertLink>
+      <Name lang="en">Naxos disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301310[PMID]</SourceOfValidation>
+          <Gene id="16283">
+            <Name lang="en">junction plakoglobin</Name>
+            <Symbol>JUP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">DPIII</Synonym>
+              <Synonym lang="en">PDGB</Synonym>
+              <Synonym lang="en">PG</Synonym>
+              <Synonym lang="en">PKGB</Synonym>
+              <Synonym lang="en">desmosomal protein 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30580">
+                <Source>HGNC</Source>
+                <Reference>6207</Reference>
+              </ExternalReference>
+              <ExternalReference id="30579">
+                <Source>OMIM</Source>
+                <Reference>173325</Reference>
+              </ExternalReference>
+              <ExternalReference id="58983">
+                <Source>Reactome</Source>
+                <Reference>P14923</Reference>
+              </ExternalReference>
+              <ExternalReference id="33348">
+                <Source>SwissProt</Source>
+                <Reference>P14923</Reference>
+              </ExternalReference>
+              <ExternalReference id="58982">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173801</Reference>
+              </ExternalReference>
+              <ExternalReference id="30578">
+                <Source>Genatlas</Source>
+                <Reference>JUP</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23633">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10331">
+      <OrphaCode>34145</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=34145</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Berger disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24452035[PMID]</SourceOfValidation>
+          <Gene id="15070">
+            <Name lang="en">angiotensin I converting enzyme</Name>
+            <Symbol>ACE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ACE1</Synonym>
+              <Synonym lang="en">CD143</Synonym>
+              <Synonym lang="en">peptidyl-dipeptidase A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="24757">
+                <Source>Genatlas</Source>
+                <Reference>ACE</Reference>
+              </ExternalReference>
+              <ExternalReference id="24759">
+                <Source>HGNC</Source>
+                <Reference>2707</Reference>
+              </ExternalReference>
+              <ExternalReference id="82731">
+                <Source>IUPHAR</Source>
+                <Reference>1613</Reference>
+              </ExternalReference>
+              <ExternalReference id="24758">
+                <Source>OMIM</Source>
+                <Reference>106180</Reference>
+              </ExternalReference>
+              <ExternalReference id="82730">
+                <Source>Reactome</Source>
+                <Reference>P12821</Reference>
+              </ExternalReference>
+              <ExternalReference id="32347">
+                <Source>SwissProt</Source>
+                <Reference>P12821</Reference>
+              </ExternalReference>
+              <ExternalReference id="59788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159640</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6715">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10329">
+      <OrphaCode>33574</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33574</ExpertLink>
+      <Name lang="en">Glutamate-cysteine ligase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10515893[PMID]_18024385[PMID]</SourceOfValidation>
+          <Gene id="16111">
+            <Name lang="en">glutamate-cysteine ligase catalytic subunit</Name>
+            <Symbol>GCLC</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GCS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58976">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000001084</Reference>
+              </ExternalReference>
+              <ExternalReference id="29762">
+                <Source>Genatlas</Source>
+                <Reference>GCLC</Reference>
+              </ExternalReference>
+              <ExternalReference id="29760">
+                <Source>HGNC</Source>
+                <Reference>4311</Reference>
+              </ExternalReference>
+              <ExternalReference id="29759">
+                <Source>OMIM</Source>
+                <Reference>606857</Reference>
+              </ExternalReference>
+              <ExternalReference id="58977">
+                <Source>Reactome</Source>
+                <Reference>P48506</Reference>
+              </ExternalReference>
+              <ExternalReference id="33126">
+                <Source>SwissProt</Source>
+                <Reference>P48506</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26117">
+                <GeneLocus>6p12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="10328">
+      <OrphaCode>33573</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33573</ExpertLink>
+      <Name lang="en">Gamma-glutamyl transpeptidase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>29483667[PMID]</SourceOfValidation>
+          <Gene id="26453">
+            <Name lang="en">gamma-glutamyltransferase 1</Name>
+            <Symbol>GGT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD224</Synonym>
+              <Synonym lang="en">D22S672</Synonym>
+              <Synonym lang="en">D22S732</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
+                <Reference>4250</Reference>
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+              <ExternalReference id="154929">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100031</Reference>
+              </ExternalReference>
+              <ExternalReference id="154930">
+                <Source>SwissProt</Source>
+                <Reference>P19440</Reference>
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+              <ExternalReference id="154931">
+                <Source>OMIM</Source>
+                <Reference>612346</Reference>
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+              <ExternalReference id="154932">
+                <Source>Genatlas</Source>
+                <Reference>GGT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="154933">
+                <Source>Reactome</Source>
+                <Reference>P19440</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>22q11.23</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33110</ExpertLink>
+      <Name lang="en">Autosomal agammaglobulinemia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>8890099[PMID]</SourceOfValidation>
+          <Gene id="16247">
+            <Name lang="en">immunoglobulin heavy constant mu</Name>
+            <Symbol>IGHM</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58966">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000211899</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>IGHM</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5541</Reference>
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+                <Source>OMIM</Source>
+                <Reference>147020</Reference>
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+              <ExternalReference id="58967">
+                <Source>Reactome</Source>
+                <Reference>P01871</Reference>
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+                <Reference>P01871</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>9419212[PMID]</SourceOfValidation>
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+            <Name lang="en">immunoglobulin lambda like polypeptide 1</Name>
+            <Symbol>IGLL1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">IGL5</Synonym>
+              <Synonym lang="en">IGVPB</Synonym>
+              <Synonym lang="en">lambda 5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128322</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5870</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P15814</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">leucine rich repeat containing 8 VRAC subunit A</Name>
+            <Symbol>LRRC8A</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">KIAA1437</Synonym>
+              <Synonym lang="en">SWELL1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8IWT6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136802</Reference>
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+                <Reference>Q8IWT6</Reference>
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+              <Synonym lang="en">E2A immunoglobulin enhancer-binding factor E12/E47</Synonym>
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+              <Synonym lang="en">MGC129647</Synonym>
+              <Synonym lang="en">MGC129648</Synonym>
+              <Synonym lang="en">VDIR</Synonym>
+              <Synonym lang="en">VDR interacting repressor</Synonym>
+              <Synonym lang="en">bHLHb21</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 1</Synonym>
+              <Synonym lang="en">kappa-E2-binding factor</Synonym>
+              <Synonym lang="en">p75</Synonym>
+              <Synonym lang="en">transcription factor E2-alpha</Synonym>
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+                <Source>Reactome</Source>
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+            <Symbol>CD79A</Symbol>
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+              <Synonym lang="en">MB-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000105369</Reference>
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+                <Reference>1698</Reference>
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+                <Source>Reactome</Source>
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+          <Gene id="19255">
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+            <Symbol>CD79B</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007312</Reference>
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+                <Reference>CD79B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1699</Reference>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="46989">
+                <Source>SwissProt</Source>
+                <Reference>P40259</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60367">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10583958[PMID]</SourceOfValidation>
+          <Gene id="19256">
+            <Name lang="en">B cell linker</Name>
+            <Symbol>BLNK</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">B cell adaptor containing SH2 domain</Synonym>
+              <Synonym lang="en">B-cell activation</Synonym>
+              <Synonym lang="en">B-cell adapter containing a SH2 domain protein</Synonym>
+              <Synonym lang="en">BASH</Synonym>
+              <Synonym lang="en">BLNK-s</Synonym>
+              <Synonym lang="en">Ly57</Synonym>
+              <Synonym lang="en">SLP-65</Synonym>
+              <Synonym lang="en">SLP65</Synonym>
+              <Synonym lang="en">Src homology [SH2] domain-containing leukocyte protein of 65 kD</Synonym>
+              <Synonym lang="en">bca</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58960">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095585</Reference>
+              </ExternalReference>
+              <ExternalReference id="46992">
+                <Source>Genatlas</Source>
+                <Reference>BLNK</Reference>
+              </ExternalReference>
+              <ExternalReference id="46993">
+                <Source>HGNC</Source>
+                <Reference>14211</Reference>
+              </ExternalReference>
+              <ExternalReference id="46995">
+                <Source>OMIM</Source>
+                <Reference>604515</Reference>
+              </ExternalReference>
+              <ExternalReference id="58961">
+                <Source>Reactome</Source>
+                <Reference>Q8WV28</Reference>
+              </ExternalReference>
+              <ExternalReference id="46994">
+                <Source>SwissProt</Source>
+                <Reference>Q8WV28</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22485">
+                <GeneLocus>10q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22351933[PMID]</SourceOfValidation>
+          <Gene id="22044">
+            <Name lang="en">phosphoinositide-3-kinase regulatory subunit 1</Name>
+            <Symbol>PIK3R1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GRB1</Synonym>
+              <Synonym lang="en">p85</Synonym>
+              <Synonym lang="en">p85-ALPHA</Synonym>
+              <Synonym lang="en">phosphoinositide-3-kinase regulatory subunit alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190528">
+                <Source>IUPHAR</Source>
+                <Reference>2503</Reference>
+              </ExternalReference>
+              <ExternalReference id="83804">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145675</Reference>
+              </ExternalReference>
+              <ExternalReference id="79139">
+                <Source>Genatlas</Source>
+                <Reference>PIK3R1</Reference>
+              </ExternalReference>
+              <ExternalReference id="79137">
+                <Source>HGNC</Source>
+                <Reference>8979</Reference>
+              </ExternalReference>
+              <ExternalReference id="79138">
+                <Source>OMIM</Source>
+                <Reference>171833</Reference>
+              </ExternalReference>
+              <ExternalReference id="83803">
+                <Source>Reactome</Source>
+                <Reference>P27986</Reference>
+              </ExternalReference>
+              <ExternalReference id="79140">
+                <Source>SwissProt</Source>
+                <Reference>P27986</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60465">
+                <GeneLocus>5q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10308">
+      <OrphaCode>33108</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33108</ExpertLink>
+      <Name lang="en">Lethal multiple pterygium syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28336317[PMID]</SourceOfValidation>
+          <Gene id="16535">
+            <Name lang="en">nebulin</Name>
+            <Symbol>NEB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEB177D</Synonym>
+              <Synonym lang="en">nemaline myopathy type 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31752">
+                <Source>OMIM</Source>
+                <Reference>161650</Reference>
+              </ExternalReference>
+              <ExternalReference id="60227">
+                <Source>Reactome</Source>
+                <Reference>P20929</Reference>
+              </ExternalReference>
+              <ExternalReference id="33600">
+                <Source>SwissProt</Source>
+                <Reference>P20929</Reference>
+              </ExternalReference>
+              <ExternalReference id="60226">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183091</Reference>
+              </ExternalReference>
+              <ExternalReference id="31755">
+                <Source>Genatlas</Source>
+                <Reference>NEB</Reference>
+              </ExternalReference>
+              <ExternalReference id="31753">
+                <Source>HGNC</Source>
+                <Reference>7720</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20581">
+                <GeneLocus>2q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15187">
+            <Name lang="en">receptor associated protein of the synapse</Name>
+            <Symbol>RAPSN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMS1D</Synonym>
+              <Synonym lang="en">CMS1E</Synonym>
+              <Synonym lang="en">RNF205</Synonym>
+              <Synonym lang="en">rapsyn</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="25325">
+                <Source>HGNC</Source>
+                <Reference>9863</Reference>
+              </ExternalReference>
+              <ExternalReference id="25324">
+                <Source>OMIM</Source>
+                <Reference>601592</Reference>
+              </ExternalReference>
+              <ExternalReference id="33711">
+                <Source>SwissProt</Source>
+                <Reference>Q13702</Reference>
+              </ExternalReference>
+              <ExternalReference id="58006">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165917</Reference>
+              </ExternalReference>
+              <ExternalReference id="25323">
+                <Source>Genatlas</Source>
+                <Reference>RAPSN</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6941">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26932181[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
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+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15855">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18252226[PMID]</SourceOfValidation>
+          <Gene id="15447">
+            <Name lang="en">cholinergic receptor nicotinic alpha 1 subunit</Name>
+            <Symbol>CHRNA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 1 (muscle)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138435</Reference>
+              </ExternalReference>
+              <ExternalReference id="26564">
+                <Source>Genatlas</Source>
+                <Reference>CHRNA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26562">
+                <Source>HGNC</Source>
+                <Reference>1955</Reference>
+              </ExternalReference>
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+                <Source>IUPHAR</Source>
+                <Reference>462</Reference>
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+              <ExternalReference id="26561">
+                <Source>OMIM</Source>
+                <Reference>100690</Reference>
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+              <ExternalReference id="58953">
+                <Source>Reactome</Source>
+                <Reference>P02708</Reference>
+              </ExternalReference>
+              <ExternalReference id="32416">
+                <Source>SwissProt</Source>
+                <Reference>P02708</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              <Locus id="7425">
+                <GeneLocus>2q31.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18252226[PMID]</SourceOfValidation>
+          <Gene id="15450">
+            <Name lang="en">cholinergic receptor nicotinic delta subunit</Name>
+            <Symbol>CHRND</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, delta (muscle)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58955">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135902</Reference>
+              </ExternalReference>
+              <ExternalReference id="36768">
+                <Source>Genatlas</Source>
+                <Reference>CHRND</Reference>
+              </ExternalReference>
+              <ExternalReference id="26577">
+                <Source>HGNC</Source>
+                <Reference>1965</Reference>
+              </ExternalReference>
+              <ExternalReference id="82813">
+                <Source>IUPHAR</Source>
+                <Reference>476</Reference>
+              </ExternalReference>
+              <ExternalReference id="26576">
+                <Source>OMIM</Source>
+                <Reference>100720</Reference>
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+              <ExternalReference id="58956">
+                <Source>Reactome</Source>
+                <Reference>Q07001</Reference>
+              </ExternalReference>
+              <ExternalReference id="32419">
+                <Source>SwissProt</Source>
+                <Reference>Q07001</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2q37.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16826531[PMID]</SourceOfValidation>
+          <Gene id="15452">
+            <Name lang="en">cholinergic receptor nicotinic gamma subunit</Name>
+            <Symbol>CHRNG</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, gamma (muscle)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58958">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196811</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>CHRNG</Reference>
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+              <ExternalReference id="26587">
+                <Source>HGNC</Source>
+                <Reference>1967</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>475</Reference>
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+                <Source>OMIM</Source>
+                <Reference>100730</Reference>
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+              <ExternalReference id="58959">
+                <Source>Reactome</Source>
+                <Reference>P07510</Reference>
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+                <Reference>P07510</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Metaphyseal chondrodysplasia, Jansen type</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">parathyroid hormone 1 receptor</Name>
+            <Symbol>PTH1R</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160801</Reference>
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+                <Reference>PTH1R</Reference>
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+      <Name lang="en">Dravet syndrome</Name>
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+            <Symbol>SCN1A</Symbol>
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+                <Reference>ENSG00000144285</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000105711</Reference>
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+                <Reference>SCN1B</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10586</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600235</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q07699</Reference>
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+          <Gene id="15255">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 9</Name>
+            <Symbol>SCN9A</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">NE-NA</Synonym>
+              <Synonym lang="en">NENA</Synonym>
+              <Synonym lang="en">Nav1.7</Synonym>
+              <Synonym lang="en">PN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000169432</Reference>
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+              <ExternalReference id="25643">
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+                <Reference>SCN9A</Reference>
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+                <Reference>10597</Reference>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit alpha1</Name>
+            <Symbol>GABRA1</Symbol>
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+              <Synonym lang="en">GABA(A) receptor, alpha 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P14867</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000022355</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GABRA1</Reference>
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+                <Reference>4075</Reference>
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+                <Reference>404</Reference>
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+          </Gene>
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+          <SourceOfValidation>11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]</SourceOfValidation>
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+            <Name lang="en">gamma-aminobutyric acid type A receptor subunit gamma2</Name>
+            <Symbol>GABRG2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GABA(A) receptor, gamma 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
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+                <Reference>ENSG00000113327</Reference>
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+                <Source>Genatlas</Source>
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+            <Symbol>PCDH19</Symbol>
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+              <Synonym lang="en">KIAA1313</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165194</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PCDH19</Reference>
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+                <Reference>Q8TAB3</Reference>
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+            <Symbol>SCN2A</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">mesenchyme forkhead 1</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">MGC102762</Synonym>
+              <Synonym lang="en">MGC126218</Synonym>
+              <Synonym lang="en">MGC126219</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">TFIIH basal transcription factor complex helicase XPB subunit</Synonym>
+              <Synonym lang="en">excision repair cross-complementing rodent repair deficiency, complementation group 2 protein</Synonym>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12393803[PMID]</SourceOfValidation>
+          <Gene id="16173">
+            <Name lang="en">general transcription factor IIH subunit 5</Name>
+            <Symbol>GTF2H5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DNA repair syndrome trichothiodystrophy group A</Synonym>
+              <Synonym lang="en">FLJ30544</Synonym>
+              <Synonym lang="en">TFB5</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">TTD-A</Synonym>
+              <Synonym lang="en">TTDA</Synonym>
+              <Synonym lang="en">bA120J8.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82671">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000272047</Reference>
+              </ExternalReference>
+              <ExternalReference id="30063">
+                <Source>Genatlas</Source>
+                <Reference>GTF2H5</Reference>
+              </ExternalReference>
+              <ExternalReference id="30061">
+                <Source>HGNC</Source>
+                <Reference>21157</Reference>
+              </ExternalReference>
+              <ExternalReference id="30060">
+                <Source>OMIM</Source>
+                <Reference>608780</Reference>
+              </ExternalReference>
+              <ExternalReference id="97226">
+                <Source>Reactome</Source>
+                <Reference>Q6ZYL4</Reference>
+              </ExternalReference>
+              <ExternalReference id="33192">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZYL4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16699">
+                <GeneLocus>6q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12393803[PMID]</SourceOfValidation>
+          <Gene id="16665">
+            <Name lang="en">ERCC excision repair 3, TFIIH core complex helicase subunit</Name>
+            <Symbol>ERCC3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BTF2</Synonym>
+              <Synonym lang="en">GTF2H</Synonym>
+              <Synonym lang="en">RAD25</Synonym>
+              <Synonym lang="en">Ssl2</Synonym>
+              <Synonym lang="en">TFIIH</Synonym>
+              <Synonym lang="en">XPB</Synonym>
+              <Synonym lang="en">xeroderma pigmentosum group B complementing</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57881">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163161</Reference>
+              </ExternalReference>
+              <ExternalReference id="33982">
+                <Source>Genatlas</Source>
+                <Reference>ERCC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="33984">
+                <Source>HGNC</Source>
+                <Reference>3435</Reference>
+              </ExternalReference>
+              <ExternalReference id="33983">
+                <Source>OMIM</Source>
+                <Reference>133510</Reference>
+              </ExternalReference>
+              <ExternalReference id="57882">
+                <Source>Reactome</Source>
+                <Reference>P19447</Reference>
+              </ExternalReference>
+              <ExternalReference id="33985">
+                <Source>SwissProt</Source>
+                <Reference>P19447</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22745">
+                <GeneLocus>2q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25612912[PMID]</SourceOfValidation>
+          <Gene id="23225">
+            <Name lang="en">ring finger protein 113A</Name>
+            <Symbol>RNF113A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Cwc24</Synonym>
+              <Synonym lang="en">RNF113</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95647">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125352</Reference>
+              </ExternalReference>
+              <ExternalReference id="95645">
+                <Source>Genatlas</Source>
+                <Reference>RNF113A</Reference>
+              </ExternalReference>
+              <ExternalReference id="95643">
+                <Source>HGNC</Source>
+                <Reference>12974</Reference>
+              </ExternalReference>
+              <ExternalReference id="95644">
+                <Source>OMIM</Source>
+                <Reference>300951</Reference>
+              </ExternalReference>
+              <ExternalReference id="95646">
+                <Source>SwissProt</Source>
+                <Reference>O15541</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15201">
+                <GeneLocus>Xq24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26996949[PMID]</SourceOfValidation>
+          <Gene id="23765">
+            <Name lang="en">general transcription factor IIE subunit 2</Name>
+            <Symbol>GTF2E2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FE</Synonym>
+              <Synonym lang="en">TF2E2</Synonym>
+              <Synonym lang="en">TFIIE beta subunit</Synonym>
+              <Synonym lang="en">TFIIE-B</Synonym>
+              <Synonym lang="en">Transcription initiation factor IIE subunit beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="101261">
+                <Source>HGNC</Source>
+                <Reference>4651</Reference>
+              </ExternalReference>
+              <ExternalReference id="101262">
+                <Source>OMIM</Source>
+                <Reference>189964</Reference>
+              </ExternalReference>
+              <ExternalReference id="101263">
+                <Source>Genatlas</Source>
+                <Reference>GTF2E2</Reference>
+              </ExternalReference>
+              <ExternalReference id="101264">
+                <Source>SwissProt</Source>
+                <Reference>P29084</Reference>
+              </ExternalReference>
+              <ExternalReference id="101265">
+                <Source>Reactome</Source>
+                <Reference>P29084</Reference>
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+              <ExternalReference id="101266">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197265</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>8p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31374204[PMID]</SourceOfValidation>
+          <Gene id="28623">
+            <Name lang="en">threonyl-tRNA synthetase 1</Name>
+            <Symbol>TARS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">threonine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="178882">
+                <Source>HGNC</Source>
+                <Reference>11572</Reference>
+              </ExternalReference>
+              <ExternalReference id="178883">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113407</Reference>
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+              <ExternalReference id="178884">
+                <Source>SwissProt</Source>
+                <Reference>P26639</Reference>
+              </ExternalReference>
+              <ExternalReference id="178885">
+                <Source>Reactome</Source>
+                <Reference>P26639</Reference>
+              </ExternalReference>
+              <ExternalReference id="178886">
+                <Source>OMIM</Source>
+                <Reference>187790</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="53573">
+                <GeneLocus>5p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30824121[PMID]</SourceOfValidation>
+          <Gene id="22224">
+            <Name lang="en">cysteinyl-tRNA synthetase 1</Name>
+            <Symbol>CARS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">'cysteine tRNA ligase 1, cytoplasmic'</Synonym>
+              <Synonym lang="en">CARS1</Synonym>
+              <Synonym lang="en">Cysteine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83898">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110619</Reference>
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+              <ExternalReference id="80146">
+                <Source>Genatlas</Source>
+                <Reference>CARS</Reference>
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+              <ExternalReference id="80144">
+                <Source>HGNC</Source>
+                <Reference>1493</Reference>
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+              <ExternalReference id="80145">
+                <Source>OMIM</Source>
+                <Reference>123859</Reference>
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+              <ExternalReference id="83897">
+                <Source>Reactome</Source>
+                <Reference>P49589</Reference>
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+              <ExternalReference id="80147">
+                <Source>SwissProt</Source>
+                <Reference>P49589</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11p15.4</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=33271</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Non-alcoholic fatty liver disease</Name>
+      <DisorderType id="21422">
+        <Name lang="en">Clinical syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20335584[PMID]</SourceOfValidation>
+          <Gene id="17444">
+            <Name lang="en">apolipoprotein C3</Name>
+            <Symbol>APOC3</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110245</Reference>
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+              <ExternalReference id="38101">
+                <Source>Genatlas</Source>
+                <Reference>APOC3</Reference>
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+              <ExternalReference id="38103">
+                <Source>HGNC</Source>
+                <Reference>610</Reference>
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+              <ExternalReference id="46803">
+                <Source>OMIM</Source>
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+              <ExternalReference id="59422">
+                <Source>Reactome</Source>
+                <Reference>P02656</Reference>
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+              <ExternalReference id="38102">
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+                <Reference>P02656</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11q23.3</GeneLocus>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22719876[PMID]</SourceOfValidation>
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+            <Name lang="en">patatin like phospholipase domain containing 3</Name>
+            <Symbol>PNPLA3</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">FLJ22012</Synonym>
+              <Synonym lang="en">dJ796I17.1</Synonym>
+              <Synonym lang="en">iPLA2epsilon</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100344</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PNPLA3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18590</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83443">
+                <Source>Reactome</Source>
+                <Reference>Q9NST1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NST1</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+      <Name lang="en">Waldenström macroglobulinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23321251[PMID]_23532735[PMID]</SourceOfValidation>
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+            <Name lang="en">MYD88 innate immune signal transduction adaptor</Name>
+            <Symbol>MYD88</Symbol>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172936</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYD88</Reference>
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+                <Reference>7562</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">NON RARE IN EUROPE: Trimethylaminuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">flavin containing dimethylaniline monoxygenase 3</Name>
+            <Symbol>FMO3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Dimethylaniline monooxygenase [N-oxide-forming] 3</Synonym>
+              <Synonym lang="en">FMOII</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000007933</Reference>
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+                <Reference>3771</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P31513</Reference>
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+      <OrphaCode>35069</OrphaCode>
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+      <Name lang="en">Infantile neuroaxonal dystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15105">
+            <Name lang="en">phospholipase A2 group VI</Name>
+            <Symbol>PLA2G6</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">NBIA2</Synonym>
+              <Synonym lang="en">Neurodegeneration with brain iron accumulation 2</Synonym>
+              <Synonym lang="en">PARK14</Synonym>
+              <Synonym lang="en">PNPLA9</Synonym>
+              <Synonym lang="en">iPLA2</Synonym>
+              <Synonym lang="en">iPLA2beta</Synonym>
+              <Synonym lang="en">neurodegeneration with brain iron accumulation 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193558">
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+                <Reference>1431</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PLA2G6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9039</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603604</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60733</Reference>
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+                <Reference>O60733</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184381</Reference>
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+              <Locus id="66525">
+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10367">
+      <OrphaCode>35093</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35093</ExpertLink>
+      <Name lang="en">Non-syndromic sagittal craniosynostosis</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22829454[PMID]</SourceOfValidation>
+          <Gene id="15506">
+            <Name lang="en">ALX homeobox 4</Name>
+            <Symbol>ALX4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FPP</Synonym>
+              <Synonym lang="en">KIAA1788</Synonym>
+              <Synonym lang="en">PFM</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59112">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000052850</Reference>
+              </ExternalReference>
+              <ExternalReference id="26859">
+                <Source>Genatlas</Source>
+                <Reference>ALX4</Reference>
+              </ExternalReference>
+              <ExternalReference id="26857">
+                <Source>HGNC</Source>
+                <Reference>450</Reference>
+              </ExternalReference>
+              <ExternalReference id="26856">
+                <Source>OMIM</Source>
+                <Reference>605420</Reference>
+              </ExternalReference>
+              <ExternalReference id="32477">
+                <Source>SwissProt</Source>
+                <Reference>Q9H161</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7535">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23354439[PMID]</SourceOfValidation>
+          <Gene id="22034">
+            <Name lang="en">ETS2 repressor factor</Name>
+            <Symbol>ERF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PE-2</Synonym>
+              <Synonym lang="en">PE2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83787">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105722</Reference>
+              </ExternalReference>
+              <ExternalReference id="78750">
+                <Source>Genatlas</Source>
+                <Reference>ERF</Reference>
+              </ExternalReference>
+              <ExternalReference id="78748">
+                <Source>HGNC</Source>
+                <Reference>3444</Reference>
+              </ExternalReference>
+              <ExternalReference id="78749">
+                <Source>OMIM</Source>
+                <Reference>611888</Reference>
+              </ExternalReference>
+              <ExternalReference id="83786">
+                <Source>Reactome</Source>
+                <Reference>P50548</Reference>
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+              <ExternalReference id="78751">
+                <Source>SwissProt</Source>
+                <Reference>P50548</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24941">
+                <GeneLocus>19q13.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17343269[PMID]</SourceOfValidation>
+          <Gene id="15676">
+            <Name lang="en">twist family bHLH transcription factor 1</Name>
+            <Symbol>TWIST1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BPES2</Synonym>
+              <Synonym lang="en">CRS1</Synonym>
+              <Synonym lang="en">H-twist</Synonym>
+              <Synonym lang="en">SCS</Synonym>
+              <Synonym lang="en">Saethre-Chotzen syndrome</Synonym>
+              <Synonym lang="en">bHLHa38</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135049">
+                <Source>Reactome</Source>
+                <Reference>Q15672</Reference>
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+              <ExternalReference id="27669">
+                <Source>HGNC</Source>
+                <Reference>12428</Reference>
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+              <ExternalReference id="27668">
+                <Source>OMIM</Source>
+                <Reference>601622</Reference>
+              </ExternalReference>
+              <ExternalReference id="32648">
+                <Source>SwissProt</Source>
+                <Reference>Q15672</Reference>
+              </ExternalReference>
+              <ExternalReference id="57039">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122691</Reference>
+              </ExternalReference>
+              <ExternalReference id="27667">
+                <Source>Genatlas</Source>
+                <Reference>TWIST1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35929">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10366">
+      <OrphaCode>35078</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=35078</ExpertLink>
+      <Name lang="en">T-B+ severe combined immunodeficiency due to JAK3 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16280">
+            <Name lang="en">Janus kinase 3</Name>
+            <Symbol>JAK3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">JAK-3</Synonym>
+              <Synonym lang="en">JAK3_HUMAN</Synonym>
+              <Synonym lang="en">JAKL</Synonym>
+              <Synonym lang="en">L-JAK</Synonym>
+              <Synonym lang="en">LJAK</Synonym>
+              <Synonym lang="en">leukocyte Janus kinase</Synonym>
+              <Synonym lang="en">tyrosine-protein kinase JAK3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59002">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105639</Reference>
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+              <ExternalReference id="30566">
+                <Source>Genatlas</Source>
+                <Reference>JAK3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30564">
+                <Source>HGNC</Source>
+                <Reference>6193</Reference>
+              </ExternalReference>
+              <ExternalReference id="82963">
+                <Source>IUPHAR</Source>
+                <Reference>2049</Reference>
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+              <ExternalReference id="30563">
+                <Source>OMIM</Source>
+                <Reference>600173</Reference>
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+              <ExternalReference id="59003">
+                <Source>Reactome</Source>
+                <Reference>P52333</Reference>
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+              <ExternalReference id="33345">
+                <Source>SwissProt</Source>
+                <Reference>P52333</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10342">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=34520</ExpertLink>
+      <Name lang="en">Congenital muscular dystrophy with integrin alpha-7 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="17667">
+            <Name lang="en">integrin subunit alpha 7</Name>
+            <Symbol>ITGA7</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58984">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135424</Reference>
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+              <ExternalReference id="38822">
+                <Source>Genatlas</Source>
+                <Reference>ITGA7</Reference>
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+              <ExternalReference id="38823">
+                <Source>HGNC</Source>
+                <Reference>6143</Reference>
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+              <ExternalReference id="38824">
+                <Source>OMIM</Source>
+                <Reference>600536</Reference>
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+              <ExternalReference id="58985">
+                <Source>Reactome</Source>
+                <Reference>Q13683</Reference>
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+              <ExternalReference id="38825">
+                <Source>SwissProt</Source>
+                <Reference>Q13683</Reference>
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+              <ExternalReference id="190361">
+                <Source>IUPHAR</Source>
+                <Reference>2446</Reference>
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+                <GeneLocus>12q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10336">
+      <OrphaCode>34514</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=34514</ExpertLink>
+      <Name lang="en">Telethonin-related limb-girdle muscular dystrophy R7</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15590">
+            <Name lang="en">titin-cap</Name>
+            <Symbol>TCAP</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">19 kDa sarcomeric protein</Synonym>
+              <Synonym lang="en">CMD1N</Synonym>
+              <Synonym lang="en">T-cap</Synonym>
+              <Synonym lang="en">TELE</Synonym>
+              <Synonym lang="en">telethonin</Synonym>
+              <Synonym lang="en">teneurin C-terminal associated peptide</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57482">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173991</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11610</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>O15273</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15273</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">FKRP-related limb-girdle muscular dystrophy R9</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
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+            <Name lang="en">fukutin related protein</Name>
+            <Symbol>FKRP</Symbol>
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+              <Synonym lang="en">FKTR</Synonym>
+              <Synonym lang="en">LGMD2I</Synonym>
+              <Synonym lang="en">MDC1C</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33068">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9S5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181027</Reference>
+              </ExternalReference>
+              <ExternalReference id="29484">
+                <Source>Genatlas</Source>
+                <Reference>FKRP</Reference>
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+                <Reference>17997</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=34516</ExpertLink>
+      <Name lang="en">DNAJB6-related limb-girdle muscular dystrophy D1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="21069">
+            <Name lang="en">DnaJ heat shock protein family (Hsp40) member B6</Name>
+            <Symbol>DNAJB6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MRJ</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105993</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DNAJB6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14888</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611332</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75190</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75190</Reference>
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+                <GeneLocus>7q36.3</GeneLocus>
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+      <OrphaCode>34587</OrphaCode>
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+      <Name lang="en">Glycogen storage disease due to LAMP-2 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16337">
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+            <Symbol>LAMP2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD107b</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005893</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LAMP2</Reference>
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+                <Reference>6501</Reference>
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+                <Source>OMIM</Source>
+                <Reference>309060</Reference>
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+              <ExternalReference id="58993">
+                <Source>Reactome</Source>
+                <Reference>P13473</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13473</Reference>
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+    <Disorder id="10349">
+      <OrphaCode>34592</OrphaCode>
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+      <Name lang="en">Immunodeficiency by defective expression of MHC class I</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">transporter 2, ATP binding cassette subfamily B member</Name>
+            <Symbol>TAP2</Symbol>
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+              <Synonym lang="en">RING11</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>770</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">tapasin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000231925</Reference>
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+        <DisorderGeneAssociation>
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+      <Name lang="en">Autosomal dominant primary hypomagnesemia with hypocalciuria</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57691">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185245</Reference>
+              </ExternalReference>
+              <ExternalReference id="29986">
+                <Source>Genatlas</Source>
+                <Reference>GP1BA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29984">
+                <Source>HGNC</Source>
+                <Reference>4439</Reference>
+              </ExternalReference>
+              <ExternalReference id="29983">
+                <Source>OMIM</Source>
+                <Reference>606672</Reference>
+              </ExternalReference>
+              <ExternalReference id="57692">
+                <Source>Reactome</Source>
+                <Reference>P07359</Reference>
+              </ExternalReference>
+              <ExternalReference id="33176">
+                <Source>SwissProt</Source>
+                <Reference>P07359</Reference>
+              </ExternalReference>
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+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10697">
+      <OrphaCode>52429</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=52429</ExpertLink>
+      <Name lang="en">Branchiootic syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9359046[PMID]_23840632[PMID]</SourceOfValidation>
+          <Gene id="16006">
+            <Name lang="en">EYA transcriptional coactivator and phosphatase 1</Name>
+            <Symbol>EYA1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57044">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104313</Reference>
+              </ExternalReference>
+              <ExternalReference id="29237">
+                <Source>Genatlas</Source>
+                <Reference>EYA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29235">
+                <Source>HGNC</Source>
+                <Reference>3519</Reference>
+              </ExternalReference>
+              <ExternalReference id="29234">
+                <Source>OMIM</Source>
+                <Reference>601653</Reference>
+              </ExternalReference>
+              <ExternalReference id="97218">
+                <Source>Reactome</Source>
+                <Reference>Q99502</Reference>
+              </ExternalReference>
+              <ExternalReference id="33020">
+                <Source>SwissProt</Source>
+                <Reference>Q99502</Reference>
+              </ExternalReference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15141091[PMID]</SourceOfValidation>
+          <Gene id="15295">
+            <Name lang="en">SIX homeobox 1</Name>
+            <Symbol>SIX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>SIX1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>10887</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601205</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15475</Reference>
+              </ExternalReference>
+              <ExternalReference id="143960">
+                <Source>Reactome</Source>
+                <Reference>Q15475</Reference>
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+              <ExternalReference id="57045">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126778</Reference>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10699">
+      <OrphaCode>52503</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=52503</ExpertLink>
+      <Name lang="en">X-linked creatine transporter deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301745[PMID]</SourceOfValidation>
+          <Gene id="15519">
+            <Name lang="en">solute carrier family 6 member 8</Name>
+            <Symbol>SLC6A8</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CRTR</Synonym>
+              <Synonym lang="en">CT1</Synonym>
+              <Synonym lang="en">creatine transporter</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59122">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130821</Reference>
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+              <ExternalReference id="26920">
+                <Source>Genatlas</Source>
+                <Reference>SLC6A8</Reference>
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+              <ExternalReference id="193655">
+                <Source>IUPHAR</Source>
+                <Reference>934</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11055</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59123">
+                <Source>Reactome</Source>
+                <Reference>P48029</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48029</Reference>
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+      <Name lang="en">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">valosin containing protein</Name>
+            <Symbol>VCP</Symbol>
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+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56814">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165280</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601023</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P55072</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">heterogeneous nuclear ribonucleoprotein A2/B1</Name>
+            <Symbol>HNRNPA2B1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P22626</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23455423[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation/>
+          <Gene id="15195">
+            <Name lang="en">retinol dehydrogenase 5</Name>
+            <Symbol>RDH5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HSD17B9</Synonym>
+              <Synonym lang="en">SDR9C5</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 9C, member 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59121">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135437</Reference>
+              </ExternalReference>
+              <ExternalReference id="25360">
+                <Source>Genatlas</Source>
+                <Reference>RDH5</Reference>
+              </ExternalReference>
+              <ExternalReference id="25362">
+                <Source>HGNC</Source>
+                <Reference>9940</Reference>
+              </ExternalReference>
+              <ExternalReference id="25361">
+                <Source>OMIM</Source>
+                <Reference>601617</Reference>
+              </ExternalReference>
+              <ExternalReference id="82758">
+                <Source>Reactome</Source>
+                <Reference>Q92781</Reference>
+              </ExternalReference>
+              <ExternalReference id="33719">
+                <Source>SwissProt</Source>
+                <Reference>Q92781</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18529">
+                <GeneLocus>12q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8554077[PMID]</SourceOfValidation>
+          <Gene id="15211">
+            <Name lang="en">rhodopsin</Name>
+            <Symbol>RHO</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CSNBAD1</Synonym>
+              <Synonym lang="en">OPN2</Synonym>
+              <Synonym lang="en">opsin 2, rod pigment</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57575">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163914</Reference>
+              </ExternalReference>
+              <ExternalReference id="25435">
+                <Source>Genatlas</Source>
+                <Reference>RHO</Reference>
+              </ExternalReference>
+              <ExternalReference id="25433">
+                <Source>HGNC</Source>
+                <Reference>10012</Reference>
+              </ExternalReference>
+              <ExternalReference id="25432">
+                <Source>OMIM</Source>
+                <Reference>180380</Reference>
+              </ExternalReference>
+              <ExternalReference id="57576">
+                <Source>Reactome</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="33769">
+                <Source>SwissProt</Source>
+                <Reference>P08100</Reference>
+              </ExternalReference>
+              <ExternalReference id="193555">
+                <Source>IUPHAR</Source>
+                <Reference>2963</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66519">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10102299[PMID]_15234312[PMID]_15953459[PMID]</SourceOfValidation>
+          <Gene id="15213">
+            <Name lang="en">retinaldehyde binding protein 1</Name>
+            <Symbol>RLBP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRALBP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57568">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140522</Reference>
+              </ExternalReference>
+              <ExternalReference id="25445">
+                <Source>Genatlas</Source>
+                <Reference>RLBP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25443">
+                <Source>HGNC</Source>
+                <Reference>10024</Reference>
+              </ExternalReference>
+              <ExternalReference id="25442">
+                <Source>OMIM</Source>
+                <Reference>180090</Reference>
+              </ExternalReference>
+              <ExternalReference id="82761">
+                <Source>Reactome</Source>
+                <Reference>P12271</Reference>
+              </ExternalReference>
+              <ExternalReference id="33771">
+                <Source>SwissProt</Source>
+                <Reference>P12271</Reference>
+              </ExternalReference>
+              <ExternalReference id="193557">
+                <Source>IUPHAR</Source>
+                <Reference>2545</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66523">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10694">
+      <OrphaCode>52417</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=52417</ExpertLink>
+      <Name lang="en">MALT lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17392">
+            <Name lang="en">MALT1 paracaspase</Name>
+            <Symbol>MALT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MALT1 protease</Synonym>
+              <Synonym lang="en">PCASP1</Synonym>
+              <Synonym lang="en">paracaspase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59119">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172175</Reference>
+              </ExternalReference>
+              <ExternalReference id="37218">
+                <Source>Genatlas</Source>
+                <Reference>MALT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37219">
+                <Source>HGNC</Source>
+                <Reference>6819</Reference>
+              </ExternalReference>
+              <ExternalReference id="37220">
+                <Source>OMIM</Source>
+                <Reference>604860</Reference>
+              </ExternalReference>
+              <ExternalReference id="59120">
+                <Source>Reactome</Source>
+                <Reference>Q9UDY8</Reference>
+              </ExternalReference>
+              <ExternalReference id="37221">
+                <Source>SwissProt</Source>
+                <Reference>Q9UDY8</Reference>
+              </ExternalReference>
+              <ExternalReference id="190426">
+                <Source>IUPHAR</Source>
+                <Reference>2983</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60261">
+                <GeneLocus>18q21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18436">
+            <Name lang="en">baculoviral IAP repeat containing 3</Name>
+            <Symbol>BIRC3</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">MALT2</Synonym>
+              <Synonym lang="en">MIHC</Synonym>
+              <Synonym lang="en">RNF49</Synonym>
+              <Synonym lang="en">TNFR2-TRAF signaling complex protein</Synonym>
+              <Synonym lang="en">apoptosis inhibitor 2</Synonym>
+              <Synonym lang="en">c-IAP2</Synonym>
+              <Synonym lang="en">cIAP2</Synonym>
+              <Synonym lang="en">hiap-1</Synonym>
+              <Synonym lang="en">inhibitor of apoptosis protein 1</Synonym>
+              <Synonym lang="en">mammalian IAP homolog C</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190452">
+                <Source>IUPHAR</Source>
+                <Reference>2792</Reference>
+              </ExternalReference>
+              <ExternalReference id="42204">
+                <Source>SwissProt</Source>
+                <Reference>Q13489</Reference>
+              </ExternalReference>
+              <ExternalReference id="59116">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000023445</Reference>
+              </ExternalReference>
+              <ExternalReference id="42201">
+                <Source>Genatlas</Source>
+                <Reference>BIRC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="42202">
+                <Source>HGNC</Source>
+                <Reference>591</Reference>
+              </ExternalReference>
+              <ExternalReference id="42203">
+                <Source>OMIM</Source>
+                <Reference>601721</Reference>
+              </ExternalReference>
+              <ExternalReference id="59117">
+                <Source>Reactome</Source>
+                <Reference>Q13489</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60313">
+                <GeneLocus>11q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15703784[PMID]</SourceOfValidation>
+          <Gene id="18437">
+            <Name lang="en">immunoglobulin heavy locus</Name>
+            <Symbol>IGH</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190453">
+                <Source>OMIM</Source>
+                <Reference>146910</Reference>
+              </ExternalReference>
+              <ExternalReference id="190454">
+                <Source>OMIM</Source>
+                <Reference>147010</Reference>
+              </ExternalReference>
+              <ExternalReference id="190455">
+                <Source>OMIM</Source>
+                <Reference>147070</Reference>
+              </ExternalReference>
+              <ExternalReference id="42206">
+                <Source>Genatlas</Source>
+                <Reference>IGH@</Reference>
+              </ExternalReference>
+              <ExternalReference id="42207">
+                <Source>HGNC</Source>
+                <Reference>5477</Reference>
+              </ExternalReference>
+              <ExternalReference id="42208">
+                <Source>SwissProt</Source>
+                <Reference>Q6P089</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60319">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15703784[PMID]</SourceOfValidation>
+          <Gene id="18438">
+            <Name lang="en">forkhead box P1</Name>
+            <Symbol>FOXP1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">12CC4</Synonym>
+              <Synonym lang="en">HSPC215</Synonym>
+              <Synonym lang="en">PAX5/FOXP1 fusion protein</Synonym>
+              <Synonym lang="en">QRF1</Synonym>
+              <Synonym lang="en">fork head-related protein like B</Synonym>
+              <Synonym lang="en">glutamine-rich factor 1</Synonym>
+              <Synonym lang="en">hFKH1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143478">
+                <Source>Reactome</Source>
+                <Reference>Q9H334</Reference>
+              </ExternalReference>
+              <ExternalReference id="59118">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114861</Reference>
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+              <ExternalReference id="42210">
+                <Source>Genatlas</Source>
+                <Reference>FOXP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="42211">
+                <Source>HGNC</Source>
+                <Reference>3823</Reference>
+              </ExternalReference>
+              <ExternalReference id="42212">
+                <Source>OMIM</Source>
+                <Reference>605515</Reference>
+              </ExternalReference>
+              <ExternalReference id="42213">
+                <Source>SwissProt</Source>
+                <Reference>Q9H334</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38661">
+                <GeneLocus>3p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25922601[PMID]_10319863[PMID]</SourceOfValidation>
+          <Gene id="23652">
+            <Name lang="en">BCL10 immune signaling adaptor</Name>
+            <Symbol>BCL10</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">CARD containing molecule enhancing NF-kB</Synonym>
+              <Synonym lang="en">CARD-containing apoptotic signaling protein</Synonym>
+              <Synonym lang="en">CARD-containing proapoptotic protein</Synonym>
+              <Synonym lang="en">CARD-like apoptotic protein</Synonym>
+              <Synonym lang="en">CARMEN</Synonym>
+              <Synonym lang="en">CIPER</Synonym>
+              <Synonym lang="en">CLAP</Synonym>
+              <Synonym lang="en">c-E10</Synonym>
+              <Synonym lang="en">caspase-recruiting domain-containing protein</Synonym>
+              <Synonym lang="en">mE10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100084">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142867</Reference>
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+              <ExternalReference id="100081">
+                <Source>Genatlas</Source>
+                <Reference>BCL10</Reference>
+              </ExternalReference>
+              <ExternalReference id="100079">
+                <Source>HGNC</Source>
+                <Reference>989</Reference>
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+              <ExternalReference id="100080">
+                <Source>OMIM</Source>
+                <Reference>603517</Reference>
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+              <ExternalReference id="100083">
+                <Source>Reactome</Source>
+                <Reference>O95999</Reference>
+              </ExternalReference>
+              <ExternalReference id="100082">
+                <Source>SwissProt</Source>
+                <Reference>O95999</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="23805">
+                <GeneLocus>1p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="10688">
+      <OrphaCode>52055</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=52055</ExpertLink>
+      <Name lang="en">Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14556245[PMID]</SourceOfValidation>
+          <Gene id="16244">
+            <Name lang="en">immunoglobulin binding protein 1</Name>
+            <Symbol>IGBP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">a4</Synonym>
+              <Synonym lang="en">alpha 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143001">
+                <Source>Reactome</Source>
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+              <ExternalReference id="59113">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089289</Reference>
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+              <ExternalReference id="30398">
+                <Source>Genatlas</Source>
+                <Reference>IGBP1</Reference>
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+              <ExternalReference id="30396">
+                <Source>HGNC</Source>
+                <Reference>5461</Reference>
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+              <ExternalReference id="30395">
+                <Source>OMIM</Source>
+                <Reference>300139</Reference>
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+              <ExternalReference id="33308">
+                <Source>SwissProt</Source>
+                <Reference>P78318</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="10691">
+      <OrphaCode>52368</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=52368</ExpertLink>
+      <Name lang="en">Mohr-Tranebjaerg syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301395[PMID]_11956200[PMID]</SourceOfValidation>
+          <Gene id="15620">
+            <Name lang="en">translocase of inner mitochondrial membrane 8A</Name>
+            <Symbol>TIMM8A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DDP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58354">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126953</Reference>
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+              <ExternalReference id="27401">
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+                <Reference>TIMM8A</Reference>
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+              <ExternalReference id="27403">
+                <Source>HGNC</Source>
+                <Reference>11817</Reference>
+              </ExternalReference>
+              <ExternalReference id="27402">
+                <Source>OMIM</Source>
+                <Reference>300356</Reference>
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+              <ExternalReference id="58355">
+                <Source>Reactome</Source>
+                <Reference>O60220</Reference>
+              </ExternalReference>
+              <ExternalReference id="32592">
+                <Source>SwissProt</Source>
+                <Reference>O60220</Reference>
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+                <GeneLocus>Xq22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10716">
+      <OrphaCode>53271</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=53271</ExpertLink>
+      <Name lang="en">Muenke syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301588[PMID]_20301628[PMID]_21438135[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
+              </ExternalReference>
+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
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+              <ExternalReference id="82917">
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+                <Reference>1810</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
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+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
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+              <ExternalReference id="33062">
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+                <Reference>P22607</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=53347</ExpertLink>
+      <Name lang="en">Brody myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10914677[PMID]</SourceOfValidation>
+          <Gene id="15323">
+            <Name lang="en">ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1</Name>
+            <Symbol>ATP2A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SERCA1</Synonym>
+              <Synonym lang="en">calcium pump 1</Synonym>
+              <Synonym lang="en">sarcoplasmic/endoplasmic reticulum calcium ATPase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59127">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196296</Reference>
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+              <ExternalReference id="29034">
+                <Source>Genatlas</Source>
+                <Reference>ATP2A1</Reference>
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+              <ExternalReference id="25968">
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+                <Reference>811</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14983</Reference>
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+              <ExternalReference id="33880">
+                <Source>SwissProt</Source>
+                <Reference>O14983</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>840</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10715">
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+      <Name lang="en">Caroli disease</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24710345[PMID]_26385851[PMID]</SourceOfValidation>
+          <Gene id="15100">
+            <Name lang="en">PKHD1 ciliary IPT domain containing fibrocystin/polyductin</Name>
+            <Symbol>PKHD1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ARPKD</Synonym>
+              <Synonym lang="en">FCYT</Synonym>
+              <Synonym lang="en">FPC</Synonym>
+              <Synonym lang="en">fibrocystin</Synonym>
+              <Synonym lang="en">fibrocystin/polyductin complex</Synonym>
+              <Synonym lang="en">polyductin</Synonym>
+              <Synonym lang="en">tigmin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="24906">
+                <Source>OMIM</Source>
+                <Reference>606702</Reference>
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+              <ExternalReference id="76142">
+                <Source>SwissProt</Source>
+                <Reference>P08F94</Reference>
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+              <ExternalReference id="56766">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170927</Reference>
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+              <ExternalReference id="37316">
+                <Source>Genatlas</Source>
+                <Reference>PKHD1</Reference>
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+                <Reference>9016</Reference>
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+      <Name lang="en">Isolated follicle stimulating hormone deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>15705395[PMID]</SourceOfValidation>
+          <Gene id="16076">
+            <Name lang="en">follicle stimulating hormone subunit beta</Name>
+            <Symbol>FSHB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">follitropin, beta chain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131808</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FSHB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3964</Reference>
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+                <Reference>136530</Reference>
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+              <ExternalReference id="59126">
+                <Source>Reactome</Source>
+                <Reference>P01225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01225</Reference>
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+      <Name lang="en">Congenital lactase deficiency</Name>
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+            <Name lang="en">lactase</Name>
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+            <GeneType id="25993">
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+                <Reference>603202</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P09848</Reference>
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+      <Name lang="en">Congenital chloride diarrhea</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Reference>616</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y5X4</Reference>
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+    <Disorder id="10720">
+      <OrphaCode>53351</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=53351</ExpertLink>
+      <Name lang="en">X-linked dystonia-parkinsonism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16876">
+            <Name lang="en">TATA-box binding protein associated factor 1</Name>
+            <Symbol>TAF1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DYT3/TAF1</Synonym>
+              <Synonym lang="en">KAT4</Synonym>
+              <Synonym lang="en">NSCL2</Synonym>
+              <Synonym lang="en">TAFII250</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="35336">
+                <Source>Genatlas</Source>
+                <Reference>TAF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35339">
+                <Source>HGNC</Source>
+                <Reference>11535</Reference>
+              </ExternalReference>
+              <ExternalReference id="83054">
+                <Source>IUPHAR</Source>
+                <Reference>2231</Reference>
+              </ExternalReference>
+              <ExternalReference id="35338">
+                <Source>OMIM</Source>
+                <Reference>313650</Reference>
+              </ExternalReference>
+              <ExternalReference id="59130">
+                <Source>Reactome</Source>
+                <Reference>P21675</Reference>
+              </ExternalReference>
+              <ExternalReference id="35337">
+                <Source>SwissProt</Source>
+                <Reference>P21675</Reference>
+              </ExternalReference>
+              <ExternalReference id="59129">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147133</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9831">
+                <GeneLocus>Xq13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10750">
+      <OrphaCode>54260</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=54260</ExpertLink>
+      <Name lang="en">Left ventricular noncompaction</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="14">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26464484[PMID]</SourceOfValidation>
+          <Gene id="25491">
+            <Name lang="en">pleckstrin homology and RUN domain containing M2</Name>
+            <Symbol>PLEKHM2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0842</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="144628">
+                <Source>HGNC</Source>
+                <Reference>29131</Reference>
+              </ExternalReference>
+              <ExternalReference id="144629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116786</Reference>
+              </ExternalReference>
+              <ExternalReference id="144630">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWE5</Reference>
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+              <ExternalReference id="144631">
+                <Source>OMIM</Source>
+                <Reference>609613</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="40321">
+                <GeneLocus>1p36.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20083571[PMID]</SourceOfValidation>
+          <Gene id="15640">
+            <Name lang="en">troponin T2, cardiac type</Name>
+            <Symbol>TNNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMPD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118194</Reference>
+              </ExternalReference>
+              <ExternalReference id="27497">
+                <Source>Genatlas</Source>
+                <Reference>TNNT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27499">
+                <Source>HGNC</Source>
+                <Reference>11949</Reference>
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+              <ExternalReference id="27498">
+                <Source>OMIM</Source>
+                <Reference>191045</Reference>
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+              <ExternalReference id="57491">
+                <Source>Reactome</Source>
+                <Reference>P45379</Reference>
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+              <ExternalReference id="32612">
+                <Source>SwissProt</Source>
+                <Reference>P45379</Reference>
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+              <Locus id="26301">
+                <GeneLocus>1q32.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27030002[PMID]</SourceOfValidation>
+          <Gene id="15104">
+            <Name lang="en">plakophilin 2</Name>
+            <Symbol>PKP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60346">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000057294</Reference>
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+              <ExternalReference id="24924">
+                <Source>Genatlas</Source>
+                <Reference>PKP2</Reference>
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+              <ExternalReference id="24926">
+                <Source>HGNC</Source>
+                <Reference>9024</Reference>
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+              <ExternalReference id="24925">
+                <Source>OMIM</Source>
+                <Reference>602861</Reference>
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+              <ExternalReference id="32795">
+                <Source>SwissProt</Source>
+                <Reference>Q99959</Reference>
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+              <ExternalReference id="126311">
+                <Source>Reactome</Source>
+                <Reference>Q99959</Reference>
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+                <GeneLocus>12p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17611253_18506004[PMID]</SourceOfValidation>
+          <Gene id="15076">
+            <Name lang="en">actin alpha cardiac muscle 1</Name>
+            <Symbol>ACTC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1R</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57444">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159251</Reference>
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+              <ExternalReference id="24790">
+                <Source>Genatlas</Source>
+                <Reference>ACTC1</Reference>
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+              <ExternalReference id="24788">
+                <Source>HGNC</Source>
+                <Reference>143</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57445">
+                <Source>Reactome</Source>
+                <Reference>P68032</Reference>
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+              <ExternalReference id="32354">
+                <Source>SwissProt</Source>
+                <Reference>P68032</Reference>
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+                <GeneLocus>15q14</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21551322[PMID]</SourceOfValidation>
+          <Gene id="15647">
+            <Name lang="en">tropomyosin 1</Name>
+            <Symbol>TPM1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140416</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TPM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12010</Reference>
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+                <Source>OMIM</Source>
+                <Reference>191010</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P09493</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09493</Reference>
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+                <GeneLocus>15q22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11238270[PMID]</SourceOfValidation>
+          <Gene id="15898">
+            <Name lang="en">dystrobrevin alpha</Name>
+            <Symbol>DTNA</Symbol>
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+              <Synonym lang="en">D18S892E</Synonym>
+              <Synonym lang="en">DRP3</Synonym>
+              <Synonym lang="en">DTN</Synonym>
+              <Synonym lang="en">DTN-1</Synonym>
+              <Synonym lang="en">DTN-2</Synonym>
+              <Synonym lang="en">DTN-3</Synonym>
+              <Synonym lang="en">dystrophin-related protein 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59145">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134769</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DTNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3057</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601239</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y4J8</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y4J8</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21551322[PMID]</SourceOfValidation>
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+            <Name lang="en">myosin binding protein C3</Name>
+            <Symbol>MYBPC3</Symbol>
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+              <Synonym lang="en">FHC</Synonym>
+              <Synonym lang="en">MYBP-C</Synonym>
+              <Synonym lang="en">cMyBP-C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134571</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYBPC3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14896</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25415959[PMID]</SourceOfValidation>
+          <Gene id="16501">
+            <Name lang="en">myosin heavy chain 7</Name>
+            <Symbol>MYH7</Symbol>
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+              <Synonym lang="en">CMD1S</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P12883</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P12883</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092054</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16343">
+            <Name lang="en">LIM domain binding 3</Name>
+            <Symbol>LDB3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA0613</Synonym>
+              <Synonym lang="en">PDLIM6</Synonym>
+              <Synonym lang="en">Z-band alternatively spliced PDZ motif protein</Synonym>
+              <Synonym lang="en">ZASP</Synonym>
+              <Synonym lang="en">cypher</Synonym>
+              <Synonym lang="en">oracle</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122367</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15710</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">lamin A/C</Name>
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+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+          <SourceOfValidation>23314057[PMID]</SourceOfValidation>
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+            <Name lang="en">MIB E3 ubiquitin protein ligase 1</Name>
+            <Symbol>MIB1</Symbol>
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+              <Synonym lang="en">DIP-1</Synonym>
+              <Synonym lang="en">KIAA1323</Synonym>
+              <Synonym lang="en">MIB</Synonym>
+              <Synonym lang="en">ZZANK2</Synonym>
+              <Synonym lang="en">ZZZ6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101752</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MIB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21086</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608677</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q86YT6</Reference>
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+                <Reference>Q86YT6</Reference>
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+                <GeneLocus>18q11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768516[PMID]</SourceOfValidation>
+          <Gene id="22242">
+            <Name lang="en">PR/SET domain 16</Name>
+            <Symbol>PRDM16</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">KIAA1675</Synonym>
+              <Synonym lang="en">KMT8F</Synonym>
+              <Synonym lang="en">MDS1/EVI1-like</Synonym>
+              <Synonym lang="en">MEL1</Synonym>
+              <Synonym lang="en">MGC166915</Synonym>
+              <Synonym lang="en">PFM13</Synonym>
+              <Synonym lang="en">PR-domain zinc finger protein 16</Synonym>
+              <Synonym lang="en">Transcription factor MEL1</Synonym>
+              <Synonym lang="en">transcription factor MEL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83922">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142611</Reference>
+              </ExternalReference>
+              <ExternalReference id="80570">
+                <Source>Genatlas</Source>
+                <Reference>PRDM16</Reference>
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+              <ExternalReference id="80568">
+                <Source>HGNC</Source>
+                <Reference>14000</Reference>
+              </ExternalReference>
+              <ExternalReference id="80569">
+                <Source>OMIM</Source>
+                <Reference>605557</Reference>
+              </ExternalReference>
+              <ExternalReference id="97351">
+                <Source>Reactome</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+              <ExternalReference id="80571">
+                <Source>SwissProt</Source>
+                <Reference>Q9HAZ2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18721">
+                <GeneLocus>1p36.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23800289[PMID]</SourceOfValidation>
+          <Gene id="22250">
+            <Name lang="en">myosin heavy chain 7B</Name>
+            <Symbol>MYH7B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA1512</Synonym>
+              <Synonym lang="en">MHC14</Synonym>
+              <Synonym lang="en">MYH14</Synonym>
+              <Synonym lang="en">dJ756N5.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83936">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078814</Reference>
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+              <ExternalReference id="80652">
+                <Source>Genatlas</Source>
+                <Reference>MYH7B</Reference>
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+              <ExternalReference id="80650">
+                <Source>HGNC</Source>
+                <Reference>15906</Reference>
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+              <ExternalReference id="80651">
+                <Source>OMIM</Source>
+                <Reference>609928</Reference>
+              </ExternalReference>
+              <ExternalReference id="83935">
+                <Source>Reactome</Source>
+                <Reference>A7E2Y1</Reference>
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+              <ExternalReference id="80653">
+                <Source>SwissProt</Source>
+                <Reference>A7E2Y1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20693">
+                <GeneLocus>20q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28013292[PMID]</SourceOfValidation>
+          <Gene id="25445">
+            <Name lang="en">MIB E3 ubiquitin protein ligase 2</Name>
+            <Symbol>MIB2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ39787</Synonym>
+              <Synonym lang="en">ZZZ5</Synonym>
+              <Synonym lang="en">skeletrophin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144359">
+                <Source>HGNC</Source>
+                <Reference>30577</Reference>
+              </ExternalReference>
+              <ExternalReference id="144360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197530</Reference>
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+              <ExternalReference id="144361">
+                <Source>SwissProt</Source>
+                <Reference>Q96AX9</Reference>
+              </ExternalReference>
+              <ExternalReference id="144362">
+                <Source>OMIM</Source>
+                <Reference>611141</Reference>
+              </ExternalReference>
+              <ExternalReference id="144363">
+                <Source>Genatlas</Source>
+                <Reference>MIB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="144364">
+                <Source>Reactome</Source>
+                <Reference>Q96AX9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="27964">
+      <OrphaCode>538934</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=538934</ExpertLink>
+      <Name lang="en">X-linked lymphoproliferative disease due to XIAP deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301580[PMID]</SourceOfValidation>
+          <Gene id="16830">
+            <Name lang="en">X-linked inhibitor of apoptosis</Name>
+            <Symbol>XIAP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IAP-like protein 1</Synonym>
+              <Synonym lang="en">ILP-1</Synonym>
+              <Synonym lang="en">hILP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190407">
+                <Source>IUPHAR</Source>
+                <Reference>2790</Reference>
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+              <ExternalReference id="57093">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101966</Reference>
+              </ExternalReference>
+              <ExternalReference id="35154">
+                <Source>Genatlas</Source>
+                <Reference>XIAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35155">
+                <Source>HGNC</Source>
+                <Reference>592</Reference>
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+              <ExternalReference id="35153">
+                <Source>OMIM</Source>
+                <Reference>300079</Reference>
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+              <ExternalReference id="57094">
+                <Source>Reactome</Source>
+                <Reference>P98170</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P98170</Reference>
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+                <GeneLocus>Xq25</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="27963">
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+      <Name lang="en">X-linked lymphoproliferative disease due to SH2D1A deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301580[PMID]_28196537[PMID]</SourceOfValidation>
+          <Gene id="15286">
+            <Name lang="en">SH2 domain containing 1A</Name>
+            <Symbol>SH2D1A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DSHP</Synonym>
+              <Synonym lang="en">Duncan's disease</Synonym>
+              <Synonym lang="en">EBVS</Synonym>
+              <Synonym lang="en">MTCP1</Synonym>
+              <Synonym lang="en">SAP</Synonym>
+              <Synonym lang="en">XLP</Synonym>
+              <Synonym lang="en">XLPD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183918</Reference>
+              </ExternalReference>
+              <ExternalReference id="25791">
+                <Source>Genatlas</Source>
+                <Reference>SH2D1A</Reference>
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+              <ExternalReference id="25789">
+                <Source>HGNC</Source>
+                <Reference>10820</Reference>
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+              <ExternalReference id="25788">
+                <Source>OMIM</Source>
+                <Reference>300490</Reference>
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+              <ExternalReference id="97170">
+                <Source>Reactome</Source>
+                <Reference>O60880</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60880</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq25</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="10740">
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+      <Name lang="en">Myosin storage myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>15136674[PMID]_25666907[PMID]</SourceOfValidation>
+          <Gene id="16501">
+            <Name lang="en">myosin heavy chain 7</Name>
+            <Symbol>MYH7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CMD1S</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83007">
+                <Source>Reactome</Source>
+                <Reference>P12883</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P12883</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092054</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MYH7</Reference>
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+                <Reference>7577</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Arthrogryposis-anterior horn cell disease syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+            <Symbol>GLE1</Symbol>
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+              <Synonym lang="en">hGLE1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>GLE1</Reference>
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+                <Reference>4315</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q53GS7</Reference>
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+      <Name lang="en">Gnathodiaphyseal dysplasia</Name>
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+            <Name lang="en">anoctamin 5</Name>
+            <Symbol>ANO5</Symbol>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital cornea plana</Name>
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+            <Name lang="en">keratocan</Name>
+            <Symbol>KERA</Symbol>
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+      <Name lang="en">GRACILE syndrome</Name>
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+            <Name lang="en">BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone</Name>
+            <Symbol>BCS1L</Symbol>
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+              <Synonym lang="en">BJS</Synonym>
+              <Synonym lang="en">Bjornstad syndrome</Synonym>
+              <Synonym lang="en">GRACILE syndrome</Synonym>
+              <Synonym lang="en">Hs.6719</Synonym>
+              <Synonym lang="en">h-BCS</Synonym>
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+                <Reference>ENSG00000074582</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>BCS1L</Reference>
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+                <Reference>1020</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=48818</ExpertLink>
+      <Name lang="en">Aceruloplasminemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301666[PMID]</SourceOfValidation>
+          <Gene id="15791">
+            <Name lang="en">ceruloplasmin</Name>
+            <Symbol>CP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ferroxidase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000047457</Reference>
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+        <Name lang="en">Disorder</Name>
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+                <Reference>2046</Reference>
+              </ExternalReference>
+              <ExternalReference id="49548">
+                <Source>OMIM</Source>
+                <Reference>186973</Reference>
+              </ExternalReference>
+              <ExternalReference id="60422">
+                <Source>Reactome</Source>
+                <Reference>Q08881</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22789">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10630">
+      <OrphaCode>48652</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=48652</ExpertLink>
+      <Name lang="en">Monosomy 22q13.3</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21841781[PMID]</SourceOfValidation>
+          <Gene id="15289">
+            <Name lang="en">SH3 and multiple ankyrin repeat domains 3</Name>
+            <Symbol>SHANK3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">KIAA1650</Synonym>
+              <Synonym lang="en">PSAP2</Synonym>
+              <Synonym lang="en">SPANK-2</Synonym>
+              <Synonym lang="en">proline rich synapse associated protein 2</Synonym>
+              <Synonym lang="en">prosap2</Synonym>
+              <Synonym lang="en">shank postsynaptic density protein</Synonym>
+              <Synonym lang="en">shank3 postsynaptic density protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126317">
+                <Source>Reactome</Source>
+                <Reference>Q9BYB0</Reference>
+              </ExternalReference>
+              <ExternalReference id="57001">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000251322</Reference>
+              </ExternalReference>
+              <ExternalReference id="25803">
+                <Source>Genatlas</Source>
+                <Reference>SHANK3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25805">
+                <Source>HGNC</Source>
+                <Reference>14294</Reference>
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+              <ExternalReference id="25804">
+                <Source>OMIM</Source>
+                <Reference>606230</Reference>
+              </ExternalReference>
+              <ExternalReference id="33847">
+                <Source>SwissProt</Source>
+                <Reference>Q9BYB0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10653">
+      <OrphaCode>50814</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=50814</ExpertLink>
+      <Name lang="en">Craniolenticulosutural dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16980979[PMID]</SourceOfValidation>
+          <Gene id="15265">
+            <Name lang="en">SEC23 homolog A, COPII coat complex component</Name>
+            <Symbol>SEC23A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100934</Reference>
+              </ExternalReference>
+              <ExternalReference id="37339">
+                <Source>Genatlas</Source>
+                <Reference>SEC23A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25689">
+                <Source>HGNC</Source>
+                <Reference>10701</Reference>
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+              <ExternalReference id="25688">
+                <Source>OMIM</Source>
+                <Reference>610511</Reference>
+              </ExternalReference>
+              <ExternalReference id="59093">
+                <Source>Reactome</Source>
+                <Reference>Q15436</Reference>
+              </ExternalReference>
+              <ExternalReference id="33823">
+                <Source>SwissProt</Source>
+                <Reference>Q15436</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7091">
+                <GeneLocus>14q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10643">
+      <OrphaCode>49827</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=49827</ExpertLink>
+      <Name lang="en">Thiamine-responsive megaloblastic anemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15304">
+            <Name lang="en">solute carrier family 19 member 2</Name>
+            <Symbol>SLC19A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">THTR1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59089">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117479</Reference>
+              </ExternalReference>
+              <ExternalReference id="25881">
+                <Source>Genatlas</Source>
+                <Reference>SLC19A2</Reference>
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+              <ExternalReference id="25879">
+                <Source>HGNC</Source>
+                <Reference>10938</Reference>
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+              <ExternalReference id="25878">
+                <Source>OMIM</Source>
+                <Reference>603941</Reference>
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+              <ExternalReference id="59090">
+                <Source>Reactome</Source>
+                <Reference>O60779</Reference>
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+              <ExternalReference id="33862">
+                <Source>SwissProt</Source>
+                <Reference>O60779</Reference>
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+              <ExternalReference id="193521">
+                <Source>IUPHAR</Source>
+                <Reference>1015</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="10645">
+      <OrphaCode>50251</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=50251</ExpertLink>
+      <Name lang="en">Pleural mesothelioma</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27181379[PMID]</SourceOfValidation>
+          <Gene id="20738">
+            <Name lang="en">BRCA1 associated protein 1</Name>
+            <Symbol>BAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0272</Synonym>
+              <Synonym lang="en">UCHL2</Synonym>
+              <Synonym lang="en">hucep-6</Synonym>
+              <Synonym lang="en">ubiquitin carboxy-terminal hydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126405">
+                <Source>Reactome</Source>
+                <Reference>Q92560</Reference>
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+              <ExternalReference id="60620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163930</Reference>
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+              <ExternalReference id="55818">
+                <Source>Genatlas</Source>
+                <Reference>BAP1</Reference>
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+              <ExternalReference id="55816">
+                <Source>HGNC</Source>
+                <Reference>950</Reference>
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+              <ExternalReference id="83235">
+                <Source>IUPHAR</Source>
+                <Reference>2332</Reference>
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+              <ExternalReference id="55817">
+                <Source>OMIM</Source>
+                <Reference>603089</Reference>
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+              <ExternalReference id="55819">
+                <Source>SwissProt</Source>
+                <Reference>Q92560</Reference>
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+                <GeneLocus>3p21.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10665">
+      <OrphaCode>50945</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=50945</ExpertLink>
+      <Name lang="en">Blomstrand lethal chondrodysplasia</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9832466[PMID]_9745456[PMID]_9649554[PMID]</SourceOfValidation>
+          <Gene id="15169">
+            <Name lang="en">parathyroid hormone 1 receptor</Name>
+            <Symbol>PTH1R</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58028">
+                <Source>Reactome</Source>
+                <Reference>Q03431</Reference>
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+              <ExternalReference id="33693">
+                <Source>SwissProt</Source>
+                <Reference>Q03431</Reference>
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+              <ExternalReference id="58027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160801</Reference>
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+              <ExternalReference id="41682">
+                <Source>Genatlas</Source>
+                <Reference>PTH1R</Reference>
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+              <ExternalReference id="25238">
+                <Source>HGNC</Source>
+                <Reference>9608</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>331</Reference>
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+              <ExternalReference id="25237">
+                <Source>OMIM</Source>
+                <Reference>168468</Reference>
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+                <GeneLocus>3p21.31</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10664">
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+      <Name lang="en">Schöpf-Schulz-Passarge syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+            <Name lang="en">Wnt family member 10A</Name>
+            <Symbol>WNT10A</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="31254">
+                <Source>HGNC</Source>
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+              <ExternalReference id="31253">
+                <Source>OMIM</Source>
+                <Reference>606268</Reference>
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+              <ExternalReference id="58163">
+                <Source>Reactome</Source>
+                <Reference>Q9GZT5</Reference>
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+              <ExternalReference id="33489">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZT5</Reference>
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+              <ExternalReference id="58162">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135925</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>WNT10A</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10670">
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+      <Name lang="en">Familial short QT syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 4 member 3</Name>
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+            <SynonymList count="3">
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+              <Synonym lang="en">Anion exchanger 3, neuronal</Synonym>
+              <Synonym lang="en">SLC2C</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114923</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48751</Reference>
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+              <ExternalReference id="160475">
+                <Source>Reactome</Source>
+                <Reference>P48751</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>906</Reference>
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+                <Source>OMIM</Source>
+                <Reference>106195</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15761194[PMID]</SourceOfValidation>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 2</Name>
+            <Symbol>KCNJ2</Symbol>
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+              <Synonym lang="en">Kir2.1</Synonym>
+              <Synonym lang="en">LQT7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123700</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>430</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="16290">
+            <Name lang="en">potassium voltage-gated channel subfamily H member 2</Name>
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+            <SynonymList count="5">
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+              <Synonym lang="en">Kv11.1</Synonym>
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+              <Synonym lang="en">human ether-a-go-go-related gene</Synonym>
+              <Synonym lang="en">long QT syndrome type 2</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000055118</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>6251</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>572</Reference>
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+                <Source>OMIM</Source>
+                <Reference>152427</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q12809</Reference>
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+                <Source>SwissProt</Source>
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+          <SourceOfValidation>15159330[PMID]_26346102[PMID]</SourceOfValidation>
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+            <Name lang="en">potassium voltage-gated channel subfamily Q member 1</Name>
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+              <Synonym lang="en">JLNS1</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 1</Synonym>
+              <Synonym lang="en">KCNA8</Synonym>
+              <Synonym lang="en">KVLQT1</Synonym>
+              <Synonym lang="en">Kv7.1</Synonym>
+              <Synonym lang="en">LQT1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000053918</Reference>
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+              <ExternalReference id="30637">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30639">
+                <Source>HGNC</Source>
+                <Reference>6294</Reference>
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+              <ExternalReference id="82970">
+                <Source>IUPHAR</Source>
+                <Reference>560</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607542</Reference>
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+              <ExternalReference id="58839">
+                <Source>Reactome</Source>
+                <Reference>P51787</Reference>
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+              <ExternalReference id="33360">
+                <Source>SwissProt</Source>
+                <Reference>P51787</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21383000[PMID]</SourceOfValidation>
+          <Gene id="21102">
+            <Name lang="en">calcium voltage-gated channel auxiliary subunit alpha2delta 1</Name>
+            <Symbol>CACNA2D1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">lncRNA-N3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83373">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153956</Reference>
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+              <ExternalReference id="61969">
+                <Source>Genatlas</Source>
+                <Reference>CACNA2D1</Reference>
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+              <ExternalReference id="61967">
+                <Source>HGNC</Source>
+                <Reference>1399</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114204</Reference>
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+              <ExternalReference id="98098">
+                <Source>Reactome</Source>
+                <Reference>P54289</Reference>
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+              <ExternalReference id="61970">
+                <Source>SwissProt</Source>
+                <Reference>P54289</Reference>
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+                <GeneLocus>7q21.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10663">
+      <OrphaCode>50943</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=50943</ExpertLink>
+      <Name lang="en">Keratolytic winter erythema</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28457472[PMID]</SourceOfValidation>
+          <Gene id="25469">
+            <Name lang="en">cathepsin B</Name>
+            <Symbol>CTSB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="144505">
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+                <Reference>2527</Reference>
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+              <ExternalReference id="144506">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164733</Reference>
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+              <ExternalReference id="144507">
+                <Source>SwissProt</Source>
+                <Reference>P07858</Reference>
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+              <ExternalReference id="144508">
+                <Source>OMIM</Source>
+                <Reference>116810</Reference>
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+              <ExternalReference id="144509">
+                <Source>Genatlas</Source>
+                <Reference>CTSB</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P07858</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2343</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10662">
+      <OrphaCode>50942</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=50942</ExpertLink>
+      <Name lang="en">Striate palmoplantar keratoderma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9887343[PMID]</SourceOfValidation>
+          <Gene id="15895">
+            <Name lang="en">desmoplakin</Name>
+            <Symbol>DSP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DPI</Synonym>
+              <Synonym lang="en">DPII</Synonym>
+              <Synonym lang="en">KPPS2</Synonym>
+              <Synonym lang="en">PPKS2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000096696</Reference>
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+              <ExternalReference id="28695">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>3052</Reference>
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+                <Source>OMIM</Source>
+                <Reference>125647</Reference>
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+              <ExternalReference id="59099">
+                <Source>Reactome</Source>
+                <Reference>P15924</Reference>
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+              <ExternalReference id="32906">
+                <Source>SwissProt</Source>
+                <Reference>P15924</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11982762[PMID]</SourceOfValidation>
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+            <Name lang="en">keratin 1</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000167768</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6412</Reference>
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+                <Reference>139350</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04264</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P04264</Reference>
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+          <SourceOfValidation>10332028[PMID]_19157795[PMID]</SourceOfValidation>
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+            <Name lang="en">desmoglein 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000134760</Reference>
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+                <Reference>3048</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q02413</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=51188</ExpertLink>
+      <Name lang="en">Ethylmalonic encephalopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18593870[PMID]</SourceOfValidation>
+          <Gene id="15999">
+            <Name lang="en">ETHE1 persulfide dioxygenase</Name>
+            <Symbol>ETHE1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HSCO</Synonym>
+              <Synonym lang="en">YF13H12</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59103">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105755</Reference>
+              </ExternalReference>
+              <ExternalReference id="29205">
+                <Source>Genatlas</Source>
+                <Reference>ETHE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29203">
+                <Source>HGNC</Source>
+                <Reference>23287</Reference>
+              </ExternalReference>
+              <ExternalReference id="29202">
+                <Source>OMIM</Source>
+                <Reference>608451</Reference>
+              </ExternalReference>
+              <ExternalReference id="59104">
+                <Source>Reactome</Source>
+                <Reference>O95571</Reference>
+              </ExternalReference>
+              <ExternalReference id="33013">
+                <Source>SwissProt</Source>
+                <Reference>O95571</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22915">
+                <GeneLocus>19q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28017">
+      <OrphaCode>541423</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=541423</ExpertLink>
+      <Name lang="en">Growth delay-intellectual disability-hepatopathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27426735[PMID]_29052218[PMID]</SourceOfValidation>
+          <Gene id="25185">
+            <Name lang="en">isoleucyl-tRNA synthetase 1</Name>
+            <Symbol>IARS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">IARS1</Synonym>
+              <Synonym lang="en">ILRS</Synonym>
+              <Synonym lang="en">isoleucine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143261">
+                <Source>Genatlas</Source>
+                <Reference>IARS</Reference>
+              </ExternalReference>
+              <ExternalReference id="135497">
+                <Source>HGNC</Source>
+                <Reference>5330</Reference>
+              </ExternalReference>
+              <ExternalReference id="135545">
+                <Source>OMIM</Source>
+                <Reference>600709</Reference>
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+              <ExternalReference id="135546">
+                <Source>SwissProt</Source>
+                <Reference>P41252</Reference>
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+              <ExternalReference id="136247">
+                <Source>Reactome</Source>
+                <Reference>P41252</Reference>
+              </ExternalReference>
+              <ExternalReference id="135522">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196305</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="10673">
+      <OrphaCode>51208</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=51208</ExpertLink>
+      <Name lang="en">Formiminoglutamic aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12815595[PMID]</SourceOfValidation>
+          <Gene id="16079">
+            <Name lang="en">formimidoyltransferase cyclodeaminase</Name>
+            <Symbol>FTCD</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59105">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160282</Reference>
+              </ExternalReference>
+              <ExternalReference id="37466">
+                <Source>Genatlas</Source>
+                <Reference>FTCD</Reference>
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+              <ExternalReference id="29604">
+                <Source>HGNC</Source>
+                <Reference>3974</Reference>
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+              <ExternalReference id="29603">
+                <Source>OMIM</Source>
+                <Reference>606806</Reference>
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+              <ExternalReference id="59106">
+                <Source>Reactome</Source>
+                <Reference>O95954</Reference>
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+              <ExternalReference id="33094">
+                <Source>SwissProt</Source>
+                <Reference>O95954</Reference>
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+            <LocusList count="1">
+              <Locus id="8601">
+                <GeneLocus>21q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10676">
+      <OrphaCode>51636</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=51636</ExpertLink>
+      <Name lang="en">WHIM syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12692554[PMID]</SourceOfValidation>
+          <Gene id="15827">
+            <Name lang="en">C-X-C motif chemokine receptor 4</Name>
+            <Symbol>CXCR4</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CD184</Synonym>
+              <Synonym lang="en">D2S201E</Synonym>
+              <Synonym lang="en">HM89</Synonym>
+              <Synonym lang="en">HSY3RR</Synonym>
+              <Synonym lang="en">LESTR</Synonym>
+              <Synonym lang="en">NPY3R</Synonym>
+              <Synonym lang="en">NPYR</Synonym>
+              <Synonym lang="en">NPYY3R</Synonym>
+              <Synonym lang="en">fusin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121966</Reference>
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+              <ExternalReference id="28375">
+                <Source>Genatlas</Source>
+                <Reference>CXCR4</Reference>
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+              <ExternalReference id="28377">
+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>71</Reference>
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+                <Source>OMIM</Source>
+                <Reference>162643</Reference>
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+              <ExternalReference id="59111">
+                <Source>Reactome</Source>
+                <Reference>P61073</Reference>
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+              <ExternalReference id="32838">
+                <Source>SwissProt</Source>
+                <Reference>P61073</Reference>
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+                <GeneLocus>2q22.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+    <Disorder id="28037">
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+      <Name lang="en">GNB5-related intellectual disability-cardiac arrhythmia syndrome</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="28419">
+            <Name lang="en">G protein subunit beta 5</Name>
+            <Symbol>GNB5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GB5</Synonym>
+              <Synonym lang="en">Guanine nucleotide-binding protein subunit beta-5</Synonym>
+              <Synonym lang="en">Transducin beta chain 5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="171985">
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+                <Reference>4401</Reference>
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+              <ExternalReference id="171989">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000069966</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14775</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14775</Reference>
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+      <Name lang="en">Combined immunodeficiency due to CARMIL2 deficiency</Name>
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+            <Name lang="en">capping protein regulator and myosin 1 linker 2</Name>
+            <Symbol>CARMIL2</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159753</Reference>
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+      <Name lang="en">Leukoencephalopathy with calcifications and cysts</Name>
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+            <Name lang="en">small nucleolar RNA, C/D box 118</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000200463</Reference>
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+              <Synonym lang="en">homolog of mouse microphthalmia</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Reference>O75030</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hereditary myopathy with lactic acidosis due to ISCU deficiency</Name>
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+                <Source>HGNC</Source>
+                <Reference>29882</Reference>
+              </ExternalReference>
+              <ExternalReference id="39289">
+                <Source>OMIM</Source>
+                <Reference>611911</Reference>
+              </ExternalReference>
+              <ExternalReference id="83117">
+                <Source>Reactome</Source>
+                <Reference>Q9H1K1</Reference>
+              </ExternalReference>
+              <ExternalReference id="39290">
+                <Source>SwissProt</Source>
+                <Reference>Q9H1K1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21253">
+                <GeneLocus>12q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="10589">
+      <OrphaCode>45448</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=45448</ExpertLink>
+      <Name lang="en">Miyoshi myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18853459[PMID]</SourceOfValidation>
+          <Gene id="15903">
+            <Name lang="en">dysferlin</Name>
+            <Symbol>DYSF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FER1L1</Synonym>
+              <Synonym lang="en">fer-1-like family member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58892">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135636</Reference>
+              </ExternalReference>
+              <ExternalReference id="28731">
+                <Source>Genatlas</Source>
+                <Reference>DYSF</Reference>
+              </ExternalReference>
+              <ExternalReference id="28733">
+                <Source>HGNC</Source>
+                <Reference>3097</Reference>
+              </ExternalReference>
+              <ExternalReference id="28732">
+                <Source>OMIM</Source>
+                <Reference>603009</Reference>
+              </ExternalReference>
+              <ExternalReference id="97205">
+                <Source>Reactome</Source>
+                <Reference>O75923</Reference>
+              </ExternalReference>
+              <ExternalReference id="32916">
+                <Source>SwissProt</Source>
+                <Reference>O75923</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23015">
+                <GeneLocus>2p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28061">
+      <OrphaCode>543470</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=543470</ExpertLink>
+      <Name lang="en">Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29040572[PMID]</SourceOfValidation>
+          <Gene id="27602">
+            <Name lang="en">ferredoxin reductase</Name>
+            <Symbol>FDXR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ADR</Synonym>
+              <Synonym lang="en">adrenodoxin reductase</Synonym>
+              <Synonym lang="en">adrenodoxin-NADP(+) reductase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="160704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161513</Reference>
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+              <ExternalReference id="160705">
+                <Source>SwissProt</Source>
+                <Reference>P22570</Reference>
+              </ExternalReference>
+              <ExternalReference id="160706">
+                <Source>Reactome</Source>
+                <Reference>P22570</Reference>
+              </ExternalReference>
+              <ExternalReference id="160703">
+                <Source>HGNC</Source>
+                <Reference>3642</Reference>
+              </ExternalReference>
+              <ExternalReference id="160707">
+                <Source>OMIM</Source>
+                <Reference>103270</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="28056">
+      <OrphaCode>542657</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=542657</ExpertLink>
+      <Name lang="en">Isolated hyperchlorhidrosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21035102[PMID]</SourceOfValidation>
+          <Gene id="28418">
+            <Name lang="en">carbonic anhydrase 12</Name>
+            <Symbol>CA12</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HsT18816</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="171976">
+                <Source>HGNC</Source>
+                <Reference>1371</Reference>
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+              <ExternalReference id="171977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074410</Reference>
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+              <ExternalReference id="171978">
+                <Source>SwissProt</Source>
+                <Reference>O43570</Reference>
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+              <ExternalReference id="171979">
+                <Source>Reactome</Source>
+                <Reference>O43570</Reference>
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+              <ExternalReference id="171980">
+                <Source>IUPHAR</Source>
+                <Reference>2747</Reference>
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+              <ExternalReference id="171981">
+                <Source>OMIM</Source>
+                <Reference>603263</Reference>
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+                <GeneLocus>15q22.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10584">
+      <OrphaCode>44890</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=44890</ExpertLink>
+      <Name lang="en">Gastrointestinal stromal tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23730622[PMID]_23282968[PMID]_21505157[PMID]_21997697[PMID]</SourceOfValidation>
+          <Gene id="15261">
+            <Name lang="en">succinate dehydrogenase complex flavoprotein subunit A</Name>
+            <Symbol>SDHA</Symbol>
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+              <Synonym lang="en">FP</Synonym>
+              <Synonym lang="en">SDHF</Synonym>
+              <Synonym lang="en">flavoprotein subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] flavoprotein subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073578</Reference>
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+              <ExternalReference id="25671">
+                <Source>Genatlas</Source>
+                <Reference>SDHA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10680</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P31040</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21173220[PMID]</SourceOfValidation>
+          <Gene id="15262">
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+              <Synonym lang="en">iron-sulfur subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] iron-sulfur subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57053">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P21912</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117118</Reference>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">succinate dehydrgenase cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrogenase cytochrome b560 subunit</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">CD117</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">CD117</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>23730622[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital fibrosis of extraocular muscles</Name>
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+            <Name lang="en">paired like homeobox 2A</Name>
+            <Symbol>PHOX2A</Symbol>
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+              <Synonym lang="en">PMX2A</Synonym>
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+                <Reference>691</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301522[PMID]</SourceOfValidation>
+          <Gene id="16305">
+            <Name lang="en">kinesin family member 21A</Name>
+            <Symbol>KIF21A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20052</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100305">
+                <Source>Reactome</Source>
+                <Reference>Q7Z4S6</Reference>
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+              <ExternalReference id="59067">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139116</Reference>
+              </ExternalReference>
+              <ExternalReference id="30685">
+                <Source>Genatlas</Source>
+                <Reference>KIF21A</Reference>
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+              <ExternalReference id="30687">
+                <Source>HGNC</Source>
+                <Reference>19349</Reference>
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+              <ExternalReference id="30686">
+                <Source>OMIM</Source>
+                <Reference>608283</Reference>
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+              <ExternalReference id="33370">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z4S6</Reference>
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+            <LocusList count="1">
+              <Locus id="19185">
+                <GeneLocus>12q12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301522[PMID]</SourceOfValidation>
+          <Gene id="19021">
+            <Name lang="en">tubulin beta 3 class III</Name>
+            <Symbol>TUBB3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CFEOM3</Synonym>
+              <Synonym lang="en">CFEOM3A</Synonym>
+              <Synonym lang="en">beta-4</Synonym>
+              <Synonym lang="en">class III beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96209">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000258947</Reference>
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+              <ExternalReference id="44942">
+                <Source>Genatlas</Source>
+                <Reference>TUBB3</Reference>
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+              <ExternalReference id="44943">
+                <Source>HGNC</Source>
+                <Reference>20772</Reference>
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+              <ExternalReference id="87991">
+                <Source>IUPHAR</Source>
+                <Reference>2752</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602661</Reference>
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+              <ExternalReference id="59070">
+                <Source>Reactome</Source>
+                <Reference>Q13509</Reference>
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+              <ExternalReference id="44945">
+                <Source>SwissProt</Source>
+                <Reference>Q13509</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23001566[PMID]</SourceOfValidation>
+          <Gene id="18462">
+            <Name lang="en">tubulin beta 2B class IIb</Name>
+            <Symbol>TUBB2B</Symbol>
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+              <Synonym lang="en">DKFZp566F223</Synonym>
+              <Synonym lang="en">MGC8685</Synonym>
+              <Synonym lang="en">bA506K6.1</Synonym>
+              <Synonym lang="en">class IIb beta-tubulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60020">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137285</Reference>
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+              <ExternalReference id="46820">
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+                <Reference>TUBB2B</Reference>
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+              <ExternalReference id="42404">
+                <Source>HGNC</Source>
+                <Reference>30829</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612850</Reference>
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+              <ExternalReference id="60021">
+                <Source>Reactome</Source>
+                <Reference>Q9BVA1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BVA1</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28070">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=544254</ExpertLink>
+      <Name lang="en">SYNGAP1-related developmental and epileptic encephalopathy</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30541864[PMID]</SourceOfValidation>
+          <Gene id="18361">
+            <Name lang="en">synaptic Ras GTPase activating protein 1</Name>
+            <Symbol>SYNGAP1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1938</Synonym>
+              <Synonym lang="en">RASA5</Synonym>
+              <Synonym lang="en">SYNGAP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60255">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197283</Reference>
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+              <ExternalReference id="41759">
+                <Source>Genatlas</Source>
+                <Reference>SYNGAP1</Reference>
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+              <ExternalReference id="41760">
+                <Source>HGNC</Source>
+                <Reference>11497</Reference>
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+              <ExternalReference id="41761">
+                <Source>OMIM</Source>
+                <Reference>603384</Reference>
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+              <ExternalReference id="97278">
+                <Source>Reactome</Source>
+                <Reference>Q96PV0</Reference>
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+              <ExternalReference id="41762">
+                <Source>SwissProt</Source>
+                <Reference>Q96PV0</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6p21.32</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="10594">
+      <OrphaCode>46348</OrphaCode>
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+      <Name lang="en">Paroxysmal extreme pain disorder</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="21860">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 10</Name>
+            <Symbol>SCN10A</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">hPN3</Synonym>
+              <Synonym lang="en">peripheral nerve sodium channel 3</Synonym>
+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185313</Reference>
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+              <ExternalReference id="77054">
+                <Source>Genatlas</Source>
+                <Reference>SCN10A</Reference>
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+              <ExternalReference id="77052">
+                <Source>HGNC</Source>
+                <Reference>10582</Reference>
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+              <ExternalReference id="83657">
+                <Source>IUPHAR</Source>
+                <Reference>585</Reference>
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+              <ExternalReference id="77053">
+                <Source>OMIM</Source>
+                <Reference>604427</Reference>
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+              <ExternalReference id="97337">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y9</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+          <SourceOfValidation/>
+          <Gene id="21899">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 11</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83710">
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+                <Source>HGNC</Source>
+                <Reference>10583</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>586</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604385</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UI33</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17145499[PMID]</SourceOfValidation>
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+              <Synonym lang="en">NENA</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000169432</Reference>
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+                <Reference>584</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>SC5D</Symbol>
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+                <Source>Reactome</Source>
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+                <Reference>MET</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000008196</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92481</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92481</Reference>
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+      <OrphaCode>46532</OrphaCode>
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+      <Name lang="en">Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19050890[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
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+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
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+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
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+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
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+              <ExternalReference id="30123">
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+                <Reference>HBB</Reference>
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+            <LocusList count="1">
+              <Locus id="26223">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>6210198[PMID]_24144231[PMID]</SourceOfValidation>
+          <Gene id="19236">
+            <Name lang="en">hemoglobin subunit gamma 1</Name>
+            <Symbol>HBG1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBG-T2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59076">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213934</Reference>
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+              <ExternalReference id="46606">
+                <Source>Genatlas</Source>
+                <Reference>HBG1</Reference>
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+              <ExternalReference id="46605">
+                <Source>HGNC</Source>
+                <Reference>4831</Reference>
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+              <ExternalReference id="46608">
+                <Source>OMIM</Source>
+                <Reference>142200</Reference>
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+              <ExternalReference id="59077">
+                <Source>Reactome</Source>
+                <Reference>P69891</Reference>
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+                <Reference>P69891</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19050890[PMID]_24144231[PMID]_25435729[PMID]</SourceOfValidation>
+          <Gene id="19237">
+            <Name lang="en">hemoglobin subunit gamma 2</Name>
+            <Symbol>HBG2</Symbol>
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+              <Synonym lang="en">HBG-T1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196565</Reference>
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+              <ExternalReference id="46611">
+                <Source>Genatlas</Source>
+                <Reference>HBG2</Reference>
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+              <ExternalReference id="46610">
+                <Source>HGNC</Source>
+                <Reference>4832</Reference>
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+              <ExternalReference id="46613">
+                <Source>OMIM</Source>
+                <Reference>142250</Reference>
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+              <ExternalReference id="59079">
+                <Source>Reactome</Source>
+                <Reference>P69892</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P69892</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20676099[PMID]</SourceOfValidation>
+          <Gene id="19340">
+            <Name lang="en">KLF transcription factor 1</Name>
+            <Symbol>KLF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EKLF</Synonym>
+              <Synonym lang="en">erythroid Kruppel-like factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58652">
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+                <Reference>ENSG00000105610</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KLF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6345</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600599</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13351</Reference>
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+                <GeneLocus>19p13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
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+    <Disorder id="28085">
+      <OrphaCode>544503</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=544503</ExpertLink>
+      <Name lang="en">RNF13-related severe early-onset epileptic encephalopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30595371[PMID]</SourceOfValidation>
+          <Gene id="28275">
+            <Name lang="en">ring finger protein 13</Name>
+            <Symbol>RNF13</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RZF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="171448">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082996</Reference>
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+              <ExternalReference id="171449">
+                <Source>SwissProt</Source>
+                <Reference>O43567</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43567</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609247</Reference>
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+                <GeneLocus>3q25.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=544488</ExpertLink>
+      <Name lang="en">Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome</Name>
+      <DisorderType id="21394">
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+      <DisorderGroup id="36547">
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+            <Name lang="en">ornithine decarboxylase 1</Name>
+            <Symbol>ODC1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115758</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11926</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P11926</Reference>
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+                <Source>IUPHAR</Source>
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+      <Name lang="en">PRUNE1-related neurological syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">prune exopolyphosphatase 1</Name>
+            <Symbol>PRUNE1</Symbol>
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+              <Synonym lang="en">H-PRUNE</Synonym>
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+                <Source>SwissProt</Source>
+                <Reference>Q86TP1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143363</Reference>
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+      <Name lang="en">Atypical hemolytic uremic syndrome with complement gene abnormality</Name>
+      <DisorderType id="21443">
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+            <Name lang="en">complement C3</Name>
+            <Symbol>C3</Symbol>
+            <SynonymList count="8">
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+              <Synonym lang="en">C3a anaphylatoxin</Synonym>
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+              <Synonym lang="en">CPAMD1</Synonym>
+              <Synonym lang="en">complement component C3a</Synonym>
+              <Synonym lang="en">complement component C3b</Synonym>
+              <Synonym lang="en">prepro-C3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000125730</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>CD46</Symbol>
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+                <Source>Reactome</Source>
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+            <Symbol>CFB</Symbol>
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+                <Source>Reactome</Source>
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+          <Gene id="15437">
+            <Name lang="en">complement factor H</Name>
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+              <Synonym lang="en">ARMS1</Synonym>
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+              <Synonym lang="en">H factor 2 (complement)</Synonym>
+              <Synonym lang="en">HUS</Synonym>
+              <Synonym lang="en">age-related maculopathy susceptibility 1</Synonym>
+              <Synonym lang="en">beta-1H</Synonym>
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+                <Reference>134370</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301541[PMID]</SourceOfValidation>
+          <Gene id="15438">
+            <Name lang="en">complement factor I</Name>
+            <Symbol>CFI</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C3b-INA</Synonym>
+              <Synonym lang="en">C3b-inactivator</Synonym>
+              <Synonym lang="en">FI</Synonym>
+              <Synonym lang="en">KAF</Synonym>
+              <Synonym lang="en">Konglutinogen-activating factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26519">
+                <Source>OMIM</Source>
+                <Reference>217030</Reference>
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+              <ExternalReference id="59694">
+                <Source>Reactome</Source>
+                <Reference>P05156</Reference>
+              </ExternalReference>
+              <ExternalReference id="32407">
+                <Source>SwissProt</Source>
+                <Reference>P05156</Reference>
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+              <ExternalReference id="59693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205403</Reference>
+              </ExternalReference>
+              <ExternalReference id="26518">
+                <Source>Genatlas</Source>
+                <Reference>CFI</Reference>
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+              <ExternalReference id="26520">
+                <Source>HGNC</Source>
+                <Reference>5394</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7407">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301541[PMID]</SourceOfValidation>
+          <Gene id="15616">
+            <Name lang="en">thrombomodulin</Name>
+            <Symbol>THBD</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BDCA-3</Synonym>
+              <Synonym lang="en">CD141</Synonym>
+              <Synonym lang="en">THRM</Synonym>
+              <Synonym lang="en">fetomodulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58509">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178726</Reference>
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+              <ExternalReference id="27381">
+                <Source>Genatlas</Source>
+                <Reference>THBD</Reference>
+              </ExternalReference>
+              <ExternalReference id="27383">
+                <Source>HGNC</Source>
+                <Reference>11784</Reference>
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+              <ExternalReference id="27382">
+                <Source>OMIM</Source>
+                <Reference>188040</Reference>
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+              <ExternalReference id="58510">
+                <Source>Reactome</Source>
+                <Reference>P07204</Reference>
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+              <ExternalReference id="32587">
+                <Source>SwissProt</Source>
+                <Reference>P07204</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>20p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>47045</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=47045</ExpertLink>
+      <Name lang="en">Familial cold urticaria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>11687797[PMID]</SourceOfValidation>
+          <Gene id="16553">
+            <Name lang="en">NLR family pyrin domain containing 3</Name>
+            <Symbol>NLRP3</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">AGTAVPRL</Synonym>
+              <Synonym lang="en">AII</Synonym>
+              <Synonym lang="en">AVP</Synonym>
+              <Synonym lang="en">CLR1.1</Synonym>
+              <Synonym lang="en">Cryopyrin</Synonym>
+              <Synonym lang="en">FCAS</Synonym>
+              <Synonym lang="en">FCU</Synonym>
+              <Synonym lang="en">MWS</Synonym>
+              <Synonym lang="en">NALP3</Synonym>
+              <Synonym lang="en">PYPAF1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162711</Reference>
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+              <ExternalReference id="36623">
+                <Source>Genatlas</Source>
+                <Reference>NLRP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31839">
+                <Source>HGNC</Source>
+                <Reference>16400</Reference>
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+              <ExternalReference id="31838">
+                <Source>OMIM</Source>
+                <Reference>606416</Reference>
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+              <ExternalReference id="58243">
+                <Source>Reactome</Source>
+                <Reference>Q96P20</Reference>
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+              <ExternalReference id="33618">
+                <Source>SwissProt</Source>
+                <Reference>Q96P20</Reference>
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+              <ExternalReference id="190378">
+                <Source>IUPHAR</Source>
+                <Reference>1770</Reference>
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+                <GeneLocus>1q44</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>544628</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=544628</ExpertLink>
+      <Name lang="en">Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24285859[PMID]</SourceOfValidation>
+          <Gene id="16210">
+            <Name lang="en">hepatocyte nuclear factor 4 alpha</Name>
+            <Symbol>HNF4A</Symbol>
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+              <Synonym lang="en">HNF4</Synonym>
+              <Synonym lang="en">NR2A1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="37480">
+                <Source>Genatlas</Source>
+                <Reference>HNF4A</Reference>
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+              <ExternalReference id="30239">
+                <Source>HGNC</Source>
+                <Reference>5024</Reference>
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+              <ExternalReference id="82953">
+                <Source>IUPHAR</Source>
+                <Reference>608</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P41235</Reference>
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+              <ExternalReference id="33274">
+                <Source>SwissProt</Source>
+                <Reference>P41235</Reference>
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+              <ExternalReference id="58798">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101076</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Congenital myopathy with reduced type 2 muscle fibers</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30215711[PMID]</SourceOfValidation>
+          <Gene id="28282">
+            <Name lang="en">myosin light chain 1</Name>
+            <Symbol>MYL1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168530</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P05976</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P05976</Reference>
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+      <Name lang="en">NAD(P)HX dehydratase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NAD(P)HX dehydratase</Name>
+            <Symbol>NAXD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ATP-dependent NAD(P)H-hydrate dehydratase</Synonym>
+              <Synonym lang="en">FLJ10769</Synonym>
+              <Synonym lang="en">LP3298</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213995</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IW45</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8IW45</Reference>
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+      <Name lang="en">NAD(P)HX epimerase deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">NAD(P)HX epimerase</Name>
+            <Symbol>NAXE</Symbol>
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+              <Synonym lang="en">MGC119145</Synonym>
+              <Synonym lang="en">NAD(P)H-hydrate epimerase</Synonym>
+              <Synonym lang="en">YJEFN1</Synonym>
+              <Synonym lang="en">apoA-I binding protein</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163382</Reference>
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+      <Name lang="en">FLNA-related X-linked myxomatous valvular dysplasia</Name>
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+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
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+      <Name lang="en">Early-onset familial hypoaldosteronism</Name>
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+              <Synonym lang="en">CPN2</Synonym>
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+                <Reference>1360</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179142</Reference>
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+                <Source>Genatlas</Source>
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+      <OrphaCode>556985</OrphaCode>
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+      <Name lang="en">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</Name>
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+            <Name lang="en">colony stimulating factor 1 receptor</Name>
+            <Symbol>CSF1R</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C-FMS</Synonym>
+              <Synonym lang="en">CD115</Synonym>
+              <Synonym lang="en">CSFR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100339">
+                <Source>Reactome</Source>
+                <Reference>P07333</Reference>
+              </ExternalReference>
+              <ExternalReference id="83558">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182578</Reference>
+              </ExternalReference>
+              <ExternalReference id="74833">
+                <Source>Genatlas</Source>
+                <Reference>CSF1R</Reference>
+              </ExternalReference>
+              <ExternalReference id="74831">
+                <Source>HGNC</Source>
+                <Reference>2433</Reference>
+              </ExternalReference>
+              <ExternalReference id="83559">
+                <Source>IUPHAR</Source>
+                <Reference>1806</Reference>
+              </ExternalReference>
+              <ExternalReference id="74832">
+                <Source>OMIM</Source>
+                <Reference>164770</Reference>
+              </ExternalReference>
+              <ExternalReference id="74834">
+                <Source>SwissProt</Source>
+                <Reference>P07333</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19253">
+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28138">
+      <OrphaCode>556955</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=556955</ExpertLink>
+      <Name lang="en">Pancreatic agenesis-holoprosencephaly syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31006513[PMID]</SourceOfValidation>
+          <Gene id="28665">
+            <Name lang="en">CCR4-NOT transcription complex subunit 1</Name>
+            <Symbol>CNOT1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AD-005</Synonym>
+              <Synonym lang="en">CDC39</Synonym>
+              <Synonym lang="en">KIAA1007</Synonym>
+              <Synonym lang="en">NOT1H</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="179093">
+                <Source>HGNC</Source>
+                <Reference>7877</Reference>
+              </ExternalReference>
+              <ExternalReference id="179094">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125107</Reference>
+              </ExternalReference>
+              <ExternalReference id="179095">
+                <Source>SwissProt</Source>
+                <Reference>A5YKK6</Reference>
+              </ExternalReference>
+              <ExternalReference id="179096">
+                <Source>Reactome</Source>
+                <Reference>A5YKK6</Reference>
+              </ExternalReference>
+              <ExternalReference id="179097">
+                <Source>OMIM</Source>
+                <Reference>604917</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="53717">
+                <GeneLocus>16q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28142">
+      <OrphaCode>557064</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=557064</ExpertLink>
+      <Name lang="en">Neonatal epileptic encephalopathy due to glutaminase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30575854[PMID]</SourceOfValidation>
+          <Gene id="28271">
+            <Name lang="en">glutaminase</Name>
+            <Symbol>GLS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GLS1</Synonym>
+              <Synonym lang="en">KIAA0838</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="171418">
+                <Source>HGNC</Source>
+                <Reference>4331</Reference>
+              </ExternalReference>
+              <ExternalReference id="171419">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115419</Reference>
+              </ExternalReference>
+              <ExternalReference id="171420">
+                <Source>SwissProt</Source>
+                <Reference>O94925</Reference>
+              </ExternalReference>
+              <ExternalReference id="171421">
+                <Source>Reactome</Source>
+                <Reference>O94925</Reference>
+              </ExternalReference>
+              <ExternalReference id="171422">
+                <Source>IUPHAR</Source>
+                <Reference>2891</Reference>
+              </ExternalReference>
+              <ExternalReference id="171423">
+                <Source>OMIM</Source>
+                <Reference>138280</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="52191">
+                <GeneLocus>2q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28141">
+      <OrphaCode>557056</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=557056</ExpertLink>
+      <Name lang="en">Spastic ataxia-dysarthria due to glutaminase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30575854[PMID]_30970188[PMID]_30987386[PMID]</SourceOfValidation>
+          <Gene id="28271">
+            <Name lang="en">glutaminase</Name>
+            <Symbol>GLS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GLS1</Synonym>
+              <Synonym lang="en">KIAA0838</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="171418">
+                <Source>HGNC</Source>
+                <Reference>4331</Reference>
+              </ExternalReference>
+              <ExternalReference id="171419">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115419</Reference>
+              </ExternalReference>
+              <ExternalReference id="171420">
+                <Source>SwissProt</Source>
+                <Reference>O94925</Reference>
+              </ExternalReference>
+              <ExternalReference id="171421">
+                <Source>Reactome</Source>
+                <Reference>O94925</Reference>
+              </ExternalReference>
+              <ExternalReference id="171422">
+                <Source>IUPHAR</Source>
+                <Reference>2891</Reference>
+              </ExternalReference>
+              <ExternalReference id="171423">
+                <Source>OMIM</Source>
+                <Reference>138280</Reference>
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+            <LocusList count="1">
+              <Locus id="52191">
+                <GeneLocus>2q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="28140">
+      <OrphaCode>557003</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=557003</ExpertLink>
+      <Name lang="en">Oculoskeletodental syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31034465[PMID]</SourceOfValidation>
+          <Gene id="26714">
+            <Name lang="en">phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha</Name>
+            <Symbol>PIK3C2A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PI3K-C2alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="156406">
+                <Source>HGNC</Source>
+                <Reference>8971</Reference>
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+              <ExternalReference id="156536">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011405</Reference>
+              </ExternalReference>
+              <ExternalReference id="156537">
+                <Source>IUPHAR</Source>
+                <Reference>2150</Reference>
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+              <ExternalReference id="200574">
+                <Source>SwissProt</Source>
+                <Reference>O00443</Reference>
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+              <ExternalReference id="190909">
+                <Source>OMIM</Source>
+                <Reference>603601</Reference>
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+              <ExternalReference id="156938">
+                <Source>Genatlas</Source>
+                <Reference>PIK3C2A</Reference>
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+            <LocusList count="1">
+              <Locus id="80123">
+                <GeneLocus>11p15.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="27251">
+      <OrphaCode>519388</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=519388</ExpertLink>
+      <Name lang="en">Autosomal recessive anterior segment dysgenesis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27839872[PMID]</SourceOfValidation>
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+            <Name lang="en">C3 and PZP like alpha-2-macroglobulin domain containing 8</Name>
+            <Symbol>CPAMD8</Symbol>
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+              <Synonym lang="en">K-CAP</Synonym>
+              <Synonym lang="en">KIAA1283</Synonym>
+              <Synonym lang="en">VIP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>23228</Reference>
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+              <ExternalReference id="171994">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160111</Reference>
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+              <ExternalReference id="171996">
+                <Source>OMIM</Source>
+                <Reference>608841</Reference>
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+              <ExternalReference id="171995">
+                <Source>SwissProt</Source>
+                <Reference>Q8IZJ3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Retinopathy of prematurity</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">LDL receptor related protein 5</Name>
+            <Symbol>LRP5</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BMND1</Synonym>
+              <Synonym lang="en">EVR4</Synonym>
+              <Synonym lang="en">HBM</Synonym>
+              <Synonym lang="en">LR3</Synonym>
+              <Synonym lang="en">OPS</Synonym>
+              <Synonym lang="en">OPTA1</Synonym>
+              <Synonym lang="en">VBCH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162337</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LRP5</Reference>
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+              <ExternalReference id="31000">
+                <Source>HGNC</Source>
+                <Reference>6697</Reference>
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+              <ExternalReference id="30999">
+                <Source>OMIM</Source>
+                <Reference>603506</Reference>
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+              <ExternalReference id="87979">
+                <Source>Reactome</Source>
+                <Reference>O75197</Reference>
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+                <Reference>O75197</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>23441120[PMID]</SourceOfValidation>
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+            <Name lang="en">frizzled class receptor 4</Name>
+            <Symbol>FZD4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174804</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FZD4</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>232</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604579</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULV1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULV1</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301506[PMID]</SourceOfValidation>
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+            <Name lang="en">norrin cystine knot growth factor NDP</Name>
+            <Symbol>NDP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">norrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124479</Reference>
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+                <Reference>7678</Reference>
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+                <Reference>Q00604</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Hereditary folate malabsorption</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16874">
+            <Name lang="en">solute carrier family 46 member 1</Name>
+            <Symbol>SLC46A1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HCP1</Synonym>
+              <Synonym lang="en">MGC9564</Synonym>
+              <Synonym lang="en">PCFT</Synonym>
+              <Synonym lang="en">heme carrier protein 1</Synonym>
+              <Synonym lang="en">proton-coupled folate transporter</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1213</Reference>
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+              <ExternalReference id="59545">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076351</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC46A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30521</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611672</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96NT5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96NT5</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11936">
+      <OrphaCode>90039</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90039</ExpertLink>
+      <Name lang="en">Hemoglobin D disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11757720[PMID]_25332633[PMID]</SourceOfValidation>
+          <Gene id="16186">
+            <Name lang="en">hemoglobin subunit beta</Name>
+            <Symbol>HBB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CD113t-C</Synonym>
+              <Synonym lang="en">beta-globin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30121">
+                <Source>HGNC</Source>
+                <Reference>4827</Reference>
+              </ExternalReference>
+              <ExternalReference id="30120">
+                <Source>OMIM</Source>
+                <Reference>141900</Reference>
+              </ExternalReference>
+              <ExternalReference id="56846">
+                <Source>Reactome</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="33205">
+                <Source>SwissProt</Source>
+                <Reference>P68871</Reference>
+              </ExternalReference>
+              <ExternalReference id="56845">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244734</Reference>
+              </ExternalReference>
+              <ExternalReference id="30123">
+                <Source>Genatlas</Source>
+                <Reference>HBB</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26223">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11939">
+      <OrphaCode>90044</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90044</ExpertLink>
+      <Name lang="en">Familial pseudohyperkalemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23180570[PMID]_24947683[PMID]</SourceOfValidation>
+          <Gene id="20790">
+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
+            <Symbol>ABCB6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-binding cassette half-transporter</Synonym>
+              <Synonym lang="en">EST45597</Synonym>
+              <Synonym lang="en">MTABC3</Synonym>
+              <Synonym lang="en">umat</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60682">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115657</Reference>
+              </ExternalReference>
+              <ExternalReference id="60680">
+                <Source>Genatlas</Source>
+                <Reference>ABCB6</Reference>
+              </ExternalReference>
+              <ExternalReference id="60678">
+                <Source>HGNC</Source>
+                <Reference>47</Reference>
+              </ExternalReference>
+              <ExternalReference id="60679">
+                <Source>OMIM</Source>
+                <Reference>605452</Reference>
+              </ExternalReference>
+              <ExternalReference id="83240">
+                <Source>Reactome</Source>
+                <Reference>Q9NP58</Reference>
+              </ExternalReference>
+              <ExternalReference id="60681">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
+              </ExternalReference>
+              <ExternalReference id="190530">
+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60469">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11938">
+      <OrphaCode>90042</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90042</ExpertLink>
+      <Name lang="en">Primary familial polycythemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9359528[PMID]_9192789[PMID]</SourceOfValidation>
+          <Gene id="15987">
+            <Name lang="en">erythropoietin receptor</Name>
+            <Symbol>EPOR</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143022">
+                <Source>Reactome</Source>
+                <Reference>P19235</Reference>
+              </ExternalReference>
+              <ExternalReference id="59544">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187266</Reference>
+              </ExternalReference>
+              <ExternalReference id="29127">
+                <Source>Genatlas</Source>
+                <Reference>EPOR</Reference>
+              </ExternalReference>
+              <ExternalReference id="29129">
+                <Source>HGNC</Source>
+                <Reference>3416</Reference>
+              </ExternalReference>
+              <ExternalReference id="82901">
+                <Source>IUPHAR</Source>
+                <Reference>1718</Reference>
+              </ExternalReference>
+              <ExternalReference id="29128">
+                <Source>OMIM</Source>
+                <Reference>133171</Reference>
+              </ExternalReference>
+              <ExternalReference id="32999">
+                <Source>SwissProt</Source>
+                <Reference>P19235</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37761">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11926">
+      <OrphaCode>90024</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90024</ExpertLink>
+      <Name lang="en">Deafness with labyrinthine aplasia, microtia, and microdontia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22993869[PMID]</SourceOfValidation>
+          <Gene id="17362">
+            <Name lang="en">fibroblast growth factor 3</Name>
+            <Symbol>FGF3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HBGF-3</Synonym>
+              <Synonym lang="en">INT-2 proto-oncogene protein</Synonym>
+              <Synonym lang="en">V-INT2 murine mammary tumor virus integration site oncogene homolog</Synonym>
+              <Synonym lang="en">murine mammary tumor virus integration site 2, mouse</Synonym>
+              <Synonym lang="en">oncogene INT2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58282">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186895</Reference>
+              </ExternalReference>
+              <ExternalReference id="37039">
+                <Source>Genatlas</Source>
+                <Reference>FGF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="37041">
+                <Source>HGNC</Source>
+                <Reference>3681</Reference>
+              </ExternalReference>
+              <ExternalReference id="37040">
+                <Source>OMIM</Source>
+                <Reference>164950</Reference>
+              </ExternalReference>
+              <ExternalReference id="58283">
+                <Source>Reactome</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+              <ExternalReference id="37042">
+                <Source>SwissProt</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23053">
+                <GeneLocus>11q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11925">
+      <OrphaCode>90023</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90023</ExpertLink>
+      <Name lang="en">Primary immunodeficiency syndrome due to LAMTOR2 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17582">
+            <Name lang="en">late endosomal/lysosomal adaptor, MAPK and MTOR activator 2</Name>
+            <Symbol>LAMTOR2</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ENDAP</Synonym>
+              <Synonym lang="en">Endosomal adaptor protein</Synonym>
+              <Synonym lang="en">MAPBPIP</Synonym>
+              <Synonym lang="en">MAPKSP1 adaptor protein</Synonym>
+              <Synonym lang="en">MAPKSP1AP</Synonym>
+              <Synonym lang="en">Mitogen activated protein binding protein interacting protein</Synonym>
+              <Synonym lang="en">Ragulator2</Synonym>
+              <Synonym lang="en">endosomal adaptor protein</Synonym>
+              <Synonym lang="en">mitogen activated protein binding protein interacting protein</Synonym>
+              <Synonym lang="en">p14</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59539">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116586</Reference>
+              </ExternalReference>
+              <ExternalReference id="80155">
+                <Source>Genatlas</Source>
+                <Reference>LAMTOR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="38649">
+                <Source>HGNC</Source>
+                <Reference>29796</Reference>
+              </ExternalReference>
+              <ExternalReference id="38650">
+                <Source>OMIM</Source>
+                <Reference>610389</Reference>
+              </ExternalReference>
+              <ExternalReference id="97265">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2Q5</Reference>
+              </ExternalReference>
+              <ExternalReference id="82611">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2Q5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16777">
+                <GeneLocus>1q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11922">
+      <OrphaCode>90020</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90020</ExpertLink>
+      <Name lang="en">Parkinson-dementia complex of Guam</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16609">
+            <Name lang="en">Parkinsonism associated deglycase</Name>
+            <Symbol>PARK7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DJ-1</Synonym>
+              <Synonym lang="en">DJ1</Synonym>
+              <Synonym lang="en">GATD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57851">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116288</Reference>
+              </ExternalReference>
+              <ExternalReference id="32105">
+                <Source>Genatlas</Source>
+                <Reference>PARK7</Reference>
+              </ExternalReference>
+              <ExternalReference id="32107">
+                <Source>HGNC</Source>
+                <Reference>16369</Reference>
+              </ExternalReference>
+              <ExternalReference id="32106">
+                <Source>OMIM</Source>
+                <Reference>602533</Reference>
+              </ExternalReference>
+              <ExternalReference id="33674">
+                <Source>SwissProt</Source>
+                <Reference>Q99497</Reference>
+              </ExternalReference>
+              <ExternalReference id="143991">
+                <Source>Reactome</Source>
+                <Reference>Q99497</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39453">
+                <GeneLocus>1p36.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17299">
+            <Name lang="en">transient receptor potential cation channel subfamily M member 7</Name>
+            <Symbol>TRPM7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHAK1</Synonym>
+              <Synonym lang="en">LTRPC7</Synonym>
+              <Synonym lang="en">TRP-PLIK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="36718">
+                <Source>SwissProt</Source>
+                <Reference>Q96QT4</Reference>
+              </ExternalReference>
+              <ExternalReference id="59538">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092439</Reference>
+              </ExternalReference>
+              <ExternalReference id="36715">
+                <Source>Genatlas</Source>
+                <Reference>TRPM7</Reference>
+              </ExternalReference>
+              <ExternalReference id="36717">
+                <Source>HGNC</Source>
+                <Reference>17994</Reference>
+              </ExternalReference>
+              <ExternalReference id="83070">
+                <Source>IUPHAR</Source>
+                <Reference>499</Reference>
+              </ExternalReference>
+              <ExternalReference id="36716">
+                <Source>OMIM</Source>
+                <Reference>605692</Reference>
+              </ExternalReference>
+              <ExternalReference id="83069">
+                <Source>Reactome</Source>
+                <Reference>Q96QT4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22445">
+                <GeneLocus>15q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11930">
+      <OrphaCode>90031</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90031</ExpertLink>
+      <Name lang="en">Non-spherocytic hemolytic anemia due to hexokinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12393545[PMID]</SourceOfValidation>
+          <Gene id="16199">
+            <Name lang="en">hexokinase 1</Name>
+            <Symbol>HK1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156515</Reference>
+              </ExternalReference>
+              <ExternalReference id="30184">
+                <Source>Genatlas</Source>
+                <Reference>HK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30182">
+                <Source>HGNC</Source>
+                <Reference>4922</Reference>
+              </ExternalReference>
+              <ExternalReference id="30181">
+                <Source>OMIM</Source>
+                <Reference>142600</Reference>
+              </ExternalReference>
+              <ExternalReference id="59543">
+                <Source>Reactome</Source>
+                <Reference>P19367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33217">
+                <Source>SwissProt</Source>
+                <Reference>P19367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22863">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11928">
+      <OrphaCode>90026</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90026</ExpertLink>
+      <Name lang="en">Primary erythromelalgia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15958509[PMID]</SourceOfValidation>
+          <Gene id="15255">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 9</Name>
+            <Symbol>SCN9A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ETHA</Synonym>
+              <Synonym lang="en">NE-NA</Synonym>
+              <Synonym lang="en">NENA</Synonym>
+              <Synonym lang="en">Nav1.7</Synonym>
+              <Synonym lang="en">PN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58129">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169432</Reference>
+              </ExternalReference>
+              <ExternalReference id="25643">
+                <Source>Genatlas</Source>
+                <Reference>SCN9A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25641">
+                <Source>HGNC</Source>
+                <Reference>10597</Reference>
+              </ExternalReference>
+              <ExternalReference id="82773">
+                <Source>IUPHAR</Source>
+                <Reference>584</Reference>
+              </ExternalReference>
+              <ExternalReference id="25640">
+                <Source>OMIM</Source>
+                <Reference>603415</Reference>
+              </ExternalReference>
+              <ExternalReference id="58130">
+                <Source>Reactome</Source>
+                <Reference>Q15858</Reference>
+              </ExternalReference>
+              <ExternalReference id="33813">
+                <Source>SwissProt</Source>
+                <Reference>Q15858</Reference>
+              </ExternalReference>
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+              <Locus id="22243">
+                <GeneLocus>2q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21860">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 10</Name>
+            <Symbol>SCN10A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Nav1.8</Synonym>
+              <Synonym lang="en">PN3</Synonym>
+              <Synonym lang="en">SNS</Synonym>
+              <Synonym lang="en">hPN3</Synonym>
+              <Synonym lang="en">peripheral nerve sodium channel 3</Synonym>
+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185313</Reference>
+              </ExternalReference>
+              <ExternalReference id="77054">
+                <Source>Genatlas</Source>
+                <Reference>SCN10A</Reference>
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+              <ExternalReference id="77052">
+                <Source>HGNC</Source>
+                <Reference>10582</Reference>
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+              <ExternalReference id="83657">
+                <Source>IUPHAR</Source>
+                <Reference>585</Reference>
+              </ExternalReference>
+              <ExternalReference id="77053">
+                <Source>OMIM</Source>
+                <Reference>604427</Reference>
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+              <ExternalReference id="97337">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y9</Reference>
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+              <ExternalReference id="77055">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16921">
+                <GeneLocus>3p22.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21899">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 11</Name>
+            <Symbol>SCN11A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NaN</Synonym>
+              <Synonym lang="en">Nav1.9</Synonym>
+              <Synonym lang="en">SNS-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168356</Reference>
+              </ExternalReference>
+              <ExternalReference id="77837">
+                <Source>Genatlas</Source>
+                <Reference>SCN11A</Reference>
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+              <ExternalReference id="77835">
+                <Source>HGNC</Source>
+                <Reference>10583</Reference>
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+              <ExternalReference id="83711">
+                <Source>IUPHAR</Source>
+                <Reference>586</Reference>
+              </ExternalReference>
+              <ExternalReference id="77836">
+                <Source>OMIM</Source>
+                <Reference>604385</Reference>
+              </ExternalReference>
+              <ExternalReference id="97342">
+                <Source>Reactome</Source>
+                <Reference>Q9UI33</Reference>
+              </ExternalReference>
+              <ExternalReference id="77838">
+                <Source>SwissProt</Source>
+                <Reference>Q9UI33</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16931">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11929">
+      <OrphaCode>90030</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90030</ExpertLink>
+      <Name lang="en">Hemolytic anemia due to glutathione reductase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17185460[PMID]</SourceOfValidation>
+          <Gene id="16171">
+            <Name lang="en">glutathione-disulfide reductase</Name>
+            <Symbol>GSR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">glutathione S-reductase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="30051">
+                <Source>HGNC</Source>
+                <Reference>4623</Reference>
+              </ExternalReference>
+              <ExternalReference id="82943">
+                <Source>IUPHAR</Source>
+                <Reference>2613</Reference>
+              </ExternalReference>
+              <ExternalReference id="30050">
+                <Source>OMIM</Source>
+                <Reference>138300</Reference>
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+              <ExternalReference id="59541">
+                <Source>Reactome</Source>
+                <Reference>P00390</Reference>
+              </ExternalReference>
+              <ExternalReference id="33190">
+                <Source>SwissProt</Source>
+                <Reference>P00390</Reference>
+              </ExternalReference>
+              <ExternalReference id="59540">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104687</Reference>
+              </ExternalReference>
+              <ExternalReference id="30053">
+                <Source>Genatlas</Source>
+                <Reference>GSR</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21109">
+                <GeneLocus>8p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11911">
+      <OrphaCode>89936</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89936</ExpertLink>
+      <Name lang="en">X-linked hypophosphatemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22319799[PMID]</SourceOfValidation>
+          <Gene id="16654">
+            <Name lang="en">phosphate regulating endopeptidase X-linked</Name>
+            <Symbol>PHEX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HPDR1</Synonym>
+              <Synonym lang="en">HYP1</Synonym>
+              <Synonym lang="en">PEX</Synonym>
+              <Synonym lang="en">XLH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59534">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102174</Reference>
+              </ExternalReference>
+              <ExternalReference id="32317">
+                <Source>Genatlas</Source>
+                <Reference>PHEX</Reference>
+              </ExternalReference>
+              <ExternalReference id="32315">
+                <Source>HGNC</Source>
+                <Reference>8918</Reference>
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+              <ExternalReference id="32314">
+                <Source>OMIM</Source>
+                <Reference>300550</Reference>
+              </ExternalReference>
+              <ExternalReference id="33758">
+                <Source>SwissProt</Source>
+                <Reference>P78562</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25333">
+                <GeneLocus>Xp22.11</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11909">
+      <OrphaCode>89844</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89844</ExpertLink>
+      <Name lang="en">Lissencephaly syndrome, Norman-Roberts type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21529751[PMID]_21529752[PMID]</SourceOfValidation>
+          <Gene id="20548">
+            <Name lang="en">nudE neurodevelopment protein 1</Name>
+            <Symbol>NDE1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ20101</Synonym>
+              <Synonym lang="en">NDE</Synonym>
+              <Synonym lang="en">NUDE</Synonym>
+              <Synonym lang="en">nudE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58742">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072864</Reference>
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+              <ExternalReference id="54326">
+                <Source>Genatlas</Source>
+                <Reference>NDE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54324">
+                <Source>HGNC</Source>
+                <Reference>17619</Reference>
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+              <ExternalReference id="54325">
+                <Source>OMIM</Source>
+                <Reference>609449</Reference>
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+              <ExternalReference id="58743">
+                <Source>Reactome</Source>
+                <Reference>Q9NXR1</Reference>
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+              <ExternalReference id="54327">
+                <Source>SwissProt</Source>
+                <Reference>Q9NXR1</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25521378[PMID]_25521379[PMID]</SourceOfValidation>
+          <Gene id="23589">
+            <Name lang="en">katanin regulatory subunit B1</Name>
+            <Symbol>KATNB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="98473">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140854</Reference>
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+              <ExternalReference id="98471">
+                <Source>Genatlas</Source>
+                <Reference>KATNB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6217</Reference>
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+              <ExternalReference id="98470">
+                <Source>OMIM</Source>
+                <Reference>602703</Reference>
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+              <ExternalReference id="98472">
+                <Source>SwissProt</Source>
+                <Reference>Q9BVA0</Reference>
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+            <LocusList count="1">
+              <Locus id="23569">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10973257[PMID]</SourceOfValidation>
+          <Gene id="15199">
+            <Name lang="en">reelin</Name>
+            <Symbol>RELN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PRO1598</Synonym>
+              <Synonym lang="en">RL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59533">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189056</Reference>
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+              <ExternalReference id="25382">
+                <Source>Genatlas</Source>
+                <Reference>RELN</Reference>
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+              <ExternalReference id="25380">
+                <Source>HGNC</Source>
+                <Reference>9957</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600514</Reference>
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+              <ExternalReference id="33723">
+                <Source>SwissProt</Source>
+                <Reference>P78509</Reference>
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+              <ExternalReference id="126314">
+                <Source>Reactome</Source>
+                <Reference>P78509</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="11908">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89843</ExpertLink>
+      <Name lang="en">Dystrophic epidermolysis bullosa pruriginosa</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114270</Reference>
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+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
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+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
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+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11907">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89842</ExpertLink>
+      <Name lang="en">Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000114270</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
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+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
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+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>90001</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90001</ExpertLink>
+      <Name lang="en">X-linked cone dysfunction syndrome with myopia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">opsin 1, medium wave sensitive</Name>
+            <Symbol>OPN1MW</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">OPN1MW1</Synonym>
+              <Synonym lang="en">cone dystrophy 5 (X-linked)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>2962</Reference>
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+              <ExternalReference id="95170">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000268221</Reference>
+              </ExternalReference>
+              <ExternalReference id="32028">
+                <Source>Genatlas</Source>
+                <Reference>OPN1MW</Reference>
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+              <ExternalReference id="32030">
+                <Source>HGNC</Source>
+                <Reference>4206</Reference>
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+              <ExternalReference id="77005">
+                <Source>OMIM</Source>
+                <Reference>300821</Reference>
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+              <ExternalReference id="56944">
+                <Source>Reactome</Source>
+                <Reference>P04001</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P04001</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23322568[PMID]</SourceOfValidation>
+          <Gene id="16592">
+            <Name lang="en">opsin 1, long wave sensitive</Name>
+            <Symbol>OPN1LW</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COD5</Synonym>
+              <Synonym lang="en">cone dystrophy 5 (X-linked)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P04000</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102076</Reference>
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+              <ExternalReference id="32026">
+                <Source>Genatlas</Source>
+                <Reference>OPN1LW</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9936</Reference>
+              </ExternalReference>
+              <ExternalReference id="74715">
+                <Source>OMIM</Source>
+                <Reference>300822</Reference>
+              </ExternalReference>
+              <ExternalReference id="190386">
+                <Source>IUPHAR</Source>
+                <Reference>2961</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60181">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11913">
+      <OrphaCode>89938</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89938</ExpertLink>
+      <Name lang="en">Bartter syndrome type 4</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23110775[PMID]</SourceOfValidation>
+          <Gene id="15381">
+            <Name lang="en">barttin CLCNK type accessory subunit beta</Name>
+            <Symbol>BSND</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BART</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162399</Reference>
+              </ExternalReference>
+              <ExternalReference id="26245">
+                <Source>Genatlas</Source>
+                <Reference>BSND</Reference>
+              </ExternalReference>
+              <ExternalReference id="26247">
+                <Source>HGNC</Source>
+                <Reference>16512</Reference>
+              </ExternalReference>
+              <ExternalReference id="26246">
+                <Source>OMIM</Source>
+                <Reference>606412</Reference>
+              </ExternalReference>
+              <ExternalReference id="82792">
+                <Source>Reactome</Source>
+                <Reference>Q8WZ55</Reference>
+              </ExternalReference>
+              <ExternalReference id="33938">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZ55</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1p32.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18310267[PMID]_18776122[PMID]_12920401[PMID]</SourceOfValidation>
+          <Gene id="15461">
+            <Name lang="en">chloride voltage-gated channel Kb</Name>
+            <Symbol>CLCNKB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hClC-Kb</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193675">
+                <Source>IUPHAR</Source>
+                <Reference>701</Reference>
+              </ExternalReference>
+              <ExternalReference id="57949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184908</Reference>
+              </ExternalReference>
+              <ExternalReference id="26633">
+                <Source>Genatlas</Source>
+                <Reference>CLCNKB</Reference>
+              </ExternalReference>
+              <ExternalReference id="26631">
+                <Source>HGNC</Source>
+                <Reference>2027</Reference>
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+              <ExternalReference id="26630">
+                <Source>OMIM</Source>
+                <Reference>602023</Reference>
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+              <ExternalReference id="82821">
+                <Source>Reactome</Source>
+                <Reference>P51801</Reference>
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+              <ExternalReference id="32430">
+                <Source>SwissProt</Source>
+                <Reference>P51801</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="66759">
+                <GeneLocus>1p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18310267[PMID]_18776122[PMID]_12920401[PMID]</SourceOfValidation>
+          <Gene id="17317">
+            <Name lang="en">chloride voltage-gated channel Ka</Name>
+            <Symbol>CLCNKA</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hClC-Ka</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59536">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186510</Reference>
+              </ExternalReference>
+              <ExternalReference id="36795">
+                <Source>Genatlas</Source>
+                <Reference>CLCNKA</Reference>
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+              <ExternalReference id="36797">
+                <Source>HGNC</Source>
+                <Reference>2026</Reference>
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+              <ExternalReference id="36796">
+                <Source>OMIM</Source>
+                <Reference>602024</Reference>
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+              <ExternalReference id="83076">
+                <Source>Reactome</Source>
+                <Reference>P51800</Reference>
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+              <ExternalReference id="36798">
+                <Source>SwissProt</Source>
+                <Reference>P51800</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>700</Reference>
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+                <GeneLocus>1p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11912">
+      <OrphaCode>89937</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89937</ExpertLink>
+      <Name lang="en">Autosomal dominant hypophosphatemic rickets</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11062477[PMID]_19655082[PMID]</SourceOfValidation>
+          <Gene id="16045">
+            <Name lang="en">fibroblast growth factor 23</Name>
+            <Symbol>FGF23</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="33059">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZV9</Reference>
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+              <ExternalReference id="59136">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118972</Reference>
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+              <ExternalReference id="29425">
+                <Source>Genatlas</Source>
+                <Reference>FGF23</Reference>
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+              <ExternalReference id="29427">
+                <Source>HGNC</Source>
+                <Reference>3680</Reference>
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+              <ExternalReference id="29426">
+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9GZV9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12018">
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+      <Name lang="en">Blau syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16556">
+            <Name lang="en">nucleotide binding oligomerization domain containing 2</Name>
+            <Symbol>NOD2</Symbol>
+            <SynonymList count="8">
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+              <Synonym lang="en">CD</Synonym>
+              <Synonym lang="en">CLR16.3</Synonym>
+              <Synonym lang="en">NLR family, CARD domain containing 2</Synonym>
+              <Synonym lang="en">NLRC2</Synonym>
+              <Synonym lang="en">NOD-like receptor C2</Synonym>
+              <Synonym lang="en">PSORAS1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167207</Reference>
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+              <ExternalReference id="36058">
+                <Source>Genatlas</Source>
+                <Reference>NOD2</Reference>
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+              <ExternalReference id="31851">
+                <Source>HGNC</Source>
+                <Reference>5331</Reference>
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+              <ExternalReference id="31850">
+                <Source>OMIM</Source>
+                <Reference>605956</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HC29</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9HC29</Reference>
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+      <Name lang="en">Xeroderma pigmentosum variant</Name>
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+            <Name lang="en">DNA polymerase eta</Name>
+            <Symbol>POLH</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59558">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170734</Reference>
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+              <ExternalReference id="59559">
+                <Source>Reactome</Source>
+                <Reference>Q9Y253</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y253</Reference>
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+      <Name lang="en">Autosomal dominant cutis laxa</Name>
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+            <Name lang="en">aldehyde dehydrogenase 18 family member A1</Name>
+            <Symbol>ALDH18A1</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">delta-1-pyrroline-5-carboxylate synthase</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P54886</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000059573</Reference>
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+                <Source>Genatlas</Source>
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+          <SourceOfValidation>12618961[PMID]_20301756[PMID]</SourceOfValidation>
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+            <Name lang="en">fibulin 5</Name>
+            <Symbol>FBLN5</Symbol>
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+              <Synonym lang="en">ARMD3</Synonym>
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+              <Synonym lang="en">UP50</Synonym>
+              <Synonym lang="en">developmental arteries and neural crest EGF-like</Synonym>
+              <Synonym lang="en">embryonic vascular EGF-like repeat-containing protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140092</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FBLN5</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>16085695[PMID]_18348261[PMID]</SourceOfValidation>
+          <Gene id="15971">
+            <Name lang="en">elastin</Name>
+            <Symbol>ELN</Symbol>
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+              <Synonym lang="en">SVAS</Synonym>
+              <Synonym lang="en">WBS</Synonym>
+              <Synonym lang="en">WS</Synonym>
+              <Synonym lang="en">Williams-Beuren syndrome</Synonym>
+              <Synonym lang="en">supravalvular aortic stenosis</Synonym>
+              <Synonym lang="en">tropoelastin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56870">
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+                <Reference>ENSG00000049540</Reference>
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+                <Reference>ELN</Reference>
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+                <Reference>3327</Reference>
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+                <Reference>130160</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P15502</Reference>
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+      <Name lang="en">Autosomal recessive cutis laxa type 1</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16685658[PMID]_19664000[PMID]</SourceOfValidation>
+          <Gene id="15914">
+            <Name lang="en">EGF containing fibulin extracellular matrix protein 2</Name>
+            <Symbol>EFEMP2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FBLN4</Synonym>
+              <Synonym lang="en">UPH1</Synonym>
+              <Synonym lang="en">fibulin 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59560">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172638</Reference>
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+              <ExternalReference id="37002">
+                <Source>Genatlas</Source>
+                <Reference>EFEMP2</Reference>
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+                <Reference>3219</Reference>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22829427[PMID]</SourceOfValidation>
+          <Gene id="16031">
+            <Name lang="en">fibulin 5</Name>
+            <Symbol>FBLN5</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">DANCE</Synonym>
+              <Synonym lang="en">EVEC</Synonym>
+              <Synonym lang="en">UP50</Synonym>
+              <Synonym lang="en">developmental arteries and neural crest EGF-like</Synonym>
+              <Synonym lang="en">embryonic vascular EGF-like repeat-containing protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000140092</Reference>
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+          <SourceOfValidation>33991472[PMID]</SourceOfValidation>
+          <Gene id="27079">
+            <Name lang="en">latent transforming growth factor beta binding protein 1</Name>
+            <Symbol>LTBP1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90354</ExpertLink>
+      <Name lang="en">Brittle cornea syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">zinc finger protein 469</Name>
+            <Symbol>ZNF469</Symbol>
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+              <Synonym lang="en">KIAA1858</Synonym>
+              <Synonym lang="en">Zfp469</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q96JG9</Reference>
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+                <Reference>ENSG00000225614</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21664999[PMID]</SourceOfValidation>
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+            <Name lang="en">PR/SET domain 5</Name>
+            <Symbol>PRDM5</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>9349</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614161</Reference>
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+                <Reference>Q9NQX1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              <Synonym lang="en">capillary malformation-arteriovenous malformation</Synonym>
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+              <Synonym lang="en">Cockayne syndrome B protein</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>1096</Reference>
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+              <ExternalReference id="96193">
+                <Source>OMIM</Source>
+                <Reference>610826</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96AG3</Reference>
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+              <ExternalReference id="96196">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164209</Reference>
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+              <ExternalReference id="96194">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A46</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16437557[PMID]</SourceOfValidation>
+          <Gene id="16394">
+            <Name lang="en">mitofusin 2</Name>
+            <Symbol>MFN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2A2</Synonym>
+              <Synonym lang="en">CPRP1</Synonym>
+              <Synonym lang="en">KIAA0214</Synonym>
+              <Synonym lang="en">MARF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116688</Reference>
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+              <ExternalReference id="31106">
+                <Source>Genatlas</Source>
+                <Reference>MFN2</Reference>
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+              <ExternalReference id="31104">
+                <Source>HGNC</Source>
+                <Reference>16877</Reference>
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+              <ExternalReference id="31103">
+                <Source>OMIM</Source>
+                <Reference>608507</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95140</Reference>
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+              <ExternalReference id="33458">
+                <Source>SwissProt</Source>
+                <Reference>O95140</Reference>
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+              <ExternalReference id="190394">
+                <Source>IUPHAR</Source>
+                <Reference>3131</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>1p36.22</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="11820">
+      <OrphaCode>88644</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88644</ExpertLink>
+      <Name lang="en">Autosomal recessive ataxia, Beauce type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17159980[PMID]</SourceOfValidation>
+          <Gene id="17290">
+            <Name lang="en">spectrin repeat containing nuclear envelope protein 1</Name>
+            <Symbol>SYNE1</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">8B</Synonym>
+              <Synonym lang="en">ARCA1</Synonym>
+              <Synonym lang="en">CPG2</Synonym>
+              <Synonym lang="en">Enaptin</Synonym>
+              <Synonym lang="en">KIAA0796</Synonym>
+              <Synonym lang="en">MYNE1</Synonym>
+              <Synonym lang="en">Nesp1</Synonym>
+              <Synonym lang="en">Nesprin-1</Synonym>
+              <Synonym lang="en">SCAR8</Synonym>
+              <Synonym lang="en">SYNE-1B</Synonym>
+              <Synonym lang="en">dJ45H2.2</Synonym>
+              <Synonym lang="en">enaptin</Synonym>
+              <Synonym lang="en">myocyte nuclear envelope protein 1</Synonym>
+              <Synonym lang="en">nuclear envelope spectrin repeat-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58016">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131018</Reference>
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+              <ExternalReference id="36660">
+                <Source>Genatlas</Source>
+                <Reference>SYNE1</Reference>
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+              <ExternalReference id="36661">
+                <Source>HGNC</Source>
+                <Reference>17089</Reference>
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+              <ExternalReference id="36662">
+                <Source>OMIM</Source>
+                <Reference>608441</Reference>
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+              <ExternalReference id="58017">
+                <Source>Reactome</Source>
+                <Reference>Q8NF91</Reference>
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+              <ExternalReference id="36663">
+                <Source>SwissProt</Source>
+                <Reference>Q8NF91</Reference>
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+            <LocusList count="1">
+              <Locus id="14913">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11816">
+      <OrphaCode>88637</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88637</ExpertLink>
+      <Name lang="en">Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>22855961[PMID]_22036172[PMID]</SourceOfValidation>
+          <Gene id="20642">
+            <Name lang="en">RNA polymerase III subunit B</Name>
+            <Symbol>POLR3B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C128</Synonym>
+              <Synonym lang="en">FLJ10388</Synonym>
+              <Synonym lang="en">RPC2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59522">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000013503</Reference>
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+              <ExternalReference id="54762">
+                <Source>Genatlas</Source>
+                <Reference>POLR3B</Reference>
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+              <ExternalReference id="54763">
+                <Source>HGNC</Source>
+                <Reference>30348</Reference>
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+              <ExternalReference id="69464">
+                <Source>OMIM</Source>
+                <Reference>614366</Reference>
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+              <ExternalReference id="59523">
+                <Source>Reactome</Source>
+                <Reference>Q9NW08</Reference>
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+              <ExternalReference id="54760">
+                <Source>SwissProt</Source>
+                <Reference>Q9NW08</Reference>
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+              <Locus id="11671">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26151409[PMID]</SourceOfValidation>
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+              <Synonym lang="en">RPA40</Synonym>
+              <Synonym lang="en">RPA5</Synonym>
+              <Synonym lang="en">RPAC1</Synonym>
+              <Synonym lang="en">RPC40</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57129">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171453</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>20194</Reference>
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+              <ExternalReference id="50146">
+                <Source>OMIM</Source>
+                <Reference>610060</Reference>
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+              <ExternalReference id="57130">
+                <Source>Reactome</Source>
+                <Reference>O15160</Reference>
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+              <ExternalReference id="50145">
+                <Source>SwissProt</Source>
+                <Reference>O15160</Reference>
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+                <GeneLocus>6p21.1</GeneLocus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21855841[PMID]_22855961[PMID]</SourceOfValidation>
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+            <Name lang="en">RNA polymerase III subunit A</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148606</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>POLR3A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30074</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614258</Reference>
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+              <ExternalReference id="59267">
+                <Source>Reactome</Source>
+                <Reference>O14802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O14802</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198130</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital insensitivity to pain-anosmia-neuropathic arthropathy</Name>
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+                <Source>Ensembl</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>584</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603415</Reference>
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+              <ExternalReference id="58130">
+                <Source>Reactome</Source>
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+              <Synonym lang="en">PN3</Synonym>
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+              <Synonym lang="en">peripheral nerve sodium channel 3</Synonym>
+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185313</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000168356</Reference>
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+                <Reference>10583</Reference>
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+                <Reference>586</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604385</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UI33</Reference>
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+                <Reference>Q9UI33</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
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+      <Name lang="en">Vacuolar myopathy with sarcoplasmic reticulum protein aggregates</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">calsequestrin 1</Name>
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+              <Synonym lang="en">PDIB1</Synonym>
+              <Synonym lang="en">calmitine</Synonym>
+              <Synonym lang="en">calsequestrin 1, fast-twitch, skeletal muscle</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="94860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143318</Reference>
+              </ExternalReference>
+              <ExternalReference id="94857">
+                <Source>Genatlas</Source>
+                <Reference>CASQ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="94855">
+                <Source>HGNC</Source>
+                <Reference>1512</Reference>
+              </ExternalReference>
+              <ExternalReference id="94856">
+                <Source>OMIM</Source>
+                <Reference>114250</Reference>
+              </ExternalReference>
+              <ExternalReference id="94859">
+                <Source>Reactome</Source>
+                <Reference>P31415</Reference>
+              </ExternalReference>
+              <ExternalReference id="94858">
+                <Source>SwissProt</Source>
+                <Reference>P31415</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22755">
+                <GeneLocus>1q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11808">
+      <OrphaCode>88621</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88621</ExpertLink>
+      <Name lang="en">Ichthyosis-prematurity syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19631310[PMID]</SourceOfValidation>
+          <Gene id="18599">
+            <Name lang="en">solute carrier family 27 member 4</Name>
+            <Symbol>SLC27A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ACSVL4</Synonym>
+              <Synonym lang="en">FATP4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59516">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167114</Reference>
+              </ExternalReference>
+              <ExternalReference id="42964">
+                <Source>Genatlas</Source>
+                <Reference>SLC27A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="42965">
+                <Source>HGNC</Source>
+                <Reference>10998</Reference>
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+              <ExternalReference id="42966">
+                <Source>OMIM</Source>
+                <Reference>604194</Reference>
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+              <ExternalReference id="59517">
+                <Source>Reactome</Source>
+                <Reference>Q6P1M0</Reference>
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+              <ExternalReference id="42967">
+                <Source>SwissProt</Source>
+                <Reference>Q6P1M0</Reference>
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+              <ExternalReference id="190460">
+                <Source>IUPHAR</Source>
+                <Reference>1111</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60329">
+                <GeneLocus>9q34.11</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11809">
+      <OrphaCode>88628</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88628</ExpertLink>
+      <Name lang="en">Posterior column ataxia-retinitis pigmentosa syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21267618[PMID]_20301317[PMID]</SourceOfValidation>
+          <Gene id="19502">
+            <Name lang="en">FLVCR heme transporter 1</Name>
+            <Symbol>FLVCR1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLVCR</Synonym>
+              <Synonym lang="en">MFSD7B</Synonym>
+              <Synonym lang="en">PCA</Synonym>
+              <Synonym lang="en">SLC49A1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="49877">
+                <Source>Genatlas</Source>
+                <Reference>FLVCR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="49878">
+                <Source>HGNC</Source>
+                <Reference>24682</Reference>
+              </ExternalReference>
+              <ExternalReference id="49879">
+                <Source>OMIM</Source>
+                <Reference>609144</Reference>
+              </ExternalReference>
+              <ExternalReference id="59519">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y0</Reference>
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+              <ExternalReference id="49880">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y0</Reference>
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+              <ExternalReference id="59518">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162769</Reference>
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+              <ExternalReference id="190439">
+                <Source>IUPHAR</Source>
+                <Reference>1910</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="60287">
+                <GeneLocus>1q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11810">
+      <OrphaCode>88629</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88629</ExpertLink>
+      <Name lang="en">Tritanopia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1531728[PMID]_1386496[PMID]</SourceOfValidation>
+          <Gene id="16594">
+            <Name lang="en">opsin 1, short wave sensitive</Name>
+            <Symbol>OPN1SW</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">'color blindness, tritan'</Synonym>
+              <Synonym lang="en">BOP</Synonym>
+              <Synonym lang="en">Blue-sensitive opsin</Synonym>
+              <Synonym lang="en">CBT</Synonym>
+              <Synonym lang="en">Color blindness, tritan</Synonym>
+              <Synonym lang="en">blue-sensitive opsin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190388">
+                <Source>IUPHAR</Source>
+                <Reference>2960</Reference>
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+              <ExternalReference id="59520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128617</Reference>
+              </ExternalReference>
+              <ExternalReference id="32036">
+                <Source>Genatlas</Source>
+                <Reference>OPN1SW</Reference>
+              </ExternalReference>
+              <ExternalReference id="32034">
+                <Source>HGNC</Source>
+                <Reference>1012</Reference>
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+              <ExternalReference id="46978">
+                <Source>OMIM</Source>
+                <Reference>613522</Reference>
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+              <ExternalReference id="59521">
+                <Source>Reactome</Source>
+                <Reference>P03999</Reference>
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+              <ExternalReference id="33659">
+                <Source>SwissProt</Source>
+                <Reference>P03999</Reference>
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+            <LocusList count="1">
+              <Locus id="60185">
+                <GeneLocus>7q32.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11811">
+      <OrphaCode>88630</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88630</ExpertLink>
+      <Name lang="en">Terminal osseous dysplasia-pigmentary defects syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20598277[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+              <ExternalReference id="29504">
+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+                <GeneLocus>Xq28</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11807">
+      <OrphaCode>88620</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88620</ExpertLink>
+      <Name lang="en">Isolated congenital anosmia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>27040985[PMID]</SourceOfValidation>
+          <Gene id="25291">
+            <Name lang="en">teneurin transmembrane protein 1</Name>
+            <Symbol>TENM1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEN-M1</Synonym>
+              <Synonym lang="en">TEN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>8117</Reference>
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+              <ExternalReference id="138547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009694</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300588</Reference>
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+              <ExternalReference id="138549">
+                <Source>Genatlas</Source>
+                <Reference>TENM1</Reference>
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+              <ExternalReference id="143458">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKZ4</Reference>
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+              <Locus id="38621">
+                <GeneLocus>Xq25</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25156905[PMID]</SourceOfValidation>
+          <Gene id="23418">
+            <Name lang="en">cyclic nucleotide gated channel subunit alpha 2</Name>
+            <Symbol>CNGA2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CNG2</Synonym>
+              <Synonym lang="en">FLJ46312</Synonym>
+              <Synonym lang="en">OCNC1</Synonym>
+              <Synonym lang="en">OCNCALPHA</Synonym>
+              <Synonym lang="en">OCNCa</Synonym>
+              <Synonym lang="en">OCNCalpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="96710">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183862</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CNGA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2149</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>395</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300338</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q16280</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16280</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11806">
+      <OrphaCode>88619</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88619</ExpertLink>
+      <Name lang="en">Familial acute necrotizing encephalopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19807769[PMID]_19811512[PMID]</SourceOfValidation>
+          <Gene id="17981">
+            <Name lang="en">RAN binding protein 2</Name>
+            <Symbol>RANBP2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ADANE</Synonym>
+              <Synonym lang="en">NUP358</Synonym>
+              <Synonym lang="en">nucleoporin 358</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59514">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153201</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RANBP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9848</Reference>
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+              <ExternalReference id="40604">
+                <Source>OMIM</Source>
+                <Reference>601181</Reference>
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+              <ExternalReference id="59515">
+                <Source>Reactome</Source>
+                <Reference>P49792</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49792</Reference>
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+                <GeneLocus>2q13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11805">
+      <OrphaCode>88618</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88618</ExpertLink>
+      <Name lang="en">S-adenosylhomocysteine hydrolase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15477">
+            <Name lang="en">adenosylhomocysteinase</Name>
+            <Symbol>AHCY</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SAHH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101444</Reference>
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+              <ExternalReference id="26717">
+                <Source>Genatlas</Source>
+                <Reference>AHCY</Reference>
+              </ExternalReference>
+              <ExternalReference id="26715">
+                <Source>HGNC</Source>
+                <Reference>343</Reference>
+              </ExternalReference>
+              <ExternalReference id="26714">
+                <Source>OMIM</Source>
+                <Reference>180960</Reference>
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+              <ExternalReference id="59513">
+                <Source>Reactome</Source>
+                <Reference>P23526</Reference>
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+              <ExternalReference id="32448">
+                <Source>SwissProt</Source>
+                <Reference>P23526</Reference>
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+              <ExternalReference id="193672">
+                <Source>IUPHAR</Source>
+                <Reference>1233</Reference>
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+              <Locus id="66753">
+                <GeneLocus>20q11.22</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11804">
+      <OrphaCode>88616</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88616</ExpertLink>
+      <Name lang="en">Autosomal recessive non-syndromic intellectual disability</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="55">
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+          <SourceOfValidation>25701870[PMID]</SourceOfValidation>
+          <Gene id="23701">
+            <Name lang="en">decapping enzyme, scavenger</Name>
+            <Symbol>DCPS</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase</Synonym>
+              <Synonym lang="en">HINT-5</Synonym>
+              <Synonym lang="en">HINT5</Synonym>
+              <Synonym lang="en">HSL1</Synonym>
+              <Synonym lang="en">HSPC015</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Reference>29812</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610534</Reference>
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+              <ExternalReference id="100937">
+                <Source>Genatlas</Source>
+                <Reference>DCPS</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96C86</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q96C86</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110063</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29273094[PMID]</SourceOfValidation>
+          <Gene id="21973">
+            <Name lang="en">beta-1,3-N-acetylgalactosaminyltransferase 2</Name>
+            <Symbol>B3GALNT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC39558</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8NCR0</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162885</Reference>
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+              <ExternalReference id="78209">
+                <Source>Genatlas</Source>
+                <Reference>B3GALNT2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28596</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610194</Reference>
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+                <Reference>Q8NCR0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26416544[PMID]</SourceOfValidation>
+          <Gene id="31536">
+            <Name lang="en">inositol monophosphatase 1</Name>
+            <Symbol>IMPA1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133731</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P29218</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29302074[PMID]</SourceOfValidation>
+          <Gene id="31538">
+            <Name lang="en">ATP binding cassette subfamily A member 2</Name>
+            <Symbol>ABCA2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107331</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BZC7</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600047</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>757</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>35202461[PMID]</SourceOfValidation>
+          <Gene id="31601">
+            <Name lang="en">choline kinase alpha</Name>
+            <Symbol>CHKA</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>35675825[PMID]</SourceOfValidation>
+          <Gene id="28185">
+            <Name lang="en">glutamate ionotropic receptor AMPA type subunit 1</Name>
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+              <Synonym lang="en">GLURA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155511</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32006098[PMID]</SourceOfValidation>
+          <Gene id="31554">
+            <Name lang="en">Yip1 interacting factor homolog B, membrane trafficking protein</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26173967[PMID]</SourceOfValidation>
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+            <Name lang="en">aminoacyl tRNA synthetase complex interacting multifunctional protein 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136051</Reference>
+              </ExternalReference>
+              <ExternalReference id="52295">
+                <Source>Genatlas</Source>
+                <Reference>KIAA1033</Reference>
+              </ExternalReference>
+              <ExternalReference id="52294">
+                <Source>HGNC</Source>
+                <Reference>29174</Reference>
+              </ExternalReference>
+              <ExternalReference id="89565">
+                <Source>OMIM</Source>
+                <Reference>615748</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="27049">
+                <GeneLocus>12q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20004765[PMID]_20004763[PMID]_20004765[PMID]</SourceOfValidation>
+          <Gene id="18894">
+            <Name lang="en">trafficking protein particle complex subunit 9</Name>
+            <Symbol>TRAPPC9</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">IKBKBBP</Synonym>
+              <Synonym lang="en">KIAA1882</Synonym>
+              <Synonym lang="en">MRT13</Synonym>
+              <Synonym lang="en">NIBP</Synonym>
+              <Synonym lang="en">T1</Synonym>
+              <Synonym lang="en">TRAPP 120 kDa subunit</Synonym>
+              <Synonym lang="en">TRS120</Synonym>
+              <Synonym lang="en">tularik gene 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59504">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167632</Reference>
+              </ExternalReference>
+              <ExternalReference id="43713">
+                <Source>Genatlas</Source>
+                <Reference>TRAPPC9</Reference>
+              </ExternalReference>
+              <ExternalReference id="43714">
+                <Source>HGNC</Source>
+                <Reference>30832</Reference>
+              </ExternalReference>
+              <ExternalReference id="43715">
+                <Source>OMIM</Source>
+                <Reference>611966</Reference>
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+              <ExternalReference id="97285">
+                <Source>Reactome</Source>
+                <Reference>Q96Q05</Reference>
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+              <ExternalReference id="43716">
+                <Source>SwissProt</Source>
+                <Reference>Q96Q05</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16817">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12459588[PMID]</SourceOfValidation>
+          <Gene id="15156">
+            <Name lang="en">serine protease 12</Name>
+            <Symbol>PRSS12</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">'mental retardation, autosomal recessive 1'</Synonym>
+              <Synonym lang="en">BSSP-3</Synonym>
+              <Synonym lang="en">MRT1</Synonym>
+              <Synonym lang="en">brain-specific serine protease 3</Synonym>
+              <Synonym lang="en">motopsin</Synonym>
+              <Synonym lang="en">neurotrypsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59501">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164099</Reference>
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+              <ExternalReference id="25175">
+                <Source>Genatlas</Source>
+                <Reference>PRSS12</Reference>
+              </ExternalReference>
+              <ExternalReference id="25177">
+                <Source>HGNC</Source>
+                <Reference>9477</Reference>
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+              <ExternalReference id="25176">
+                <Source>OMIM</Source>
+                <Reference>606709</Reference>
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+              <ExternalReference id="33267">
+                <Source>SwissProt</Source>
+                <Reference>P56730</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q26</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21868677[PMID]</SourceOfValidation>
+          <Gene id="20402">
+            <Name lang="en">mediator complex subunit 23</Name>
+            <Symbol>MED23</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CRSP130</Synonym>
+              <Synonym lang="en">DRIP130</Synonym>
+              <Synonym lang="en">Sur2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59499">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112282</Reference>
+              </ExternalReference>
+              <ExternalReference id="53958">
+                <Source>Genatlas</Source>
+                <Reference>MED23</Reference>
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+              <ExternalReference id="53955">
+                <Source>HGNC</Source>
+                <Reference>2372</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605042</Reference>
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+              <ExternalReference id="59500">
+                <Source>Reactome</Source>
+                <Reference>Q9ULK4</Reference>
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+              <ExternalReference id="53957">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULK4</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>6q23.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21907012[PMID]</SourceOfValidation>
+          <Gene id="20650">
+            <Name lang="en">ST3 beta-galactoside alpha-2,3-sialyltransferase 3</Name>
+            <Symbol>ST3GAL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">'N-acetyllactosaminide alpha-2,3-sialyltransferase'</Synonym>
+              <Synonym lang="en">ST3Gal III</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59502">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126091</Reference>
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+              <ExternalReference id="54804">
+                <Source>Genatlas</Source>
+                <Reference>ST3GAL3</Reference>
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+              <ExternalReference id="54805">
+                <Source>HGNC</Source>
+                <Reference>10866</Reference>
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+              <ExternalReference id="54806">
+                <Source>OMIM</Source>
+                <Reference>606494</Reference>
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+              <ExternalReference id="59503">
+                <Source>Reactome</Source>
+                <Reference>Q11203</Reference>
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+              <ExternalReference id="54807">
+                <Source>SwissProt</Source>
+                <Reference>Q11203</Reference>
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+                <GeneLocus>1p34.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22279524[PMID]</SourceOfValidation>
+          <Gene id="21180">
+            <Name lang="en">CASP2 and RIPK1 domain containing adaptor with death domain</Name>
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+              <Synonym lang="en">RIP-associated ICH1/CED3-homologous protein with death domain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P78560</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P78560</Reference>
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+              <ExternalReference id="83412">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169372</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CRADD</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2340</Reference>
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+                <Source>OMIM</Source>
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+                <GeneLocus>12q22</GeneLocus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21734151[PMID]</SourceOfValidation>
+          <Gene id="20665">
+            <Name lang="en">zinc finger CCCH-type containing 14</Name>
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+              <Synonym lang="en">FLJ11806</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100722</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22541559[PMID]_22541562[PMID]</SourceOfValidation>
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+            <Name lang="en">NOP2/Sun RNA methyltransferase 2</Name>
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+              <Synonym lang="en">FLJ20303</Synonym>
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+              <Synonym lang="en">Myc-induced SUN-domain-containing protein</Synonym>
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+              <Synonym lang="en">tRNA methyltransferase 4 homolog (S. cerevisiae)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">lines homolog 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24784135[PMID]</SourceOfValidation>
+          <Gene id="22902">
+            <Name lang="en">post-GPI attachment to proteins inositol deacylase 1</Name>
+            <Symbol>PGAP1</Symbol>
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+              <Synonym lang="en">GPI inositol-deacylase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">methyltransferase like 23</Name>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">CAP-Gly domain containing linker protein 1</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24623383[PMID]</SourceOfValidation>
+          <Gene id="23004">
+            <Name lang="en">F-box protein 31</Name>
+            <Symbol>FBXO31</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103264</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16510</Reference>
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+              <ExternalReference id="94539">
+                <Source>OMIM</Source>
+                <Reference>609102</Reference>
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+              <ExternalReference id="94541">
+                <Source>SwissProt</Source>
+                <Reference>Q5XUX0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24683">
+                <GeneLocus>16q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25125150[PMID]</SourceOfValidation>
+          <Gene id="23074">
+            <Name lang="en">N-deacetylase and N-sulfotransferase 1</Name>
+            <Symbol>NDST1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">N-Deacetylase-N-sulfotransferase 1</Synonym>
+              <Synonym lang="en">NST1</Synonym>
+              <Synonym lang="en">[Heparan sulfate]-glucosamine N-sulfotransferase 1</Synonym>
+              <Synonym lang="en">heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="94961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070614</Reference>
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+              <ExternalReference id="94958">
+                <Source>Genatlas</Source>
+                <Reference>NDST1</Reference>
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+              <ExternalReference id="94956">
+                <Source>HGNC</Source>
+                <Reference>7680</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600853</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P52848</Reference>
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+              <ExternalReference id="94959">
+                <Source>SwissProt</Source>
+                <Reference>P52848</Reference>
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+                <GeneLocus>5q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25480035[PMID]</SourceOfValidation>
+          <Gene id="23100">
+            <Name lang="en">formin 2</Name>
+            <Symbol>FMN2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155816</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>14074</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606373</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZ56</Reference>
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+                <GeneLocus>1q43</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25701870[PMID]</SourceOfValidation>
+          <Gene id="23279">
+            <Name lang="en">enhancer of mRNA decapping 3</Name>
+            <Symbol>EDC3</Symbol>
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+              <Synonym lang="en">FLJ21128</Synonym>
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+              <Synonym lang="en">LSM16 homolog (EDC3, S. cerevisiae)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95983">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179151</Reference>
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+              <ExternalReference id="95980">
+                <Source>Genatlas</Source>
+                <Reference>EDC3</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>609842</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26206890[PMID]</SourceOfValidation>
+          <Gene id="23575">
+            <Name lang="en">histamine N-methyltransferase</Name>
+            <Symbol>HNMT</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>605238</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150540</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25504542[PMID]</SourceOfValidation>
+          <Gene id="23599">
+            <Name lang="en">ezrin</Name>
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+              <Synonym lang="en">cytovillin 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">lectin, mannose binding 2 like</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Locus id="81185">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27694521[PMID]</SourceOfValidation>
+          <Gene id="25460">
+            <Name lang="en">phosphatidylinositol glycan anchor biosynthesis class C</Name>
+            <Symbol>PIGC</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144449">
+                <Source>HGNC</Source>
+                <Reference>8960</Reference>
+              </ExternalReference>
+              <ExternalReference id="144450">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135845</Reference>
+              </ExternalReference>
+              <ExternalReference id="144451">
+                <Source>SwissProt</Source>
+                <Reference>Q92535</Reference>
+              </ExternalReference>
+              <ExternalReference id="144452">
+                <Source>OMIM</Source>
+                <Reference>601730</Reference>
+              </ExternalReference>
+              <ExternalReference id="144453">
+                <Source>Genatlas</Source>
+                <Reference>PIGC</Reference>
+              </ExternalReference>
+              <ExternalReference id="144454">
+                <Source>Reactome</Source>
+                <Reference>Q92535</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40165">
+                <GeneLocus>1q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28434495[PMID]</SourceOfValidation>
+          <Gene id="25465">
+            <Name lang="en">solute carrier family 45 member 1</Name>
+            <Symbol>SLC45A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">H+/sugar symporter</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190741">
+                <Source>IUPHAR</Source>
+                <Reference>1209</Reference>
+              </ExternalReference>
+              <ExternalReference id="144476">
+                <Source>HGNC</Source>
+                <Reference>17939</Reference>
+              </ExternalReference>
+              <ExternalReference id="144477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162426</Reference>
+              </ExternalReference>
+              <ExternalReference id="144478">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2W3</Reference>
+              </ExternalReference>
+              <ExternalReference id="144479">
+                <Source>OMIM</Source>
+                <Reference>605763</Reference>
+              </ExternalReference>
+              <ExternalReference id="144480">
+                <Source>Genatlas</Source>
+                <Reference>SLC45A1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60891">
+                <GeneLocus>1p36.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33963192[PMID]</SourceOfValidation>
+          <Gene id="31557">
+            <Name lang="en">gem nuclear organelle associated protein 5</Name>
+            <Symbol>GEMIN5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="208956">
+                <Source>OMIM</Source>
+                <Reference>607005</Reference>
+              </ExternalReference>
+              <ExternalReference id="208957">
+                <Source>SwissProt</Source>
+                <Reference>Q8TEQ6</Reference>
+              </ExternalReference>
+              <ExternalReference id="208955">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082516</Reference>
+              </ExternalReference>
+              <ExternalReference id="207763">
+                <Source>HGNC</Source>
+                <Reference>20043</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88627">
+                <GeneLocus>5q33.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28675162[PMID]</SourceOfValidation>
+          <Gene id="25818">
+            <Name lang="en">ferric chelate reductase 1 like</Name>
+            <Symbol>FRRS1L</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CG-6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="147488">
+                <Source>OMIM</Source>
+                <Reference>604574</Reference>
+              </ExternalReference>
+              <ExternalReference id="147489">
+                <Source>Genatlas</Source>
+                <Reference>FRRS1L</Reference>
+              </ExternalReference>
+              <ExternalReference id="147485">
+                <Source>HGNC</Source>
+                <Reference>1362</Reference>
+              </ExternalReference>
+              <ExternalReference id="147486">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000260230</Reference>
+              </ExternalReference>
+              <ExternalReference id="147487">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0K9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42309">
+                <GeneLocus>9q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31079898[PMID]</SourceOfValidation>
+          <Gene id="28616">
+            <Name lang="en">alkB homolog 8, tRNA methyltransferase</Name>
+            <Symbol>ALKBH8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MGC10235</Synonym>
+              <Synonym lang="en">TRM9</Synonym>
+              <Synonym lang="en">TRMT9A</Synonym>
+              <Synonym lang="en">tRNA methyltransferase 9 related</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189470">
+                <Source>HGNC</Source>
+                <Reference>25189</Reference>
+              </ExternalReference>
+              <ExternalReference id="200535">
+                <Source>SwissProt</Source>
+                <Reference>Q96BT7</Reference>
+              </ExternalReference>
+              <ExternalReference id="190813">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137760</Reference>
+              </ExternalReference>
+              <ExternalReference id="190814">
+                <Source>OMIM</Source>
+                <Reference>613306</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80045">
+                <GeneLocus>11q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27616480[PMID]</SourceOfValidation>
+          <Gene id="25095">
+            <Name lang="en">membrane bound O-acyltransferase domain containing 7</Name>
+            <Symbol>MBOAT7</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BB1</Synonym>
+              <Synonym lang="en">LPIAT</Synonym>
+              <Synonym lang="en">LPLAT</Synonym>
+              <Synonym lang="en">hMBOA-7</Synonym>
+              <Synonym lang="en">lysophosphatidylinositol acyltransferase</Synonym>
+              <Synonym lang="en">lysophospholipid acyltransferase 7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="134866">
+                <Source>HGNC</Source>
+                <Reference>15505</Reference>
+              </ExternalReference>
+              <ExternalReference id="134869">
+                <Source>SwissProt</Source>
+                <Reference>Q96N66</Reference>
+              </ExternalReference>
+              <ExternalReference id="134870">
+                <Source>Reactome</Source>
+                <Reference>Q96N66</Reference>
+              </ExternalReference>
+              <ExternalReference id="134871">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125505</Reference>
+              </ExternalReference>
+              <ExternalReference id="134867">
+                <Source>OMIM</Source>
+                <Reference>606048</Reference>
+              </ExternalReference>
+              <ExternalReference id="134868">
+                <Source>Genatlas</Source>
+                <Reference>MBOAT7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35729">
+                <GeneLocus>19q13.42</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27311568[PMID]</SourceOfValidation>
+          <Gene id="25339">
+            <Name lang="en">chromosome 12 open reading frame 4</Name>
+            <Symbol>C12ORF4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="141483">
+                <Source>HGNC</Source>
+                <Reference>1184</Reference>
+              </ExternalReference>
+              <ExternalReference id="141484">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000047621</Reference>
+              </ExternalReference>
+              <ExternalReference id="141485">
+                <Source>OMIM</Source>
+                <Reference>616082</Reference>
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+              <ExternalReference id="141486">
+                <Source>SwissProt</Source>
+                <Reference>Q9NQ89</Reference>
+              </ExternalReference>
+              <ExternalReference id="141487">
+                <Source>Genatlas</Source>
+                <Reference>C12orf4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37063">
+                <GeneLocus>12p13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28236339[PMID]</SourceOfValidation>
+          <Gene id="25442">
+            <Name lang="en">seryl-tRNA synthetase 1</Name>
+            <Symbol>SARS1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SERS</Synonym>
+              <Synonym lang="en">serine tRNA ligase 1, cytoplasmic</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="144344">
+                <Source>HGNC</Source>
+                <Reference>10537</Reference>
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+              <ExternalReference id="144345">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000031698</Reference>
+              </ExternalReference>
+              <ExternalReference id="144346">
+                <Source>SwissProt</Source>
+                <Reference>P49591</Reference>
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+              <ExternalReference id="144347">
+                <Source>OMIM</Source>
+                <Reference>607529</Reference>
+              </ExternalReference>
+              <ExternalReference id="144348">
+                <Source>Genatlas</Source>
+                <Reference>SARS</Reference>
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+              <ExternalReference id="144349">
+                <Source>Reactome</Source>
+                <Reference>P49591</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="40063">
+                <GeneLocus>1p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28640246[PMID]_29522154[PMID]</SourceOfValidation>
+          <Gene id="28058">
+            <Name lang="en">arginine and serine rich coiled-coil 1</Name>
+            <Symbol>RSRC1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BM-011</Synonym>
+              <Synonym lang="en">MGC12197</Synonym>
+              <Synonym lang="en">SFRS21</Synonym>
+              <Synonym lang="en">SRrp53</Synonym>
+              <Synonym lang="en">splicing factor, arginine/serine-rich 21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="163011">
+                <Source>SwissProt</Source>
+                <Reference>Q96IZ7</Reference>
+              </ExternalReference>
+              <ExternalReference id="163009">
+                <Source>HGNC</Source>
+                <Reference>24152</Reference>
+              </ExternalReference>
+              <ExternalReference id="163010">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174891</Reference>
+              </ExternalReference>
+              <ExternalReference id="163012">
+                <Source>OMIM</Source>
+                <Reference>613352</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51497">
+                <GeneLocus>3q25.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25527630[PMID]</SourceOfValidation>
+          <Gene id="17685">
+            <Name lang="en">mediator complex subunit 25</Name>
+            <Symbol>MED25</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ACID1</Synonym>
+              <Synonym lang="en">ARC92</Synonym>
+              <Synonym lang="en">DKFZp434K0512</Synonym>
+              <Synonym lang="en">TCBAP0758</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60031">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104973</Reference>
+              </ExternalReference>
+              <ExternalReference id="39057">
+                <Source>Genatlas</Source>
+                <Reference>MED25</Reference>
+              </ExternalReference>
+              <ExternalReference id="39058">
+                <Source>HGNC</Source>
+                <Reference>28845</Reference>
+              </ExternalReference>
+              <ExternalReference id="39059">
+                <Source>OMIM</Source>
+                <Reference>610197</Reference>
+              </ExternalReference>
+              <ExternalReference id="60032">
+                <Source>Reactome</Source>
+                <Reference>Q71SY5</Reference>
+              </ExternalReference>
+              <ExternalReference id="46824">
+                <Source>SwissProt</Source>
+                <Reference>Q71SY5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66777">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34230638[PMID]</SourceOfValidation>
+          <Gene id="31364">
+            <Name lang="en">N-alpha-acetyltransferase 20, NatB catalytic subunit</Name>
+            <Symbol>NAA20</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="205325">
+                <Source>HGNC</Source>
+                <Reference>15908</Reference>
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+              <ExternalReference id="205741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173418</Reference>
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+              <ExternalReference id="205742">
+                <Source>OMIM</Source>
+                <Reference>610833</Reference>
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+              <ExternalReference id="205743">
+                <Source>SwissProt</Source>
+                <Reference>P61599</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88189">
+                <GeneLocus>20p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16033914[PMID]</SourceOfValidation>
+          <Gene id="15405">
+            <Name lang="en">coiled-coil and C2 domain containing 1A</Name>
+            <Symbol>CC2D1A</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">Aki-1</Synonym>
+              <Synonym lang="en">FLJ20241</Synonym>
+              <Synonym lang="en">Freud-1</Synonym>
+              <Synonym lang="en">Lgd2</Synonym>
+              <Synonym lang="en">MRT3</Synonym>
+              <Synonym lang="en">TAPE</Synonym>
+              <Synonym lang="en">TBK1-associated protein in endolysosomes</Synonym>
+              <Synonym lang="en">mental retardation, nonsyndromic, autosomal recessive, 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132024</Reference>
+              </ExternalReference>
+              <ExternalReference id="26365">
+                <Source>Genatlas</Source>
+                <Reference>CC2D1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="26363">
+                <Source>HGNC</Source>
+                <Reference>30237</Reference>
+              </ExternalReference>
+              <ExternalReference id="26362">
+                <Source>OMIM</Source>
+                <Reference>610055</Reference>
+              </ExternalReference>
+              <ExternalReference id="32373">
+                <Source>SwissProt</Source>
+                <Reference>Q6P1N0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7353">
+                <GeneLocus>19p13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21763484[PMID]</SourceOfValidation>
+          <Gene id="20401">
+            <Name lang="en">mannosidase alpha class 1B member 1</Name>
+            <Symbol>MAN1B1</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">'alpha 1,2-mannosidase'</Synonym>
+              <Synonym lang="en">'endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1'</Synonym>
+              <Synonym lang="en">Alpha 1,2-mannosidase</Synonym>
+              <Synonym lang="en">ER alpha 1,2-mannosidase</Synonym>
+              <Synonym lang="en">ERManI</Synonym>
+              <Synonym lang="en">Endoplasmic reticulum alpha-mannosidase 1</Synonym>
+              <Synonym lang="en">Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1</Synonym>
+              <Synonym lang="en">MANA-ER</Synonym>
+              <Synonym lang="en">MRT15</Synonym>
+              <Synonym lang="en">Man9GlcNAc2-specific processing alpha-mannosidase</Synonym>
+              <Synonym lang="en">endoplasmic Reticulum Class I alpha-mannosidase</Synonym>
+              <Synonym lang="en">endoplasmic reticulum alpha-mannosidase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>ENSG00000177239</Reference>
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+                <Reference>Q9UGL1</Reference>
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+            <Name lang="en">eukaryotic translation elongation factor 1 beta 2</Name>
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+      <Name lang="en">Mal de Meleda</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">LY6LS</Synonym>
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+              <Synonym lang="en">lymphocyte antigen 6-like secreted</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="27332">
+      <OrphaCode>521445</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521445</ExpertLink>
+      <Name lang="en">Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28722276[PMID]</SourceOfValidation>
+          <Gene id="27524">
+            <Name lang="en">ADAMTS like 1</Name>
+            <Symbol>ADAMTSL1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ADAMTSR1</Synonym>
+              <Synonym lang="en">FLJ35283</Synonym>
+              <Synonym lang="en">punctin</Synonym>
+              <Synonym lang="en">punctin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="160253">
+                <Source>HGNC</Source>
+                <Reference>14632</Reference>
+              </ExternalReference>
+              <ExternalReference id="160254">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178031</Reference>
+              </ExternalReference>
+              <ExternalReference id="160255">
+                <Source>SwissProt</Source>
+                <Reference>Q8N6G6</Reference>
+              </ExternalReference>
+              <ExternalReference id="160256">
+                <Source>Reactome</Source>
+                <Reference>Q8N6G6</Reference>
+              </ExternalReference>
+              <ExternalReference id="160257">
+                <Source>OMIM</Source>
+                <Reference>609198</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="49579">
+                <GeneLocus>9p22.2-p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="27331">
+      <OrphaCode>521438</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521438</ExpertLink>
+      <Name lang="en">Congenital vertebral-cardiac-renal anomalies syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28792876[PMID]</SourceOfValidation>
+          <Gene id="17733">
+            <Name lang="en">kynureninase</Name>
+            <Symbol>KYNU</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">L-kynurenine hydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59305">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115919</Reference>
+              </ExternalReference>
+              <ExternalReference id="39292">
+                <Source>Genatlas</Source>
+                <Reference>KYNU</Reference>
+              </ExternalReference>
+              <ExternalReference id="39293">
+                <Source>HGNC</Source>
+                <Reference>6469</Reference>
+              </ExternalReference>
+              <ExternalReference id="39294">
+                <Source>OMIM</Source>
+                <Reference>605197</Reference>
+              </ExternalReference>
+              <ExternalReference id="59306">
+                <Source>Reactome</Source>
+                <Reference>Q16719</Reference>
+              </ExternalReference>
+              <ExternalReference id="39295">
+                <Source>SwissProt</Source>
+                <Reference>Q16719</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10393">
+                <GeneLocus>2q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31883644[PMID]</SourceOfValidation>
+          <Gene id="29284">
+            <Name lang="en">NAD synthetase 1</Name>
+            <Symbol>NADSYN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ10631</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="184299">
+                <Source>HGNC</Source>
+                <Reference>29832</Reference>
+              </ExternalReference>
+              <ExternalReference id="184300">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172890</Reference>
+              </ExternalReference>
+              <ExternalReference id="184301">
+                <Source>SwissProt</Source>
+                <Reference>Q6IA69</Reference>
+              </ExternalReference>
+              <ExternalReference id="184302">
+                <Source>Reactome</Source>
+                <Reference>Q6IA69</Reference>
+              </ExternalReference>
+              <ExternalReference id="184303">
+                <Source>OMIM</Source>
+                <Reference>608285</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="55471">
+                <GeneLocus>11q13.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28792876[PMID]</SourceOfValidation>
+          <Gene id="27520">
+            <Name lang="en">3-hydroxyanthranilate 3,4-dioxygenase</Name>
+            <Symbol>HAAO</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="160213">
+                <Source>HGNC</Source>
+                <Reference>4796</Reference>
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+              <ExternalReference id="160214">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162882</Reference>
+              </ExternalReference>
+              <ExternalReference id="160215">
+                <Source>SwissProt</Source>
+                <Reference>P46952</Reference>
+              </ExternalReference>
+              <ExternalReference id="160216">
+                <Source>Reactome</Source>
+                <Reference>P46952</Reference>
+              </ExternalReference>
+              <ExternalReference id="160217">
+                <Source>OMIM</Source>
+                <Reference>604521</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="27330">
+      <OrphaCode>521432</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521432</ExpertLink>
+      <Name lang="en">Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27878435[PMID]</SourceOfValidation>
+          <Gene id="27521">
+            <Name lang="en">cytochrome P450 family 51 subfamily A member 1</Name>
+            <Symbol>CYP51A1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CP51</Synonym>
+              <Synonym lang="en">CYPL1</Synonym>
+              <Synonym lang="en">LDM</Synonym>
+              <Synonym lang="en">P450-14DM</Synonym>
+              <Synonym lang="en">P450L1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="160235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000001630</Reference>
+              </ExternalReference>
+              <ExternalReference id="160236">
+                <Source>SwissProt</Source>
+                <Reference>Q16850</Reference>
+              </ExternalReference>
+              <ExternalReference id="160237">
+                <Source>OMIM</Source>
+                <Reference>601637</Reference>
+              </ExternalReference>
+              <ExternalReference id="160234">
+                <Source>HGNC</Source>
+                <Reference>2649</Reference>
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+              <ExternalReference id="190887">
+                <Source>IUPHAR</Source>
+                <Reference>1374</Reference>
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+              <ExternalReference id="160238">
+                <Source>Reactome</Source>
+                <Reference>Q16850</Reference>
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+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="27329">
+      <OrphaCode>521426</OrphaCode>
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+      <Name lang="en">PLAA-associated neurodevelopmental disorder</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28007986[PMID]_28413018[PMID]</SourceOfValidation>
+          <Gene id="27264">
+            <Name lang="en">phospholipase A2 activating protein</Name>
+            <Symbol>PLAA</Symbol>
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+              <Synonym lang="en">DOA1</Synonym>
+              <Synonym lang="en">DOA1 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">FLJ11281</Synonym>
+              <Synonym lang="en">FLJ12699</Synonym>
+              <Synonym lang="en">PLA2P</Synonym>
+              <Synonym lang="en">PLAP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="159026">
+                <Source>HGNC</Source>
+                <Reference>9043</Reference>
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+              <ExternalReference id="200560">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y263</Reference>
+              </ExternalReference>
+              <ExternalReference id="162613">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137055</Reference>
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+              <ExternalReference id="190874">
+                <Source>OMIM</Source>
+                <Reference>603873</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>521414</OrphaCode>
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+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2DD</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="22408">
+            <Name lang="en">ATPase Na+/K+ transporting subunit alpha 1</Name>
+            <Symbol>ATP1A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">sodium pump subunit alpha-1</Synonym>
+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-1</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="88004">
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+                <Reference>833</Reference>
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+              <ExternalReference id="82044">
+                <Source>OMIM</Source>
+                <Reference>182310</Reference>
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+              <ExternalReference id="84027">
+                <Source>Reactome</Source>
+                <Reference>P05023</Reference>
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+              <ExternalReference id="82046">
+                <Source>SwissProt</Source>
+                <Reference>P05023</Reference>
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+              <ExternalReference id="84028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163399</Reference>
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+              <ExternalReference id="82045">
+                <Source>Genatlas</Source>
+                <Reference>ATP1A1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>799</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521258</ExpertLink>
+      <Name lang="en">Xq25 microduplication syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25677961[PMID]_26443594[PMID]</SourceOfValidation>
+          <Gene id="24951">
+            <Name lang="en">stromal antigen 2</Name>
+            <Symbol>STAG2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">SA-2</Synonym>
+              <Synonym lang="en">SA2</Synonym>
+              <Synonym lang="en">SCC3B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="142913">
+                <Source>Genatlas</Source>
+                <Reference>STAG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="132491">
+                <Source>OMIM</Source>
+                <Reference>300826</Reference>
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+              <ExternalReference id="133215">
+                <Source>SwissProt</Source>
+                <Reference>Q8N3U4</Reference>
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+              <ExternalReference id="133945">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101972</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N3U4</Reference>
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+                <Reference>11355</Reference>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
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+      <Name lang="en">Proximal myopathy with focal depletion of mitochondria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26782016[PMID]_27169979[PMID]</SourceOfValidation>
+          <Gene id="20496">
+            <Name lang="en">choline kinase beta</Name>
+            <Symbol>CHKB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CHETK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100288</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CHKB</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1938</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">kinase D interacting substrate 220</Name>
+            <Symbol>KIDINS220</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ARMS</Synonym>
+              <Synonym lang="en">ankyrin repeat-rich membrane-spanning protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>KIDINS220</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29508</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULH0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULH0</Reference>
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+                <Reference>615759</Reference>
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+              <ExternalReference id="134135">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134313</Reference>
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+              <Locus id="37929">
+                <GeneLocus>2p25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="27325">
+      <OrphaCode>521399</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521399</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Non rare obesity</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24209692[PMID]_25407540[PMID]</SourceOfValidation>
+          <Gene id="27529">
+            <Name lang="en">kinase suppressor of ras 2</Name>
+            <Symbol>KSR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ25965</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="160275">
+                <Source>HGNC</Source>
+                <Reference>18610</Reference>
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+              <ExternalReference id="160276">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171435</Reference>
+              </ExternalReference>
+              <ExternalReference id="160277">
+                <Source>SwissProt</Source>
+                <Reference>Q6VAB6</Reference>
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+              <ExternalReference id="160278">
+                <Source>Reactome</Source>
+                <Reference>Q6VAB6</Reference>
+              </ExternalReference>
+              <ExternalReference id="160279">
+                <Source>OMIM</Source>
+                <Reference>610737</Reference>
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+              <ExternalReference id="162580">
+                <Source>IUPHAR</Source>
+                <Reference>2052</Reference>
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+            <LocusList count="1">
+              <Locus id="50695">
+                <GeneLocus>12q24.22-q24.23</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="27326">
+      <OrphaCode>521406</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521406</ExpertLink>
+      <Name lang="en">Dystonia-parkinsonism-hypermanganesemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>29382362[PMID]_29685658[PMID]_27231142[PMID]</SourceOfValidation>
+          <Gene id="27526">
+            <Name lang="en">solute carrier family 39 member 14</Name>
+            <Symbol>SLC39A14</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0062</Synonym>
+              <Synonym lang="en">NET34</Synonym>
+              <Synonym lang="en">ZIP14</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="160262">
+                <Source>HGNC</Source>
+                <Reference>20858</Reference>
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+              <ExternalReference id="160263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104635</Reference>
+              </ExternalReference>
+              <ExternalReference id="160264">
+                <Source>SwissProt</Source>
+                <Reference>Q15043</Reference>
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+              <ExternalReference id="160265">
+                <Source>Reactome</Source>
+                <Reference>Q15043</Reference>
+              </ExternalReference>
+              <ExternalReference id="160266">
+                <Source>OMIM</Source>
+                <Reference>608736</Reference>
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+              <ExternalReference id="190888">
+                <Source>IUPHAR</Source>
+                <Reference>1193</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11903">
+      <OrphaCode>89838</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=89838</ExpertLink>
+      <Name lang="en">Autosomal recessive generalized epidermolysis bullosa simplex</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7526933[PMID]</SourceOfValidation>
+          <Gene id="16317">
+            <Name lang="en">keratin 14</Name>
+            <Symbol>KRT14</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">epidermolysis bullosa simplex, Dowling-Meara, Koebner</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="30743">
+                <Source>Genatlas</Source>
+                <Reference>KRT14</Reference>
+              </ExternalReference>
+              <ExternalReference id="30741">
+                <Source>HGNC</Source>
+                <Reference>6416</Reference>
+              </ExternalReference>
+              <ExternalReference id="30740">
+                <Source>OMIM</Source>
+                <Reference>148066</Reference>
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+              <ExternalReference id="59212">
+                <Source>Reactome</Source>
+                <Reference>P02533</Reference>
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+              <ExternalReference id="33382">
+                <Source>SwissProt</Source>
+                <Reference>P02533</Reference>
+              </ExternalReference>
+              <ExternalReference id="59211">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186847</Reference>
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+                <GeneLocus>17q21.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="27327">
+      <OrphaCode>521411</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=521411</ExpertLink>
+      <Name lang="en">Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29351582[PMID]</SourceOfValidation>
+          <Gene id="15260">
+            <Name lang="en">synthesis of cytochrome C oxidase 2</Name>
+            <Symbol>SCO2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SCO1L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="25663">
+                <Source>Genatlas</Source>
+                <Reference>SCO2</Reference>
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+              <ExternalReference id="25665">
+                <Source>HGNC</Source>
+                <Reference>10604</Reference>
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+              <ExternalReference id="189374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000284194</Reference>
+              </ExternalReference>
+              <ExternalReference id="25664">
+                <Source>OMIM</Source>
+                <Reference>604272</Reference>
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+              <ExternalReference id="97166">
+                <Source>Reactome</Source>
+                <Reference>O43819</Reference>
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+              <ExternalReference id="33818">
+                <Source>SwissProt</Source>
+                <Reference>O43819</Reference>
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+              <Locus id="58567">
+                <GeneLocus>22q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11881">
+      <OrphaCode>88949</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88949</ExpertLink>
+      <Name lang="en">MUC1-related autosomal dominant tubulointerstitial kidney disease</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23396133[PMID]_24509297[PMID]</SourceOfValidation>
+          <Gene id="21979">
+            <Name lang="en">mucin 1, cell surface associated</Name>
+            <Symbol>MUC1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ADMCKD</Synonym>
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+              <Synonym lang="en">CD227</Synonym>
+              <Synonym lang="en">MCD</Synonym>
+              <Synonym lang="en">MCKD</Synonym>
+              <Synonym lang="en">PEM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185499</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MUC1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7508</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P15941</Reference>
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+                <GeneLocus>1q22</GeneLocus>
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+    <Disorder id="11882">
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+      <Name lang="en">UMOD-related autosomal dominant tubulointerstitial kidney disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">uromodulin</Name>
+            <Symbol>UMOD</Symbol>
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+              <Synonym lang="en">Tamm-Horsfall glycoprotein</Synonym>
+              <Synonym lang="en">uromucoid</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126335">
+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169344</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>12559</Reference>
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+                <Source>SwissProt</Source>
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+    <Disorder id="11872">
+      <OrphaCode>88940</OrphaCode>
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+      <Name lang="en">Pseudohypoaldosteronism type 2C</Name>
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+            <Name lang="en">WNK lysine deficient protein kinase 1</Name>
+            <Symbol>WNK1</Symbol>
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+              <Synonym lang="en">PPP1R167</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060237</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>WNK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14540</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2280</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605232</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H4A3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H4A3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Pseudohypoaldosteronism type 2B</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126562</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q96J92</Reference>
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+      <Name lang="en">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">TSC complex subunit 2</Name>
+            <Symbol>TSC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LAM</Synonym>
+              <Synonym lang="en">PPP1R160</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 160</Synonym>
+              <Synonym lang="en">tuberin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>191092</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P49815</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49815</Reference>
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+              <ExternalReference id="57592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103197</Reference>
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+              <ExternalReference id="27635">
+                <Source>Genatlas</Source>
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+                <Reference>12363</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15007723[PMID]_22169896[PMID]</SourceOfValidation>
+          <Gene id="15098">
+            <Name lang="en">polycystin 1, transient receptor potential channel interacting</Name>
+            <Symbol>PKD1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">PBP</Synonym>
+              <Synonym lang="en">Pc-1</Synonym>
+              <Synonym lang="en">TRPP1</Synonym>
+              <Synonym lang="en">polycystin 1</Synonym>
+              <Synonym lang="en">transient receptor potential cation channel, subfamily P, member 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57714">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008710</Reference>
+              </ExternalReference>
+              <ExternalReference id="24899">
+                <Source>Genatlas</Source>
+                <Reference>PKD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24897">
+                <Source>HGNC</Source>
+                <Reference>9008</Reference>
+              </ExternalReference>
+              <ExternalReference id="24896">
+                <Source>OMIM</Source>
+                <Reference>601313</Reference>
+              </ExternalReference>
+              <ExternalReference id="97156">
+                <Source>Reactome</Source>
+                <Reference>P98161</Reference>
+              </ExternalReference>
+              <ExternalReference id="32789">
+                <Source>SwissProt</Source>
+                <Reference>P98161</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16559">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11850">
+      <OrphaCode>88918</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88918</ExpertLink>
+      <Name lang="en">Autosomal dominant Alport syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301386[PMID]</SourceOfValidation>
+          <Gene id="15772">
+            <Name lang="en">collagen type IV alpha 3 chain</Name>
+            <Symbol>COL4A3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">tumstatin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169031</Reference>
+              </ExternalReference>
+              <ExternalReference id="28117">
+                <Source>Genatlas</Source>
+                <Reference>COL4A3</Reference>
+              </ExternalReference>
+              <ExternalReference id="28115">
+                <Source>HGNC</Source>
+                <Reference>2204</Reference>
+              </ExternalReference>
+              <ExternalReference id="28114">
+                <Source>OMIM</Source>
+                <Reference>120070</Reference>
+              </ExternalReference>
+              <ExternalReference id="59530">
+                <Source>Reactome</Source>
+                <Reference>Q01955</Reference>
+              </ExternalReference>
+              <ExternalReference id="32744">
+                <Source>SwissProt</Source>
+                <Reference>Q01955</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21467">
+                <GeneLocus>2q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID]</SourceOfValidation>
+          <Gene id="15773">
+            <Name lang="en">collagen type IV alpha 4 chain</Name>
+            <Symbol>COL4A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CA44</Synonym>
+              <Synonym lang="en">collagen of basement membrane, alpha-4 chain</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081052</Reference>
+              </ExternalReference>
+              <ExternalReference id="36865">
+                <Source>Genatlas</Source>
+                <Reference>COL4A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="28120">
+                <Source>HGNC</Source>
+                <Reference>2206</Reference>
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+              <ExternalReference id="28119">
+                <Source>OMIM</Source>
+                <Reference>120131</Reference>
+              </ExternalReference>
+              <ExternalReference id="59532">
+                <Source>Reactome</Source>
+                <Reference>P53420</Reference>
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+              <ExternalReference id="32745">
+                <Source>SwissProt</Source>
+                <Reference>P53420</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26317">
+                <GeneLocus>2q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11851">
+      <OrphaCode>88919</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88919</ExpertLink>
+      <Name lang="en">Autosomal recessive Alport syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301386[PMID]</SourceOfValidation>
+          <Gene id="15772">
+            <Name lang="en">collagen type IV alpha 3 chain</Name>
+            <Symbol>COL4A3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">tumstatin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169031</Reference>
+              </ExternalReference>
+              <ExternalReference id="28117">
+                <Source>Genatlas</Source>
+                <Reference>COL4A3</Reference>
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+              <ExternalReference id="28115">
+                <Source>HGNC</Source>
+                <Reference>2204</Reference>
+              </ExternalReference>
+              <ExternalReference id="28114">
+                <Source>OMIM</Source>
+                <Reference>120070</Reference>
+              </ExternalReference>
+              <ExternalReference id="59530">
+                <Source>Reactome</Source>
+                <Reference>Q01955</Reference>
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+              <ExternalReference id="32744">
+                <Source>SwissProt</Source>
+                <Reference>Q01955</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21467">
+                <GeneLocus>2q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301386[PMID]</SourceOfValidation>
+          <Gene id="15773">
+            <Name lang="en">collagen type IV alpha 4 chain</Name>
+            <Symbol>COL4A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CA44</Synonym>
+              <Synonym lang="en">collagen of basement membrane, alpha-4 chain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081052</Reference>
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+              <ExternalReference id="36865">
+                <Source>Genatlas</Source>
+                <Reference>COL4A4</Reference>
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+              <ExternalReference id="28120">
+                <Source>HGNC</Source>
+                <Reference>2206</Reference>
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+              <ExternalReference id="28119">
+                <Source>OMIM</Source>
+                <Reference>120131</Reference>
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+              <ExternalReference id="59532">
+                <Source>Reactome</Source>
+                <Reference>P53420</Reference>
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+              <ExternalReference id="32745">
+                <Source>SwissProt</Source>
+                <Reference>P53420</Reference>
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+            <LocusList count="1">
+              <Locus id="26317">
+                <GeneLocus>2q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11849">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=88917</ExpertLink>
+      <Name lang="en">X-linked Alport syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301386[PMID]</SourceOfValidation>
+          <Gene id="15774">
+            <Name lang="en">collagen type IV alpha 5 chain</Name>
+            <Symbol>COL4A5</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58683">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188153</Reference>
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+              <ExternalReference id="28126">
+                <Source>Genatlas</Source>
+                <Reference>COL4A5</Reference>
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+              <ExternalReference id="28124">
+                <Source>HGNC</Source>
+                <Reference>2207</Reference>
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+              <ExternalReference id="28123">
+                <Source>OMIM</Source>
+                <Reference>303630</Reference>
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+              <ExternalReference id="58684">
+                <Source>Reactome</Source>
+                <Reference>P29400</Reference>
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+              <ExternalReference id="32746">
+                <Source>SwissProt</Source>
+                <Reference>P29400</Reference>
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+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12199">
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+      <Name lang="en">Fragile X-associated tremor/ataxia syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16063">
+            <Name lang="en">fragile X messenger ribonucleoprotein 1</Name>
+            <Symbol>FMR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FMRP</Synonym>
+              <Synonym lang="en">FRAXA</Synonym>
+              <Synonym lang="en">MGC87458</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56832">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102081</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FMR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3775</Reference>
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+              <ExternalReference id="29528">
+                <Source>OMIM</Source>
+                <Reference>309550</Reference>
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+              <ExternalReference id="33078">
+                <Source>SwissProt</Source>
+                <Reference>Q06787</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xq27.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>528105</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=528105</ExpertLink>
+      <Name lang="en">Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28674042[PMID]</SourceOfValidation>
+          <Gene id="26170">
+            <Name lang="en">claudin 10</Name>
+            <Symbol>CLDN10</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CPETRL3</Synonym>
+              <Synonym lang="en">OSP-L</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P78369</Reference>
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+                <Source>OMIM</Source>
+                <Reference>617579</Reference>
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+              <ExternalReference id="152097">
+                <Source>HGNC</Source>
+                <Reference>2033</Reference>
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+              <ExternalReference id="152098">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134873</Reference>
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+              <ExternalReference id="152101">
+                <Source>Genatlas</Source>
+                <Reference>CLDN10</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P78369</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>528091</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=528091</ExpertLink>
+      <Name lang="en">Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">leucyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>LARS2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">'leucine tRNA ligase 2, mitochondrial'</Synonym>
+              <Synonym lang="en">KIAA0028</Synonym>
+              <Synonym lang="en">LEURS</Synonym>
+              <Synonym lang="en">Leucine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">MGC26121</Synonym>
+              <Synonym lang="en">mtLeuRS</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011376</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>17095</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604544</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q15031</Reference>
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+      <Name lang="en">Non-specific syndromic intellectual disability</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">zinc finger MIZ-type containing 1</Name>
+            <Symbol>ZMIZ1</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">KIAA1224</Synonym>
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+              <Synonym lang="en">RP11-519K18.1</Synonym>
+              <Synonym lang="en">Zimp10</Synonym>
+              <Synonym lang="en">hZIMP10</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>16493</Reference>
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+              <ExternalReference id="171427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108175</Reference>
+              </ExternalReference>
+              <ExternalReference id="171428">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULJ6</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607159</Reference>
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+                <GeneLocus>10q22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30778726[PMID]</SourceOfValidation>
+          <Gene id="28281">
+            <Name lang="en">pseudouridine synthase 7</Name>
+            <Symbol>PUS7</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ20485</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189350">
+                <Source>HGNC</Source>
+                <Reference>26033</Reference>
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+              <ExternalReference id="190798">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091127</Reference>
+              </ExternalReference>
+              <ExternalReference id="190799">
+                <Source>OMIM</Source>
+                <Reference>616261</Reference>
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+              <ExternalReference id="200534">
+                <Source>SwissProt</Source>
+                <Reference>Q96PZ0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="80043">
+                <GeneLocus>7q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30690204[PMID]</SourceOfValidation>
+          <Gene id="29244">
+            <Name lang="en">trafficking protein particle complex subunit 4</Name>
+            <Symbol>TRAPPC4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PTD009</Synonym>
+              <Synonym lang="en">SBDN</Synonym>
+              <Synonym lang="en">TRS23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
+                <Reference>19943</Reference>
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+              <ExternalReference id="184091">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196655</Reference>
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+              <ExternalReference id="184092">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y296</Reference>
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+              <ExternalReference id="184093">
+                <Source>Reactome</Source>
+                <Reference>Q9Y296</Reference>
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+              <ExternalReference id="184094">
+                <Source>OMIM</Source>
+                <Reference>610971</Reference>
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+            <LocusList count="1">
+              <Locus id="55317">
+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35045343[PMID]</SourceOfValidation>
+          <Gene id="29142">
+            <Name lang="en">mannosidase alpha class 2C member 1</Name>
+            <Symbol>MAN2C1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>HGNC</Source>
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+              <ExternalReference id="183604">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140400</Reference>
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+              <ExternalReference id="183605">
+                <Source>SwissProt</Source>
+                <Reference>Q9NTJ4</Reference>
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+              <ExternalReference id="183606">
+                <Source>Reactome</Source>
+                <Reference>Q9NTJ4</Reference>
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+              <ExternalReference id="183607">
+                <Source>OMIM</Source>
+                <Reference>154580</Reference>
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+            <LocusList count="1">
+              <Locus id="55053">
+                <GeneLocus>15q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35051358[PMID]</SourceOfValidation>
+          <Gene id="20738">
+            <Name lang="en">BRCA1 associated protein 1</Name>
+            <Symbol>BAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0272</Synonym>
+              <Synonym lang="en">UCHL2</Synonym>
+              <Synonym lang="en">hucep-6</Synonym>
+              <Synonym lang="en">ubiquitin carboxy-terminal hydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126405">
+                <Source>Reactome</Source>
+                <Reference>Q92560</Reference>
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+              <ExternalReference id="60620">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163930</Reference>
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+              <ExternalReference id="55818">
+                <Source>Genatlas</Source>
+                <Reference>BAP1</Reference>
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+              <ExternalReference id="55816">
+                <Source>HGNC</Source>
+                <Reference>950</Reference>
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+              <ExternalReference id="83235">
+                <Source>IUPHAR</Source>
+                <Reference>2332</Reference>
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+              <ExternalReference id="55817">
+                <Source>OMIM</Source>
+                <Reference>603089</Reference>
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+              <ExternalReference id="55819">
+                <Source>SwissProt</Source>
+                <Reference>Q92560</Reference>
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+                <GeneLocus>3p21.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28251352[PMID]</SourceOfValidation>
+          <Gene id="25002">
+            <Name lang="en">thyroid hormone receptor interactor 12</Name>
+            <Symbol>TRIP12</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">E3 ubiquitin-protein ligase for Arf</Synonym>
+              <Synonym lang="en">KIAA0045</Synonym>
+              <Synonym lang="en">TRIPC</Synonym>
+              <Synonym lang="en">ULF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="144076">
+                <Source>Genatlas</Source>
+                <Reference>TRIP12</Reference>
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+              <ExternalReference id="133266">
+                <Source>SwissProt</Source>
+                <Reference>Q14669</Reference>
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+              <ExternalReference id="132539">
+                <Source>OMIM</Source>
+                <Reference>604506</Reference>
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+              <ExternalReference id="134027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153827</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14669</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33397746[PMID]</SourceOfValidation>
+          <Gene id="25052">
+            <Name lang="en">zinc finger protein 526</Name>
+            <Symbol>ZNF526</Symbol>
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+              <Synonym lang="en">KIAA1951</Synonym>
+              <Synonym lang="en">MGC4267</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167625</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29415</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TF50</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8TF50</Reference>
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+                <Source>OMIM</Source>
+                <Reference>614387</Reference>
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+                <GeneLocus>19q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30941876[PMID]</SourceOfValidation>
+          <Gene id="24363">
+            <Name lang="en">BCL6 corepressor like 1</Name>
+            <Symbol>BCORL1</Symbol>
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+              <Synonym lang="en">FLJ11362</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085185</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TDI0</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29288087[PMID]_30268909[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31079897[PMID]</SourceOfValidation>
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+            <Name lang="en">lysine methyltransferase 2E (inactive)</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177868</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">F-box and WD repeat domain containing 11</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ER membrane protein complex subunit 10</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34022130[PMID]</SourceOfValidation>
+          <Gene id="30708">
+            <Name lang="en">BCAS3 microtubule associated cell migration factor</Name>
+            <Symbol>BCAS3</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9H6U6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34211179[PMID]</SourceOfValidation>
+          <Gene id="30709">
+            <Name lang="en">spectrin beta, non-erythrocytic 1</Name>
+            <Symbol>SPTBN1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32820033[PMID]</SourceOfValidation>
+          <Gene id="30710">
+            <Name lang="en">LMBR1 domain containing 2</Name>
+            <Symbol>LMBRD2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164187</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30289604[PMID]</SourceOfValidation>
+          <Gene id="28657">
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+            <Symbol>TRMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20244</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33824500[PMID]</SourceOfValidation>
+          <Gene id="31537">
+            <Name lang="en">transmembrane protein 222</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33131077[PMID]</SourceOfValidation>
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+            <Name lang="en">OTU deubiquitinase 5</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182568</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="53143">
+                <GeneLocus>3p24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32152250[PMID]</SourceOfValidation>
+          <Gene id="28188">
+            <Name lang="en">trinucleotide repeat containing adaptor 6B</Name>
+            <Symbol>TNRC6B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1093</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="170900">
+                <Source>HGNC</Source>
+                <Reference>29190</Reference>
+              </ExternalReference>
+              <ExternalReference id="170901">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100354</Reference>
+              </ExternalReference>
+              <ExternalReference id="170902">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPQ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="170903">
+                <Source>Reactome</Source>
+                <Reference>Q9UPQ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="170904">
+                <Source>OMIM</Source>
+                <Reference>610740</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51847">
+                <GeneLocus>22q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33909990[PMID]</SourceOfValidation>
+          <Gene id="20811">
+            <Name lang="en">Snf2 related CREBBP activator protein</Name>
+            <Symbol>SRCAP</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DOMO1</Synonym>
+              <Synonym lang="en">Domino homolog 1 (Drosophila)</Synonym>
+              <Synonym lang="en">EAF1</Synonym>
+              <Synonym lang="en">KIAA0309</Synonym>
+              <Synonym lang="en">SWR1</Synonym>
+              <Synonym lang="en">Swi2/Snf2-related ATPase homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">domino homolog 1 (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83259">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080603</Reference>
+              </ExternalReference>
+              <ExternalReference id="61010">
+                <Source>Genatlas</Source>
+                <Reference>SRCAP</Reference>
+              </ExternalReference>
+              <ExternalReference id="61008">
+                <Source>HGNC</Source>
+                <Reference>16974</Reference>
+              </ExternalReference>
+              <ExternalReference id="61009">
+                <Source>OMIM</Source>
+                <Reference>611421</Reference>
+              </ExternalReference>
+              <ExternalReference id="61011">
+                <Source>SwissProt</Source>
+                <Reference>Q6ZRS2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11827">
+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33864376[PMID]</SourceOfValidation>
+          <Gene id="26740">
+            <Name lang="en">ring finger protein 2</Name>
+            <Symbol>RNF2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BAP-1</Synonym>
+              <Synonym lang="en">BAP1</Synonym>
+              <Synonym lang="en">DING</Synonym>
+              <Synonym lang="en">HIPI3</Synonym>
+              <Synonym lang="en">RING1B</Synonym>
+              <Synonym lang="en">RING2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="156432">
+                <Source>HGNC</Source>
+                <Reference>10061</Reference>
+              </ExternalReference>
+              <ExternalReference id="156535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121481</Reference>
+              </ExternalReference>
+              <ExternalReference id="190971">
+                <Source>OMIM</Source>
+                <Reference>608985</Reference>
+              </ExternalReference>
+              <ExternalReference id="200602">
+                <Source>SwissProt</Source>
+                <Reference>Q99496</Reference>
+              </ExternalReference>
+              <ExternalReference id="156884">
+                <Source>Genatlas</Source>
+                <Reference>RNF2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80179">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34157790[PMID]</SourceOfValidation>
+          <Gene id="30005">
+            <Name lang="en">synaptotagmin binding cytoplasmic RNA interacting protein</Name>
+            <Symbol>SYNCRIP</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">GRY-RBP</Synonym>
+              <Synonym lang="en">HNRNPQ</Synonym>
+              <Synonym lang="en">HNRPQ1</Synonym>
+              <Synonym lang="en">NSAP1</Synonym>
+              <Synonym lang="en">dJ3J17.2</Synonym>
+              <Synonym lang="en">heterogeneous nuclear ribonucleoprotein Q</Synonym>
+              <Synonym lang="en">hnRNP-Q</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189569">
+                <Source>HGNC</Source>
+                <Reference>16918</Reference>
+              </ExternalReference>
+              <ExternalReference id="201432">
+                <Source>SwissProt</Source>
+                <Reference>O60506</Reference>
+              </ExternalReference>
+              <ExternalReference id="193029">
+                <Source>OMIM</Source>
+                <Reference>616686</Reference>
+              </ExternalReference>
+              <ExternalReference id="193028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135316</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81839">
+                <GeneLocus>6q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34183358[PMID]</SourceOfValidation>
+          <Gene id="30431">
+            <Name lang="en">G protein subunit beta 2</Name>
+            <Symbol>GNB2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">'G protein, beta-2 subunit'</Synonym>
+              <Synonym lang="en">guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2</Synonym>
+              <Synonym lang="en">signal-transducing guanine nucleotide-binding regulatory protein beta subunit</Synonym>
+              <Synonym lang="en">transducin beta chain 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189994">
+                <Source>HGNC</Source>
+                <Reference>4398</Reference>
+              </ExternalReference>
+              <ExternalReference id="192110">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172354</Reference>
+              </ExternalReference>
+              <ExternalReference id="192111">
+                <Source>OMIM</Source>
+                <Reference>139390</Reference>
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+              <ExternalReference id="201129">
+                <Source>SwissProt</Source>
+                <Reference>P62879</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81233">
+                <GeneLocus>7q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35543142[PMID]</SourceOfValidation>
+          <Gene id="15151">
+            <Name lang="en">pre-mRNA processing factor 8</Name>
+            <Symbol>PRPF8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PRPC8</Synonym>
+              <Synonym lang="en">Prp8</Synonym>
+              <Synonym lang="en">SNRNP220</Synonym>
+              <Synonym lang="en">hPrp8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33262">
+                <Source>SwissProt</Source>
+                <Reference>Q6P2Q9</Reference>
+              </ExternalReference>
+              <ExternalReference id="57554">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174231</Reference>
+              </ExternalReference>
+              <ExternalReference id="25155">
+                <Source>Genatlas</Source>
+                <Reference>PRPF8</Reference>
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+              <ExternalReference id="25153">
+                <Source>HGNC</Source>
+                <Reference>17340</Reference>
+              </ExternalReference>
+              <ExternalReference id="25152">
+                <Source>OMIM</Source>
+                <Reference>607300</Reference>
+              </ExternalReference>
+              <ExternalReference id="57555">
+                <Source>Reactome</Source>
+                <Reference>Q6P2Q9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+              <Locus id="6871">
+                <GeneLocus>17p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35108495[PMID]</SourceOfValidation>
+          <Gene id="30086">
+            <Name lang="en">neuronal cell adhesion molecule</Name>
+            <Symbol>NRCAM</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Bravo</Synonym>
+              <Synonym lang="en">KIAA0343</Synonym>
+              <Synonym lang="en">NgCAM-related cell adhesion molecule</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>HGNC</Source>
+                <Reference>7994</Reference>
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+              <ExternalReference id="201342">
+                <Source>SwissProt</Source>
+                <Reference>Q92823</Reference>
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+              <ExternalReference id="192750">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091129</Reference>
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+              <ExternalReference id="192751">
+                <Source>OMIM</Source>
+                <Reference>601581</Reference>
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+            <LocusList count="1">
+              <Locus id="81659">
+                <GeneLocus>7q31.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35202563[PMID]</SourceOfValidation>
+          <Gene id="30459">
+            <Name lang="en">H4 clustered histone 5</Name>
+            <Symbol>H4C5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">H4/j</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="192211">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000276966</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="201163">
+                <Source>SwissProt</Source>
+                <Reference>P62805</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35240055[PMID]</SourceOfValidation>
+          <Gene id="31530">
+            <Name lang="en">TIAM Rac1 associated GEF 1</Name>
+            <Symbol>TIAM1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>600687</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13009</Reference>
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+              <ExternalReference id="207647">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156299</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31327001[PMID]</SourceOfValidation>
+          <Gene id="25632">
+            <Name lang="en">WD repeat and FYVE domain containing 3</Name>
+            <Symbol>WDFY3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ALFY</Synonym>
+              <Synonym lang="en">KIAA0993</Synonym>
+              <Synonym lang="en">ZFYVE25</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>HGNC</Source>
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+              <ExternalReference id="146415">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163625</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IZQ1</Reference>
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+              <ExternalReference id="146417">
+                <Source>OMIM</Source>
+                <Reference>617485</Reference>
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+              <ExternalReference id="146418">
+                <Source>Genatlas</Source>
+                <Reference>WDFY3</Reference>
+              </ExternalReference>
+              <ExternalReference id="146419">
+                <Source>Reactome</Source>
+                <Reference>Q8IZQ1</Reference>
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+                <GeneLocus>4q21.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31668703[PMID]</SourceOfValidation>
+          <Gene id="18077">
+            <Name lang="en">netrin G1</Name>
+            <Symbol>NTNG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0976</Synonym>
+              <Synonym lang="en">Lmnt1</Synonym>
+              <Synonym lang="en">Netrin-G1</Synonym>
+              <Synonym lang="en">netrin G1f</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2I2</Reference>
+              </ExternalReference>
+              <ExternalReference id="58391">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162631</Reference>
+              </ExternalReference>
+              <ExternalReference id="41065">
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+                <Source>HGNC</Source>
+                <Reference>23319</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2I2</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31201375[PMID]</SourceOfValidation>
+          <Gene id="22045">
+            <Name lang="en">CCR4-NOT transcription complex subunit 3</Name>
+            <Symbol>CNOT3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0691</Synonym>
+              <Synonym lang="en">LENG2</Synonym>
+              <Synonym lang="en">NOT3 (negative regulator of transcription 3, yeast) homolog</Synonym>
+              <Synonym lang="en">NOT3H</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000088038</Reference>
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+              <ExternalReference id="79149">
+                <Source>Genatlas</Source>
+                <Reference>CNOT3</Reference>
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+              <ExternalReference id="79148">
+                <Source>HGNC</Source>
+                <Reference>7879</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604910</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75175</Reference>
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+              <ExternalReference id="79151">
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+                <Reference>O75175</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.42</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33340455[PMID]</SourceOfValidation>
+          <Gene id="30409">
+            <Name lang="en">ubiquitin protein ligase E3 component n-recognin 7</Name>
+            <Symbol>UBR7</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>20344</Reference>
+              </ExternalReference>
+              <ExternalReference id="192086">
+                <Source>OMIM</Source>
+                <Reference>613816</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012963</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29961568[PMID]</SourceOfValidation>
+          <Gene id="30413">
+            <Name lang="en">WASP family member 1</Name>
+            <Symbol>WASF1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0269</Synonym>
+              <Synonym lang="en">SCAR1</Synonym>
+              <Synonym lang="en">WAVE</Synonym>
+              <Synonym lang="en">WAVE1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q92558</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112290</Reference>
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+                <Reference>12732</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32346159[PMID]</SourceOfValidation>
+          <Gene id="25730">
+            <Name lang="en">SET domain containing 1A, histone lysine methyltransferase</Name>
+            <Symbol>SETD1A</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0339</Synonym>
+              <Synonym lang="en">KMT2F</Synonym>
+              <Synonym lang="en">SET1A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099381</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>OMIM</Source>
+                <Reference>611052</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SETD1A</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O15047</Reference>
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+                <Reference>2700</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>32761064[PMID]</SourceOfValidation>
+          <Gene id="30560">
+            <Name lang="en">MAP kinase activating death domain</Name>
+            <Symbol>MADD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DENN</Synonym>
+              <Synonym lang="en">KIAA0358</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q8WXG6</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110514</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31668703[PMID]</SourceOfValidation>
+          <Gene id="30340">
+            <Name lang="en">netrin G2</Name>
+            <Symbol>NTNG2</Symbol>
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+              <Synonym lang="en">KIAA1857</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196358</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>35202563[PMID]</SourceOfValidation>
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+            <Name lang="en">H4 clustered histone 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32307552[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33073849[PMID]</SourceOfValidation>
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+            <Name lang="en">protein associated with LIN7 1, MAGUK p55 family member</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072415</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32707086[PMID]</SourceOfValidation>
+          <Gene id="30681">
+            <Name lang="en">4-hydroxyphenylpyruvate dioxygenase like</Name>
+            <Symbol>HPDL</Symbol>
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+              <ExternalReference id="200320">
+                <Source>HGNC</Source>
+                <Reference>28242</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186603</Reference>
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+                <Source>OMIM</Source>
+                <Reference>618994</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96IR7</Reference>
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+                <GeneLocus>1p34.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33159882[PMID]</SourceOfValidation>
+          <Gene id="30682">
+            <Name lang="en">heparan sulfate 2-O-sulfotransferase 1</Name>
+            <Symbol>HS2ST1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153936</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604844</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q7LGA3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29220673[PMID]</SourceOfValidation>
+          <Gene id="28743">
+            <Name lang="en">glutamate ionotropic receptor AMPA type subunit 4</Name>
+            <Symbol>GRIA4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GLURD</Synonym>
+              <Synonym lang="en">GluA4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152578</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48058</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48058</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>447</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29740699[PMID]</SourceOfValidation>
+          <Gene id="28186">
+            <Name lang="en">mediator complex subunit 13</Name>
+            <Symbol>MED13</Symbol>
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+              <Synonym lang="en">KIAA0593</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108510</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UHV7</Reference>
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+              <ExternalReference id="170892">
+                <Source>Reactome</Source>
+                <Reference>Q9UHV7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30909959[PMID]</SourceOfValidation>
+          <Gene id="24969">
+            <Name lang="en">transcription factor 20</Name>
+            <Symbol>TCF20</Symbol>
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+              <Synonym lang="en">AR1</Synonym>
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+              <Synonym lang="en">stromelysin-1 platelet-derived growth factor-responsive element binding protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UGU0</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100207</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34003604[PMID]</SourceOfValidation>
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+            <Name lang="en">transcription factor 7 like 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NQB0</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>33077894[PMID]</SourceOfValidation>
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+            <Name lang="en">jumonji and AT-rich interaction domain containing 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q92833</Reference>
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+                <Source>OMIM</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Locus id="88861">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33875846[PMID]</SourceOfValidation>
+          <Gene id="31553">
+            <Name lang="en">zinc finger protein 699</Name>
+            <Symbol>ZNF699</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="208964">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196110</Reference>
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+              <ExternalReference id="208965">
+                <Source>OMIM</Source>
+                <Reference>609571</Reference>
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+              <ExternalReference id="208966">
+                <Source>SwissProt</Source>
+                <Reference>Q32M78</Reference>
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+              <ExternalReference id="207755">
+                <Source>HGNC</Source>
+                <Reference>24750</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88645">
+                <GeneLocus>19p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35202563[PMID]</SourceOfValidation>
+          <Gene id="30460">
+            <Name lang="en">H4 clustered histone 9</Name>
+            <Symbol>H4C9</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">H4/m</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="190023">
+                <Source>HGNC</Source>
+                <Reference>4793</Reference>
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+              <ExternalReference id="192196">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000276180</Reference>
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+              <ExternalReference id="192197">
+                <Source>OMIM</Source>
+                <Reference>602833</Reference>
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+              <ExternalReference id="201158">
+                <Source>SwissProt</Source>
+                <Reference>P62805</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30055078[PMID]</SourceOfValidation>
+          <Gene id="24732">
+            <Name lang="en">myelin transcription factor 1 like</Name>
+            <Symbol>MYT1L</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA1106</Synonym>
+              <Synonym lang="en">NZF1</Synonym>
+              <Synonym lang="en">ZC2H2C2</Synonym>
+              <Synonym lang="en">ZC2HC4B</Synonym>
+              <Synonym lang="en">neural zinc finger transcription factor 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="143290">
+                <Source>Genatlas</Source>
+                <Reference>MYT1L</Reference>
+              </ExternalReference>
+              <ExternalReference id="132280">
+                <Source>OMIM</Source>
+                <Reference>613084</Reference>
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+              <ExternalReference id="131549">
+                <Source>HGNC</Source>
+                <Reference>7623</Reference>
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+              <ExternalReference id="133503">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186487</Reference>
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+              <ExternalReference id="132999">
+                <Source>SwissProt</Source>
+                <Reference>Q9UL68</Reference>
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+                <GeneLocus>2p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30976111[PMID]</SourceOfValidation>
+          <Gene id="28421">
+            <Name lang="en">dedicator of cytokinesis 3</Name>
+            <Symbol>DOCK3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0299</Synonym>
+              <Synonym lang="en">MOCA</Synonym>
+              <Synonym lang="en">PBP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="172002">
+                <Source>Reactome</Source>
+                <Reference>Q8IZD9</Reference>
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+              <ExternalReference id="172003">
+                <Source>OMIM</Source>
+                <Reference>603123</Reference>
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+              <ExternalReference id="171999">
+                <Source>HGNC</Source>
+                <Reference>2989</Reference>
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+              <ExternalReference id="172000">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088538</Reference>
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+              <ExternalReference id="172001">
+                <Source>SwissProt</Source>
+                <Reference>Q8IZD9</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25644381[PMID]_29728705[PMID]</SourceOfValidation>
+          <Gene id="24245">
+            <Name lang="en">ring finger protein, LIM domain interacting</Name>
+            <Symbol>RLIM</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">E3 ubiquitin-protein ligase RLIM</Synonym>
+              <Synonym lang="en">LIM domain interacting ring finger protein</Synonym>
+              <Synonym lang="en">MGC15161</Synonym>
+              <Synonym lang="en">NY-REN-43</Synonym>
+              <Synonym lang="en">ring zinc finger protein NY-REN-43antigen</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126728">
+                <Source>HGNC</Source>
+                <Reference>13429</Reference>
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+              <ExternalReference id="126729">
+                <Source>OMIM</Source>
+                <Reference>300379</Reference>
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+              <ExternalReference id="126730">
+                <Source>Genatlas</Source>
+                <Reference>RLIM</Reference>
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+              <ExternalReference id="126731">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVW2</Reference>
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+              <ExternalReference id="126732">
+                <Source>Reactome</Source>
+                <Reference>Q9NVW2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131263</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26971">
+                <GeneLocus>Xq13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29728705[PMID]</SourceOfValidation>
+          <Gene id="27590">
+            <Name lang="en">actin like 6A</Name>
+            <Symbol>ACTL6A</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">Actl6</Synonym>
+              <Synonym lang="en">Arp4</Synonym>
+              <Synonym lang="en">BAF complex 53 kDa subunit</Synonym>
+              <Synonym lang="en">BAF53A</Synonym>
+              <Synonym lang="en">BRG1-associated factor</Synonym>
+              <Synonym lang="en">BRG1-associated factor 53A</Synonym>
+              <Synonym lang="en">Baf53a</Synonym>
+              <Synonym lang="en">INO80 complex subunit K</Synonym>
+              <Synonym lang="en">INO80K</Synonym>
+              <Synonym lang="en">SMARCN1</Synonym>
+              <Synonym lang="en">actin-related protein 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="160609">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136518</Reference>
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+              <ExternalReference id="160611">
+                <Source>Reactome</Source>
+                <Reference>O96019</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604958</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O96019</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24124</Reference>
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+                <GeneLocus>3q26.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34186028[PMID]</SourceOfValidation>
+          <Gene id="31368">
+            <Name lang="en">chloride voltage-gated channel 3</Name>
+            <Symbol>CLCN3</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109572</Reference>
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+                <Source>OMIM</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>702</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51790</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33199684[PMID]</SourceOfValidation>
+          <Gene id="24337">
+            <Name lang="en">argonaute 2, RISC catalytic component</Name>
+            <Symbol>AGO2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LINC00980</Synonym>
+              <Synonym lang="en">Q10</Synonym>
+              <Synonym lang="en">argonaute 2</Synonym>
+              <Synonym lang="en">hAGO2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143138">
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+                <Reference>AGO2</Reference>
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+              <ExternalReference id="133483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123908</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UKV8</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31794431[PMID]</SourceOfValidation>
+          <Gene id="30299">
+            <Name lang="en">lysine acetyltransferase 8</Name>
+            <Symbol>KAT8</Symbol>
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+              <Synonym lang="en">FLJ14040</Synonym>
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+              <Synonym lang="en">ZC2HC8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103510</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H7Z6</Reference>
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+          <SourceOfValidation>31152168[PMID]</SourceOfValidation>
+          <Gene id="16294">
+            <Name lang="en">potassium calcium-activated channel subfamily M alpha 1</Name>
+            <Symbol>KCNMA1</Symbol>
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+              <Synonym lang="en">KCa1.1</Synonym>
+              <Synonym lang="en">big potassium channel alpha subunit</Synonym>
+              <Synonym lang="en">mSLO1</Synonym>
+              <Synonym lang="en">maxiK channel</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156113</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q12791</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">huntingtin</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197386</Reference>
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+                <Reference>4851</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="31532">
+            <Name lang="en">ATPase plasma membrane Ca2+ transporting 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070961</Reference>
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+                <Source>OMIM</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>843</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P20020</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34054129[PMID]</SourceOfValidation>
+          <Gene id="25743">
+            <Name lang="en">plexin A1</Name>
+            <Symbol>PLXNA1</Symbol>
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+              <Synonym lang="en">NOV</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>33150406[PMID]</SourceOfValidation>
+          <Gene id="26669">
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+            <Symbol>KMT2B</Symbol>
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+              <Synonym lang="en">HRX2</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2B</Synonym>
+              <Synonym lang="en">KIAA0304</Synonym>
+              <Synonym lang="en">MLL1B</Synonym>
+              <Synonym lang="en">MLL2</Synonym>
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+              <Synonym lang="en">TRX2</Synonym>
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+              <Synonym lang="en">myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>34244665[PMID]</SourceOfValidation>
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+            <Name lang="en">protocadherin gamma subfamily C, 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>35121750[PMID]</SourceOfValidation>
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+            <Name lang="en">cleavage and polyadenylation specific factor 3</Name>
+            <Symbol>CPSF3</Symbol>
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+            <GeneType id="25993">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28132691[PMID]_30421579[PMID]</SourceOfValidation>
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+            <Name lang="en">proteasome 26S subunit, non-ATPase 12</Name>
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+                <Reference>ENSG00000197170</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00232</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Crouzon syndrome-acanthosis nigricans syndrome</Name>
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+                <Source>Genatlas</Source>
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+                <Reference>29262</Reference>
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+                <Reference>Q9P2H3</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22791528[PMID]_19442771[PMID]</SourceOfValidation>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">IFT121</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">FAP163</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000126870</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>21862</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97353">
+                <Source>Reactome</Source>
+                <Reference>Q8WVS4</Reference>
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+              <ExternalReference id="81450">
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+                <Reference>Q8WVS4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24183449[PMID]</SourceOfValidation>
+          <Gene id="22549">
+            <Name lang="en">dynein 2 intermediate chain 2</Name>
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+              <Synonym lang="en">FAP133</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q96EX3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96EX3</Reference>
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+              <Synonym lang="en">IFT54</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NCM8</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+    <Disorder id="12222">
+      <OrphaCode>93282</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93282</ExpertLink>
+      <Name lang="en">Spondyloepimetaphyseal dysplasia, PAPSS2 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9771708[PMID]</SourceOfValidation>
+          <Gene id="16607">
+            <Name lang="en">3'-phosphoadenosine 5'-phosphosulfate synthase 2</Name>
+            <Symbol>PAPSS2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">ATPSK2</Synonym>
+              <Synonym lang="en">PAPS synthase 2</Synonym>
+              <Synonym lang="en">adenosine 5'-phosphosulfate kinase</Synonym>
+              <Synonym lang="en">adenylyl-sulfate kinase</Synonym>
+              <Synonym lang="en">bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2</Synonym>
+              <Synonym lang="en">sulfate adenylyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59675">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198682</Reference>
+              </ExternalReference>
+              <ExternalReference id="32095">
+                <Source>Genatlas</Source>
+                <Reference>PAPSS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32097">
+                <Source>HGNC</Source>
+                <Reference>8604</Reference>
+              </ExternalReference>
+              <ExternalReference id="32096">
+                <Source>OMIM</Source>
+                <Reference>603005</Reference>
+              </ExternalReference>
+              <ExternalReference id="59676">
+                <Source>Reactome</Source>
+                <Reference>O95340</Reference>
+              </ExternalReference>
+              <ExternalReference id="33672">
+                <Source>SwissProt</Source>
+                <Reference>O95340</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22825">
+                <GeneLocus>10q23.2-q23.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12223">
+      <OrphaCode>93283</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93283</ExpertLink>
+      <Name lang="en">Spondyloepiphyseal dysplasia, Kimberley type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16080123[PMID]</SourceOfValidation>
+          <Gene id="15068">
+            <Name lang="en">aggrecan</Name>
+            <Symbol>ACAN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CSPGCP</Synonym>
+              <Synonym lang="en">aggrecan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59677">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157766</Reference>
+              </ExternalReference>
+              <ExternalReference id="37001">
+                <Source>Genatlas</Source>
+                <Reference>ACAN</Reference>
+              </ExternalReference>
+              <ExternalReference id="24749">
+                <Source>HGNC</Source>
+                <Reference>319</Reference>
+              </ExternalReference>
+              <ExternalReference id="24748">
+                <Source>OMIM</Source>
+                <Reference>155760</Reference>
+              </ExternalReference>
+              <ExternalReference id="82728">
+                <Source>Reactome</Source>
+                <Reference>P16112</Reference>
+              </ExternalReference>
+              <ExternalReference id="32345">
+                <Source>SwissProt</Source>
+                <Reference>P16112</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6711">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12220">
+      <OrphaCode>93279</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93279</ExpertLink>
+      <Name lang="en">Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1975693[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
+              </ExternalReference>
+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23227">
+                <GeneLocus>12q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12218">
+      <OrphaCode>93276</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93276</ExpertLink>
+      <Name lang="en">Polyostotic fibrous dysplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10535539[PMID]_10646121[PMID]</SourceOfValidation>
+          <Gene id="16147">
+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">G protein subunit alpha S</Synonym>
+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="9">
+              <ExternalReference id="82607">
+                <Source>SwissProt</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95207">
+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
+              </ExternalReference>
+              <ExternalReference id="95206">
+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="57099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
+              </ExternalReference>
+              <ExternalReference id="29938">
+                <Source>Genatlas</Source>
+                <Reference>GNAS</Reference>
+              </ExternalReference>
+              <ExternalReference id="29933">
+                <Source>HGNC</Source>
+                <Reference>4392</Reference>
+              </ExternalReference>
+              <ExternalReference id="29932">
+                <Source>OMIM</Source>
+                <Reference>139320</Reference>
+              </ExternalReference>
+              <ExternalReference id="126516">
+                <Source>Reactome</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95208">
+                <Source>SwissProt</Source>
+                <Reference>O95467</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58533">
+                <GeneLocus>20q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12219">
+      <OrphaCode>93277</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93277</ExpertLink>
+      <Name lang="en">Monostotic fibrous dysplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10535539[PMID]_10646121[PMID]</SourceOfValidation>
+          <Gene id="16147">
+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">G protein subunit alpha S</Synonym>
+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="9">
+              <ExternalReference id="82607">
+                <Source>SwissProt</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95207">
+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
+              </ExternalReference>
+              <ExternalReference id="95206">
+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="57099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+              <ExternalReference id="29938">
+                <Source>Genatlas</Source>
+                <Reference>GNAS</Reference>
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+              <ExternalReference id="29933">
+                <Source>HGNC</Source>
+                <Reference>4392</Reference>
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+              <ExternalReference id="29932">
+                <Source>OMIM</Source>
+                <Reference>139320</Reference>
+              </ExternalReference>
+              <ExternalReference id="126516">
+                <Source>Reactome</Source>
+                <Reference>P63092</Reference>
+              </ExternalReference>
+              <ExternalReference id="95208">
+                <Source>SwissProt</Source>
+                <Reference>O95467</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>20q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12216">
+      <OrphaCode>93274</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93274</ExpertLink>
+      <Name lang="en">Thanatophoric dysplasia type 2</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301540[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
+              </ExternalReference>
+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29456">
+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
+              </ExternalReference>
+              <ExternalReference id="82917">
+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
+              </ExternalReference>
+              <ExternalReference id="29455">
+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
+              </ExternalReference>
+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
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+              <ExternalReference id="33062">
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+                <Reference>P22607</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>527497</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=527497</ExpertLink>
+      <Name lang="en">NKX6-2-related autosomal recessive hypomyelinating leukodystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28575651[PMID]</SourceOfValidation>
+          <Gene id="26535">
+            <Name lang="en">NK6 homeobox 2</Name>
+            <Symbol>NKX6-2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GTX</Synonym>
+              <Synonym lang="en">NKX6.1</Synonym>
+              <Synonym lang="en">NKX6B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="155754">
+                <Source>HGNC</Source>
+                <Reference>19321</Reference>
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+              <ExternalReference id="155755">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148826</Reference>
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+              <ExternalReference id="155756">
+                <Source>SwissProt</Source>
+                <Reference>Q9C056</Reference>
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+              <ExternalReference id="155757">
+                <Source>OMIM</Source>
+                <Reference>605955</Reference>
+              </ExternalReference>
+              <ExternalReference id="155758">
+                <Source>Genatlas</Source>
+                <Reference>NKX6-2</Reference>
+              </ExternalReference>
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+                <GeneLocus>10q26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>93110</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93110</ExpertLink>
+      <Name lang="en">Posterior urethral valve</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31051115[PMID]</SourceOfValidation>
+          <Gene id="28327">
+            <Name lang="en">basonuclin 2</Name>
+            <Symbol>BNC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BSN2</Synonym>
+              <Synonym lang="en">FLJ20043</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>30988</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173068</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6ZN30</Reference>
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+                <Reference>608669</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Severe myopia-generalized joint laxity-short stature syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28475863[PMID]</SourceOfValidation>
+          <Gene id="27592">
+            <Name lang="en">GDNF inducible zinc finger protein 1</Name>
+            <Symbol>GZF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ZBTB23</Synonym>
+              <Synonym lang="en">dJ322G13.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>15808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613842</Reference>
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+              <ExternalReference id="160625">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125812</Reference>
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+              <ExternalReference id="160626">
+                <Source>SwissProt</Source>
+                <Reference>Q9H116</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H116</Reference>
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+              <Locus id="49819">
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12163">
+      <OrphaCode>93100</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93100</ExpertLink>
+      <Name lang="en">Renal agenesis, unilateral</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21900877[PMID]_24429398[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
+              </ExternalReference>
+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
+              </ExternalReference>
+              <ExternalReference id="25386">
+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
+              </ExternalReference>
+              <ExternalReference id="82759">
+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
+              </ExternalReference>
+              <ExternalReference id="25385">
+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
+              </ExternalReference>
+              <ExternalReference id="33724">
+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24113">
+                <GeneLocus>10q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21900877[PMID]_24700879[PMID]</SourceOfValidation>
+          <Gene id="16071">
+            <Name lang="en">Fraser extracellular matrix complex subunit 1</Name>
+            <Symbol>FRAS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ14927</Synonym>
+              <Synonym lang="en">FLJ22031</Synonym>
+              <Synonym lang="en">KIAA1500</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57953">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138759</Reference>
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+              <ExternalReference id="29567">
+                <Source>Genatlas</Source>
+                <Reference>FRAS1</Reference>
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+              <ExternalReference id="29569">
+                <Source>HGNC</Source>
+                <Reference>19185</Reference>
+              </ExternalReference>
+              <ExternalReference id="29568">
+                <Source>OMIM</Source>
+                <Reference>607830</Reference>
+              </ExternalReference>
+              <ExternalReference id="33086">
+                <Source>SwissProt</Source>
+                <Reference>Q86XX4</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8585">
+                <GeneLocus>4q21.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21900877[PMID]</SourceOfValidation>
+          <Gene id="16937">
+            <Name lang="en">bone morphogenetic protein 4</Name>
+            <Symbol>BMP4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57137">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125378</Reference>
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+              <ExternalReference id="35786">
+                <Source>Genatlas</Source>
+                <Reference>BMP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="35785">
+                <Source>HGNC</Source>
+                <Reference>1071</Reference>
+              </ExternalReference>
+              <ExternalReference id="35784">
+                <Source>OMIM</Source>
+                <Reference>112262</Reference>
+              </ExternalReference>
+              <ExternalReference id="83059">
+                <Source>Reactome</Source>
+                <Reference>P12644</Reference>
+              </ExternalReference>
+              <ExternalReference id="35783">
+                <Source>SwissProt</Source>
+                <Reference>P12644</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22843">
+                <GeneLocus>14q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21900877[PMID]_24700879[PMID]</SourceOfValidation>
+          <Gene id="16072">
+            <Name lang="en">FRAS1 related extracellular matrix 2</Name>
+            <Symbol>FREM2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp686J0811</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="29573">
+                <Source>HGNC</Source>
+                <Reference>25396</Reference>
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+              <ExternalReference id="29572">
+                <Source>OMIM</Source>
+                <Reference>608945</Reference>
+              </ExternalReference>
+              <ExternalReference id="33087">
+                <Source>SwissProt</Source>
+                <Reference>Q5SZK8</Reference>
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+              <ExternalReference id="57952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150893</Reference>
+              </ExternalReference>
+              <ExternalReference id="36924">
+                <Source>Genatlas</Source>
+                <Reference>FREM2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8587">
+                <GeneLocus>13q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24370773[PMID]_20807610[PMID]</SourceOfValidation>
+          <Gene id="18924">
+            <Name lang="en">FRAS1 related extracellular matrix 1</Name>
+            <Symbol>FREM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">C9orf143</Synonym>
+              <Synonym lang="en">C9orf145</Synonym>
+              <Synonym lang="en">DKFZp686M16108</Synonym>
+              <Synonym lang="en">FLJ25461</Synonym>
+              <Synonym lang="en">TILRR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58268">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164946</Reference>
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+              <ExternalReference id="44062">
+                <Source>Genatlas</Source>
+                <Reference>FREM1</Reference>
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+              <ExternalReference id="44063">
+                <Source>HGNC</Source>
+                <Reference>23399</Reference>
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+              <ExternalReference id="44064">
+                <Source>OMIM</Source>
+                <Reference>608944</Reference>
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+              <ExternalReference id="44065">
+                <Source>SwissProt</Source>
+                <Reference>Q5H8C1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10917">
+                <GeneLocus>9p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15888565[PMID]</SourceOfValidation>
+          <Gene id="20162">
+            <Name lang="en">uroplakin 3A</Name>
+            <Symbol>UPK3A</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58313">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100373</Reference>
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+              <ExternalReference id="51768">
+                <Source>Genatlas</Source>
+                <Reference>UPK3A</Reference>
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+              <ExternalReference id="51766">
+                <Source>HGNC</Source>
+                <Reference>12580</Reference>
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+              <ExternalReference id="51767">
+                <Source>OMIM</Source>
+                <Reference>611559</Reference>
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+              <ExternalReference id="51769">
+                <Source>SwissProt</Source>
+                <Reference>O75631</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>22q13.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23862974[PMID]_17273976[PMID]</SourceOfValidation>
+          <Gene id="22961">
+            <Name lang="en">dual serine/threonine and tyrosine protein kinase</Name>
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+            <SynonymList count="3">
+              <Synonym lang="en">DustyPK</Synonym>
+              <Synonym lang="en">KIAA0472</Synonym>
+              <Synonym lang="en">RIP5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91672">
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+                <Reference>ENSG00000133059</Reference>
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+              <ExternalReference id="91515">
+                <Source>Genatlas</Source>
+                <Reference>DSTYK</Reference>
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+              <ExternalReference id="91513">
+                <Source>HGNC</Source>
+                <Reference>29043</Reference>
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+              <ExternalReference id="91673">
+                <Source>IUPHAR</Source>
+                <Reference>2008</Reference>
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+              <ExternalReference id="91514">
+                <Source>OMIM</Source>
+                <Reference>612666</Reference>
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+              <ExternalReference id="91516">
+                <Source>SwissProt</Source>
+                <Reference>Q6XUX3</Reference>
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+              <Locus id="20643">
+                <GeneLocus>1q32.1</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100090[PMID]_29100091[PMID]</SourceOfValidation>
+          <Gene id="24575">
+            <Name lang="en">GREB1 like retinoic acid receptor coactivator</Name>
+            <Symbol>GREB1L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">C18orf6</Synonym>
+              <Synonym lang="en">FLJ13687</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="131392">
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+              <ExternalReference id="132850">
+                <Source>SwissProt</Source>
+                <Reference>Q9C091</Reference>
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+              <ExternalReference id="133909">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141449</Reference>
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+              <ExternalReference id="143509">
+                <Source>Genatlas</Source>
+                <Reference>GREB1L</Reference>
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+                <Source>OMIM</Source>
+                <Reference>617782</Reference>
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+                <GeneLocus>18q11.1-q11.2</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=527468</ExpertLink>
+      <Name lang="en">Diaphragmatic hernia-short bowel-asplenia syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28898547[PMID]</SourceOfValidation>
+          <Gene id="27591">
+            <Name lang="en">H2.0 like homeobox</Name>
+            <Symbol>HLX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HB24</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="160616">
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+                <Reference>4978</Reference>
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+              <ExternalReference id="160617">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136630</Reference>
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+              <ExternalReference id="160618">
+                <Source>SwissProt</Source>
+                <Reference>Q14774</Reference>
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+              <ExternalReference id="160619">
+                <Source>Reactome</Source>
+                <Reference>Q14774</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142995</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Congenital tufting enteropathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18572020[PMID]</SourceOfValidation>
+          <Gene id="19023">
+            <Name lang="en">epithelial cell adhesion molecule</Name>
+            <Symbol>EPCAM</Symbol>
+            <SynonymList count="20">
+              <Synonym lang="en">17-1A</Synonym>
+              <Synonym lang="en">323/A3</Synonym>
+              <Synonym lang="en">CD326</Synonym>
+              <Synonym lang="en">CO-17A</Synonym>
+              <Synonym lang="en">EGP-2</Synonym>
+              <Synonym lang="en">EGP34</Synonym>
+              <Synonym lang="en">EGP40</Synonym>
+              <Synonym lang="en">ESA</Synonym>
+              <Synonym lang="en">Ep-CAM</Synonym>
+              <Synonym lang="en">GA733-2</Synonym>
+              <Synonym lang="en">HEA125</Synonym>
+              <Synonym lang="en">KS1/4</Synonym>
+              <Synonym lang="en">KSA</Synonym>
+              <Synonym lang="en">Ly74</Synonym>
+              <Synonym lang="en">MH99</Synonym>
+              <Synonym lang="en">MK-1</Synonym>
+              <Synonym lang="en">MOC31</Synonym>
+              <Synonym lang="en">TACST-1</Synonym>
+              <Synonym lang="en">TROP1</Synonym>
+              <Synonym lang="en">trophoblast cell surface antigen 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58409">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119888</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>EPCAM</Reference>
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+                <Reference>11529</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P16422</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>36076104[PMID]</SourceOfValidation>
+          <Gene id="28729">
+            <Name lang="en">proline and glutamate rich with coiled coil 1</Name>
+            <Symbol>PERCC1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="179454">
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+                <Reference>52293</Reference>
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+              <ExternalReference id="179455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000284395</Reference>
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+              <ExternalReference id="179456">
+                <Source>OMIM</Source>
+                <Reference>618656</Reference>
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+              <ExternalReference id="201584">
+                <Source>SwissProt</Source>
+                <Reference>A0A1W2PR82</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12173">
+      <OrphaCode>93160</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93160</ExpertLink>
+      <Name lang="en">Hypocalcemic vitamin D-resistant rickets</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9284761[PMID]</SourceOfValidation>
+          <Gene id="15707">
+            <Name lang="en">vitamin D receptor</Name>
+            <Symbol>VDR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">1,25- dihydroxyvitamin D3 receptor</Synonym>
+              <Synonym lang="en">NR1I1</Synonym>
+              <Synonym lang="en">PPP1R163</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 163</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111424</Reference>
+              </ExternalReference>
+              <ExternalReference id="27811">
+                <Source>Genatlas</Source>
+                <Reference>VDR</Reference>
+              </ExternalReference>
+              <ExternalReference id="27813">
+                <Source>HGNC</Source>
+                <Reference>12679</Reference>
+              </ExternalReference>
+              <ExternalReference id="82852">
+                <Source>IUPHAR</Source>
+                <Reference>605</Reference>
+              </ExternalReference>
+              <ExternalReference id="27812">
+                <Source>OMIM</Source>
+                <Reference>601769</Reference>
+              </ExternalReference>
+              <ExternalReference id="59657">
+                <Source>Reactome</Source>
+                <Reference>P11473</Reference>
+              </ExternalReference>
+              <ExternalReference id="32679">
+                <Source>SwissProt</Source>
+                <Reference>P11473</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15865">
+                <GeneLocus>12q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12169">
+      <OrphaCode>93114</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93114</ExpertLink>
+      <Name lang="en">Autosomal dominant intermediate Charcot-Marie-Tooth disease type E</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22187985[PMID]</SourceOfValidation>
+          <Gene id="18996">
+            <Name lang="en">inverted formin, FH2 and WH2 domain containing</Name>
+            <Symbol>INF2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC13251</Synonym>
+              <Synonym lang="en">inverted formin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59662">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203485</Reference>
+              </ExternalReference>
+              <ExternalReference id="44578">
+                <Source>Genatlas</Source>
+                <Reference>INF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="44579">
+                <Source>HGNC</Source>
+                <Reference>23791</Reference>
+              </ExternalReference>
+              <ExternalReference id="44580">
+                <Source>OMIM</Source>
+                <Reference>610982</Reference>
+              </ExternalReference>
+              <ExternalReference id="44581">
+                <Source>SwissProt</Source>
+                <Reference>Q27J81</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10993">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12168">
+      <OrphaCode>93111</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93111</ExpertLink>
+      <Name lang="en">HNF1B-related autosomal dominant tubulointerstitial kidney disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]</SourceOfValidation>
+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HNF1beta</Synonym>
+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
+              </ExternalReference>
+              <ExternalReference id="36402">
+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
+              </ExternalReference>
+              <ExternalReference id="36404">
+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
+              </ExternalReference>
+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
+              </ExternalReference>
+              <ExternalReference id="36405">
+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14481">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12177">
+      <OrphaCode>93172</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93172</ExpertLink>
+      <Name lang="en">Renal dysplasia, unilateral</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28566479[PMID]</SourceOfValidation>
+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HNF1beta</Synonym>
+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
+              </ExternalReference>
+              <ExternalReference id="36402">
+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
+              </ExternalReference>
+              <ExternalReference id="36404">
+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
+              </ExternalReference>
+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
+              </ExternalReference>
+              <ExternalReference id="36405">
+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14481">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="12178">
+      <OrphaCode>93173</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93173</ExpertLink>
+      <Name lang="en">Renal dysplasia, bilateral</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28566479[PMID]</SourceOfValidation>
+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HNF1beta</Synonym>
+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
+              </ExternalReference>
+              <ExternalReference id="36402">
+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
+              </ExternalReference>
+              <ExternalReference id="36404">
+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
+              </ExternalReference>
+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
+              </ExternalReference>
+              <ExternalReference id="36405">
+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
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+            <LocusList count="1">
+              <Locus id="14481">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12259">
+      <OrphaCode>93322</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93322</ExpertLink>
+      <Name lang="en">Tibial hemimelia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26791356[PMID]</SourceOfValidation>
+          <Gene id="16139">
+            <Name lang="en">GLI family zinc finger 3</Name>
+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106571</Reference>
+              </ExternalReference>
+              <ExternalReference id="29898">
+                <Source>Genatlas</Source>
+                <Reference>GLI3</Reference>
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+              <ExternalReference id="29896">
+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
+              </ExternalReference>
+              <ExternalReference id="29895">
+                <Source>OMIM</Source>
+                <Reference>165240</Reference>
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+              <ExternalReference id="97225">
+                <Source>Reactome</Source>
+                <Reference>P10071</Reference>
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+              <ExternalReference id="33155">
+                <Source>SwissProt</Source>
+                <Reference>P10071</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12258">
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+      <Name lang="en">Radial hemimelia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>26394607[PMID]</SourceOfValidation>
+          <Gene id="16363">
+            <Name lang="en">limb development membrane protein 1</Name>
+            <Symbol>LMBR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ACHP</Synonym>
+              <Synonym lang="en">FLJ11665</Synonym>
+              <Synonym lang="en">ZRS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105983</Reference>
+              </ExternalReference>
+              <ExternalReference id="36540">
+                <Source>Genatlas</Source>
+                <Reference>LMBR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30958">
+                <Source>HGNC</Source>
+                <Reference>13243</Reference>
+              </ExternalReference>
+              <ExternalReference id="30957">
+                <Source>OMIM</Source>
+                <Reference>605522</Reference>
+              </ExternalReference>
+              <ExternalReference id="33428">
+                <Source>SwissProt</Source>
+                <Reference>Q8WVP7</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q36.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26394607[PMID]</SourceOfValidation>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
+              </ExternalReference>
+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
+              </ExternalReference>
+              <ExternalReference id="25809">
+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
+              </ExternalReference>
+              <ExternalReference id="25808">
+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
+              </ExternalReference>
+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
+              </ExternalReference>
+              <ExternalReference id="33848">
+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="12262">
+      <OrphaCode>93325</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93325</ExpertLink>
+      <Name lang="en">Autosomal dominant Kenny-Caffey syndrome</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23684011[PMID]</SourceOfValidation>
+          <Gene id="22200">
+            <Name lang="en">FAM111 trypsin like peptidase A</Name>
+            <Symbol>FAM111A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ22794</Synonym>
+              <Synonym lang="en">KIAA1895</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83892">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166801</Reference>
+              </ExternalReference>
+              <ExternalReference id="80101">
+                <Source>Genatlas</Source>
+                <Reference>FAM111A</Reference>
+              </ExternalReference>
+              <ExternalReference id="80099">
+                <Source>HGNC</Source>
+                <Reference>24725</Reference>
+              </ExternalReference>
+              <ExternalReference id="80100">
+                <Source>OMIM</Source>
+                <Reference>615292</Reference>
+              </ExternalReference>
+              <ExternalReference id="80102">
+                <Source>SwissProt</Source>
+                <Reference>Q96PZ2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12669">
+                <GeneLocus>11q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12261">
+      <OrphaCode>93324</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93324</ExpertLink>
+      <Name lang="en">Autosomal recessive Kenny-Caffey syndrome</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12389028[PMID]</SourceOfValidation>
+          <Gene id="15581">
+            <Name lang="en">tubulin folding cofactor E</Name>
+            <Symbol>TBCE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KCS1</Synonym>
+              <Synonym lang="en">pac2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11582</Reference>
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+              <ExternalReference id="27213">
+                <Source>OMIM</Source>
+                <Reference>604934</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q15813</Reference>
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+              <ExternalReference id="32552">
+                <Source>SwissProt</Source>
+                <Reference>Q15813</Reference>
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+              <ExternalReference id="27216">
+                <Source>Genatlas</Source>
+                <Reference>TBCE</Reference>
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+              <ExternalReference id="189375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000284770</Reference>
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+            <LocusList count="1">
+              <Locus id="58571">
+                <GeneLocus>1q42.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12265">
+      <OrphaCode>93329</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93329</ExpertLink>
+      <Name lang="en">Autosomal recessive omodysplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19481194[PMID]</SourceOfValidation>
+          <Gene id="18465">
+            <Name lang="en">glypican 6</Name>
+            <Symbol>GPC6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">glypican proteoglycan 6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9Y625</Reference>
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+              <ExternalReference id="59681">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183098</Reference>
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+              <ExternalReference id="42418">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4454</Reference>
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+                <Reference>604404</Reference>
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+              <ExternalReference id="83146">
+                <Source>Reactome</Source>
+                <Reference>Q9Y625</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12264">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93328</ExpertLink>
+      <Name lang="en">Autosomal dominant omodysplasia</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25759469[PMID]</SourceOfValidation>
+          <Gene id="23281">
+            <Name lang="en">frizzled class receptor 2</Name>
+            <Symbol>FZD2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95998">
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+                <Source>OMIM</Source>
+                <Reference>600667</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14332</Reference>
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+              <ExternalReference id="95995">
+                <Source>SwissProt</Source>
+                <Reference>Q14332</Reference>
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+              <ExternalReference id="95997">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180340</Reference>
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+              <ExternalReference id="95994">
+                <Source>Genatlas</Source>
+                <Reference>FZD2</Reference>
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+              <ExternalReference id="95992">
+                <Source>HGNC</Source>
+                <Reference>4040</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12271">
+      <OrphaCode>93336</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93336</ExpertLink>
+      <Name lang="en">Polydactyly of a triphalangeal thumb</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26394607[PMID]</SourceOfValidation>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
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+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+              <ExternalReference id="25809">
+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
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+                <Reference>600725</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">limb development membrane protein 1</Name>
+            <Symbol>LMBR1</Symbol>
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+              <Synonym lang="en">FLJ11665</Synonym>
+              <Synonym lang="en">ZRS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>13243</Reference>
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+                <Reference>Q8WVP7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">GLI family zinc finger 1</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">PAPB</Synonym>
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+                <Source>Reactome</Source>
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+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106571</Reference>
+              </ExternalReference>
+              <ExternalReference id="29898">
+                <Source>Genatlas</Source>
+                <Reference>GLI3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29896">
+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
+              </ExternalReference>
+              <ExternalReference id="29895">
+                <Source>OMIM</Source>
+                <Reference>165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="97225">
+                <Source>Reactome</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+              <ExternalReference id="33155">
+                <Source>SwissProt</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21229">
+                <GeneLocus>7p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30395363[PMID]</SourceOfValidation>
+          <Gene id="27692">
+            <Name lang="en">CBY1 interacting BAR domain containing 1</Name>
+            <Symbol>CIBAR1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BARMR1</Synonym>
+              <Synonym lang="en">FLJ38979</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="161200">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188343</Reference>
+              </ExternalReference>
+              <ExternalReference id="161201">
+                <Source>HGNC</Source>
+                <Reference>30452</Reference>
+              </ExternalReference>
+              <ExternalReference id="161202">
+                <Source>SwissProt</Source>
+                <Reference>A1XBS5</Reference>
+              </ExternalReference>
+              <ExternalReference id="161203">
+                <Source>Reactome</Source>
+                <Reference>A1XBS5</Reference>
+              </ExternalReference>
+              <ExternalReference id="161204">
+                <Source>OMIM</Source>
+                <Reference>617273</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50117">
+                <GeneLocus>8q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12268">
+      <OrphaCode>93333</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93333</ExpertLink>
+      <Name lang="en">Pelviscapular dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19068278[PMID]_24039145[PMID]</SourceOfValidation>
+          <Gene id="17879">
+            <Name lang="en">T-box transcription factor 15</Name>
+            <Symbol>TBX15</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59682">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092607</Reference>
+              </ExternalReference>
+              <ExternalReference id="39942">
+                <Source>Genatlas</Source>
+                <Reference>TBX15</Reference>
+              </ExternalReference>
+              <ExternalReference id="39943">
+                <Source>HGNC</Source>
+                <Reference>11594</Reference>
+              </ExternalReference>
+              <ExternalReference id="39944">
+                <Source>OMIM</Source>
+                <Reference>604127</Reference>
+              </ExternalReference>
+              <ExternalReference id="39945">
+                <Source>SwissProt</Source>
+                <Reference>Q96SF7</Reference>
+              </ExternalReference>
+              <ExternalReference id="143861">
+                <Source>Reactome</Source>
+                <Reference>Q96SF7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39187">
+                <GeneLocus>1p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12274">
+      <OrphaCode>93339</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93339</ExpertLink>
+      <Name lang="en">Polydactyly of a biphalangeal thumb</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30620395[PMID]</SourceOfValidation>
+          <Gene id="26044">
+            <Name lang="en">GLI family zinc finger 1</Name>
+            <Symbol>GLI1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="151235">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111087</Reference>
+              </ExternalReference>
+              <ExternalReference id="151236">
+                <Source>SwissProt</Source>
+                <Reference>P08151</Reference>
+              </ExternalReference>
+              <ExternalReference id="151237">
+                <Source>OMIM</Source>
+                <Reference>165220</Reference>
+              </ExternalReference>
+              <ExternalReference id="151239">
+                <Source>Reactome</Source>
+                <Reference>P08151</Reference>
+              </ExternalReference>
+              <ExternalReference id="151234">
+                <Source>HGNC</Source>
+                <Reference>4317</Reference>
+              </ExternalReference>
+              <ExternalReference id="151238">
+                <Source>Genatlas</Source>
+                <Reference>GLI1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="43059">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12273">
+      <OrphaCode>93338</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93338</ExpertLink>
+      <Name lang="en">Polysyndactyly</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26394607[PMID]</SourceOfValidation>
+          <Gene id="16139">
+            <Name lang="en">GLI family zinc finger 3</Name>
+            <Symbol>GLI3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ACLS</Synonym>
+              <Synonym lang="en">DNA-binding protein</Synonym>
+              <Synonym lang="en">PAP-A</Synonym>
+              <Synonym lang="en">PAPA</Synonym>
+              <Synonym lang="en">PAPA1</Synonym>
+              <Synonym lang="en">PAPB</Synonym>
+              <Synonym lang="en">PPDIV</Synonym>
+              <Synonym lang="en">oncogene GLI3</Synonym>
+              <Synonym lang="en">zinc finger protein GLI3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57239">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106571</Reference>
+              </ExternalReference>
+              <ExternalReference id="29898">
+                <Source>Genatlas</Source>
+                <Reference>GLI3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29896">
+                <Source>HGNC</Source>
+                <Reference>4319</Reference>
+              </ExternalReference>
+              <ExternalReference id="29895">
+                <Source>OMIM</Source>
+                <Reference>165240</Reference>
+              </ExternalReference>
+              <ExternalReference id="97225">
+                <Source>Reactome</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+              <ExternalReference id="33155">
+                <Source>SwissProt</Source>
+                <Reference>P10071</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21229">
+                <GeneLocus>7p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12283">
+      <OrphaCode>93349</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93349</ExpertLink>
+      <Name lang="en">X-linked spondyloepimetaphyseal dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27236923[PMID]</SourceOfValidation>
+          <Gene id="23903">
+            <Name lang="en">biglycan</Name>
+            <Symbol>BGN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DSPG1</Synonym>
+              <Synonym lang="en">SLRR1A</Synonym>
+              <Synonym lang="en">biglycan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103959">
+                <Source>HGNC</Source>
+                <Reference>1044</Reference>
+              </ExternalReference>
+              <ExternalReference id="103960">
+                <Source>OMIM</Source>
+                <Reference>301870</Reference>
+              </ExternalReference>
+              <ExternalReference id="103961">
+                <Source>Genatlas</Source>
+                <Reference>BGN</Reference>
+              </ExternalReference>
+              <ExternalReference id="103962">
+                <Source>SwissProt</Source>
+                <Reference>P21810</Reference>
+              </ExternalReference>
+              <ExternalReference id="103963">
+                <Source>Reactome</Source>
+                <Reference>P21810</Reference>
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+              <ExternalReference id="103964">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182492</Reference>
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+            <LocusList count="1">
+              <Locus id="20317">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12280">
+      <OrphaCode>93346</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93346</ExpertLink>
+      <Name lang="en">Spondyloepimetaphyseal dysplasia congenita, Strudwick type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7550321[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
+              </ExternalReference>
+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>12q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12281">
+      <OrphaCode>93347</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93347</ExpertLink>
+      <Name lang="en">Anauxetic dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22420014[PMID]</SourceOfValidation>
+          <Gene id="16831">
+            <Name lang="en">RNA component of mitochondrial RNA processing endoribonuclease</Name>
+            <Symbol>RMRP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NME1</Synonym>
+              <Synonym lang="en">RMRPR</Synonym>
+              <Synonym lang="en">RRP2</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="96056">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277027</Reference>
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+              <ExternalReference id="35160">
+                <Source>Genatlas</Source>
+                <Reference>RMRP</Reference>
+              </ExternalReference>
+              <ExternalReference id="35158">
+                <Source>HGNC</Source>
+                <Reference>10031</Reference>
+              </ExternalReference>
+              <ExternalReference id="35159">
+                <Source>OMIM</Source>
+                <Reference>157660</Reference>
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+                <GeneLocus>9p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21455487[PMID]</SourceOfValidation>
+          <Gene id="20143">
+            <Name lang="en">POP1 homolog, ribonuclease P/MRP subunit</Name>
+            <Symbol>POP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">processing of precursors 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59683">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104356</Reference>
+              </ExternalReference>
+              <ExternalReference id="51472">
+                <Source>Genatlas</Source>
+                <Reference>POP1</Reference>
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+              <ExternalReference id="51470">
+                <Source>HGNC</Source>
+                <Reference>30129</Reference>
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+              <ExternalReference id="51471">
+                <Source>OMIM</Source>
+                <Reference>602486</Reference>
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+              <ExternalReference id="97302">
+                <Source>Reactome</Source>
+                <Reference>Q99575</Reference>
+              </ExternalReference>
+              <ExternalReference id="51473">
+                <Source>SwissProt</Source>
+                <Reference>Q99575</Reference>
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+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31250547[PMID]</SourceOfValidation>
+          <Gene id="29283">
+            <Name lang="en">nucleolus and neural progenitor protein</Name>
+            <Symbol>NEPRO</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP434F2021</Synonym>
+              <Synonym lang="en">NET17</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="184296">
+                <Source>SwissProt</Source>
+                <Reference>Q6NW34</Reference>
+              </ExternalReference>
+              <ExternalReference id="184297">
+                <Source>OMIM</Source>
+                <Reference>617089</Reference>
+              </ExternalReference>
+              <ExternalReference id="184294">
+                <Source>HGNC</Source>
+                <Reference>24496</Reference>
+              </ExternalReference>
+              <ExternalReference id="184295">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163608</Reference>
+              </ExternalReference>
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+              <Locus id="55459">
+                <GeneLocus>3q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12287">
+      <OrphaCode>93356</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93356</ExpertLink>
+      <Name lang="en">Spondyloepimetaphyseal dysplasia, Missouri type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16452">
+            <Name lang="en">matrix metallopeptidase 13</Name>
+            <Symbol>MMP13</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CLG3</Synonym>
+              <Synonym lang="en">collagenase 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58018">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137745</Reference>
+              </ExternalReference>
+              <ExternalReference id="31366">
+                <Source>Genatlas</Source>
+                <Reference>MMP13</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>7159</Reference>
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+              <ExternalReference id="82999">
+                <Source>IUPHAR</Source>
+                <Reference>1637</Reference>
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+                <Reference>600108</Reference>
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+              <ExternalReference id="58019">
+                <Source>Reactome</Source>
+                <Reference>P45452</Reference>
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+              <ExternalReference id="33515">
+                <Source>SwissProt</Source>
+                <Reference>P45452</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12285">
+      <OrphaCode>93352</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93352</ExpertLink>
+      <Name lang="en">Spondyloepimetaphyseal dysplasia, Shohat type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28263186[PMID]</SourceOfValidation>
+          <Gene id="25449">
+            <Name lang="en">DDRGK domain containing 1</Name>
+            <Symbol>DDRGK1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Dashurin</Synonym>
+              <Synonym lang="en">UFBP1</Synonym>
+              <Synonym lang="en">dJ1187M17.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q96HY6</Reference>
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+              <ExternalReference id="156948">
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+                <Reference>616177</Reference>
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+              <ExternalReference id="156949">
+                <Source>Genatlas</Source>
+                <Reference>DDRGK1</Reference>
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+                <Reference>16110</Reference>
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+                <Reference>ENSG00000198171</Reference>
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+      <Name lang="en">Spondyloepiphyseal dysplasia tarda</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">trafficking protein particle complex subunit 2</Name>
+            <Symbol>TRAPPC2</Symbol>
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+              <Synonym lang="en">MIP-2A</Synonym>
+              <Synonym lang="en">SEDT</Synonym>
+              <Synonym lang="en">TRS20</Synonym>
+              <Synonym lang="en">ZNF547L</Synonym>
+              <Synonym lang="en">hYP38334</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196459</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TRAPPC2</Reference>
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+              <ExternalReference id="27564">
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+                <Reference>23068</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P0DI81</Reference>
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+      <Name lang="en">Achondrogenesis type 2</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">cartilage oligomeric matrix protein</Name>
+            <Symbol>COMP</Symbol>
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+                <Source>OMIM</Source>
+                <Reference>600310</Reference>
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+              <ExternalReference id="82868">
+                <Source>Reactome</Source>
+                <Reference>P49747</Reference>
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+              <ExternalReference id="32759">
+                <Source>SwissProt</Source>
+                <Reference>P49747</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23617">
+                <GeneLocus>19p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12248">
+      <OrphaCode>93311</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93311</ExpertLink>
+      <Name lang="en">Multiple epiphyseal dysplasia type 5</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301302[PMID]</SourceOfValidation>
+          <Gene id="16381">
+            <Name lang="en">matrilin 3</Name>
+            <Symbol>MATN3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EDM5</Synonym>
+              <Synonym lang="en">HOA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33445">
+                <Source>SwissProt</Source>
+                <Reference>O15232</Reference>
+              </ExternalReference>
+              <ExternalReference id="59680">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132031</Reference>
+              </ExternalReference>
+              <ExternalReference id="31042">
+                <Source>Genatlas</Source>
+                <Reference>MATN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31040">
+                <Source>HGNC</Source>
+                <Reference>6909</Reference>
+              </ExternalReference>
+              <ExternalReference id="31039">
+                <Source>OMIM</Source>
+                <Reference>602109</Reference>
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+              <ExternalReference id="82987">
+                <Source>Reactome</Source>
+                <Reference>O15232</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="12251">
+      <OrphaCode>93314</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93314</ExpertLink>
+      <Name lang="en">Spondylometaphyseal dysplasia, Kozlowski type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24830047[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
+              </ExternalReference>
+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
+                <Reference>TRPV4</Reference>
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+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
+              </ExternalReference>
+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
+              </ExternalReference>
+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+              <ExternalReference id="82619">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
+              </ExternalReference>
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+                <GeneLocus>12q24.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12252">
+      <OrphaCode>93315</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93315</ExpertLink>
+      <Name lang="en">Spondylometaphyseal dysplasia, 'corner fracture' type</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17163530[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
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+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29100092[PMID]</SourceOfValidation>
+          <Gene id="17365">
+            <Name lang="en">fibronectin 1</Name>
+            <Symbol>FN1</Symbol>
+            <SynonymList count="9">
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+              <Synonym lang="en">Cold-insoluble globulin</Synonym>
+              <Synonym lang="en">FINC</Synonym>
+              <Synonym lang="en">GFND2</Synonym>
+              <Synonym lang="en">LETS</Synonym>
+              <Synonym lang="en">MSF</Synonym>
+              <Synonym lang="en">Migration-stimulating factor</Synonym>
+              <Synonym lang="en">cold-insoluble globulin</Synonym>
+              <Synonym lang="en">migration-stimulating factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59443">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115414</Reference>
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+                <Reference>FN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3778</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59444">
+                <Source>Reactome</Source>
+                <Reference>P02751</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02751</Reference>
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+      <Name lang="en">Spondylometaphyseal dysplasia, Schmidt type</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">collagen type II alpha 1 chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57721">
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+                <Reference>ENSG00000139219</Reference>
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+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+      <Name lang="en">Spondylometaphyseal dysplasia, Sedaghatian type</Name>
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+            <Name lang="en">glutathione peroxidase 4</Name>
+            <Symbol>GPX4</Symbol>
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+              <Synonym lang="en">PHGPx</Synonym>
+              <Synonym lang="en">phospholipid hydroperoxidase</Synonym>
+              <Synonym lang="en">selenoprotein GPX4</Synonym>
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+                <Source>Reactome</Source>
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+                <Reference>P36969</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167468</Reference>
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+            <Name lang="en">bromodomain PHD finger transcription factor</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171634</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12830</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q12830</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2723</Reference>
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+                <Reference>ENSG00000197170</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Hypothyroidism due to TSH receptor mutations</Name>
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+            <Name lang="en">thyroid stimulating hormone receptor</Name>
+            <Symbol>TSHR</Symbol>
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+                <Reference>ENSG00000165409</Reference>
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+                <Reference>TSHR</Reference>
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+                <Reference>12373</Reference>
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+                <Reference>255</Reference>
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+      <Name lang="en">Isolated thyroid-stimulating hormone deficiency</Name>
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+          <SourceOfValidation>12930599[PMID]_20537182[PMID]_22851492[PMID]</SourceOfValidation>
+          <Gene id="17670">
+            <Name lang="en">thyroid stimulating hormone subunit beta</Name>
+            <Symbol>TSHB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">thyrotropin subunit beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59634">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134200</Reference>
+              </ExternalReference>
+              <ExternalReference id="38837">
+                <Source>Genatlas</Source>
+                <Reference>TSHB</Reference>
+              </ExternalReference>
+              <ExternalReference id="38838">
+                <Source>HGNC</Source>
+                <Reference>12372</Reference>
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+              <ExternalReference id="38839">
+                <Source>OMIM</Source>
+                <Reference>188540</Reference>
+              </ExternalReference>
+              <ExternalReference id="59635">
+                <Source>Reactome</Source>
+                <Reference>P01222</Reference>
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+              <ExternalReference id="38840">
+                <Source>SwissProt</Source>
+                <Reference>P01222</Reference>
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+            <LocusList count="1">
+              <Locus id="22501">
+                <GeneLocus>1p13.2</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="27624">
+      <OrphaCode>529831</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=529831</ExpertLink>
+      <Name lang="en">Letrozole toxicity</Name>
+      <DisorderType id="21429">
+        <Name lang="en">Particular clinical situation in a disease or syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29194389[PMID]</SourceOfValidation>
+          <Gene id="27841">
+            <Name lang="en">cytochrome P450 family 2 subfamily A member 6</Name>
+            <Symbol>CYP2A6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CPA6</Synonym>
+              <Synonym lang="en">CYP2A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="161793">
+                <Source>OMIM</Source>
+                <Reference>122720</Reference>
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+              <ExternalReference id="161788">
+                <Source>HGNC</Source>
+                <Reference>2610</Reference>
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+              <ExternalReference id="161789">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000255974</Reference>
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+              <ExternalReference id="161790">
+                <Source>SwissProt</Source>
+                <Reference>P11509</Reference>
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+              <ExternalReference id="161791">
+                <Source>Reactome</Source>
+                <Reference>P11509</Reference>
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+              <ExternalReference id="161792">
+                <Source>IUPHAR</Source>
+                <Reference>1321</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Biomarker tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="27621">
+      <OrphaCode>529819</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=529819</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Exfoliation syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17690259[PMID]</SourceOfValidation>
+          <Gene id="24677">
+            <Name lang="en">lysyl oxidase like 1</Name>
+            <Symbol>LOXL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LOL</Synonym>
+              <Synonym lang="en">LOXL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="131494">
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+                <Reference>6665</Reference>
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+              <ExternalReference id="133423">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129038</Reference>
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+              <ExternalReference id="134392">
+                <Source>Reactome</Source>
+                <Reference>Q08397</Reference>
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+              <ExternalReference id="142816">
+                <Source>Genatlas</Source>
+                <Reference>LOXL1</Reference>
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+              <ExternalReference id="132226">
+                <Source>OMIM</Source>
+                <Reference>153456</Reference>
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+              <ExternalReference id="132952">
+                <Source>SwissProt</Source>
+                <Reference>Q08397</Reference>
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+                <GeneLocus>15q24.1</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12066">
+      <OrphaCode>90658</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90658</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 1E</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301384[PMID]</SourceOfValidation>
+          <Gene id="15114">
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+            <Symbol>PMP22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
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+              <Synonym lang="en">Sp110</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143117">
+                <Source>Reactome</Source>
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+              <ExternalReference id="56949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
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+              <ExternalReference id="24974">
+                <Source>Genatlas</Source>
+                <Reference>PMP22</Reference>
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+              <ExternalReference id="24976">
+                <Source>HGNC</Source>
+                <Reference>9118</Reference>
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+                <Reference>601097</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01453</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="12095">
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+      <Name lang="en">Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency</Name>
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+            <Name lang="en">hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2</Name>
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+                <Reference>ENSG00000203859</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Inflammatory bowel disease-recurrent sinopulmonary infections syndrome</Name>
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+                <Reference>604708</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137275</Reference>
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+      <Name lang="en">Non-acquired panhypopituitarism</Name>
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+                <Reference>ENSG00000134595</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="27633">
+      <OrphaCode>529970</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=529970</ExpertLink>
+      <Name lang="en">Male infertility due to acephalic spermatozoa</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30032984[PMID]</SourceOfValidation>
+          <Gene id="27794">
+            <Name lang="en">polyamine modulated factor 1 binding protein 1</Name>
+            <Symbol>PMFBP1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="161627">
+                <Source>HGNC</Source>
+                <Reference>17728</Reference>
+              </ExternalReference>
+              <ExternalReference id="161628">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118557</Reference>
+              </ExternalReference>
+              <ExternalReference id="161629">
+                <Source>SwissProt</Source>
+                <Reference>Q8TBY8</Reference>
+              </ExternalReference>
+              <ExternalReference id="161630">
+                <Source>Reactome</Source>
+                <Reference>Q8TBY8</Reference>
+              </ExternalReference>
+              <ExternalReference id="161631">
+                <Source>OMIM</Source>
+                <Reference>618085</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50299">
+                <GeneLocus>16q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27640305[PMID]</SourceOfValidation>
+          <Gene id="27795">
+            <Name lang="en">Sad1 and UNC84 domain containing 5</Name>
+            <Symbol>SUN5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">TSARG4</Synonym>
+              <Synonym lang="en">dJ726C3.1</Synonym>
+              <Synonym lang="en">testis and spermatogenesis related gene 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="161633">
+                <Source>HGNC</Source>
+                <Reference>16252</Reference>
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+              <ExternalReference id="161634">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167098</Reference>
+              </ExternalReference>
+              <ExternalReference id="161635">
+                <Source>SwissProt</Source>
+                <Reference>Q8TC36</Reference>
+              </ExternalReference>
+              <ExternalReference id="161636">
+                <Source>OMIM</Source>
+                <Reference>613942</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="50309">
+                <GeneLocus>20q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12045">
+      <OrphaCode>90625</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90625</ExpertLink>
+      <Name lang="en">X-linked non-syndromic sensorineural deafness type DFN</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15153">
+            <Name lang="en">phosphoribosyl pyrophosphate synthetase 1</Name>
+            <Symbol>PRPS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMTX5</Synonym>
+              <Synonym lang="en">DFNX1</Synonym>
+              <Synonym lang="en">PRS I</Synonym>
+              <Synonym lang="en">ribose-phosphate diphosphokinase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147224</Reference>
+              </ExternalReference>
+              <ExternalReference id="25164">
+                <Source>Genatlas</Source>
+                <Reference>PRPS1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25162">
+                <Source>HGNC</Source>
+                <Reference>9462</Reference>
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+              <ExternalReference id="25161">
+                <Source>OMIM</Source>
+                <Reference>311850</Reference>
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+              <ExternalReference id="58036">
+                <Source>Reactome</Source>
+                <Reference>P60891</Reference>
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+              <ExternalReference id="33264">
+                <Source>SwissProt</Source>
+                <Reference>P60891</Reference>
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+            <LocusList count="1">
+              <Locus id="6875">
+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23714752[PMID]</SourceOfValidation>
+          <Gene id="15775">
+            <Name lang="en">collagen type IV alpha 6 chain</Name>
+            <Symbol>COL4A6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28130">
+                <Source>HGNC</Source>
+                <Reference>2208</Reference>
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+              <ExternalReference id="28129">
+                <Source>OMIM</Source>
+                <Reference>303631</Reference>
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+              <ExternalReference id="82865">
+                <Source>Reactome</Source>
+                <Reference>Q14031</Reference>
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+              <ExternalReference id="32747">
+                <Source>SwissProt</Source>
+                <Reference>Q14031</Reference>
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+              <ExternalReference id="58685">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197565</Reference>
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+              <ExternalReference id="28128">
+                <Source>Genatlas</Source>
+                <Reference>COL4A6</Reference>
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+            <LocusList count="1">
+              <Locus id="20853">
+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="20202">
+            <Name lang="en">small muscle protein X-linked</Name>
+            <Symbol>SMPX</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Chisel</Synonym>
+              <Synonym lang="en">Csl</Synonym>
+              <Synonym lang="en">DFNX4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59564">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091482</Reference>
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+              <ExternalReference id="51888">
+                <Source>Genatlas</Source>
+                <Reference>SMPX</Reference>
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+              <ExternalReference id="51886">
+                <Source>HGNC</Source>
+                <Reference>11122</Reference>
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+              <ExternalReference id="51887">
+                <Source>OMIM</Source>
+                <Reference>300226</Reference>
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+              <ExternalReference id="51889">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHP9</Reference>
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+                <GeneLocus>Xp22.12</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12046">
+      <OrphaCode>90635</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90635</ExpertLink>
+      <Name lang="en">Autosomal dominant non-syndromic sensorineural deafness type DFNA</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="46">
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+          <SourceOfValidation>26522471[PMID]</SourceOfValidation>
+          <Gene id="18457">
+            <Name lang="en">KIT ligand</Name>
+            <Symbol>KITLG</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">DFNA69</Synonym>
+              <Synonym lang="en">FPH2</Synonym>
+              <Synonym lang="en">KL-1</Synonym>
+              <Synonym lang="en">Kitl</Synonym>
+              <Synonym lang="en">SCF</Synonym>
+              <Synonym lang="en">SF</Synonym>
+              <Synonym lang="en">SLF</Synonym>
+              <Synonym lang="en">familial progressive hyperpigmentation 2</Synonym>
+              <Synonym lang="en">mast cell growth factor</Synonym>
+              <Synonym lang="en">steel factor</Synonym>
+              <Synonym lang="en">stem cell factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59302">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049130</Reference>
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+              <ExternalReference id="42380">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6343</Reference>
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+                <Source>OMIM</Source>
+                <Reference>184745</Reference>
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+              <ExternalReference id="59303">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P21583</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34059922[PMID]</SourceOfValidation>
+          <Gene id="31366">
+            <Name lang="en">ubiquitin specific peptidase 48</Name>
+            <Symbol>USP48</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090686</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UV5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29182774[PMID]</SourceOfValidation>
+          <Gene id="26344">
+            <Name lang="en">single stranded DNA binding protein 1</Name>
+            <Symbol>SSBP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SSBP</Synonym>
+              <Synonym lang="en">mtSSB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11317</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106028</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q04837</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600439</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SSBP1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q04837</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31231791[PMID]</SourceOfValidation>
+          <Gene id="26771">
+            <Name lang="en">transformation/transcription domain associated protein</Name>
+            <Symbol>TRRAP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PAF400</Synonym>
+              <Synonym lang="en">TR-AP</Synonym>
+              <Synonym lang="en">Tra1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="200732">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4A5</Reference>
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+              <ExternalReference id="156492">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196367</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2256</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603015</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29860631[PMID]</SourceOfValidation>
+          <Gene id="27306">
+            <Name lang="en">phosphodiesterase 1C</Name>
+            <Symbol>PDE1C</Symbol>
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+              <Synonym lang="en">Hcam3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>8776</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154678</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>OMIM</Source>
+                <Reference>602987</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 44 member 4</Name>
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+              <Synonym lang="en">CTL4</Synonym>
+              <Synonym lang="en">DFNA72</Synonym>
+              <Synonym lang="en">FLJ14491</Synonym>
+              <Synonym lang="en">NG22</Synonym>
+              <Synonym lang="en">TPPT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>13941</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204385</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q53GD3</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606107</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC44A4</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15127">
+            <Name lang="en">POU class 4 homeobox 3</Name>
+            <Symbol>POU4F3</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q15319</Reference>
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+              <ExternalReference id="59579">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091010</Reference>
+              </ExternalReference>
+              <ExternalReference id="25039">
+                <Source>Genatlas</Source>
+                <Reference>POU4F3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9220</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602460</Reference>
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+              <ExternalReference id="33238">
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+                <Reference>Q15319</Reference>
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+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]</SourceOfValidation>
+          <Gene id="15295">
+            <Name lang="en">SIX homeobox 1</Name>
+            <Symbol>SIX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+              <ExternalReference id="25835">
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+                <Reference>10887</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601205</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15475</Reference>
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+              <ExternalReference id="143960">
+                <Source>Reactome</Source>
+                <Reference>Q15475</Reference>
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+                <Reference>ENSG00000126778</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15598">
+            <Name lang="en">tectorin alpha</Name>
+            <Symbol>TECTA</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109927</Reference>
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+              <ExternalReference id="27299">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11720</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602574</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75443</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O75443</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15626">
+            <Name lang="en">transmembrane channel like 1</Name>
+            <Symbol>TMC1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="27430">
+                <Source>OMIM</Source>
+                <Reference>606706</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TDI8</Reference>
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+              <ExternalReference id="59588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165091</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15721">
+            <Name lang="en">wolframin ER transmembrane glycoprotein</Name>
+            <Symbol>WFS1</Symbol>
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+              <Synonym lang="en">DIDMOAD</Synonym>
+              <Synonym lang="en">WFS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57698">
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+                <Reference>ENSG00000109501</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12762</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606201</Reference>
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+              <ExternalReference id="57699">
+                <Source>Reactome</Source>
+                <Reference>O76024</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O76024</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15760">
+            <Name lang="en">cochlin</Name>
+            <Symbol>COCH</Symbol>
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+              <Synonym lang="en">COCH-5B2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100473</Reference>
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+              <ExternalReference id="28058">
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+                <Reference>603196</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43405</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
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+            <Name lang="en">collagen type XI alpha 2 chain</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000204248</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120290</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P13942</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13942</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15859">
+            <Name lang="en">gasdermin E</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O60443</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105928</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16007">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16497">
+            <Name lang="en">myosin heavy chain 14</Name>
+            <Symbol>MYH14</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ13881</Synonym>
+              <Synonym lang="en">KIAA2034</Synonym>
+              <Synonym lang="en">MHC16</Synonym>
+              <Synonym lang="en">MYH17</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59577">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105357</Reference>
+              </ExternalReference>
+              <ExternalReference id="31574">
+                <Source>Genatlas</Source>
+                <Reference>MYH14</Reference>
+              </ExternalReference>
+              <ExternalReference id="31572">
+                <Source>HGNC</Source>
+                <Reference>23212</Reference>
+              </ExternalReference>
+              <ExternalReference id="31571">
+                <Source>OMIM</Source>
+                <Reference>608568</Reference>
+              </ExternalReference>
+              <ExternalReference id="59578">
+                <Source>Reactome</Source>
+                <Reference>Q7Z406</Reference>
+              </ExternalReference>
+              <ExternalReference id="33562">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z406</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9375">
+                <GeneLocus>19q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16503">
+            <Name lang="en">myosin heavy chain 9</Name>
+            <Symbol>MYH9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">EPSTS</Synonym>
+              <Synonym lang="en">FTNS</Synonym>
+              <Synonym lang="en">MHA</Synonym>
+              <Synonym lang="en">NMHC-II-A</Synonym>
+              <Synonym lang="en">NMMHCA</Synonym>
+              <Synonym lang="en">nonmuscle myosin heavy chain II-A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100345</Reference>
+              </ExternalReference>
+              <ExternalReference id="31604">
+                <Source>Genatlas</Source>
+                <Reference>MYH9</Reference>
+              </ExternalReference>
+              <ExternalReference id="31602">
+                <Source>HGNC</Source>
+                <Reference>7579</Reference>
+              </ExternalReference>
+              <ExternalReference id="31601">
+                <Source>OMIM</Source>
+                <Reference>160775</Reference>
+              </ExternalReference>
+              <ExternalReference id="57728">
+                <Source>Reactome</Source>
+                <Reference>P35579</Reference>
+              </ExternalReference>
+              <ExternalReference id="33568">
+                <Source>SwissProt</Source>
+                <Reference>P35579</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24457">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16509">
+            <Name lang="en">myosin VI</Name>
+            <Symbol>MYO6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0389</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59575">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196586</Reference>
+              </ExternalReference>
+              <ExternalReference id="31633">
+                <Source>Genatlas</Source>
+                <Reference>MYO6</Reference>
+              </ExternalReference>
+              <ExternalReference id="31631">
+                <Source>HGNC</Source>
+                <Reference>7605</Reference>
+              </ExternalReference>
+              <ExternalReference id="31630">
+                <Source>OMIM</Source>
+                <Reference>600970</Reference>
+              </ExternalReference>
+              <ExternalReference id="59576">
+                <Source>Reactome</Source>
+                <Reference>Q9UM54</Reference>
+              </ExternalReference>
+              <ExternalReference id="33574">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM54</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16510">
+            <Name lang="en">myosin VIIA</Name>
+            <Symbol>MYO7A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NSRD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137474</Reference>
+              </ExternalReference>
+              <ExternalReference id="31635">
+                <Source>Genatlas</Source>
+                <Reference>MYO7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="31637">
+                <Source>HGNC</Source>
+                <Reference>7606</Reference>
+              </ExternalReference>
+              <ExternalReference id="31636">
+                <Source>OMIM</Source>
+                <Reference>276903</Reference>
+              </ExternalReference>
+              <ExternalReference id="97237">
+                <Source>Reactome</Source>
+                <Reference>Q13402</Reference>
+              </ExternalReference>
+              <ExternalReference id="33575">
+                <Source>SwissProt</Source>
+                <Reference>Q13402</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11q13.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17301">
+            <Name lang="en">coiled-coil domain containing 50</Name>
+            <Symbol>CCDC50</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Ymer</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59567">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152492</Reference>
+              </ExternalReference>
+              <ExternalReference id="36727">
+                <Source>Genatlas</Source>
+                <Reference>CCDC50</Reference>
+              </ExternalReference>
+              <ExternalReference id="36728">
+                <Source>HGNC</Source>
+                <Reference>18111</Reference>
+              </ExternalReference>
+              <ExternalReference id="37580">
+                <Source>OMIM</Source>
+                <Reference>611051</Reference>
+              </ExternalReference>
+              <ExternalReference id="36729">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVM0</Reference>
+              </ExternalReference>
+              <ExternalReference id="143102">
+                <Source>Reactome</Source>
+                <Reference>Q8IVM0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>3q28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17346">
+            <Name lang="en">grainyhead like transcription factor 2</Name>
+            <Symbol>GRHL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BOM</Synonym>
+              <Synonym lang="en">FLJ13782</Synonym>
+              <Synonym lang="en">brother-of-MGR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142910">
+                <Source>Reactome</Source>
+                <Reference>Q6ISB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="36939">
+                <Source>HGNC</Source>
+                <Reference>2799</Reference>
+              </ExternalReference>
+              <ExternalReference id="36938">
+                <Source>OMIM</Source>
+                <Reference>608576</Reference>
+              </ExternalReference>
+              <ExternalReference id="36940">
+                <Source>SwissProt</Source>
+                <Reference>Q6ISB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="59572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083307</Reference>
+              </ExternalReference>
+              <ExternalReference id="36937">
+                <Source>Genatlas</Source>
+                <Reference>GRHL2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>8q22.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24148127[PMID]</SourceOfValidation>
+          <Gene id="17678">
+            <Name lang="en">crystallin mu</Name>
+            <Symbol>CRYM</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DFNA40</Synonym>
+              <Synonym lang="en">thiomorpholine-carboxylate dehydrogenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="38873">
+                <Source>HGNC</Source>
+                <Reference>2418</Reference>
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+              <ExternalReference id="38874">
+                <Source>OMIM</Source>
+                <Reference>123740</Reference>
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+              <ExternalReference id="97268">
+                <Source>Reactome</Source>
+                <Reference>Q14894</Reference>
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+              <ExternalReference id="38875">
+                <Source>SwissProt</Source>
+                <Reference>Q14894</Reference>
+              </ExternalReference>
+              <ExternalReference id="59568">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103316</Reference>
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+              <ExternalReference id="38872">
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+                <Reference>CRYM</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17680">
+            <Name lang="en">actin gamma 1</Name>
+            <Symbol>ACTG1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184009</Reference>
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+              <ExternalReference id="38882">
+                <Source>Genatlas</Source>
+                <Reference>ACTG1</Reference>
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+              <ExternalReference id="38883">
+                <Source>HGNC</Source>
+                <Reference>144</Reference>
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+                <Source>OMIM</Source>
+                <Reference>102560</Reference>
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+              <ExternalReference id="59566">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P63261</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]</SourceOfValidation>
+          <Gene id="17877">
+            <Name lang="en">solute carrier family 17 member 8</Name>
+            <Symbol>SLC17A8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">VGLUT3</Synonym>
+              <Synonym lang="en">vesicular glutamate transporter 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59583">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179520</Reference>
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+              <ExternalReference id="39932">
+                <Source>Genatlas</Source>
+                <Reference>SLC17A8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>20151</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607557</Reference>
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+              <ExternalReference id="59584">
+                <Source>Reactome</Source>
+                <Reference>Q8NDX2</Reference>
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+              <ExternalReference id="39935">
+                <Source>SwissProt</Source>
+                <Reference>Q8NDX2</Reference>
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+              <ExternalReference id="190352">
+                <Source>IUPHAR</Source>
+                <Reference>1009</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="18369">
+            <Name lang="en">microRNA 96</Name>
+            <Symbol>MIR96</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hsa-mir-96</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+              <ExternalReference id="59573">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000199158</Reference>
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+              <ExternalReference id="85369">
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+                <Reference>MIR96</Reference>
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+                <Source>HGNC</Source>
+                <Reference>31648</Reference>
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+              <ExternalReference id="41801">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24729547[PMID]_24729539[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
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+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+              <ExternalReference id="47768">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="19466">
+            <Name lang="en">tight junction protein 2</Name>
+            <Symbol>TJP2</Symbol>
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+              <Synonym lang="en">ZO-2</Synonym>
+              <Synonym lang="en">ZO2</Synonym>
+              <Synonym lang="en">zona occludens 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000119139</Reference>
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+              <ExternalReference id="48385">
+                <Source>HGNC</Source>
+                <Reference>11828</Reference>
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+              <ExternalReference id="48387">
+                <Source>OMIM</Source>
+                <Reference>607709</Reference>
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+              <ExternalReference id="59587">
+                <Source>Reactome</Source>
+                <Reference>Q9UDY2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21368133[PMID]</SourceOfValidation>
+          <Gene id="20142">
+            <Name lang="en">CEA cell adhesion molecule 16, tectorial membrane component</Name>
+            <Symbol>CEACAM16</Symbol>
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+              <Synonym lang="en">DFNA4B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20624953[PMID]</SourceOfValidation>
+          <Gene id="21194">
+            <Name lang="en">diaphanous related formin 3</Name>
+            <Symbol>DIAPH3</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">DRF3</Synonym>
+              <Synonym lang="en">FLJ34705</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>21722859[PMID]_24148127[PMID]</SourceOfValidation>
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+              <Synonym lang="en">FLJ10537</Synonym>
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+              <Synonym lang="en">second mitochondria-derived activator of caspase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>23345450[PMID]_20301607[PMID]</SourceOfValidation>
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+            <Name lang="en">purinergic receptor P2X 2</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187848</Reference>
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+                <Source>Genatlas</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000041982</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="180416">
+                <Source>HGNC</Source>
+                <Reference>9090</Reference>
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+              <ExternalReference id="180417">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120756</Reference>
+              </ExternalReference>
+              <ExternalReference id="180418">
+                <Source>SwissProt</Source>
+                <Reference>Q14651</Reference>
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+              <ExternalReference id="180419">
+                <Source>Reactome</Source>
+                <Reference>Q14651</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602734</Reference>
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+                <GeneLocus>3q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27657680[PMID]</SourceOfValidation>
+          <Gene id="23734">
+            <Name lang="en">Dmx like 2</Name>
+            <Symbol>DMXL2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DFNA71</Synonym>
+              <Synonym lang="en">KIAA0856</Synonym>
+              <Synonym lang="en">RC3</Synonym>
+              <Synonym lang="en">rabconnectin 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
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+                <Reference>2938</Reference>
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+              <ExternalReference id="101075">
+                <Source>OMIM</Source>
+                <Reference>612186</Reference>
+              </ExternalReference>
+              <ExternalReference id="101076">
+                <Source>Genatlas</Source>
+                <Reference>DMXL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="101077">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDJ6</Reference>
+              </ExternalReference>
+              <ExternalReference id="101078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104093</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17676">
+            <Name lang="en">myosin IA</Name>
+            <Symbol>MYO1A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166866</Reference>
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+              <ExternalReference id="38862">
+                <Source>Genatlas</Source>
+                <Reference>MYO1A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7595</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601478</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UBC5</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="12047">
+      <OrphaCode>90636</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90636</ExpertLink>
+      <Name lang="en">Autosomal recessive non-syndromic sensorineural deafness type DFNB</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="73">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29590114[PMID]</SourceOfValidation>
+          <Gene id="28241">
+            <Name lang="en">diphosphoinositol pentakisphosphate kinase 2</Name>
+            <Symbol>PPIP5K2</Symbol>
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+              <Synonym lang="en">CFAP160</Synonym>
+              <Synonym lang="en">KIAA0433</Synonym>
+              <Synonym lang="en">VIP2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="171242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145725</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43314</Reference>
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+              <ExternalReference id="171244">
+                <Source>Reactome</Source>
+                <Reference>O43314</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611648</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25331638[PMID]</SourceOfValidation>
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+            <Name lang="en">transmembrane protein 132E</Name>
+            <Symbol>TMEM132E</Symbol>
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+              <Synonym lang="en">DFNB99</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181291</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6IEE7</Reference>
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+                <Reference>616178</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>30610177[PMID]</SourceOfValidation>
+          <Gene id="28252">
+            <Name lang="en">GRB2 related adaptor protein</Name>
+            <Symbol>GRAP</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154016</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13588</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13588</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4562</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]</SourceOfValidation>
+          <Gene id="15381">
+            <Name lang="en">barttin CLCNK type accessory subunit beta</Name>
+            <Symbol>BSND</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BART</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59535">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162399</Reference>
+              </ExternalReference>
+              <ExternalReference id="26245">
+                <Source>Genatlas</Source>
+                <Reference>BSND</Reference>
+              </ExternalReference>
+              <ExternalReference id="26247">
+                <Source>HGNC</Source>
+                <Reference>16512</Reference>
+              </ExternalReference>
+              <ExternalReference id="26246">
+                <Source>OMIM</Source>
+                <Reference>606412</Reference>
+              </ExternalReference>
+              <ExternalReference id="82792">
+                <Source>Reactome</Source>
+                <Reference>Q8WZ55</Reference>
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+              <ExternalReference id="33938">
+                <Source>SwissProt</Source>
+                <Reference>Q8WZ55</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7309">
+                <GeneLocus>1p32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
+            <Symbol>CDH23</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR23</Synonym>
+              <Synonym lang="en">cadherin-related family member 23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
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+              <ExternalReference id="26431">
+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
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+              <ExternalReference id="26433">
+                <Source>HGNC</Source>
+                <Reference>13733</Reference>
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+              <ExternalReference id="26432">
+                <Source>OMIM</Source>
+                <Reference>605516</Reference>
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+              <ExternalReference id="32388">
+                <Source>SwissProt</Source>
+                <Reference>Q9H251</Reference>
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+            <LocusList count="1">
+              <Locus id="7377">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15598">
+            <Name lang="en">tectorin alpha</Name>
+            <Symbol>TECTA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59585">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109927</Reference>
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+              <ExternalReference id="27299">
+                <Source>Genatlas</Source>
+                <Reference>TECTA</Reference>
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+              <ExternalReference id="27297">
+                <Source>HGNC</Source>
+                <Reference>11720</Reference>
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+              <ExternalReference id="27296">
+                <Source>OMIM</Source>
+                <Reference>602574</Reference>
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+              <ExternalReference id="32569">
+                <Source>SwissProt</Source>
+                <Reference>O75443</Reference>
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+              <ExternalReference id="135048">
+                <Source>Reactome</Source>
+                <Reference>O75443</Reference>
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+              <Locus id="35927">
+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15626">
+            <Name lang="en">transmembrane channel like 1</Name>
+            <Symbol>TMC1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>16513</Reference>
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+              <ExternalReference id="27430">
+                <Source>OMIM</Source>
+                <Reference>606706</Reference>
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+              <ExternalReference id="32598">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDI8</Reference>
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+              <ExternalReference id="59588">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165091</Reference>
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+              <ExternalReference id="27429">
+                <Source>Genatlas</Source>
+                <Reference>TMC1</Reference>
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+                <GeneLocus>9q21.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15630">
+            <Name lang="en">transmembrane inner ear</Name>
+            <Symbol>TMIE</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59627">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181585</Reference>
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+              <ExternalReference id="27451">
+                <Source>Genatlas</Source>
+                <Reference>TMIE</Reference>
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+              <ExternalReference id="27449">
+                <Source>HGNC</Source>
+                <Reference>30800</Reference>
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+              <ExternalReference id="27448">
+                <Source>OMIM</Source>
+                <Reference>607237</Reference>
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+              <ExternalReference id="32602">
+                <Source>SwissProt</Source>
+                <Reference>Q8NEW7</Reference>
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+                <GeneLocus>3p21.31</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15631">
+            <Name lang="en">transmembrane serine protease 3</Name>
+            <Symbol>TMPRSS3</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160183</Reference>
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+              <ExternalReference id="27453">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="27455">
+                <Source>HGNC</Source>
+                <Reference>11877</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605511</Reference>
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+              <ExternalReference id="32603">
+                <Source>SwissProt</Source>
+                <Reference>P57727</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15700">
+            <Name lang="en">USH1 protein network component harmonin</Name>
+            <Symbol>USH1C</Symbol>
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+              <Synonym lang="en">AIE-75</Synonym>
+              <Synonym lang="en">NY-CO-37</Synonym>
+              <Synonym lang="en">NY-CO-38</Synonym>
+              <Synonym lang="en">PDZ-73</Synonym>
+              <Synonym lang="en">PDZ73</Synonym>
+              <Synonym lang="en">PDZD7C</Synonym>
+              <Synonym lang="en">harmonin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59629">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006611</Reference>
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+              <ExternalReference id="27778">
+                <Source>Genatlas</Source>
+                <Reference>USH1C</Reference>
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+              <ExternalReference id="27780">
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+                <Reference>12597</Reference>
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+              <ExternalReference id="27779">
+                <Source>OMIM</Source>
+                <Reference>605242</Reference>
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+              <ExternalReference id="32672">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6N9</Reference>
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+              <ExternalReference id="142817">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6N9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="15764">
+            <Name lang="en">collagen type XI alpha 2 chain</Name>
+            <Symbol>COL11A2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HKE5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58068">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204248</Reference>
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+              <ExternalReference id="28078">
+                <Source>Genatlas</Source>
+                <Reference>COL11A2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2187</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120290</Reference>
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+              <ExternalReference id="82863">
+                <Source>Reactome</Source>
+                <Reference>P13942</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24039609[PMID]</SourceOfValidation>
+          <Gene id="22370">
+            <Name lang="en">ELMO domain containing 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115459</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ELMOD3</Reference>
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+                <Reference>26158</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96FG2</Reference>
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+            <Name lang="en">gap junction protein beta 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57358">
+                <Source>Reactome</Source>
+                <Reference>P29033</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">gap junction protein beta 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188910</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25941349[PMID]</SourceOfValidation>
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+            <Name lang="en">MET proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>MET</Symbol>
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+              <Synonym lang="en">HGFR</Synonym>
+              <Synonym lang="en">RCCP2</Synonym>
+              <Synonym lang="en">hepatocyte growth factor receptor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
+                <Reference>1815</Reference>
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+              <ExternalReference id="31095">
+                <Source>OMIM</Source>
+                <Reference>164860</Reference>
+              </ExternalReference>
+              <ExternalReference id="57161">
+                <Source>Reactome</Source>
+                <Reference>P08581</Reference>
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+              <ExternalReference id="33456">
+                <Source>SwissProt</Source>
+                <Reference>P08581</Reference>
+              </ExternalReference>
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+                <GeneLocus>7q31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16507">
+            <Name lang="en">myosin XVA</Name>
+            <Symbol>MYO15A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59614">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091536</Reference>
+              </ExternalReference>
+              <ExternalReference id="31623">
+                <Source>Genatlas</Source>
+                <Reference>MYO15A</Reference>
+              </ExternalReference>
+              <ExternalReference id="31621">
+                <Source>HGNC</Source>
+                <Reference>7594</Reference>
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+              <ExternalReference id="31620">
+                <Source>OMIM</Source>
+                <Reference>602666</Reference>
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+              <ExternalReference id="33572">
+                <Source>SwissProt</Source>
+                <Reference>Q9UKN7</Reference>
+              </ExternalReference>
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+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16509">
+            <Name lang="en">myosin VI</Name>
+            <Symbol>MYO6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0389</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59575">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196586</Reference>
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+              <ExternalReference id="31633">
+                <Source>Genatlas</Source>
+                <Reference>MYO6</Reference>
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+              <ExternalReference id="31631">
+                <Source>HGNC</Source>
+                <Reference>7605</Reference>
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+              <ExternalReference id="31630">
+                <Source>OMIM</Source>
+                <Reference>600970</Reference>
+              </ExternalReference>
+              <ExternalReference id="59576">
+                <Source>Reactome</Source>
+                <Reference>Q9UM54</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UM54</Reference>
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+                <GeneLocus>6q14.1</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16510">
+            <Name lang="en">myosin VIIA</Name>
+            <Symbol>MYO7A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NSRD2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137474</Reference>
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+              <ExternalReference id="31635">
+                <Source>Genatlas</Source>
+                <Reference>MYO7A</Reference>
+              </ExternalReference>
+              <ExternalReference id="31637">
+                <Source>HGNC</Source>
+                <Reference>7606</Reference>
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+              <ExternalReference id="31636">
+                <Source>OMIM</Source>
+                <Reference>276903</Reference>
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+              <ExternalReference id="97237">
+                <Source>Reactome</Source>
+                <Reference>Q13402</Reference>
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+              <ExternalReference id="33575">
+                <Source>SwissProt</Source>
+                <Reference>Q13402</Reference>
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+                <GeneLocus>11q13.5</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16598">
+            <Name lang="en">otoferlin</Name>
+            <Symbol>OTOF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DFNB6</Synonym>
+              <Synonym lang="en">FER1L2</Synonym>
+              <Synonym lang="en">fer-1-like family member 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115155</Reference>
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+              <ExternalReference id="32056">
+                <Source>Genatlas</Source>
+                <Reference>OTOF</Reference>
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+              <ExternalReference id="32054">
+                <Source>HGNC</Source>
+                <Reference>8515</Reference>
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+              <ExternalReference id="32053">
+                <Source>OMIM</Source>
+                <Reference>603681</Reference>
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+              <ExternalReference id="33663">
+                <Source>SwissProt</Source>
+                <Reference>Q9HC10</Reference>
+              </ExternalReference>
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+                <GeneLocus>2p23.3</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16620">
+            <Name lang="en">protocadherin related 15</Name>
+            <Symbol>PCDH15</Symbol>
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+              <Synonym lang="en">CDHR15</Synonym>
+              <Synonym lang="en">cadherin-related family member 15</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150275</Reference>
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+              <ExternalReference id="32160">
+                <Source>Genatlas</Source>
+                <Reference>PCDH15</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14674</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605514</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96QU1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="16879">
+            <Name lang="en">whirlin</Name>
+            <Symbol>WHRN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CIP98</Synonym>
+              <Synonym lang="en">PDZD7B</Synonym>
+              <Synonym lang="en">USH2D</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095397</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>607928</Reference>
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+              <ExternalReference id="35354">
+                <Source>SwissProt</Source>
+                <Reference>Q9P202</Reference>
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+              <ExternalReference id="143506">
+                <Source>Reactome</Source>
+                <Reference>Q9P202</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17280">
+            <Name lang="en">stereocilin</Name>
+            <Symbol>STRC</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000242866</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
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+            <Name lang="en">TRIO and F-actin binding protein</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>17009</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H2D6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <Gene id="17298">
+            <Name lang="en">radixin</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17329">
+            <Name lang="en">LHFPL tetraspan subfamily member 5</Name>
+            <Symbol>LHFPL5</Symbol>
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+              <Synonym lang="en">MGC33835</Synonym>
+              <Synonym lang="en">Tmhs</Synonym>
+              <Synonym lang="en">dJ510O8.8</Synonym>
+              <Synonym lang="en">tetraspan membrane protein of hair cell stereocilia</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143283">
+                <Source>Reactome</Source>
+                <Reference>Q8TAF8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21253</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <Gene id="17463">
+            <Name lang="en">estrogen related receptor beta</Name>
+            <Symbol>ESRRB</Symbol>
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+              <Synonym lang="en">ERRbeta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
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+            <Name lang="en">MARVEL domain containing 2</Name>
+            <Symbol>MARVELD2</Symbol>
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+              <Synonym lang="en">TRIC</Synonym>
+              <Synonym lang="en">Tricellulin</Synonym>
+              <Synonym lang="en">tricellulin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="59611">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152939</Reference>
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+              <ExternalReference id="38226">
+                <Source>Genatlas</Source>
+                <Reference>MARVELD2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26401</Reference>
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+              <ExternalReference id="38228">
+                <Source>OMIM</Source>
+                <Reference>610572</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N4S9</Reference>
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+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17475">
+            <Name lang="en">myosin IIIA</Name>
+            <Symbol>MYO3A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095777</Reference>
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+              <ExternalReference id="38249">
+                <Source>Genatlas</Source>
+                <Reference>MYO3A</Reference>
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+              <ExternalReference id="38250">
+                <Source>HGNC</Source>
+                <Reference>7601</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2112</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606808</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NEV4</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17482">
+            <Name lang="en">solute carrier family 26 member 5</Name>
+            <Symbol>SLC26A5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DFNB61</Synonym>
+              <Synonym lang="en">deafness, neurosensory, autosomal recessive, 61</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>1104</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170615</Reference>
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+              <ExternalReference id="38285">
+                <Source>Genatlas</Source>
+                <Reference>SLC26A5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9359</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604943</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P58743</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17675">
+            <Name lang="en">otoancorin</Name>
+            <Symbol>OTOA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CT108</Synonym>
+              <Synonym lang="en">cancer/testis antigen 108</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q7RTW8</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155719</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>16378</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607038</Reference>
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+                <Reference>Q7RTW8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17677">
+            <Name lang="en">pejvakin</Name>
+            <Symbol>PJVK</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204311</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>29502</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q0ZLH3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17679">
+            <Name lang="en">claudin 14</Name>
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+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2035</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605608</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95500</Reference>
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+                <Reference>O95500</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="17844">
+            <Name lang="en">leucine rich transmembrane and O-methyltransferase domain containing</Name>
+            <Symbol>LRTOMT</Symbol>
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+              <Synonym lang="en">LRTOMT1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000184154</Reference>
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+                <Reference>Q8WZ04</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="18471">
+            <Name lang="en">hepatocyte growth factor</Name>
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+              <Synonym lang="en">HGFB</Synonym>
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+              <Synonym lang="en">fibroblast-derived tumor cytotoxic factor</Synonym>
+              <Synonym lang="en">hepatopoietin A</Synonym>
+              <Synonym lang="en">lung fibroblast-derived mitogen</Synonym>
+              <Synonym lang="en">scatter factor</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">lipoxygenase homology PLAT domains 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">glutaredoxin and cysteine rich domain containing 1</Name>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">taperin</Name>
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+            <SynonymList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">protein tyrosine phosphatase receptor type Q</Name>
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+            <Name lang="en">serpin family B member 6</Name>
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+              <Synonym lang="en">cytoplasmic antiproteinase</Synonym>
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+                <Source>Reactome</Source>
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+                <GeneLocus>6p25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24387994[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
+              </ExternalReference>
+              <ExternalReference id="47768">
+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
+              </ExternalReference>
+              <ExternalReference id="47769">
+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+              <ExternalReference id="47770">
+                <Source>OMIM</Source>
+                <Reference>613577</Reference>
+              </ExternalReference>
+              <ExternalReference id="47771">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULP9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35955">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="19338">
+            <Name lang="en">G protein signaling modulator 2</Name>
+            <Symbol>GPSM2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGN</Synonym>
+              <Synonym lang="en">Pins</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="143057">
+                <Source>Reactome</Source>
+                <Reference>P81274</Reference>
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+              <ExternalReference id="48110">
+                <Source>SwissProt</Source>
+                <Reference>P81274</Reference>
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+              <ExternalReference id="59603">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121957</Reference>
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+              <ExternalReference id="48107">
+                <Source>Genatlas</Source>
+                <Reference>GPSM2</Reference>
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+              <ExternalReference id="48108">
+                <Source>HGNC</Source>
+                <Reference>29501</Reference>
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+              <ExternalReference id="48109">
+                <Source>OMIM</Source>
+                <Reference>609245</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24148127[PMID]</SourceOfValidation>
+          <Gene id="19816">
+            <Name lang="en">methionine sulfoxide reductase B3</Name>
+            <Symbol>MSRB3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZp686C1178</Synonym>
+              <Synonym lang="en">FLJ36866</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59612">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174099</Reference>
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+              <ExternalReference id="50604">
+                <Source>Genatlas</Source>
+                <Reference>MSRB3</Reference>
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+              <ExternalReference id="50601">
+                <Source>HGNC</Source>
+                <Reference>27375</Reference>
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+              <ExternalReference id="50602">
+                <Source>OMIM</Source>
+                <Reference>613719</Reference>
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+              <ExternalReference id="98089">
+                <Source>Reactome</Source>
+                <Reference>Q8IXL7</Reference>
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+              <ExternalReference id="50603">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXL7</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>12q14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24148127[PMID]</SourceOfValidation>
+          <Gene id="19830">
+            <Name lang="en">immunoglobulin like domain containing receptor 1</Name>
+            <Symbol>ILDR1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC50831</Synonym>
+              <Synonym lang="en">angulin-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59630">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145103</Reference>
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+              <ExternalReference id="50688">
+                <Source>Genatlas</Source>
+                <Reference>ILDR1</Reference>
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+              <ExternalReference id="50687">
+                <Source>HGNC</Source>
+                <Reference>28741</Reference>
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+              <ExternalReference id="50690">
+                <Source>OMIM</Source>
+                <Reference>609739</Reference>
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+              <ExternalReference id="50689">
+                <Source>SwissProt</Source>
+                <Reference>Q86SU0</Reference>
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+            <LocusList count="1">
+              <Locus id="23693">
+                <GeneLocus>3q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23768514[PMID]</SourceOfValidation>
+          <Gene id="20149">
+            <Name lang="en">lysyl-tRNA synthetase 1</Name>
+            <Symbol>KARS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KARS1</Synonym>
+              <Synonym lang="en">KARS2</Synonym>
+              <Synonym lang="en">lysine tRNA ligase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60477">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065427</Reference>
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+              <ExternalReference id="51553">
+                <Source>Genatlas</Source>
+                <Reference>KARS</Reference>
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+              <ExternalReference id="51551">
+                <Source>HGNC</Source>
+                <Reference>6215</Reference>
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+              <ExternalReference id="51552">
+                <Source>OMIM</Source>
+                <Reference>601421</Reference>
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+              <ExternalReference id="60478">
+                <Source>Reactome</Source>
+                <Reference>Q15046</Reference>
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+              <ExternalReference id="51554">
+                <Source>SwissProt</Source>
+                <Reference>Q15046</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24148127[PMID]</SourceOfValidation>
+          <Gene id="20289">
+            <Name lang="en">GIPC PDZ domain containing family member 3</Name>
+            <Symbol>GIPC3</Symbol>
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+              <Synonym lang="en">DFNB95</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59604">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179855</Reference>
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+              <ExternalReference id="52266">
+                <Source>Genatlas</Source>
+                <Reference>GIPC3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18183</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608792</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TF64</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22678063[PMID]</SourceOfValidation>
+          <Gene id="21541">
+            <Name lang="en">thrombospondin type laminin G domain and EAR repeats</Name>
+            <Symbol>TSPEAR</Symbol>
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+              <Synonym lang="en">MGC11251</Synonym>
+              <Synonym lang="en">TSP-EAR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1268</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612920</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WU66</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23023331[PMID]_24148127[PMID]</SourceOfValidation>
+          <Gene id="21566">
+            <Name lang="en">calcium and integrin binding family member 2</Name>
+            <Symbol>CIB2</Symbol>
+            <SynonymList count="2">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136425</Reference>
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+              <ExternalReference id="74544">
+                <Source>Genatlas</Source>
+                <Reference>CIB2</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75838</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22981119[PMID]</SourceOfValidation>
+          <Gene id="21568">
+            <Name lang="en">calcium binding protein 2</Name>
+            <Symbol>CABP2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NPB3</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167791</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23122587[PMID]</SourceOfValidation>
+          <Gene id="21587">
+            <Name lang="en">otogelin</Name>
+            <Symbol>OTOG</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ46346</Synonym>
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+              <Synonym lang="en">mlemp</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23084290[PMID]</SourceOfValidation>
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+            <Name lang="en">polyribonucleotide nucleotidyltransferase 1</Name>
+            <Symbol>PNPT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">3'-5' RNA exonuclease</Synonym>
+              <Synonym lang="en">OLD35</Synonym>
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+              <Synonym lang="en">Polynucleotide phosphorylase</Synonym>
+              <Synonym lang="en">old-35</Synonym>
+              <Synonym lang="en">polynucleotide phosphorylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="21589">
+            <Name lang="en">otogelin like</Name>
+            <Symbol>OTOGL</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q3ZCN5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23348741[PMID]_20301607[PMID]</SourceOfValidation>
+          <Gene id="21894">
+            <Name lang="en">spectrin repeat containing nuclear envelope family member 4</Name>
+            <Symbol>SYNE4</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ36445</Synonym>
+              <Synonym lang="en">Nesp4</Synonym>
+              <Synonym lang="en">Nesprin-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000181392</Reference>
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+                <Reference>C19orf46</Reference>
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+                <Source>HGNC</Source>
+                <Reference>26703</Reference>
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+              <ExternalReference id="82375">
+                <Source>OMIM</Source>
+                <Reference>615535</Reference>
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+              <ExternalReference id="77799">
+                <Source>SwissProt</Source>
+                <Reference>Q8N205</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8N205</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23543054[PMID]</SourceOfValidation>
+          <Gene id="22154">
+            <Name lang="en">SLIT and NTRK like family member 6</Name>
+            <Symbol>SLITRK6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ22774</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q9H5Y7</Reference>
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+              <ExternalReference id="83840">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184564</Reference>
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+              <ExternalReference id="79608">
+                <Source>Genatlas</Source>
+                <Reference>SLITRK6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>23503</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609681</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H5Y7</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24619944[PMID]</SourceOfValidation>
+          <Gene id="22880">
+            <Name lang="en">glutaredoxin and cysteine rich domain containing 2</Name>
+            <Symbol>GRXCR2</Symbol>
+            <SynonymList count="1">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24741995[PMID]</SourceOfValidation>
+          <Gene id="22881">
+            <Name lang="en">epidermal growth factor receptor pathway substrate 8</Name>
+            <Symbol>EPS8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>3420</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600206</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12929</Reference>
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+              <ExternalReference id="91572">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151491</Reference>
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+                <Source>Genatlas</Source>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24482543[PMID]</SourceOfValidation>
+          <Gene id="22947">
+            <Name lang="en">adenylate cyclase 1</Name>
+            <Symbol>ADCY1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AC1</Synonym>
+              <Synonym lang="en">adenylyl cyclase subtype 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1278</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164742</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ADCY1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>103072</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q08828</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q08828</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24781754[PMID]</SourceOfValidation>
+          <Gene id="22964">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>CLIC5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13517</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607293</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZA1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24958875[PMID]</SourceOfValidation>
+          <Gene id="22993">
+            <Name lang="en">RHO family interacting cell polarization regulator 2</Name>
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+              <Synonym lang="en">DIFF48</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y4F9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111913</Reference>
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+                <Source>Genatlas</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>15829536[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="27595">
+      <OrphaCode>529574</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=529574</ExpertLink>
+      <Name lang="en">Duane retraction syndrome with congenital deafness</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27181683[PMID]</SourceOfValidation>
+          <Gene id="20884">
+            <Name lang="en">MAF bZIP transcription factor B</Name>
+            <Symbol>MAFB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83311">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204103</Reference>
+              </ExternalReference>
+              <ExternalReference id="61298">
+                <Source>Genatlas</Source>
+                <Reference>MAFB</Reference>
+              </ExternalReference>
+              <ExternalReference id="61296">
+                <Source>HGNC</Source>
+                <Reference>6408</Reference>
+              </ExternalReference>
+              <ExternalReference id="61297">
+                <Source>OMIM</Source>
+                <Reference>608968</Reference>
+              </ExternalReference>
+              <ExternalReference id="98097">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Q3</Reference>
+              </ExternalReference>
+              <ExternalReference id="61299">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Q3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17805">
+                <GeneLocus>20q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12032">
+      <OrphaCode>90368</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90368</ExpertLink>
+      <Name lang="en">Hypotrichosis simplex of the scalp</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21188418[PMID]</SourceOfValidation>
+          <Gene id="19138">
+            <Name lang="en">keratin 74</Name>
+            <Symbol>KRT74</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">K6IRS4</Synonym>
+              <Synonym lang="en">KRT5C</Synonym>
+              <Synonym lang="en">KRT6IRS4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58819">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170484</Reference>
+              </ExternalReference>
+              <ExternalReference id="45558">
+                <Source>Genatlas</Source>
+                <Reference>KRT74</Reference>
+              </ExternalReference>
+              <ExternalReference id="45559">
+                <Source>HGNC</Source>
+                <Reference>28929</Reference>
+              </ExternalReference>
+              <ExternalReference id="45560">
+                <Source>OMIM</Source>
+                <Reference>608248</Reference>
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+              <ExternalReference id="45561">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTS7</Reference>
+              </ExternalReference>
+              <ExternalReference id="126393">
+                <Source>Reactome</Source>
+                <Reference>Q7RTS7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26771">
+                <GeneLocus>12q13.13</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12754508[PMID]</SourceOfValidation>
+          <Gene id="15428">
+            <Name lang="en">corneodesmosin</Name>
+            <Symbol>CDSN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">D6S586E</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="82638">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204539</Reference>
+              </ExternalReference>
+              <ExternalReference id="26472">
+                <Source>Genatlas</Source>
+                <Reference>CDSN</Reference>
+              </ExternalReference>
+              <ExternalReference id="26470">
+                <Source>HGNC</Source>
+                <Reference>1802</Reference>
+              </ExternalReference>
+              <ExternalReference id="26469">
+                <Source>OMIM</Source>
+                <Reference>602593</Reference>
+              </ExternalReference>
+              <ExternalReference id="32397">
+                <Source>SwissProt</Source>
+                <Reference>Q15517</Reference>
+              </ExternalReference>
+              <ExternalReference id="126322">
+                <Source>Reactome</Source>
+                <Reference>Q15517</Reference>
+              </ExternalReference>
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+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12033">
+      <OrphaCode>90389</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90389</ExpertLink>
+      <Name lang="en">Telangiectasia macularis eruptiva perstans</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+              <ExternalReference id="30699">
+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12061">
+      <OrphaCode>90653</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90653</ExpertLink>
+      <Name lang="en">Stickler syndrome type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
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+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>12q13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12060">
+      <OrphaCode>90652</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90652</ExpertLink>
+      <Name lang="en">Otopalatodigital syndrome type 2</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301567[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12062">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90654</ExpertLink>
+      <Name lang="en">Stickler syndrome type 2</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">collagen type XI alpha 1 chain</Name>
+            <Symbol>COL11A1</Symbol>
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+              <Synonym lang="en">CO11A1</Synonym>
+              <Synonym lang="en">STL2</Synonym>
+              <Synonym lang="en">collagen XI, alpha-1 polypeptide</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000060718</Reference>
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+              <ExternalReference id="28070">
+                <Source>Genatlas</Source>
+                <Reference>COL11A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2186</Reference>
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+              <ExternalReference id="28071">
+                <Source>OMIM</Source>
+                <Reference>120280</Reference>
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+              <ExternalReference id="82862">
+                <Source>Reactome</Source>
+                <Reference>P12107</Reference>
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+              <ExternalReference id="32735">
+                <Source>SwissProt</Source>
+                <Reference>P12107</Reference>
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+                <GeneLocus>1p21.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>529665</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=529665</ExpertLink>
+      <Name lang="en">Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="27793">
+            <Name lang="en">glycosylphosphatidylinositol anchor attachment 1</Name>
+            <Symbol>GPAA1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GAA1</Synonym>
+              <Synonym lang="en">GPI transamidase subunit</Synonym>
+              <Synonym lang="en">hGAA1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197858</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43292</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43292</Reference>
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+                <Reference>603048</Reference>
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+      <Name lang="en">Jervell and Lange-Nielsen syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 1</Name>
+            <Symbol>KCNE1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ISK</Synonym>
+              <Synonym lang="en">IsK</Synonym>
+              <Synonym lang="en">JLNS2</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 2</Synonym>
+              <Synonym lang="en">LQT5</Synonym>
+              <Synonym lang="en">Long QT syndrome 5</Synonym>
+              <Synonym lang="en">minK</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98060">
+                <Source>Reactome</Source>
+                <Reference>P15382</Reference>
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+              <ExternalReference id="33351">
+                <Source>SwissProt</Source>
+                <Reference>P15382</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180509</Reference>
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+              <ExternalReference id="30596">
+                <Source>Genatlas</Source>
+                <Reference>KCNE1</Reference>
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+              <ExternalReference id="30594">
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+                <Reference>6240</Reference>
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+                <Reference>176261</Reference>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>20301579[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="16295">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 1</Name>
+            <Symbol>KCNQ1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">JLNS1</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 1</Synonym>
+              <Synonym lang="en">KCNA8</Synonym>
+              <Synonym lang="en">KVLQT1</Synonym>
+              <Synonym lang="en">Kv7.1</Synonym>
+              <Synonym lang="en">LQT1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58838">
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+                <Reference>ENSG00000053918</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>KCNQ1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>6294</Reference>
+              </ExternalReference>
+              <ExternalReference id="82970">
+                <Source>IUPHAR</Source>
+                <Reference>560</Reference>
+              </ExternalReference>
+              <ExternalReference id="30638">
+                <Source>OMIM</Source>
+                <Reference>607542</Reference>
+              </ExternalReference>
+              <ExternalReference id="58839">
+                <Source>Reactome</Source>
+                <Reference>P51787</Reference>
+              </ExternalReference>
+              <ExternalReference id="33360">
+                <Source>SwissProt</Source>
+                <Reference>P51787</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24017">
+                <GeneLocus>11p15.5-p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12059">
+      <OrphaCode>90650</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90650</ExpertLink>
+      <Name lang="en">Otopalatodigital syndrome type 1</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301567[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12050">
+      <OrphaCode>90641</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90641</ExpertLink>
+      <Name lang="en">Mitochondrial non-syndromic sensorineural deafness</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="8">
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+          <SourceOfValidation>19930154[PMID]</SourceOfValidation>
+          <Gene id="15126">
+            <Name lang="en">POU class 3 homeobox 4</Name>
+            <Symbol>POU3F4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRN4</Synonym>
+              <Synonym lang="en">DFNX2</Synonym>
+              <Synonym lang="en">OTF9</Synonym>
+              <Synonym lang="en">Octamer-binding transcription factor 9</Synonym>
+              <Synonym lang="en">brain-4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56900">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196767</Reference>
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+              <ExternalReference id="25037">
+                <Source>Genatlas</Source>
+                <Reference>POU3F4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9217</Reference>
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+              <ExternalReference id="25034">
+                <Source>OMIM</Source>
+                <Reference>300039</Reference>
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+              <ExternalReference id="33237">
+                <Source>SwissProt</Source>
+                <Reference>P49335</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17723226[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4</Name>
+            <Symbol>MT-ND4</Symbol>
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+              <Synonym lang="en">NAD4</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 4</Synonym>
+              <Synonym lang="en">ND4</Synonym>
+              <Synonym lang="en">complex I ND4 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198886</Reference>
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+              <ExternalReference id="37260">
+                <Source>Genatlas</Source>
+                <Reference>MT-ND4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7459</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P03905</Reference>
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+              <ExternalReference id="33546">
+                <Source>SwissProt</Source>
+                <Reference>P03905</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23510774[PMID]</SourceOfValidation>
+          <Gene id="15602">
+            <Name lang="en">transcription factor B1, mitochondrial</Name>
+            <Symbol>TFB1M</Symbol>
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+              <Synonym lang="en">dimethyladenosine transferase 1, mitochondrial</Synonym>
+              <Synonym lang="en">mtTFB</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59632">
+                <Source>Ensembl</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23510774[PMID]</SourceOfValidation>
+          <Gene id="15664">
+            <Name lang="en">tRNA mitochondrial 2-thiouridylase</Name>
+            <Symbol>TRMU</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">mitochondrial open-reading-frame of the twelve S rRNA type-c</Synonym>
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+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>Ensembl</Source>
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+          <SourceOfValidation>20301607[PMID]_24148127[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded tRNA-Ser (UCN) 1</Name>
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+      <Name lang="en">Familial thoracic aortic aneurysm and aortic dissection</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">SMAD family member 2</Name>
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+                <Reference>Q15796</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">lysyl oxidase</Name>
+            <Symbol>LOX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">protein-lysine 6-oxidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="126130">
+                <Source>OMIM</Source>
+                <Reference>153455</Reference>
+              </ExternalReference>
+              <ExternalReference id="126131">
+                <Source>Genatlas</Source>
+                <Reference>LOX</Reference>
+              </ExternalReference>
+              <ExternalReference id="126132">
+                <Source>SwissProt</Source>
+                <Reference>P28300</Reference>
+              </ExternalReference>
+              <ExternalReference id="126133">
+                <Source>Reactome</Source>
+                <Reference>P28300</Reference>
+              </ExternalReference>
+              <ExternalReference id="126134">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113083</Reference>
+              </ExternalReference>
+              <ExternalReference id="190582">
+                <Source>IUPHAR</Source>
+                <Reference>3097</Reference>
+              </ExternalReference>
+              <ExternalReference id="126129">
+                <Source>HGNC</Source>
+                <Reference>6664</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60573">
+                <GeneLocus>5q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25557781[PMID]</SourceOfValidation>
+          <Gene id="25436">
+            <Name lang="en">methionine adenosyltransferase 2A</Name>
+            <Symbol>MAT2A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MATA2</Synonym>
+              <Synonym lang="en">MATII</Synonym>
+              <Synonym lang="en">SAMS2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168906</Reference>
+              </ExternalReference>
+              <ExternalReference id="143778">
+                <Source>HGNC</Source>
+                <Reference>6904</Reference>
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+              <ExternalReference id="143779">
+                <Source>SwissProt</Source>
+                <Reference>P31153</Reference>
+              </ExternalReference>
+              <ExternalReference id="143780">
+                <Source>OMIM</Source>
+                <Reference>601468</Reference>
+              </ExternalReference>
+              <ExternalReference id="143781">
+                <Source>Reactome</Source>
+                <Reference>P31153</Reference>
+              </ExternalReference>
+              <ExternalReference id="143782">
+                <Source>Genatlas</Source>
+                <Reference>MAT2A</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39031">
+                <GeneLocus>2p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24932728[PMID]</SourceOfValidation>
+          <Gene id="15971">
+            <Name lang="en">elastin</Name>
+            <Symbol>ELN</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">SVAS</Synonym>
+              <Synonym lang="en">WBS</Synonym>
+              <Synonym lang="en">WS</Synonym>
+              <Synonym lang="en">Williams-Beuren syndrome</Synonym>
+              <Synonym lang="en">supravalvular aortic stenosis</Synonym>
+              <Synonym lang="en">tropoelastin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049540</Reference>
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+              <ExternalReference id="29056">
+                <Source>Genatlas</Source>
+                <Reference>ELN</Reference>
+              </ExternalReference>
+              <ExternalReference id="29054">
+                <Source>HGNC</Source>
+                <Reference>3327</Reference>
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+              <ExternalReference id="29053">
+                <Source>OMIM</Source>
+                <Reference>130160</Reference>
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+              <ExternalReference id="82898">
+                <Source>Reactome</Source>
+                <Reference>P15502</Reference>
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+              <ExternalReference id="32983">
+                <Source>SwissProt</Source>
+                <Reference>P15502</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32820247[PMID]</SourceOfValidation>
+          <Gene id="24594">
+            <Name lang="en">hes related family bHLH transcription factor with YRPW motif 2</Name>
+            <Symbol>HEY2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HERP1</Synonym>
+              <Synonym lang="en">HESR2</Synonym>
+              <Synonym lang="en">bHLHb32</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="131411">
+                <Source>HGNC</Source>
+                <Reference>4881</Reference>
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+              <ExternalReference id="134334">
+                <Source>Reactome</Source>
+                <Reference>Q9UBP5</Reference>
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+              <ExternalReference id="133878">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135547</Reference>
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+              <ExternalReference id="144161">
+                <Source>Genatlas</Source>
+                <Reference>HEY2</Reference>
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+              <ExternalReference id="132869">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBP5</Reference>
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+              <ExternalReference id="132146">
+                <Source>OMIM</Source>
+                <Reference>604674</Reference>
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+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23824657[PMID]_25835445[PMID]</SourceOfValidation>
+          <Gene id="15608">
+            <Name lang="en">transforming growth factor beta 3</Name>
+            <Symbol>TGFB3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prepro-transforming growth factor beta-3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="32579">
+                <Source>SwissProt</Source>
+                <Reference>P10600</Reference>
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+              <ExternalReference id="60347">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119699</Reference>
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+              <ExternalReference id="27345">
+                <Source>Genatlas</Source>
+                <Reference>TGFB3</Reference>
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+              <ExternalReference id="27343">
+                <Source>HGNC</Source>
+                <Reference>11769</Reference>
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+              <ExternalReference id="27342">
+                <Source>OMIM</Source>
+                <Reference>190230</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P10600</Reference>
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+              <Locus id="69365">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301299[PMID]</SourceOfValidation>
+          <Gene id="15610">
+            <Name lang="en">transforming growth factor beta receptor 1</Name>
+            <Symbol>TGFBR1</Symbol>
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+              <Synonym lang="en">ACVRLK4</Synonym>
+              <Synonym lang="en">ALK-5</Synonym>
+              <Synonym lang="en">ALK5</Synonym>
+              <Synonym lang="en">TBR-i</Synonym>
+              <Synonym lang="en">TBRI</Synonym>
+              <Synonym lang="en">activin A receptor type II-like kinase, 53kDa</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59157">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106799</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TGFBR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11772</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1788</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59158">
+                <Source>Reactome</Source>
+                <Reference>P36897</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P36897</Reference>
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+                <GeneLocus>9q22.33</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301299[PMID]</SourceOfValidation>
+          <Gene id="15611">
+            <Name lang="en">transforming growth factor beta receptor 2</Name>
+            <Symbol>TGFBR2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163513</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>11773</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1795</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301299[PMID]</SourceOfValidation>
+          <Gene id="16032">
+            <Name lang="en">fibrillin 1</Name>
+            <Symbol>FBN1</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">Marfan syndrome</Synonym>
+              <Synonym lang="en">OCTD</Synonym>
+              <Synonym lang="en">SGS</Synonym>
+              <Synonym lang="en">asprosin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166147</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="57334">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301299[PMID]</SourceOfValidation>
+          <Gene id="16835">
+            <Name lang="en">actin alpha 2, smooth muscle</Name>
+            <Symbol>ACTA2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">myosin light chain kinase</Name>
+            <Symbol>MYLK</Symbol>
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+              <Synonym lang="en">MLCK1</Synonym>
+              <Synonym lang="en">MYLK1</Synonym>
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+              <Synonym lang="en">smooth muscle myosin light chain kinase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000065534</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">SMAD family member 3</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Reference>ENSG00000185532</Reference>
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+                <Reference>1492</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25434006[PMID]</SourceOfValidation>
+          <Gene id="23107">
+            <Name lang="en">microfibril associated protein 5</Name>
+            <Symbol>MFAP5</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAGP2</Synonym>
+              <Synonym lang="en">MP25</Synonym>
+              <Synonym lang="en">microfibril-associated glycoprotein-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197614</Reference>
+              </ExternalReference>
+              <ExternalReference id="95124">
+                <Source>Genatlas</Source>
+                <Reference>MFAP5</Reference>
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+              <ExternalReference id="95122">
+                <Source>HGNC</Source>
+                <Reference>29673</Reference>
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+              <ExternalReference id="95123">
+                <Source>OMIM</Source>
+                <Reference>601103</Reference>
+              </ExternalReference>
+              <ExternalReference id="97009">
+                <Source>Reactome</Source>
+                <Reference>Q13361</Reference>
+              </ExternalReference>
+              <ExternalReference id="95125">
+                <Source>SwissProt</Source>
+                <Reference>Q13361</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>12p13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22772371[PMID]</SourceOfValidation>
+          <Gene id="15607">
+            <Name lang="en">transforming growth factor beta 2</Name>
+            <Symbol>TGFB2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">prepro-transforming growth factor beta-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58302">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092969</Reference>
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+              <ExternalReference id="37377">
+                <Source>Genatlas</Source>
+                <Reference>TGFB2</Reference>
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+              <ExternalReference id="27339">
+                <Source>HGNC</Source>
+                <Reference>11768</Reference>
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+              <ExternalReference id="27338">
+                <Source>OMIM</Source>
+                <Reference>190220</Reference>
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+              <ExternalReference id="58303">
+                <Source>Reactome</Source>
+                <Reference>P61812</Reference>
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+              <ExternalReference id="32578">
+                <Source>SwissProt</Source>
+                <Reference>P61812</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30809044[PMID]</SourceOfValidation>
+          <Gene id="15524">
+            <Name lang="en">SMAD family member 4</Name>
+            <Symbol>SMAD4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DPC4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57042">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141646</Reference>
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+              <ExternalReference id="26942">
+                <Source>Genatlas</Source>
+                <Reference>SMAD4</Reference>
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+              <ExternalReference id="26944">
+                <Source>HGNC</Source>
+                <Reference>6770</Reference>
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+              <ExternalReference id="26943">
+                <Source>OMIM</Source>
+                <Reference>600993</Reference>
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+              <ExternalReference id="57043">
+                <Source>Reactome</Source>
+                <Reference>Q13485</Reference>
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+              <ExternalReference id="32495">
+                <Source>SwissProt</Source>
+                <Reference>Q13485</Reference>
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+                <GeneLocus>18q21.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301299[PMID]</SourceOfValidation>
+          <Gene id="16496">
+            <Name lang="en">myosin heavy chain 11</Name>
+            <Symbol>MYH11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SMHC</Synonym>
+              <Synonym lang="en">SMMHC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58473">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133392</Reference>
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+              <ExternalReference id="37269">
+                <Source>Genatlas</Source>
+                <Reference>MYH11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7569</Reference>
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+              <ExternalReference id="31567">
+                <Source>OMIM</Source>
+                <Reference>160745</Reference>
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+              <ExternalReference id="58474">
+                <Source>Reactome</Source>
+                <Reference>P35749</Reference>
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+              <ExternalReference id="33561">
+                <Source>SwissProt</Source>
+                <Reference>P35749</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Congenital ptosis</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>26486031[PMID]_25500261[PMID]</SourceOfValidation>
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+            <Name lang="en">collagen type XXV alpha 1 chain</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="95281">
+                <Source>HGNC</Source>
+                <Reference>18603</Reference>
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+              <ExternalReference id="95282">
+                <Source>OMIM</Source>
+                <Reference>610004</Reference>
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+              <ExternalReference id="97003">
+                <Source>Reactome</Source>
+                <Reference>Q9BXS0</Reference>
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+              <ExternalReference id="95284">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXS0</Reference>
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+              <ExternalReference id="95285">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188517</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11935336[PMID]_17987257[PMID]</SourceOfValidation>
+          <Gene id="25047">
+            <Name lang="en">zinc finger homeobox 4</Name>
+            <Symbol>ZFHX4</Symbol>
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+              <Synonym lang="en">FLJ20980</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="133433">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091656</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UP3</Reference>
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+                <Reference>ZFHX4</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Snowflake vitreoretinal degeneration</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 13</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58399">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115474</Reference>
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+              <ExternalReference id="37189">
+                <Source>Genatlas</Source>
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+                <Reference>6259</Reference>
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+                <Reference>443</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60928</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">frizzled class receptor 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164093</Reference>
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+                <Reference>9005</Reference>
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+                <Source>Reactome</Source>
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+      <OrphaCode>91414</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91414</ExpertLink>
+      <Name lang="en">Pilomatrixoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10192393[PMID]</SourceOfValidation>
+          <Gene id="15819">
+            <Name lang="en">catenin beta 1</Name>
+            <Symbol>CTNNB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">armadillo</Synonym>
+              <Synonym lang="en">beta-catenin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58852">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168036</Reference>
+              </ExternalReference>
+              <ExternalReference id="37415">
+                <Source>Genatlas</Source>
+                <Reference>CTNNB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28340">
+                <Source>HGNC</Source>
+                <Reference>2514</Reference>
+              </ExternalReference>
+              <ExternalReference id="28339">
+                <Source>OMIM</Source>
+                <Reference>116806</Reference>
+              </ExternalReference>
+              <ExternalReference id="58853">
+                <Source>Reactome</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+              <ExternalReference id="32830">
+                <Source>SwissProt</Source>
+                <Reference>P35222</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24375">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12150">
+      <OrphaCode>91490</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91490</ExpertLink>
+      <Name lang="en">Isolated congenital sclerocornea</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28455998[PMID]</SourceOfValidation>
+          <Gene id="16128">
+            <Name lang="en">gap junction protein alpha 8</Name>
+            <Symbol>GJA8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CX50</Synonym>
+              <Synonym lang="en">connexin 50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58058">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121634</Reference>
+              </ExternalReference>
+              <ExternalReference id="29841">
+                <Source>Genatlas</Source>
+                <Reference>GJA8</Reference>
+              </ExternalReference>
+              <ExternalReference id="29843">
+                <Source>HGNC</Source>
+                <Reference>4281</Reference>
+              </ExternalReference>
+              <ExternalReference id="29842">
+                <Source>OMIM</Source>
+                <Reference>600897</Reference>
+              </ExternalReference>
+              <ExternalReference id="58059">
+                <Source>Reactome</Source>
+                <Reference>P48165</Reference>
+              </ExternalReference>
+              <ExternalReference id="33143">
+                <Source>SwissProt</Source>
+                <Reference>P48165</Reference>
+              </ExternalReference>
+              <ExternalReference id="193590">
+                <Source>IUPHAR</Source>
+                <Reference>732</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66589">
+                <GeneLocus>1q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12149">
+      <OrphaCode>91489</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91489</ExpertLink>
+      <Name lang="en">Isolated congenital megalocornea</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22284829[PMID]</SourceOfValidation>
+          <Gene id="20813">
+            <Name lang="en">chordin like 1</Name>
+            <Symbol>CHRDL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CHL</Synonym>
+              <Synonym lang="en">NRLN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="61031">
+                <Source>HGNC</Source>
+                <Reference>29861</Reference>
+              </ExternalReference>
+              <ExternalReference id="61032">
+                <Source>OMIM</Source>
+                <Reference>300350</Reference>
+              </ExternalReference>
+              <ExternalReference id="83262">
+                <Source>Reactome</Source>
+                <Reference>Q9BU40</Reference>
+              </ExternalReference>
+              <ExternalReference id="61034">
+                <Source>SwissProt</Source>
+                <Reference>Q9BU40</Reference>
+              </ExternalReference>
+              <ExternalReference id="83263">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101938</Reference>
+              </ExternalReference>
+              <ExternalReference id="61033">
+                <Source>Genatlas</Source>
+                <Reference>CHRDL1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11831">
+                <GeneLocus>Xq23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12148">
+      <OrphaCode>91483</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91483</ExpertLink>
+      <Name lang="en">Rieger anomaly</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19513095[PMID]_24433355[PMID]</SourceOfValidation>
+          <Gene id="15096">
+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ARP1</Synonym>
+              <Synonym lang="en">Brx1</Synonym>
+              <Synonym lang="en">IGDS</Synonym>
+              <Synonym lang="en">Otlx2</Synonym>
+              <Synonym lang="en">RS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58301">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164093</Reference>
+              </ExternalReference>
+              <ExternalReference id="24889">
+                <Source>Genatlas</Source>
+                <Reference>PITX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24887">
+                <Source>HGNC</Source>
+                <Reference>9005</Reference>
+              </ExternalReference>
+              <ExternalReference id="24886">
+                <Source>OMIM</Source>
+                <Reference>601542</Reference>
+              </ExternalReference>
+              <ExternalReference id="32787">
+                <Source>SwissProt</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+              <ExternalReference id="126310">
+                <Source>Reactome</Source>
+                <Reference>Q99697</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26605">
+                <GeneLocus>4q25</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9620769[PMID]_11170889[PMID]</SourceOfValidation>
+          <Gene id="16064">
+            <Name lang="en">forkhead box C1</Name>
+            <Symbol>FOXC1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ARA</Synonym>
+              <Synonym lang="en">FREAC3</Synonym>
+              <Synonym lang="en">IGDA</Synonym>
+              <Synonym lang="en">IHG1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="29534">
+                <Source>OMIM</Source>
+                <Reference>601090</Reference>
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+              <ExternalReference id="33079">
+                <Source>SwissProt</Source>
+                <Reference>Q12948</Reference>
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+              <ExternalReference id="58298">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054598</Reference>
+              </ExternalReference>
+              <ExternalReference id="29533">
+                <Source>Genatlas</Source>
+                <Reference>FOXC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29535">
+                <Source>HGNC</Source>
+                <Reference>3800</Reference>
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+              <ExternalReference id="143482">
+                <Source>Reactome</Source>
+                <Reference>Q12948</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="38669">
+                <GeneLocus>6p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12107">
+      <OrphaCode>91130</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91130</ExpertLink>
+      <Name lang="en">Cardiomyopathy-hypotonia-lactic acidosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17273968[PMID]</SourceOfValidation>
+          <Gene id="17204">
+            <Name lang="en">solute carrier family 25 member 3</Name>
+            <Symbol>SLC25A3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143850">
+                <Source>Reactome</Source>
+                <Reference>Q00325</Reference>
+              </ExternalReference>
+              <ExternalReference id="190431">
+                <Source>IUPHAR</Source>
+                <Reference>1061</Reference>
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+              <ExternalReference id="59643">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075415</Reference>
+              </ExternalReference>
+              <ExternalReference id="36298">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A3</Reference>
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+              <ExternalReference id="36300">
+                <Source>HGNC</Source>
+                <Reference>10989</Reference>
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+              <ExternalReference id="36299">
+                <Source>OMIM</Source>
+                <Reference>600370</Reference>
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+              <ExternalReference id="36301">
+                <Source>SwissProt</Source>
+                <Reference>Q00325</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12108">
+      <OrphaCode>91131</OrphaCode>
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+      <Name lang="en">DK1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="16439">
+            <Name lang="en">dolichol kinase</Name>
+            <Symbol>DOLK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DK1</Synonym>
+              <Synonym lang="en">KIAA1094</Synonym>
+              <Synonym lang="en">dolichol kinase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59644">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175283</Reference>
+              </ExternalReference>
+              <ExternalReference id="38372">
+                <Source>Genatlas</Source>
+                <Reference>DOLK</Reference>
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+              <ExternalReference id="31296">
+                <Source>HGNC</Source>
+                <Reference>23406</Reference>
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+              <ExternalReference id="31295">
+                <Source>OMIM</Source>
+                <Reference>610746</Reference>
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+              <ExternalReference id="59645">
+                <Source>Reactome</Source>
+                <Reference>Q9UPQ8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPQ8</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>9q34.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12109">
+      <OrphaCode>91132</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=91132</ExpertLink>
+      <Name lang="en">Ichthyosis-hypotrichosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17273967[PMID]</SourceOfValidation>
+          <Gene id="18078">
+            <Name lang="en">ST14 transmembrane serine protease matriptase</Name>
+            <Symbol>ST14</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CAP3</Synonym>
+              <Synonym lang="en">HAI</Synonym>
+              <Synonym lang="en">MT-SP1</Synonym>
+              <Synonym lang="en">SNC19</Synonym>
+              <Synonym lang="en">TMPRSS14</Synonym>
+              <Synonym lang="en">channel–activating protein 3</Synonym>
+              <Synonym lang="en">epithin</Synonym>
+              <Synonym lang="en">matriptase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126379">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Y6</Reference>
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+              <ExternalReference id="59646">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149418</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ST14</Reference>
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+                <Reference>11344</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2418</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606797</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Y6</Reference>
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+                <GeneLocus>11q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="12096">
+      <OrphaCode>90793</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90793</ExpertLink>
+      <Name lang="en">Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15836">
+            <Name lang="en">cytochrome P450 family 17 subfamily A member 1</Name>
+            <Symbol>CYP17A1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CPT7</Synonym>
+              <Synonym lang="en">P450C17</Synonym>
+              <Synonym lang="en">S17AH</Synonym>
+              <Synonym lang="en">Steroid 17-alpha-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148795</Reference>
+              </ExternalReference>
+              <ExternalReference id="28422">
+                <Source>Genatlas</Source>
+                <Reference>CYP17A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28420">
+                <Source>HGNC</Source>
+                <Reference>2593</Reference>
+              </ExternalReference>
+              <ExternalReference id="82877">
+                <Source>IUPHAR</Source>
+                <Reference>1361</Reference>
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+              <ExternalReference id="28419">
+                <Source>OMIM</Source>
+                <Reference>609300</Reference>
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+              <ExternalReference id="59640">
+                <Source>Reactome</Source>
+                <Reference>P05093</Reference>
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+              <ExternalReference id="32847">
+                <Source>SwissProt</Source>
+                <Reference>P05093</Reference>
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+                <GeneLocus>10q24.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12098">
+      <OrphaCode>90795</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90795</ExpertLink>
+      <Name lang="en">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="15834">
+            <Name lang="en">cytochrome P450 family 11 subfamily B member 1</Name>
+            <Symbol>CYP11B1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CPN1</Synonym>
+              <Synonym lang="en">FHI</Synonym>
+              <Synonym lang="en">P450C11</Synonym>
+              <Synonym lang="en">steroid 11-beta-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="82876">
+                <Source>IUPHAR</Source>
+                <Reference>1359</Reference>
+              </ExternalReference>
+              <ExternalReference id="28409">
+                <Source>OMIM</Source>
+                <Reference>610613</Reference>
+              </ExternalReference>
+              <ExternalReference id="57813">
+                <Source>Reactome</Source>
+                <Reference>P15538</Reference>
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+              <ExternalReference id="32845">
+                <Source>SwissProt</Source>
+                <Reference>P15538</Reference>
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+              <ExternalReference id="57812">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160882</Reference>
+              </ExternalReference>
+              <ExternalReference id="28412">
+                <Source>Genatlas</Source>
+                <Reference>CYP11B1</Reference>
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+              <ExternalReference id="28410">
+                <Source>HGNC</Source>
+                <Reference>2591</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21879">
+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12099">
+      <OrphaCode>90796</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90796</ExpertLink>
+      <Name lang="en">46,XY disorder of sex development due to isolated 17,20-lyase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20080843[PMID]</SourceOfValidation>
+          <Gene id="15829">
+            <Name lang="en">cytochrome b5 type A</Name>
+            <Symbol>CYB5A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166347</Reference>
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+              <ExternalReference id="35747">
+                <Source>Genatlas</Source>
+                <Reference>CYB5A</Reference>
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+              <ExternalReference id="28386">
+                <Source>HGNC</Source>
+                <Reference>2570</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613218</Reference>
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+              <ExternalReference id="58521">
+                <Source>Reactome</Source>
+                <Reference>P00167</Reference>
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+              <ExternalReference id="32840">
+                <Source>SwissProt</Source>
+                <Reference>P00167</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>18q22.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12466376[PMID]</SourceOfValidation>
+          <Gene id="15836">
+            <Name lang="en">cytochrome P450 family 17 subfamily A member 1</Name>
+            <Symbol>CYP17A1</Symbol>
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+              <Synonym lang="en">CPT7</Synonym>
+              <Synonym lang="en">P450C17</Synonym>
+              <Synonym lang="en">S17AH</Synonym>
+              <Synonym lang="en">Steroid 17-alpha-monooxygenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59639">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148795</Reference>
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+              <ExternalReference id="28422">
+                <Source>Genatlas</Source>
+                <Reference>CYP17A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2593</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1361</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609300</Reference>
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+              <ExternalReference id="59640">
+                <Source>Reactome</Source>
+                <Reference>P05093</Reference>
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+              <ExternalReference id="32847">
+                <Source>SwissProt</Source>
+                <Reference>P05093</Reference>
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+            <LocusList count="1">
+              <Locus id="26093">
+                <GeneLocus>10q24.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12100">
+      <OrphaCode>90797</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=90797</ExpertLink>
+      <Name lang="en">Partial androgen insensitivity syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301602[PMID]</SourceOfValidation>
+          <Gene id="16667">
+            <Name lang="en">androgen receptor</Name>
+            <Symbol>AR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AIS</Synonym>
+              <Synonym lang="en">HUMARA</Synonym>
+              <Synonym lang="en">Kennedy disease</Synonym>
+              <Synonym lang="en">NR3C4</Synonym>
+              <Synonym lang="en">SMAX1</Synonym>
+              <Synonym lang="en">testicular feminization</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56923">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169083</Reference>
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+              <ExternalReference id="37195">
+                <Source>Genatlas</Source>
+                <Reference>AR</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>628</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">TSH-secreting pituitary adenoma</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
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+            <SynonymList count="2">
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+              <Synonym lang="en">cadherin-related family member 23</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
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+                <Reference>13733</Reference>
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+                <Reference>Q9H251</Reference>
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+      <Name lang="en">Germinoma of the central nervous system</Name>
+      <DisorderType id="21450">
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+            <Name lang="en">jumonji domain containing 1C</Name>
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+              <Synonym lang="en">KDM3C</Synonym>
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+                <Reference>ENSG00000171988</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Reference>Q15652</Reference>
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+      <Name lang="en">Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</Name>
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+              <Synonym lang="en">peptidyl-glutamate 4-carboxylase</Synonym>
+              <Synonym lang="en">vitamin K-dependent gamma-carboxylase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+      <Name lang="en">Epidermolysis bullosa simplex with mottled pigmentation</Name>
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+                <Reference>6416</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P02533</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301543[PMID]</SourceOfValidation>
+          <Gene id="16322">
+            <Name lang="en">keratin 5</Name>
+            <Symbol>KRT5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KRT5A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59300">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186081</Reference>
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+              <ExternalReference id="30763">
+                <Source>Genatlas</Source>
+                <Reference>KRT5</Reference>
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+              <ExternalReference id="30765">
+                <Source>HGNC</Source>
+                <Reference>6442</Reference>
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+              <ExternalReference id="30764">
+                <Source>OMIM</Source>
+                <Reference>148040</Reference>
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+              <ExternalReference id="59301">
+                <Source>Reactome</Source>
+                <Reference>P13647</Reference>
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+              <ExternalReference id="33387">
+                <Source>SwissProt</Source>
+                <Reference>P13647</Reference>
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+            <LocusList count="1">
+              <Locus id="9061">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11420">
+      <OrphaCode>79394</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79394</ExpertLink>
+      <Name lang="en">Congenital non-bullous ichthyosiform erythroderma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18284401[PMID]_19262603[PMID]_22257947[PMID]</SourceOfValidation>
+          <Gene id="15049">
+            <Name lang="en">ATP binding cassette subfamily A member 12</Name>
+            <Symbol>ABCA12</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP434G232</Synonym>
+              <Synonym lang="en">LI2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+              <ExternalReference id="82725">
+                <Source>IUPHAR</Source>
+                <Reference>766</Reference>
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+              <ExternalReference id="24655">
+                <Source>OMIM</Source>
+                <Reference>607800</Reference>
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+              <ExternalReference id="57075">
+                <Source>Reactome</Source>
+                <Reference>Q86UK0</Reference>
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+              <ExternalReference id="32326">
+                <Source>SwissProt</Source>
+                <Reference>Q86UK0</Reference>
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+              <ExternalReference id="57074">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144452</Reference>
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+                <Source>Genatlas</Source>
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+            <LocusList count="1">
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+          <SourceOfValidation>16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID]</SourceOfValidation>
+          <Gene id="15502">
+            <Name lang="en">arachidonate 12-lipoxygenase, 12R type</Name>
+            <Symbol>ALOX12B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">12R-LOX</Synonym>
+              <Synonym lang="en">12R-lipoxygenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179477</Reference>
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+              <ExternalReference id="26837">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>430</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O75342</Reference>
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+              <ExternalReference id="193659">
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12780701[PMID]</SourceOfValidation>
+          <Gene id="15503">
+            <Name lang="en">arachidonate lipoxygenase 3</Name>
+            <Symbol>ALOXE3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">E-LOX</Synonym>
+              <Synonym lang="en">Epidermal lipoxygenase-3</Synonym>
+              <Synonym lang="en">eLOX3</Synonym>
+              <Synonym lang="en">hydroperoxide isomerase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179148</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>607206</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BYJ1</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12780701[PMID]</SourceOfValidation>
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+            <Name lang="en">transglutaminase 1</Name>
+            <Symbol>TGM1</Symbol>
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+              <Synonym lang="en">K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase</Synonym>
+              <Synonym lang="en">LI</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092295</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ceramide synthase 3</Name>
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+      <Name lang="en">Keratoderma hereditarium mutilans with ichthyosis</Name>
+      <DisorderType id="21394">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000203782</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000186847</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301543[PMID]</SourceOfValidation>
+          <Gene id="16322">
+            <Name lang="en">keratin 5</Name>
+            <Symbol>KRT5</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KRT5A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186081</Reference>
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+              <ExternalReference id="30763">
+                <Source>Genatlas</Source>
+                <Reference>KRT5</Reference>
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+              <ExternalReference id="30765">
+                <Source>HGNC</Source>
+                <Reference>6442</Reference>
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+              <ExternalReference id="30764">
+                <Source>OMIM</Source>
+                <Reference>148040</Reference>
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+              <ExternalReference id="59301">
+                <Source>Reactome</Source>
+                <Reference>P13647</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P13647</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>11851880[PMID]</SourceOfValidation>
+          <Gene id="15106">
+            <Name lang="en">plectin</Name>
+            <Symbol>PLEC</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PCN</Synonym>
+              <Synonym lang="en">PLTN</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000178209</Reference>
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+              <ExternalReference id="46835">
+                <Source>Genatlas</Source>
+                <Reference>PLEC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9069</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601282</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q15149</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Localized epidermolysis bullosa simplex</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301543[PMID]</SourceOfValidation>
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+            <Name lang="en">keratin 14</Name>
+            <Symbol>KRT14</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">epidermolysis bullosa simplex, Dowling-Meara, Koebner</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>6416</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186847</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">keratin 5</Name>
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+              <Synonym lang="en">KRT5A</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186081</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Junctional epidermolysis bullosa with pyloric atresia</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11430">
+      <OrphaCode>79404</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79404</ExpertLink>
+      <Name lang="en">Severe generalized junctional epidermolysis bullosa</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301304[PMID]</SourceOfValidation>
+          <Gene id="16335">
+            <Name lang="en">laminin subunit beta 3</Name>
+            <Symbol>LAMB3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BM600-125kDa</Synonym>
+              <Synonym lang="en">kalinin-140kDa</Synonym>
+              <Synonym lang="en">nicein-125kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196878</Reference>
+              </ExternalReference>
+              <ExternalReference id="30828">
+                <Source>Genatlas</Source>
+                <Reference>LAMB3</Reference>
+              </ExternalReference>
+              <ExternalReference id="30826">
+                <Source>HGNC</Source>
+                <Reference>6490</Reference>
+              </ExternalReference>
+              <ExternalReference id="30825">
+                <Source>OMIM</Source>
+                <Reference>150310</Reference>
+              </ExternalReference>
+              <ExternalReference id="59403">
+                <Source>Reactome</Source>
+                <Reference>Q13751</Reference>
+              </ExternalReference>
+              <ExternalReference id="33400">
+                <Source>SwissProt</Source>
+                <Reference>Q13751</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24491">
+                <GeneLocus>1q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301304[PMID]</SourceOfValidation>
+          <Gene id="16336">
+            <Name lang="en">laminin subunit gamma 2</Name>
+            <Symbol>LAMC2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BM600-100kDa</Synonym>
+              <Synonym lang="en">kalinin-105kDa</Synonym>
+              <Synonym lang="en">nicein-100kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59404">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000058085</Reference>
+              </ExternalReference>
+              <ExternalReference id="30830">
+                <Source>Genatlas</Source>
+                <Reference>LAMC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30832">
+                <Source>HGNC</Source>
+                <Reference>6493</Reference>
+              </ExternalReference>
+              <ExternalReference id="30831">
+                <Source>OMIM</Source>
+                <Reference>150292</Reference>
+              </ExternalReference>
+              <ExternalReference id="59405">
+                <Source>Reactome</Source>
+                <Reference>Q13753</Reference>
+              </ExternalReference>
+              <ExternalReference id="33401">
+                <Source>SwissProt</Source>
+                <Reference>Q13753</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23773">
+                <GeneLocus>1q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301304[PMID]</SourceOfValidation>
+          <Gene id="16333">
+            <Name lang="en">laminin subunit alpha 3</Name>
+            <Symbol>LAMA3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BM600-150kDa</Synonym>
+              <Synonym lang="en">epiligrin</Synonym>
+              <Synonym lang="en">kalinin-165kDa</Synonym>
+              <Synonym lang="en">nicein-150kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58196">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000053747</Reference>
+              </ExternalReference>
+              <ExternalReference id="30818">
+                <Source>Genatlas</Source>
+                <Reference>LAMA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="38657">
+                <Source>HGNC</Source>
+                <Reference>6483</Reference>
+              </ExternalReference>
+              <ExternalReference id="30815">
+                <Source>OMIM</Source>
+                <Reference>600805</Reference>
+              </ExternalReference>
+              <ExternalReference id="58197">
+                <Source>Reactome</Source>
+                <Reference>Q16787</Reference>
+              </ExternalReference>
+              <ExternalReference id="33398">
+                <Source>SwissProt</Source>
+                <Reference>Q16787</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9083">
+                <GeneLocus>18q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11432">
+      <OrphaCode>79406</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79406</ExpertLink>
+      <Name lang="en">Late-onset junctional epidermolysis bullosa</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15765">
+            <Name lang="en">collagen type XVII alpha 1 chain</Name>
+            <Symbol>COL17A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BP180</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000065618</Reference>
+              </ExternalReference>
+              <ExternalReference id="36864">
+                <Source>Genatlas</Source>
+                <Reference>COL17A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28081">
+                <Source>HGNC</Source>
+                <Reference>2194</Reference>
+              </ExternalReference>
+              <ExternalReference id="28080">
+                <Source>OMIM</Source>
+                <Reference>113811</Reference>
+              </ExternalReference>
+              <ExternalReference id="59401">
+                <Source>Reactome</Source>
+                <Reference>Q9UMD9</Reference>
+              </ExternalReference>
+              <ExternalReference id="32737">
+                <Source>SwissProt</Source>
+                <Reference>Q9UMD9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20565">
+                <GeneLocus>10q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11435">
+      <OrphaCode>79409</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79409</ExpertLink>
+      <Name lang="en">Recessive dystrophic epidermolysis bullosa inversa</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59408">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114270</Reference>
+              </ExternalReference>
+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
+              </ExternalReference>
+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24001">
+                <GeneLocus>3p21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11434">
+      <OrphaCode>79408</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79408</ExpertLink>
+      <Name lang="en">Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59408">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114270</Reference>
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+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
+              </ExternalReference>
+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
+              </ExternalReference>
+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+                <GeneLocus>3p21.31</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21204">
+            <Name lang="en">matrix metallopeptidase 1</Name>
+            <Symbol>MMP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">interstitial collagenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83449">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196611</Reference>
+              </ExternalReference>
+              <ExternalReference id="70380">
+                <Source>Genatlas</Source>
+                <Reference>MMP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="70378">
+                <Source>HGNC</Source>
+                <Reference>7155</Reference>
+              </ExternalReference>
+              <ExternalReference id="83450">
+                <Source>IUPHAR</Source>
+                <Reference>1628</Reference>
+              </ExternalReference>
+              <ExternalReference id="70379">
+                <Source>OMIM</Source>
+                <Reference>120353</Reference>
+              </ExternalReference>
+              <ExternalReference id="83448">
+                <Source>Reactome</Source>
+                <Reference>P03956</Reference>
+              </ExternalReference>
+              <ExternalReference id="70381">
+                <Source>SwissProt</Source>
+                <Reference>P03956</Reference>
+              </ExternalReference>
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+              <Locus id="14887">
+                <GeneLocus>11q22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11437">
+      <OrphaCode>79411</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79411</ExpertLink>
+      <Name lang="en">Self-improving dystrophic epidermolysis bullosa</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
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+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59408">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114270</Reference>
+              </ExternalReference>
+              <ExternalReference id="28159">
+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
+              </ExternalReference>
+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79410</ExpertLink>
+      <Name lang="en">Localized dystrophic epidermolysis bullosa, pretibial form</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="15781">
+            <Name lang="en">collagen type VII alpha 1 chain</Name>
+            <Symbol>COL7A1</Symbol>
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+              <Synonym lang="en">LC collagen</Synonym>
+              <Synonym lang="en">collagen VII, alpha-1 polypeptide</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59408">
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+                <Reference>ENSG00000114270</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL7A1</Reference>
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+              <ExternalReference id="28157">
+                <Source>HGNC</Source>
+                <Reference>2214</Reference>
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+              <ExternalReference id="28156">
+                <Source>OMIM</Source>
+                <Reference>120120</Reference>
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+              <ExternalReference id="82866">
+                <Source>Reactome</Source>
+                <Reference>Q02388</Reference>
+              </ExternalReference>
+              <ExternalReference id="32753">
+                <Source>SwissProt</Source>
+                <Reference>Q02388</Reference>
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+    <Disorder id="11478">
+      <OrphaCode>79452</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79452</ExpertLink>
+      <Name lang="en">Milroy disease</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">fms related receptor tyrosine kinase 4</Name>
+            <Symbol>FLT4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4</Synonym>
+              <Synonym lang="en">PCL</Synonym>
+              <Synonym lang="en">VEGF receptor-3</Synonym>
+              <Synonym lang="en">VEGFR-3</Synonym>
+              <Synonym lang="en">VEGFR3</Synonym>
+              <Synonym lang="en">primary congenital lymphedema</Synonym>
+              <Synonym lang="en">vascular endothelial growth factor receptor 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59411">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000037280</Reference>
+              </ExternalReference>
+              <ExternalReference id="29519">
+                <Source>Genatlas</Source>
+                <Reference>FLT4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3767</Reference>
+              </ExternalReference>
+              <ExternalReference id="82918">
+                <Source>IUPHAR</Source>
+                <Reference>1814</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136352</Reference>
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+              <ExternalReference id="59412">
+                <Source>Reactome</Source>
+                <Reference>P35916</Reference>
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+              <ExternalReference id="33076">
+                <Source>SwissProt</Source>
+                <Reference>P35916</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537300[PMID]_21266381[PMID]</SourceOfValidation>
+          <Gene id="16126">
+            <Name lang="en">gap junction protein gamma 2</Name>
+            <Symbol>GJC2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CX46.6</Synonym>
+              <Synonym lang="en">CX47</Synonym>
+              <Synonym lang="en">SPG44</Synonym>
+              <Synonym lang="en">connexin 47</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59413">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198835</Reference>
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+              <ExternalReference id="38646">
+                <Source>Genatlas</Source>
+                <Reference>GJC2</Reference>
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+              <ExternalReference id="29833">
+                <Source>HGNC</Source>
+                <Reference>17494</Reference>
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+              <ExternalReference id="29832">
+                <Source>OMIM</Source>
+                <Reference>608803</Reference>
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+              <ExternalReference id="59414">
+                <Source>Reactome</Source>
+                <Reference>Q5T442</Reference>
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+              <ExternalReference id="33141">
+                <Source>SwissProt</Source>
+                <Reference>Q5T442</Reference>
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+              <ExternalReference id="193605">
+                <Source>IUPHAR</Source>
+                <Reference>731</Reference>
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+            <LocusList count="1">
+              <Locus id="66619">
+                <GeneLocus>1q42.13</GeneLocus>
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+          </Gene>
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+      <OrphaCode>79455</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79455</ExpertLink>
+      <Name lang="en">Cutaneous mastocytoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18795925[PMID]_19865100[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58304">
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+                <Reference>ENSG00000157404</Reference>
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+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+                <Reference>6342</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>79435</OrphaCode>
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+      <Name lang="en">Oculocutaneous albinism type 4</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="15511">
+            <Name lang="en">solute carrier family 45 member 2</Name>
+            <Symbol>SLC45A2</Symbol>
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+              <Synonym lang="en">AIM-1</Synonym>
+              <Synonym lang="en">OCA4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193650">
+                <Source>IUPHAR</Source>
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+              <ExternalReference id="59410">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164175</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC45A2</Reference>
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+              <ExternalReference id="26881">
+                <Source>HGNC</Source>
+                <Reference>16472</Reference>
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+              <ExternalReference id="26880">
+                <Source>OMIM</Source>
+                <Reference>606202</Reference>
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+              <ExternalReference id="32482">
+                <Source>SwissProt</Source>
+                <Reference>Q9UMX9</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UMX9</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11460">
+      <OrphaCode>79434</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79434</ExpertLink>
+      <Name lang="en">Oculocutaneous albinism type 1B</Name>
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+            <Name lang="en">tyrosinase</Name>
+            <Symbol>TYR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">OCA1</Synonym>
+              <Synonym lang="en">OCA1A</Synonym>
+              <Synonym lang="en">OCAIA</Synonym>
+              <Synonym lang="en">oculocutaneous albinism IA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>TYR</Reference>
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+                <Reference>12442</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2643</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Oculocutaneous albinism type 3</Name>
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+              <Synonym lang="en">TRP</Synonym>
+              <Synonym lang="en">b-PROTEIN</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107165</Reference>
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+                <Reference>TYRP1</Reference>
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+      <Name lang="en">Oculocutaneous albinism type 2</Name>
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+            <Name lang="en">OCA2 melanosomal transmembrane protein</Name>
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+              <Synonym lang="en">BEY1</Synonym>
+              <Synonym lang="en">BEY2</Synonym>
+              <Synonym lang="en">EYCL</Synonym>
+              <Synonym lang="en">P-protein</Synonym>
+              <Synonym lang="en">melanocyte-specific transporter protein</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104044</Reference>
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+              <ExternalReference id="31985">
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+                <Reference>OCA2</Reference>
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+                <Reference>8101</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">melanocortin 1 receptor</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Oculocutaneous albinism type 1A</Name>
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+            <Name lang="en">tyrosinase</Name>
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+              <Synonym lang="en">OCA1A</Synonym>
+              <Synonym lang="en">OCAIA</Synonym>
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+                <Reference>ENSG00000077498</Reference>
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+                <Reference>2643</Reference>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+                <Reference>P84996</Reference>
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+                <Reference>ENSG00000087460</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Pseudohypoparathyroidism type 1C</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="16147">
+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
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+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P63092</Reference>
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+              <ExternalReference id="95207">
+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
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+              <ExternalReference id="95206">
+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+              <ExternalReference id="29938">
+                <Source>Genatlas</Source>
+                <Reference>GNAS</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4392</Reference>
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+                <Reference>139320</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Pseudohypoparathyroidism type 1A</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>GNAS</Symbol>
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+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+                <Reference>4392</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Phakomatosis cesioflammea</Name>
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+            <Symbol>GNAQ</Symbol>
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+              <Synonym lang="en">G-ALPHA-q</Synonym>
+              <Synonym lang="en">GAQ</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83829">
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+                <Reference>ENSG00000156052</Reference>
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+              <ExternalReference id="79468">
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+                <Reference>600998</Reference>
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+              <ExternalReference id="83828">
+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">FHH2</Synonym>
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+              <Synonym lang="en">exophilin-3</Synonym>
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+              <Synonym lang="en">myosin V</Synonym>
+              <Synonym lang="en">myosin heavy chain 12</Synonym>
+              <Synonym lang="en">myosin, heavy polypeptide kinase</Synonym>
+              <Synonym lang="en">myoxin</Synonym>
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+    <Disorder id="11502">
+      <OrphaCode>79476</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79476</ExpertLink>
+      <Name lang="en">Griscelli syndrome type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16508">
+            <Name lang="en">myosin VA</Name>
+            <Symbol>MYO5A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">GS1</Synonym>
+              <Synonym lang="en">MYO5</Synonym>
+              <Synonym lang="en">MYR12</Synonym>
+              <Synonym lang="en">myosin V</Synonym>
+              <Synonym lang="en">myosin heavy chain 12</Synonym>
+              <Synonym lang="en">myosin, heavy polypeptide kinase</Synonym>
+              <Synonym lang="en">myoxin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31626">
+                <Source>OMIM</Source>
+                <Reference>160777</Reference>
+              </ExternalReference>
+              <ExternalReference id="58973">
+                <Source>Reactome</Source>
+                <Reference>Q9Y4I1</Reference>
+              </ExternalReference>
+              <ExternalReference id="33573">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4I1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58972">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197535</Reference>
+              </ExternalReference>
+              <ExternalReference id="31625">
+                <Source>Genatlas</Source>
+                <Reference>MYO5A</Reference>
+              </ExternalReference>
+              <ExternalReference id="31627">
+                <Source>HGNC</Source>
+                <Reference>7602</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24525">
+                <GeneLocus>15q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11499">
+      <OrphaCode>79473</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79473</ExpertLink>
+      <Name lang="en">Porphyria variegata</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23409300[PMID]</SourceOfValidation>
+          <Gene id="15130">
+            <Name lang="en">protoporphyrinogen oxidase</Name>
+            <Symbol>PPOX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PPO</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59416">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143224</Reference>
+              </ExternalReference>
+              <ExternalReference id="37319">
+                <Source>Genatlas</Source>
+                <Reference>PPOX</Reference>
+              </ExternalReference>
+              <ExternalReference id="25054">
+                <Source>HGNC</Source>
+                <Reference>9280</Reference>
+              </ExternalReference>
+              <ExternalReference id="25053">
+                <Source>OMIM</Source>
+                <Reference>600923</Reference>
+              </ExternalReference>
+              <ExternalReference id="59417">
+                <Source>Reactome</Source>
+                <Reference>P50336</Reference>
+              </ExternalReference>
+              <ExternalReference id="33241">
+                <Source>SwissProt</Source>
+                <Reference>P50336</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20899">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11295">
+      <OrphaCode>79269</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79269</ExpertLink>
+      <Name lang="en">Sanfilippo syndrome type A</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15146460[PMID]</SourceOfValidation>
+          <Gene id="15285">
+            <Name lang="en">N-sulfoglucosamine sulfohydrolase</Name>
+            <Symbol>SGSH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HSS</Synonym>
+              <Synonym lang="en">MPS3A</Synonym>
+              <Synonym lang="en">SFMD</Synonym>
+              <Synonym lang="en">mucopolysaccharidosis type IIIA</Synonym>
+              <Synonym lang="en">sulfamidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59328">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181523</Reference>
+              </ExternalReference>
+              <ExternalReference id="25783">
+                <Source>Genatlas</Source>
+                <Reference>SGSH</Reference>
+              </ExternalReference>
+              <ExternalReference id="25785">
+                <Source>HGNC</Source>
+                <Reference>10818</Reference>
+              </ExternalReference>
+              <ExternalReference id="25784">
+                <Source>OMIM</Source>
+                <Reference>605270</Reference>
+              </ExternalReference>
+              <ExternalReference id="82779">
+                <Source>Reactome</Source>
+                <Reference>P51688</Reference>
+              </ExternalReference>
+              <ExternalReference id="33843">
+                <Source>SwissProt</Source>
+                <Reference>P51688</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7131">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11283">
+      <OrphaCode>79257</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79257</ExpertLink>
+      <Name lang="en">GM1 gangliosidosis type 3</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24156116[PMID]</SourceOfValidation>
+          <Gene id="16136">
+            <Name lang="en">galactosidase beta 1</Name>
+            <Symbol>GLB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EBP</Synonym>
+              <Synonym lang="en">elastin binding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170266</Reference>
+              </ExternalReference>
+              <ExternalReference id="29880">
+                <Source>Genatlas</Source>
+                <Reference>GLB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29882">
+                <Source>HGNC</Source>
+                <Reference>4298</Reference>
+              </ExternalReference>
+              <ExternalReference id="50649">
+                <Source>OMIM</Source>
+                <Reference>611458</Reference>
+              </ExternalReference>
+              <ExternalReference id="57742">
+                <Source>Reactome</Source>
+                <Reference>P16278</Reference>
+              </ExternalReference>
+              <ExternalReference id="33151">
+                <Source>SwissProt</Source>
+                <Reference>P16278</Reference>
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+              <Locus id="8713">
+                <GeneLocus>3p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11282">
+      <OrphaCode>79256</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79256</ExpertLink>
+      <Name lang="en">GM1 gangliosidosis type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24156116[PMID]</SourceOfValidation>
+          <Gene id="16136">
+            <Name lang="en">galactosidase beta 1</Name>
+            <Symbol>GLB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EBP</Synonym>
+              <Synonym lang="en">elastin binding protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170266</Reference>
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+              <ExternalReference id="29880">
+                <Source>Genatlas</Source>
+                <Reference>GLB1</Reference>
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+              <ExternalReference id="29882">
+                <Source>HGNC</Source>
+                <Reference>4298</Reference>
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+              <ExternalReference id="50649">
+                <Source>OMIM</Source>
+                <Reference>611458</Reference>
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+              <ExternalReference id="57742">
+                <Source>Reactome</Source>
+                <Reference>P16278</Reference>
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+              <ExternalReference id="33151">
+                <Source>SwissProt</Source>
+                <Reference>P16278</Reference>
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+                <GeneLocus>3p22.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11281">
+      <OrphaCode>79255</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79255</ExpertLink>
+      <Name lang="en">GM1 gangliosidosis type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24156116[PMID]</SourceOfValidation>
+          <Gene id="16136">
+            <Name lang="en">galactosidase beta 1</Name>
+            <Symbol>GLB1</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">elastin binding protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170266</Reference>
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+              <ExternalReference id="29880">
+                <Source>Genatlas</Source>
+                <Reference>GLB1</Reference>
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+              <ExternalReference id="29882">
+                <Source>HGNC</Source>
+                <Reference>4298</Reference>
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+              <ExternalReference id="50649">
+                <Source>OMIM</Source>
+                <Reference>611458</Reference>
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+              <ExternalReference id="57742">
+                <Source>Reactome</Source>
+                <Reference>P16278</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16278</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11280">
+      <OrphaCode>79254</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79254</ExpertLink>
+      <Name lang="en">Classic phenylketonuria</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301677[PMID]</SourceOfValidation>
+          <Gene id="16605">
+            <Name lang="en">phenylalanine hydroxylase</Name>
+            <Symbol>PAH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PH</Synonym>
+              <Synonym lang="en">phenylalanine 4-monooxygenase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59322">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171759</Reference>
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+              <ExternalReference id="32085">
+                <Source>Genatlas</Source>
+                <Reference>PAH</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8582</Reference>
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+              <ExternalReference id="83020">
+                <Source>IUPHAR</Source>
+                <Reference>1240</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612349</Reference>
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+              <ExternalReference id="59323">
+                <Source>Reactome</Source>
+                <Reference>P00439</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00439</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <Name lang="en">Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib</Name>
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+            <Name lang="en">solute carrier family 37 member 4</Name>
+            <Symbol>SLC37A4</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">GSD1c</Synonym>
+              <Synonym lang="en">GSD1d</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59326">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137700</Reference>
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+              <ExternalReference id="26643">
+                <Source>Genatlas</Source>
+                <Reference>SLC37A4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4061</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43826</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O43826</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia</Name>
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+          <Gene id="16086">
+            <Name lang="en">glucose-6-phosphatase catalytic subunit 1</Name>
+            <Symbol>G6PC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">G6PC1</Synonym>
+              <Synonym lang="en">GSD1a</Synonym>
+              <Synonym lang="en">glycogen storage disease type I, von Gierke disease</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>4056</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613742</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35575</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131482</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>G6PC</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>79246</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79246</ExpertLink>
+      <Name lang="en">Pyruvate dehydrogenase phosphatase deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15855260[PMID]</SourceOfValidation>
+          <Gene id="17188">
+            <Name lang="en">pyruvate dehydrogenase phosphatase catalytic subunit 1</Name>
+            <Symbol>PDP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PDH</Synonym>
+              <Synonym lang="en">PDP</Synonym>
+              <Synonym lang="en">PPM2A</Synonym>
+              <Synonym lang="en">protein phosphatase, Mg2+/Mn2+ dependent 2A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59320">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164951</Reference>
+              </ExternalReference>
+              <ExternalReference id="46836">
+                <Source>Genatlas</Source>
+                <Reference>PDP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36219">
+                <Source>HGNC</Source>
+                <Reference>9279</Reference>
+              </ExternalReference>
+              <ExternalReference id="36221">
+                <Source>OMIM</Source>
+                <Reference>605993</Reference>
+              </ExternalReference>
+              <ExternalReference id="59321">
+                <Source>Reactome</Source>
+                <Reference>Q9P0J1</Reference>
+              </ExternalReference>
+              <ExternalReference id="46807">
+                <Source>SwissProt</Source>
+                <Reference>Q9P0J1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9887">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11279">
+      <OrphaCode>79253</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79253</ExpertLink>
+      <Name lang="en">Mild phenylketonuria</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301677[PMID]</SourceOfValidation>
+          <Gene id="16605">
+            <Name lang="en">phenylalanine hydroxylase</Name>
+            <Symbol>PAH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PH</Synonym>
+              <Synonym lang="en">phenylalanine 4-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59322">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171759</Reference>
+              </ExternalReference>
+              <ExternalReference id="32085">
+                <Source>Genatlas</Source>
+                <Reference>PAH</Reference>
+              </ExternalReference>
+              <ExternalReference id="32087">
+                <Source>HGNC</Source>
+                <Reference>8582</Reference>
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+              <ExternalReference id="83020">
+                <Source>IUPHAR</Source>
+                <Reference>1240</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612349</Reference>
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+              <ExternalReference id="59323">
+                <Source>Reactome</Source>
+                <Reference>P00439</Reference>
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+              <ExternalReference id="33670">
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+                <Reference>P00439</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79240</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="15087">
+            <Name lang="en">phosphorylase kinase regulatory subunit beta</Name>
+            <Symbol>PHKB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102893</Reference>
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+              <ExternalReference id="24844">
+                <Source>Genatlas</Source>
+                <Reference>PHKB</Reference>
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+              <ExternalReference id="24846">
+                <Source>HGNC</Source>
+                <Reference>8927</Reference>
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+              <ExternalReference id="24845">
+                <Source>OMIM</Source>
+                <Reference>172490</Reference>
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+              <ExternalReference id="59315">
+                <Source>Reactome</Source>
+                <Reference>Q93100</Reference>
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+              <ExternalReference id="32778">
+                <Source>SwissProt</Source>
+                <Reference>Q93100</Reference>
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+                <GeneLocus>16q12.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79241</ExpertLink>
+      <Name lang="en">Biotinidase deficiency</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301497[PMID]</SourceOfValidation>
+          <Gene id="15382">
+            <Name lang="en">biotinidase</Name>
+            <Symbol>BTD</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">biotinase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="26250">
+                <Source>OMIM</Source>
+                <Reference>609019</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P43251</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P43251</Reference>
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+              <ExternalReference id="59316">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169814</Reference>
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+              <ExternalReference id="26253">
+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Classic galactosemia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Pyruvate dehydrogenase E2 deficiency</Name>
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+      <Name lang="en">Holocarboxylase synthetase deficiency</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11327">
+      <OrphaCode>79301</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79301</ExpertLink>
+      <Name lang="en">Congenital bile acid synthesis defect type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12679481[PMID]</SourceOfValidation>
+          <Gene id="16227">
+            <Name lang="en">hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7</Name>
+            <Symbol>HSD3B7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C(27)-3BETA-HSD</Synonym>
+              <Synonym lang="en">SDR11E3</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 11E, member 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59346">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099377</Reference>
+              </ExternalReference>
+              <ExternalReference id="30315">
+                <Source>Genatlas</Source>
+                <Reference>HSD3B7</Reference>
+              </ExternalReference>
+              <ExternalReference id="30317">
+                <Source>HGNC</Source>
+                <Reference>18324</Reference>
+              </ExternalReference>
+              <ExternalReference id="30316">
+                <Source>OMIM</Source>
+                <Reference>607764</Reference>
+              </ExternalReference>
+              <ExternalReference id="59347">
+                <Source>Reactome</Source>
+                <Reference>Q9H2F3</Reference>
+              </ExternalReference>
+              <ExternalReference id="33291">
+                <Source>SwissProt</Source>
+                <Reference>Q9H2F3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8881">
+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11319">
+      <OrphaCode>79293</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79293</ExpertLink>
+      <Name lang="en">Familial LCAT deficiency</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9162740[PMID]</SourceOfValidation>
+          <Gene id="16341">
+            <Name lang="en">lecithin-cholesterol acyltransferase</Name>
+            <Symbol>LCAT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">phosphatidylcholine--sterol O-acyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59344">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213398</Reference>
+              </ExternalReference>
+              <ExternalReference id="30854">
+                <Source>Genatlas</Source>
+                <Reference>LCAT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30856">
+                <Source>HGNC</Source>
+                <Reference>6522</Reference>
+              </ExternalReference>
+              <ExternalReference id="30855">
+                <Source>OMIM</Source>
+                <Reference>606967</Reference>
+              </ExternalReference>
+              <ExternalReference id="59345">
+                <Source>Reactome</Source>
+                <Reference>P04180</Reference>
+              </ExternalReference>
+              <ExternalReference id="33406">
+                <Source>SwissProt</Source>
+                <Reference>P04180</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9097">
+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11318">
+      <OrphaCode>79292</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79292</ExpertLink>
+      <Name lang="en">Fish-eye disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9162740[PMID]</SourceOfValidation>
+          <Gene id="16341">
+            <Name lang="en">lecithin-cholesterol acyltransferase</Name>
+            <Symbol>LCAT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">phosphatidylcholine--sterol O-acyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59344">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213398</Reference>
+              </ExternalReference>
+              <ExternalReference id="30854">
+                <Source>Genatlas</Source>
+                <Reference>LCAT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30856">
+                <Source>HGNC</Source>
+                <Reference>6522</Reference>
+              </ExternalReference>
+              <ExternalReference id="30855">
+                <Source>OMIM</Source>
+                <Reference>606967</Reference>
+              </ExternalReference>
+              <ExternalReference id="59345">
+                <Source>Reactome</Source>
+                <Reference>P04180</Reference>
+              </ExternalReference>
+              <ExternalReference id="33406">
+                <Source>SwissProt</Source>
+                <Reference>P04180</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9097">
+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11304">
+      <OrphaCode>79278</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79278</ExpertLink>
+      <Name lang="en">Autosomal erythropoietic protoporphyria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23016163[PMID]</SourceOfValidation>
+          <Gene id="16039">
+            <Name lang="en">ferrochelatase</Name>
+            <Symbol>FECH</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">protoporphyria</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59339">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066926</Reference>
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+              <ExternalReference id="29399">
+                <Source>Genatlas</Source>
+                <Reference>FECH</Reference>
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+              <ExternalReference id="29397">
+                <Source>HGNC</Source>
+                <Reference>3647</Reference>
+              </ExternalReference>
+              <ExternalReference id="39835">
+                <Source>OMIM</Source>
+                <Reference>612386</Reference>
+              </ExternalReference>
+              <ExternalReference id="59340">
+                <Source>Reactome</Source>
+                <Reference>P22830</Reference>
+              </ExternalReference>
+              <ExternalReference id="33053">
+                <Source>SwissProt</Source>
+                <Reference>P22830</Reference>
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+                <GeneLocus>18q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11305">
+      <OrphaCode>79279</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79279</ExpertLink>
+      <Name lang="en">Alpha-N-acetylgalactosaminidase deficiency type 1</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation/>
+          <Gene id="16513">
+            <Name lang="en">alpha-N-acetylgalactosaminidase</Name>
+            <Symbol>NAGA</Symbol>
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+              <Synonym lang="en">D22S674</Synonym>
+              <Synonym lang="en">alpha-galactosidase B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57617">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198951</Reference>
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+              <ExternalReference id="31653">
+                <Source>Genatlas</Source>
+                <Reference>NAGA</Reference>
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+              <ExternalReference id="31651">
+                <Source>HGNC</Source>
+                <Reference>7631</Reference>
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+              <ExternalReference id="31650">
+                <Source>OMIM</Source>
+                <Reference>104170</Reference>
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+              <ExternalReference id="33578">
+                <Source>SwissProt</Source>
+                <Reference>P17050</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11306">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79280</ExpertLink>
+      <Name lang="en">Alpha-N-acetylgalactosaminidase deficiency type 2</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="16513">
+            <Name lang="en">alpha-N-acetylgalactosaminidase</Name>
+            <Symbol>NAGA</Symbol>
+            <SynonymList count="2">
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+              <Synonym lang="en">alpha-galactosidase B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57617">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198951</Reference>
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+              <ExternalReference id="31653">
+                <Source>Genatlas</Source>
+                <Reference>NAGA</Reference>
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+              <ExternalReference id="31651">
+                <Source>HGNC</Source>
+                <Reference>7631</Reference>
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+              <ExternalReference id="31650">
+                <Source>OMIM</Source>
+                <Reference>104170</Reference>
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+              <ExternalReference id="33578">
+                <Source>SwissProt</Source>
+                <Reference>P17050</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11307">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79281</ExpertLink>
+      <Name lang="en">Alpha-N-acetylgalactosaminidase deficiency type 3</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="16513">
+            <Name lang="en">alpha-N-acetylgalactosaminidase</Name>
+            <Symbol>NAGA</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">D22S674</Synonym>
+              <Synonym lang="en">alpha-galactosidase B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198951</Reference>
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+              <ExternalReference id="31653">
+                <Source>Genatlas</Source>
+                <Reference>NAGA</Reference>
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+              <ExternalReference id="31651">
+                <Source>HGNC</Source>
+                <Reference>7631</Reference>
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+              <ExternalReference id="31650">
+                <Source>OMIM</Source>
+                <Reference>104170</Reference>
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+              <ExternalReference id="33578">
+                <Source>SwissProt</Source>
+                <Reference>P17050</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11308">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79282</ExpertLink>
+      <Name lang="en">Methylmalonic acidemia with homocystinuria, type cblC</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">metabolism of cobalamin associated C</Name>
+            <Symbol>MMACHC</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132763</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MMACHC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24525</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609831</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y4U1</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y4U1</Reference>
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+      <Name lang="en">Methylmalonic acidemia with homocystinuria, type cblD</Name>
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+            <Name lang="en">metabolism of cobalamin associated D</Name>
+            <Symbol>MMADHC</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168288</Reference>
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+              <ExternalReference id="40123">
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+                <Reference>MMADHC</Reference>
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+              <ExternalReference id="40124">
+                <Source>HGNC</Source>
+                <Reference>25221</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611935</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H3L0</Reference>
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+                <Reference>Q9H3L0</Reference>
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+      <Name lang="en">Methylmalonic acidemia with homocystinuria type cblF</Name>
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+            <Name lang="en">LMBR1 domain containing 1</Name>
+            <Symbol>LMBRD1</Symbol>
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+              <Synonym lang="en">bA810I22.1</Synonym>
+              <Synonym lang="en">cblF</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168216</Reference>
+              </ExternalReference>
+              <ExternalReference id="40617">
+                <Source>Genatlas</Source>
+                <Reference>LMBRD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40618">
+                <Source>HGNC</Source>
+                <Reference>23038</Reference>
+              </ExternalReference>
+              <ExternalReference id="40619">
+                <Source>OMIM</Source>
+                <Reference>612625</Reference>
+              </ExternalReference>
+              <ExternalReference id="83127">
+                <Source>Reactome</Source>
+                <Reference>Q9NUN5</Reference>
+              </ExternalReference>
+              <ExternalReference id="40620">
+                <Source>SwissProt</Source>
+                <Reference>Q9NUN5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10557">
+                <GeneLocus>6q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11296">
+      <OrphaCode>79270</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79270</ExpertLink>
+      <Name lang="en">Sanfilippo syndrome type B</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16151907[PMID]</SourceOfValidation>
+          <Gene id="16514">
+            <Name lang="en">N-acetyl-alpha-glucosaminidase</Name>
+            <Symbol>NAGLU</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NAG</Synonym>
+              <Synonym lang="en">Sanfilippo disease IIIB</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59329">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108784</Reference>
+              </ExternalReference>
+              <ExternalReference id="31655">
+                <Source>Genatlas</Source>
+                <Reference>NAGLU</Reference>
+              </ExternalReference>
+              <ExternalReference id="31657">
+                <Source>HGNC</Source>
+                <Reference>7632</Reference>
+              </ExternalReference>
+              <ExternalReference id="31656">
+                <Source>OMIM</Source>
+                <Reference>609701</Reference>
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+              <ExternalReference id="83009">
+                <Source>Reactome</Source>
+                <Reference>P54802</Reference>
+              </ExternalReference>
+              <ExternalReference id="33579">
+                <Source>SwissProt</Source>
+                <Reference>P54802</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11297">
+      <OrphaCode>79271</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79271</ExpertLink>
+      <Name lang="en">Sanfilippo syndrome type C</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17033958[PMID]</SourceOfValidation>
+          <Gene id="16197">
+            <Name lang="en">heparan-alpha-glucosaminide N-acetyltransferase</Name>
+            <Symbol>HGSNAT</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ32731</Synonym>
+              <Synonym lang="en">HGNAT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33215">
+                <Source>SwissProt</Source>
+                <Reference>Q68CP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="59330">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165102</Reference>
+              </ExternalReference>
+              <ExternalReference id="30175">
+                <Source>Genatlas</Source>
+                <Reference>HGSNAT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30173">
+                <Source>HGNC</Source>
+                <Reference>26527</Reference>
+              </ExternalReference>
+              <ExternalReference id="30172">
+                <Source>OMIM</Source>
+                <Reference>610453</Reference>
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+              <ExternalReference id="97227">
+                <Source>Reactome</Source>
+                <Reference>Q68CP4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>8p11.21-p11.1</GeneLocus>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11298">
+      <OrphaCode>79272</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79272</ExpertLink>
+      <Name lang="en">Sanfilippo syndrome type D</Name>
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+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12573255[PMID]_17998446[PMID]</SourceOfValidation>
+          <Gene id="16155">
+            <Name lang="en">glucosamine (N-acetyl)-6-sulfatase</Name>
+            <Symbol>GNS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">N-acetylglucosamine-6-sulfatase</Synonym>
+              <Synonym lang="en">Sanfilippo disease IIID</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59331">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135677</Reference>
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+              <ExternalReference id="29977">
+                <Source>Genatlas</Source>
+                <Reference>GNS</Reference>
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+              <ExternalReference id="29975">
+                <Source>HGNC</Source>
+                <Reference>4422</Reference>
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+              <ExternalReference id="29974">
+                <Source>OMIM</Source>
+                <Reference>607664</Reference>
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+              <ExternalReference id="59332">
+                <Source>Reactome</Source>
+                <Reference>P15586</Reference>
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+              <ExternalReference id="33174">
+                <Source>SwissProt</Source>
+                <Reference>P15586</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11299">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79273</ExpertLink>
+      <Name lang="en">Hereditary coproporphyria</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23236641[PMID]</SourceOfValidation>
+          <Gene id="15793">
+            <Name lang="en">coproporphyrinogen oxidase</Name>
+            <Symbol>CPOX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CPX</Synonym>
+              <Synonym lang="en">HCP</Synonym>
+              <Synonym lang="en">coproporphyria</Synonym>
+              <Synonym lang="en">homozygous coproporphyria</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59333">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080819</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2321</Reference>
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+                <Reference>612732</Reference>
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+              <ExternalReference id="59334">
+                <Source>Reactome</Source>
+                <Reference>P36551</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P36551</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11302">
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+      <Name lang="en">Acute intermittent porphyria</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301372[PMID]</SourceOfValidation>
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+            <Name lang="en">hydroxymethylbilane synthase</Name>
+            <Symbol>HMBS</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000256269</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Congenital erythropoietic porphyria</Name>
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+            <Name lang="en">uroporphyrinogen III synthase</Name>
+            <Symbol>UROS</Symbol>
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+              <Synonym lang="en">congenital erythropoietic porphyria</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
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+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168434</Reference>
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+      <Name lang="en">B4GALT1-CDG</Name>
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+                <Reference>B4GALT1</Reference>
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+                <Reference>924</Reference>
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+      <Name lang="en">MOGS-CDG</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="18347">
+            <Name lang="en">mannosyl-oligosaccharide glucosidase</Name>
+            <Symbol>MOGS</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CWH41</Synonym>
+              <Synonym lang="en">DER7</Synonym>
+              <Synonym lang="en">GCS1</Synonym>
+              <Synonym lang="en">glucosidase I</Synonym>
+              <Synonym lang="en">processing A-glucosidase I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115275</Reference>
+              </ExternalReference>
+              <ExternalReference id="99995">
+                <Source>Genatlas</Source>
+                <Reference>MOGS</Reference>
+              </ExternalReference>
+              <ExternalReference id="41658">
+                <Source>HGNC</Source>
+                <Reference>24862</Reference>
+              </ExternalReference>
+              <ExternalReference id="41659">
+                <Source>OMIM</Source>
+                <Reference>601336</Reference>
+              </ExternalReference>
+              <ExternalReference id="59388">
+                <Source>Reactome</Source>
+                <Reference>Q13724</Reference>
+              </ExternalReference>
+              <ExternalReference id="41660">
+                <Source>SwissProt</Source>
+                <Reference>Q13724</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18921">
+                <GeneLocus>2p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11355">
+      <OrphaCode>79329</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79329</ExpertLink>
+      <Name lang="en">MGAT2-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="16396">
+            <Name lang="en">alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase</Name>
+            <Symbol>MGAT2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GNT-II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="31116">
+                <Source>Genatlas</Source>
+                <Reference>MGAT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31114">
+                <Source>HGNC</Source>
+                <Reference>7045</Reference>
+              </ExternalReference>
+              <ExternalReference id="31113">
+                <Source>OMIM</Source>
+                <Reference>602616</Reference>
+              </ExternalReference>
+              <ExternalReference id="59386">
+                <Source>Reactome</Source>
+                <Reference>Q10469</Reference>
+              </ExternalReference>
+              <ExternalReference id="33460">
+                <Source>SwissProt</Source>
+                <Reference>Q10469</Reference>
+              </ExternalReference>
+              <ExternalReference id="59385">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168282</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23259">
+                <GeneLocus>14q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11354">
+      <OrphaCode>79328</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79328</ExpertLink>
+      <Name lang="en">ALG9-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15500">
+            <Name lang="en">ALG9 alpha-1,2-mannosyltransferase</Name>
+            <Symbol>ALG9</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">dol-P-Man dependent alpha-1,2-mannosyltransferase</Synonym>
+              <Synonym lang="en">dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase</Synonym>
+              <Synonym lang="en">dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59383">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000086848</Reference>
+              </ExternalReference>
+              <ExternalReference id="26827">
+                <Source>Genatlas</Source>
+                <Reference>ALG9</Reference>
+              </ExternalReference>
+              <ExternalReference id="26829">
+                <Source>HGNC</Source>
+                <Reference>15672</Reference>
+              </ExternalReference>
+              <ExternalReference id="26828">
+                <Source>OMIM</Source>
+                <Reference>606941</Reference>
+              </ExternalReference>
+              <ExternalReference id="59384">
+                <Source>Reactome</Source>
+                <Reference>Q9H6U8</Reference>
+              </ExternalReference>
+              <ExternalReference id="32471">
+                <Source>SwissProt</Source>
+                <Reference>Q9H6U8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23899">
+                <GeneLocus>11q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11353">
+      <OrphaCode>79327</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79327</ExpertLink>
+      <Name lang="en">ALG1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15493">
+            <Name lang="en">ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase</Name>
+            <Symbol>ALG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CDG1K</Synonym>
+              <Synonym lang="en">HMAT1</Synonym>
+              <Synonym lang="en">HMT-1</Synonym>
+              <Synonym lang="en">Mat-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="26797">
+                <Source>Genatlas</Source>
+                <Reference>ALG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26795">
+                <Source>HGNC</Source>
+                <Reference>18294</Reference>
+              </ExternalReference>
+              <ExternalReference id="26794">
+                <Source>OMIM</Source>
+                <Reference>605907</Reference>
+              </ExternalReference>
+              <ExternalReference id="59382">
+                <Source>Reactome</Source>
+                <Reference>Q9BT22</Reference>
+              </ExternalReference>
+              <ExternalReference id="32464">
+                <Source>SwissProt</Source>
+                <Reference>Q9BT22</Reference>
+              </ExternalReference>
+              <ExternalReference id="59381">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000033011</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7511">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11352">
+      <OrphaCode>79326</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79326</ExpertLink>
+      <Name lang="en">ALG2-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15496">
+            <Name lang="en">ALG2 alpha-1,3/1,6-mannosyltransferase</Name>
+            <Symbol>ALG2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDG1I</Synonym>
+              <Synonym lang="en">CDGIi</Synonym>
+              <Synonym lang="en">FLJ14511</Synonym>
+              <Synonym lang="en">NET38</Synonym>
+              <Synonym lang="en">hALPG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59379">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119523</Reference>
+              </ExternalReference>
+              <ExternalReference id="36882">
+                <Source>Genatlas</Source>
+                <Reference>ALG2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26809">
+                <Source>HGNC</Source>
+                <Reference>23159</Reference>
+              </ExternalReference>
+              <ExternalReference id="26808">
+                <Source>OMIM</Source>
+                <Reference>607905</Reference>
+              </ExternalReference>
+              <ExternalReference id="59380">
+                <Source>Reactome</Source>
+                <Reference>Q9H553</Reference>
+              </ExternalReference>
+              <ExternalReference id="32467">
+                <Source>SwissProt</Source>
+                <Reference>Q9H553</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20885">
+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11351">
+      <OrphaCode>79325</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79325</ExpertLink>
+      <Name lang="en">ALG8-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15499">
+            <Name lang="en">ALG8 alpha-1,3-glucosyltransferase</Name>
+            <Symbol>ALG8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MGC2840</Synonym>
+              <Synonym lang="en">dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1-&gt;3-glucosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59377">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159063</Reference>
+              </ExternalReference>
+              <ExternalReference id="26825">
+                <Source>Genatlas</Source>
+                <Reference>ALG8</Reference>
+              </ExternalReference>
+              <ExternalReference id="26823">
+                <Source>HGNC</Source>
+                <Reference>23161</Reference>
+              </ExternalReference>
+              <ExternalReference id="26822">
+                <Source>OMIM</Source>
+                <Reference>608103</Reference>
+              </ExternalReference>
+              <ExternalReference id="59378">
+                <Source>Reactome</Source>
+                <Reference>Q9BVK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32470">
+                <Source>SwissProt</Source>
+                <Reference>Q9BVK2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7521">
+                <GeneLocus>11q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11350">
+      <OrphaCode>79324</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79324</ExpertLink>
+      <Name lang="en">ALG12-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15495">
+            <Name lang="en">ALG12 alpha-1,6-mannosyltransferase</Name>
+            <Symbol>ALG12</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CDG1G</Synonym>
+              <Synonym lang="en">ECM39</Synonym>
+              <Synonym lang="en">dol-P-Man dependent alpha-1,6-mannosyltransferase</Synonym>
+              <Synonym lang="en">dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59375">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182858</Reference>
+              </ExternalReference>
+              <ExternalReference id="26806">
+                <Source>Genatlas</Source>
+                <Reference>ALG12</Reference>
+              </ExternalReference>
+              <ExternalReference id="26804">
+                <Source>HGNC</Source>
+                <Reference>19358</Reference>
+              </ExternalReference>
+              <ExternalReference id="26803">
+                <Source>OMIM</Source>
+                <Reference>607144</Reference>
+              </ExternalReference>
+              <ExternalReference id="59376">
+                <Source>Reactome</Source>
+                <Reference>Q9BV10</Reference>
+              </ExternalReference>
+              <ExternalReference id="32466">
+                <Source>SwissProt</Source>
+                <Reference>Q9BV10</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7513">
+                <GeneLocus>22q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11349">
+      <OrphaCode>79323</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79323</ExpertLink>
+      <Name lang="en">MPDU1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="16458">
+            <Name lang="en">mannose-P-dolichol utilization defect 1</Name>
+            <Symbol>MPDU1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDGIf</Synonym>
+              <Synonym lang="en">Lec35</Synonym>
+              <Synonym lang="en">PQLC5</Synonym>
+              <Synonym lang="en">SL15</Synonym>
+              <Synonym lang="en">SLC66A5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190401">
+                <Source>IUPHAR</Source>
+                <Reference>3164</Reference>
+              </ExternalReference>
+              <ExternalReference id="59374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129255</Reference>
+              </ExternalReference>
+              <ExternalReference id="31396">
+                <Source>Genatlas</Source>
+                <Reference>MPDU1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31394">
+                <Source>HGNC</Source>
+                <Reference>7207</Reference>
+              </ExternalReference>
+              <ExternalReference id="31393">
+                <Source>OMIM</Source>
+                <Reference>604041</Reference>
+              </ExternalReference>
+              <ExternalReference id="97236">
+                <Source>Reactome</Source>
+                <Reference>O75352</Reference>
+              </ExternalReference>
+              <ExternalReference id="33523">
+                <Source>SwissProt</Source>
+                <Reference>O75352</Reference>
+              </ExternalReference>
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+              <Locus id="60211">
+                <GeneLocus>17p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    </Disorder>
+    <Disorder id="11348">
+      <OrphaCode>79322</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79322</ExpertLink>
+      <Name lang="en">DPM1-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15886">
+            <Name lang="en">dolichyl-phosphate mannosyltransferase subunit 1, catalytic</Name>
+            <Symbol>DPM1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CDGIE</Synonym>
+              <Synonym lang="en">DPM synthase complex, catalytic subunit</Synonym>
+              <Synonym lang="en">MPDS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59372">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000000419</Reference>
+              </ExternalReference>
+              <ExternalReference id="28656">
+                <Source>Genatlas</Source>
+                <Reference>DPM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28654">
+                <Source>HGNC</Source>
+                <Reference>3005</Reference>
+              </ExternalReference>
+              <ExternalReference id="28653">
+                <Source>OMIM</Source>
+                <Reference>603503</Reference>
+              </ExternalReference>
+              <ExternalReference id="59373">
+                <Source>Reactome</Source>
+                <Reference>O60762</Reference>
+              </ExternalReference>
+              <ExternalReference id="32897">
+                <Source>SwissProt</Source>
+                <Reference>O60762</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="20987">
+                <GeneLocus>20q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11347">
+      <OrphaCode>79321</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79321</ExpertLink>
+      <Name lang="en">ALG3-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15497">
+            <Name lang="en">ALG3 alpha-1,3- mannosyltransferase</Name>
+            <Symbol>ALG3</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDGS4</Synonym>
+              <Synonym lang="en">D16Ertd36e</Synonym>
+              <Synonym lang="en">NOT56L</Synonym>
+              <Synonym lang="en">Not56</Synonym>
+              <Synonym lang="en">carbohydrate deficient glycoprotein syndrome type IV</Synonym>
+              <Synonym lang="en">dol-P-Man dependent alpha-1,3- mannosyltransferase</Synonym>
+              <Synonym lang="en">dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59371">
+                <Source>Reactome</Source>
+                <Reference>Q92685</Reference>
+              </ExternalReference>
+              <ExternalReference id="32468">
+                <Source>SwissProt</Source>
+                <Reference>Q92685</Reference>
+              </ExternalReference>
+              <ExternalReference id="59370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214160</Reference>
+              </ExternalReference>
+              <ExternalReference id="26815">
+                <Source>Genatlas</Source>
+                <Reference>ALG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="26813">
+                <Source>HGNC</Source>
+                <Reference>23056</Reference>
+              </ExternalReference>
+              <ExternalReference id="26812">
+                <Source>OMIM</Source>
+                <Reference>608750</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21969">
+                <GeneLocus>3q27.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11346">
+      <OrphaCode>79320</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79320</ExpertLink>
+      <Name lang="en">ALG6-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="15498">
+            <Name lang="en">ALG6 alpha-1,3-glucosyltransferase</Name>
+            <Symbol>ALG6</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1-&gt;3-glucosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59368">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088035</Reference>
+              </ExternalReference>
+              <ExternalReference id="26817">
+                <Source>Genatlas</Source>
+                <Reference>ALG6</Reference>
+              </ExternalReference>
+              <ExternalReference id="26819">
+                <Source>HGNC</Source>
+                <Reference>23157</Reference>
+              </ExternalReference>
+              <ExternalReference id="26818">
+                <Source>OMIM</Source>
+                <Reference>604566</Reference>
+              </ExternalReference>
+              <ExternalReference id="59369">
+                <Source>Reactome</Source>
+                <Reference>Q9Y672</Reference>
+              </ExternalReference>
+              <ExternalReference id="32469">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y672</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7519">
+                <GeneLocus>1p31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11345">
+      <OrphaCode>79319</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79319</ExpertLink>
+      <Name lang="en">MPI-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301507[PMID]</SourceOfValidation>
+          <Gene id="16459">
+            <Name lang="en">mannose phosphate isomerase</Name>
+            <Symbol>MPI</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">mannose-6-phosphate isomerase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59366">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178802</Reference>
+              </ExternalReference>
+              <ExternalReference id="31398">
+                <Source>Genatlas</Source>
+                <Reference>MPI</Reference>
+              </ExternalReference>
+              <ExternalReference id="31400">
+                <Source>HGNC</Source>
+                <Reference>7216</Reference>
+              </ExternalReference>
+              <ExternalReference id="31399">
+                <Source>OMIM</Source>
+                <Reference>154550</Reference>
+              </ExternalReference>
+              <ExternalReference id="59367">
+                <Source>Reactome</Source>
+                <Reference>P34949</Reference>
+              </ExternalReference>
+              <ExternalReference id="33524">
+                <Source>SwissProt</Source>
+                <Reference>P34949</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9303">
+                <GeneLocus>15q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11344">
+      <OrphaCode>79318</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79318</ExpertLink>
+      <Name lang="en">PMM2-CDG</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301289[PMID]_20301507[PMID]</SourceOfValidation>
+          <Gene id="15113">
+            <Name lang="en">phosphomannomutase 2</Name>
+            <Symbol>PMM2</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">'Congenital disorder of glycosylation, type Ia'</Synonym>
+              <Synonym lang="en">CDG1a</Synonym>
+              <Synonym lang="en">CDGS</Synonym>
+              <Synonym lang="en">PMI</Synonym>
+              <Synonym lang="en">PMI1</Synonym>
+              <Synonym lang="en">mannose-6-phosphate isomerase</Synonym>
+              <Synonym lang="en">phosphomannose isomerase 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59364">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140650</Reference>
+              </ExternalReference>
+              <ExternalReference id="24972">
+                <Source>Genatlas</Source>
+                <Reference>PMM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="24970">
+                <Source>HGNC</Source>
+                <Reference>9115</Reference>
+              </ExternalReference>
+              <ExternalReference id="24969">
+                <Source>OMIM</Source>
+                <Reference>601785</Reference>
+              </ExternalReference>
+              <ExternalReference id="59365">
+                <Source>Reactome</Source>
+                <Reference>O15305</Reference>
+              </ExternalReference>
+              <ExternalReference id="32804">
+                <Source>SwissProt</Source>
+                <Reference>O15305</Reference>
+              </ExternalReference>
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+                <GeneLocus>16p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11340">
+      <OrphaCode>79314</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79314</ExpertLink>
+      <Name lang="en">L-2-hydroxyglutaric aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20052767[PMID]</SourceOfValidation>
+          <Gene id="16331">
+            <Name lang="en">L-2-hydroxyglutarate dehydrogenase</Name>
+            <Symbol>L2HGDH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">2-hydroxyglutarate dehydrogenase</Synonym>
+              <Synonym lang="en">FLJ12618</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59358">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087299</Reference>
+              </ExternalReference>
+              <ExternalReference id="30808">
+                <Source>Genatlas</Source>
+                <Reference>L2HGDH</Reference>
+              </ExternalReference>
+              <ExternalReference id="30806">
+                <Source>HGNC</Source>
+                <Reference>20499</Reference>
+              </ExternalReference>
+              <ExternalReference id="30805">
+                <Source>OMIM</Source>
+                <Reference>609584</Reference>
+              </ExternalReference>
+              <ExternalReference id="59359">
+                <Source>Reactome</Source>
+                <Reference>Q9H9P8</Reference>
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+              <ExternalReference id="33396">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9P8</Reference>
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+            <LocusList count="1">
+              <Locus id="25939">
+                <GeneLocus>14q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11341">
+      <OrphaCode>79315</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79315</ExpertLink>
+      <Name lang="en">D-2-hydroxyglutaric aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>20020533[PMID]</SourceOfValidation>
+          <Gene id="15845">
+            <Name lang="en">D-2-hydroxyglutarate dehydrogenase</Name>
+            <Symbol>D2HGDH</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">D2HGD</Synonym>
+              <Synonym lang="en">FLJ42195</Synonym>
+              <Synonym lang="en">MGC25181</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180902</Reference>
+              </ExternalReference>
+              <ExternalReference id="36941">
+                <Source>Genatlas</Source>
+                <Reference>D2HGDH</Reference>
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+              <ExternalReference id="28465">
+                <Source>HGNC</Source>
+                <Reference>28358</Reference>
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+              <ExternalReference id="28464">
+                <Source>OMIM</Source>
+                <Reference>609186</Reference>
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+              <ExternalReference id="59361">
+                <Source>Reactome</Source>
+                <Reference>Q8N465</Reference>
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+              <ExternalReference id="32856">
+                <Source>SwissProt</Source>
+                <Reference>Q8N465</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q37.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20847235[PMID]</SourceOfValidation>
+          <Gene id="19506">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 2</Name>
+            <Symbol>IDH2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182054</Reference>
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+              <ExternalReference id="49956">
+                <Source>Genatlas</Source>
+                <Reference>IDH2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5383</Reference>
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+                <Source>OMIM</Source>
+                <Reference>147650</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P48735</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48735</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2885</Reference>
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+                <GeneLocus>15q26.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79312</ExpertLink>
+      <Name lang="en">Vitamin B12-unresponsive methylmalonic acidemia type mut-</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16489">
+            <Name lang="en">methylmalonyl-CoA mutase</Name>
+            <Symbol>MMUT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MCM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146085</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MUT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7526</Reference>
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+                <Source>OMIM</Source>
+                <Reference>609058</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P22033</Reference>
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+      <Name lang="en">Vitamin B12-responsive methylmalonic acidemia type cblA</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8IVH4</Reference>
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+                <Reference>Q8IVH4</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151611</Reference>
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+                <Reference>MMAA</Reference>
+              </ExternalReference>
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+                <GeneLocus>4q31.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Vitamin B12-responsive methylmalonic acidemia type cblB</Name>
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+      </DisorderType>
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+          <Gene id="16414">
+            <Name lang="en">metabolism of cobalamin associated B</Name>
+            <Symbol>MMAB</Symbol>
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+              <Synonym lang="en">CFAP23</Synonym>
+              <Synonym lang="en">cblB</Synonym>
+              <Synonym lang="en">cilia and flagella associated protein 23</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000139428</Reference>
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+                <Reference>MMAB</Reference>
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+                <Reference>19331</Reference>
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+              <ExternalReference id="82996">
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+                <Reference>Q96EY8</Reference>
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+                <Reference>Q96EY8</Reference>
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+      <Name lang="en">Progressive familial intrahepatic cholestasis type 1</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">myosin VB</Name>
+            <Symbol>MYO5B</Symbol>
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+              <Synonym lang="en">KIAA1119</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ATPase phospholipid transporting 8B1</Name>
+            <Symbol>ATP8B1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59177">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081923</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>O43520</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11649">
+      <OrphaCode>85191</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85191</ExpertLink>
+      <Name lang="en">Singleton-Merten dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25620204[PMID]</SourceOfValidation>
+          <Gene id="22885">
+            <Name lang="en">interferon induced with helicase C domain 1</Name>
+            <Symbol>IFIH1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Hlcd</Synonym>
+              <Synonym lang="en">IDDM19</Synonym>
+              <Synonym lang="en">MDA-5</Synonym>
+              <Synonym lang="en">MDA5</Synonym>
+              <Synonym lang="en">helicard</Synonym>
+              <Synonym lang="en">melanoma differentiation-associated gene 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190591">
+                <Source>IUPHAR</Source>
+                <Reference>2921</Reference>
+              </ExternalReference>
+              <ExternalReference id="91578">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115267</Reference>
+              </ExternalReference>
+              <ExternalReference id="89922">
+                <Source>Genatlas</Source>
+                <Reference>IFIH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="89920">
+                <Source>HGNC</Source>
+                <Reference>18873</Reference>
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+              <ExternalReference id="89921">
+                <Source>OMIM</Source>
+                <Reference>606951</Reference>
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+              <ExternalReference id="91577">
+                <Source>Reactome</Source>
+                <Reference>Q9BYX4</Reference>
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+              <ExternalReference id="89923">
+                <Source>SwissProt</Source>
+                <Reference>Q9BYX4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60591">
+                <GeneLocus>2q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25620203[PMID]</SourceOfValidation>
+          <Gene id="23141">
+            <Name lang="en">RNA sensor RIG-I</Name>
+            <Symbol>RIGI</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DKFZp434J1111</Synonym>
+              <Synonym lang="en">FLJ13599</Synonym>
+              <Synonym lang="en">RIG-1</Synonym>
+              <Synonym lang="en">RIG-I</Synonym>
+              <Synonym lang="en">RIG1</Synonym>
+              <Synonym lang="en">RNA helicase RIG-I</Synonym>
+              <Synonym lang="en">retinoic acid inducible gene I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95301">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107201</Reference>
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+              <ExternalReference id="95299">
+                <Source>Genatlas</Source>
+                <Reference>DDX58</Reference>
+              </ExternalReference>
+              <ExternalReference id="95297">
+                <Source>HGNC</Source>
+                <Reference>19102</Reference>
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+              <ExternalReference id="95298">
+                <Source>OMIM</Source>
+                <Reference>609631</Reference>
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+              <ExternalReference id="97144">
+                <Source>Reactome</Source>
+                <Reference>O95786</Reference>
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+              <ExternalReference id="95300">
+                <Source>SwissProt</Source>
+                <Reference>O95786</Reference>
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+              <ExternalReference id="190621">
+                <Source>IUPHAR</Source>
+                <Reference>2920</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11651">
+      <OrphaCode>85193</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85193</ExpertLink>
+      <Name lang="en">Idiopathic juvenile osteoporosis</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22789636[PMID]</SourceOfValidation>
+          <Gene id="21408">
+            <Name lang="en">Wnt family member 3A</Name>
+            <Symbol>WNT3A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83467">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154342</Reference>
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+              <ExternalReference id="70800">
+                <Source>Genatlas</Source>
+                <Reference>WNT3A</Reference>
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+              <ExternalReference id="70798">
+                <Source>HGNC</Source>
+                <Reference>15983</Reference>
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+              <ExternalReference id="70799">
+                <Source>OMIM</Source>
+                <Reference>606359</Reference>
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+              <ExternalReference id="83466">
+                <Source>Reactome</Source>
+                <Reference>P56704</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P56704</Reference>
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+                <GeneLocus>1q42.13</GeneLocus>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22789636[PMID]</SourceOfValidation>
+          <Gene id="21409">
+            <Name lang="en">dickkopf WNT signaling pathway inhibitor 1</Name>
+            <Symbol>DKK1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKK-1</Synonym>
+              <Synonym lang="en">SK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107984</Reference>
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+              <ExternalReference id="70804">
+                <Source>Genatlas</Source>
+                <Reference>DKK1</Reference>
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+              <ExternalReference id="70802">
+                <Source>HGNC</Source>
+                <Reference>2891</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605189</Reference>
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+              <ExternalReference id="88002">
+                <Source>Reactome</Source>
+                <Reference>O94907</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O94907</Reference>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23499309[PMID]</SourceOfValidation>
+          <Gene id="22024">
+            <Name lang="en">Wnt family member 1</Name>
+            <Symbol>WNT1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83772">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125084</Reference>
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+              <ExternalReference id="78696">
+                <Source>Genatlas</Source>
+                <Reference>WNT1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12774</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164820</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P04628</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+      <Name lang="en">Familial expansile osteolysis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">TNF receptor superfamily member 11a</Name>
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+              <Synonym lang="en">CD265</Synonym>
+              <Synonym lang="en">FEO</Synonym>
+              <Synonym lang="en">ODFR</Synonym>
+              <Synonym lang="en">RANK</Synonym>
+              <Synonym lang="en">TRANCE receptor</Synonym>
+              <Synonym lang="en">TRANCE-R</Synonym>
+              <Synonym lang="en">familial expansile osteolysis</Synonym>
+              <Synonym lang="en">osteoclast differentiation factor receptor</Synonym>
+              <Synonym lang="en">receptor activator of nuclear factor kappa B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141655</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>11908</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6Q6</Reference>
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+                <Reference>Q9Y6Q6</Reference>
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+      <Name lang="en">Spondylo-ocular syndrome</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Dysspondyloenchondromatosis</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156650</Reference>
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+      <Name lang="en">Ischiovertebral syndrome</Name>
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+            <Symbol>BMPER</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164619</Reference>
+              </ExternalReference>
+              <ExternalReference id="49332">
+                <Source>Genatlas</Source>
+                <Reference>BMPER</Reference>
+              </ExternalReference>
+              <ExternalReference id="49333">
+                <Source>HGNC</Source>
+                <Reference>24154</Reference>
+              </ExternalReference>
+              <ExternalReference id="49334">
+                <Source>OMIM</Source>
+                <Reference>608699</Reference>
+              </ExternalReference>
+              <ExternalReference id="49335">
+                <Source>SwissProt</Source>
+                <Reference>Q8N8U9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11257">
+                <GeneLocus>7p14.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11660">
+      <OrphaCode>85202</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85202</ExpertLink>
+      <Name lang="en">Keutel syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9916809[PMID]_15810001[PMID]</SourceOfValidation>
+          <Gene id="16397">
+            <Name lang="en">matrix Gla protein</Name>
+            <Symbol>MGP</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59450">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111341</Reference>
+              </ExternalReference>
+              <ExternalReference id="31118">
+                <Source>Genatlas</Source>
+                <Reference>MGP</Reference>
+              </ExternalReference>
+              <ExternalReference id="31120">
+                <Source>HGNC</Source>
+                <Reference>7060</Reference>
+              </ExternalReference>
+              <ExternalReference id="31119">
+                <Source>OMIM</Source>
+                <Reference>154870</Reference>
+              </ExternalReference>
+              <ExternalReference id="33461">
+                <Source>SwissProt</Source>
+                <Reference>P08493</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9201">
+                <GeneLocus>12p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11662">
+      <OrphaCode>85212</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85212</ExpertLink>
+      <Name lang="en">Fetal Gaucher disease</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20946052[PMID]_20301446[PMID]</SourceOfValidation>
+          <Gene id="16106">
+            <Name lang="en">glucosylceramidase beta 1</Name>
+            <Symbol>GBA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GBA1</Synonym>
+              <Synonym lang="en">glucocerebrosidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58133">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177628</Reference>
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+              <ExternalReference id="29734">
+                <Source>Genatlas</Source>
+                <Reference>GBA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29736">
+                <Source>HGNC</Source>
+                <Reference>4177</Reference>
+              </ExternalReference>
+              <ExternalReference id="29735">
+                <Source>OMIM</Source>
+                <Reference>606463</Reference>
+              </ExternalReference>
+              <ExternalReference id="58134">
+                <Source>Reactome</Source>
+                <Reference>P04062</Reference>
+              </ExternalReference>
+              <ExternalReference id="33121">
+                <Source>SwissProt</Source>
+                <Reference>P04062</Reference>
+              </ExternalReference>
+              <ExternalReference id="193607">
+                <Source>IUPHAR</Source>
+                <Reference>2978</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66623">
+                <GeneLocus>1q22</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11667">
+      <OrphaCode>85277</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85277</ExpertLink>
+      <Name lang="en">X-linked intellectual disability, Cantagrel type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23615299[PMID]</SourceOfValidation>
+          <Gene id="16303">
+            <Name lang="en">neurite extension and migration factor</Name>
+            <Symbol>NEXMIF</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIDLIA</Synonym>
+              <Synonym lang="en">MRX98</Synonym>
+              <Synonym lang="en">XLMR-related protein, neurite extension</Synonym>
+              <Synonym lang="en">XPN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59451">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000050030</Reference>
+              </ExternalReference>
+              <ExternalReference id="37501">
+                <Source>Genatlas</Source>
+                <Reference>KIAA2022</Reference>
+              </ExternalReference>
+              <ExternalReference id="30677">
+                <Source>HGNC</Source>
+                <Reference>29433</Reference>
+              </ExternalReference>
+              <ExternalReference id="30676">
+                <Source>OMIM</Source>
+                <Reference>300524</Reference>
+              </ExternalReference>
+              <ExternalReference id="33368">
+                <Source>SwissProt</Source>
+                <Reference>Q5QGS0</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq13.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11668">
+      <OrphaCode>85278</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85278</ExpertLink>
+      <Name lang="en">Christianson syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18342287[PMID]</SourceOfValidation>
+          <Gene id="17207">
+            <Name lang="en">solute carrier family 9 member A6</Name>
+            <Symbol>SLC9A6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0267</Synonym>
+              <Synonym lang="en">NHE6</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59452">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198689</Reference>
+              </ExternalReference>
+              <ExternalReference id="36314">
+                <Source>Genatlas</Source>
+                <Reference>SLC9A6</Reference>
+              </ExternalReference>
+              <ExternalReference id="36315">
+                <Source>HGNC</Source>
+                <Reference>11079</Reference>
+              </ExternalReference>
+              <ExternalReference id="36316">
+                <Source>OMIM</Source>
+                <Reference>300231</Reference>
+              </ExternalReference>
+              <ExternalReference id="59453">
+                <Source>Reactome</Source>
+                <Reference>Q92581</Reference>
+              </ExternalReference>
+              <ExternalReference id="36317">
+                <Source>SwissProt</Source>
+                <Reference>Q92581</Reference>
+              </ExternalReference>
+              <ExternalReference id="190432">
+                <Source>IUPHAR</Source>
+                <Reference>953</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="60273">
+                <GeneLocus>Xq26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11669">
+      <OrphaCode>85279</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85279</ExpertLink>
+      <Name lang="en">KDM5C-related syndromic X-linked intellectual disability</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15586325[PMID]</SourceOfValidation>
+          <Gene id="16281">
+            <Name lang="en">lysine demethylase 5C</Name>
+            <Symbol>KDM5C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DXS1272E</Synonym>
+              <Synonym lang="en">XE169</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126012</Reference>
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+              <ExternalReference id="99983">
+                <Source>Genatlas</Source>
+                <Reference>KDM5C</Reference>
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+              <ExternalReference id="30570">
+                <Source>HGNC</Source>
+                <Reference>11114</Reference>
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+              <ExternalReference id="89568">
+                <Source>IUPHAR</Source>
+                <Reference>2682</Reference>
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+              <ExternalReference id="30569">
+                <Source>OMIM</Source>
+                <Reference>314690</Reference>
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+              <ExternalReference id="91588">
+                <Source>Reactome</Source>
+                <Reference>P41229</Reference>
+              </ExternalReference>
+              <ExternalReference id="33346">
+                <Source>SwissProt</Source>
+                <Reference>P41229</Reference>
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+                <GeneLocus>Xp11.22</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>85282</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85282</ExpertLink>
+      <Name lang="en">MEHMO syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28055140[PMID]</SourceOfValidation>
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+            <Name lang="en">eukaryotic translation initiation factor 2 subunit gamma</Name>
+            <Symbol>EIF2S3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EIF2</Synonym>
+              <Synonym lang="en">EIF2gamma</Synonym>
+              <Synonym lang="en">eukaryotic translation initiation factor 2G</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="134280">
+                <Source>Reactome</Source>
+                <Reference>P41091</Reference>
+              </ExternalReference>
+              <ExternalReference id="132779">
+                <Source>SwissProt</Source>
+                <Reference>P41091</Reference>
+              </ExternalReference>
+              <ExternalReference id="132063">
+                <Source>OMIM</Source>
+                <Reference>300161</Reference>
+              </ExternalReference>
+              <ExternalReference id="133719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130741</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3267</Reference>
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+              <ExternalReference id="144239">
+                <Source>Genatlas</Source>
+                <Reference>EIF2S3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11674">
+      <OrphaCode>85284</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85284</ExpertLink>
+      <Name lang="en">BRESEK syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+          <SourceOfValidation>22105905[PMID]</SourceOfValidation>
+          <Gene id="18365">
+            <Name lang="en">membrane bound transcription factor peptidase, site 2</Name>
+            <Symbol>MBTPS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">S2P</Synonym>
+              <Synonym lang="en">site-2 protease</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000012174</Reference>
+              </ExternalReference>
+              <ExternalReference id="41779">
+                <Source>Genatlas</Source>
+                <Reference>MBTPS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="41780">
+                <Source>HGNC</Source>
+                <Reference>15455</Reference>
+              </ExternalReference>
+              <ExternalReference id="41781">
+                <Source>OMIM</Source>
+                <Reference>300294</Reference>
+              </ExternalReference>
+              <ExternalReference id="58173">
+                <Source>Reactome</Source>
+                <Reference>O43462</Reference>
+              </ExternalReference>
+              <ExternalReference id="43768">
+                <Source>SwissProt</Source>
+                <Reference>O43462</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xp22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11677">
+      <OrphaCode>85287</OrphaCode>
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+      <Name lang="en">X-linked intellectual disability, Siderius type</Name>
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+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17661819[PMID]</SourceOfValidation>
+          <Gene id="16818">
+            <Name lang="en">PHD finger protein 8</Name>
+            <Symbol>PHF8</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">JHDM1F</Synonym>
+              <Synonym lang="en">KDM7B</Synonym>
+              <Synonym lang="en">KIAA1111</Synonym>
+              <Synonym lang="en">ZNF422</Synonym>
+              <Synonym lang="en">histone lysine demethylase PHF8</Synonym>
+              <Synonym lang="en">jumonji C domain-containing histone demethylase 1F</Synonym>
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59455">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172943</Reference>
+              </ExternalReference>
+              <ExternalReference id="35092">
+                <Source>Genatlas</Source>
+                <Reference>PHF8</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>20672</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2698</Reference>
+              </ExternalReference>
+              <ExternalReference id="35094">
+                <Source>OMIM</Source>
+                <Reference>300560</Reference>
+              </ExternalReference>
+              <ExternalReference id="84572">
+                <Source>Reactome</Source>
+                <Reference>Q9UPP1</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPP1</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xp11.22</GeneLocus>
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+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11678">
+      <OrphaCode>85288</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85288</ExpertLink>
+      <Name lang="en">X-linked intellectual disability, Stocco Dos Santos type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16249884[PMID]</SourceOfValidation>
+          <Gene id="15292">
+            <Name lang="en">shroom family member 4</Name>
+            <Symbol>SHROOM4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1202</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158352</Reference>
+              </ExternalReference>
+              <ExternalReference id="25821">
+                <Source>Genatlas</Source>
+                <Reference>SHROOM4</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>29215</Reference>
+              </ExternalReference>
+              <ExternalReference id="25818">
+                <Source>OMIM</Source>
+                <Reference>300579</Reference>
+              </ExternalReference>
+              <ExternalReference id="33850">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULL8</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xp11.22</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11683">
+      <OrphaCode>85293</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85293</ExpertLink>
+      <Name lang="en">X-linked intellectual disability, Cabezas type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17236139[PMID]_2000245[PMID]</SourceOfValidation>
+          <Gene id="15825">
+            <Name lang="en">cullin 4B</Name>
+            <Symbol>CUL4B</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59457">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158290</Reference>
+              </ExternalReference>
+              <ExternalReference id="36925">
+                <Source>Genatlas</Source>
+                <Reference>CUL4B</Reference>
+              </ExternalReference>
+              <ExternalReference id="28367">
+                <Source>HGNC</Source>
+                <Reference>2555</Reference>
+              </ExternalReference>
+              <ExternalReference id="28366">
+                <Source>OMIM</Source>
+                <Reference>300304</Reference>
+              </ExternalReference>
+              <ExternalReference id="97201">
+                <Source>Reactome</Source>
+                <Reference>Q13620</Reference>
+              </ExternalReference>
+              <ExternalReference id="32836">
+                <Source>SwissProt</Source>
+                <Reference>Q13620</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21355">
+                <GeneLocus>Xq24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11685">
+      <OrphaCode>85295</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85295</ExpertLink>
+      <Name lang="en">HSD10 disease, atypical type</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22127393[PMID]</SourceOfValidation>
+          <Gene id="16223">
+            <Name lang="en">hydroxysteroid 17-beta dehydrogenase 10</Name>
+            <Symbol>HSD17B10</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">17b-HSD10</Synonym>
+              <Synonym lang="en">AB-binding alcohol dehydrogenase</Synonym>
+              <Synonym lang="en">ABAD</Synonym>
+              <Synonym lang="en">CAMR</Synonym>
+              <Synonym lang="en">ERAB</Synonym>
+              <Synonym lang="en">MHBD</Synonym>
+              <Synonym lang="en">MRPP2</Synonym>
+              <Synonym lang="en">SDR5C1</Synonym>
+              <Synonym lang="en">mitochondrial RNase P subunit 2</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 5C, member 1</Synonym>
+              <Synonym lang="en">type 10 17b-HSD</Synonym>
+              <Synonym lang="en">type 10 17beta-hydroxysteroid dehydrogenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072506</Reference>
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+              <ExternalReference id="37119">
+                <Source>Genatlas</Source>
+                <Reference>HSD17B10</Reference>
+              </ExternalReference>
+              <ExternalReference id="30299">
+                <Source>HGNC</Source>
+                <Reference>4800</Reference>
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+              <ExternalReference id="30298">
+                <Source>OMIM</Source>
+                <Reference>300256</Reference>
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+              <ExternalReference id="59013">
+                <Source>Reactome</Source>
+                <Reference>Q99714</Reference>
+              </ExternalReference>
+              <ExternalReference id="33287">
+                <Source>SwissProt</Source>
+                <Reference>Q99714</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.22</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="11684">
+      <OrphaCode>85294</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85294</ExpertLink>
+      <Name lang="en">X-linked epilepsy-learning disabilities-behavior disorders syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14985377[PMID]</SourceOfValidation>
+          <Gene id="15573">
+            <Name lang="en">synapsin I</Name>
+            <Symbol>SYN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Synapsin-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59458">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008056</Reference>
+              </ExternalReference>
+              <ExternalReference id="27175">
+                <Source>Genatlas</Source>
+                <Reference>SYN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27177">
+                <Source>HGNC</Source>
+                <Reference>11494</Reference>
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+              <ExternalReference id="27176">
+                <Source>OMIM</Source>
+                <Reference>313440</Reference>
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+              <ExternalReference id="59459">
+                <Source>Reactome</Source>
+                <Reference>P17600</Reference>
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+              <ExternalReference id="32544">
+                <Source>SwissProt</Source>
+                <Reference>P17600</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xp11.3-p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11699">
+      <OrphaCode>85329</OrphaCode>
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+      <Name lang="en">X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17186471[PMID]_12599187[PMID]</SourceOfValidation>
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+            <Name lang="en">adaptor related protein complex 1 subunit sigma 2</Name>
+            <Symbol>AP1S2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SIGMA1B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59462">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182287</Reference>
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+              <ExternalReference id="34873">
+                <Source>Genatlas</Source>
+                <Reference>AP1S2</Reference>
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+              <ExternalReference id="34870">
+                <Source>HGNC</Source>
+                <Reference>560</Reference>
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+              <ExternalReference id="34872">
+                <Source>OMIM</Source>
+                <Reference>300629</Reference>
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+              <ExternalReference id="59463">
+                <Source>Reactome</Source>
+                <Reference>P56377</Reference>
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+              <ExternalReference id="34871">
+                <Source>SwissProt</Source>
+                <Reference>P56377</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Fried syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>560</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Oligoarticular juvenile idiopathic arthritis</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q9Y2R2</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14765</Reference>
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+            <Name lang="en">interleukin 2 receptor subunit alpha</Name>
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+                <Reference>9650</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23603761[PMID]</SourceOfValidation>
+          <Gene id="22168">
+            <Name lang="en">ankyrin repeat domain 55</Name>
+            <Symbol>ANKRD55</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ11795</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143469">
+                <Source>Reactome</Source>
+                <Reference>Q3KP44</Reference>
+              </ExternalReference>
+              <ExternalReference id="83856">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164512</Reference>
+              </ExternalReference>
+              <ExternalReference id="79746">
+                <Source>Genatlas</Source>
+                <Reference>ANKRD55</Reference>
+              </ExternalReference>
+              <ExternalReference id="79744">
+                <Source>HGNC</Source>
+                <Reference>25681</Reference>
+              </ExternalReference>
+              <ExternalReference id="79745">
+                <Source>OMIM</Source>
+                <Reference>615189</Reference>
+              </ExternalReference>
+              <ExternalReference id="79747">
+                <Source>SwissProt</Source>
+                <Reference>Q3KP44</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38643">
+                <GeneLocus>5q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23603761[PMID]</SourceOfValidation>
+          <Gene id="22169">
+            <Name lang="en">interleukin 2 receptor subunit beta</Name>
+            <Symbol>IL2RB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD122</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190523">
+                <Source>IUPHAR</Source>
+                <Reference>1696</Reference>
+              </ExternalReference>
+              <ExternalReference id="83858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100385</Reference>
+              </ExternalReference>
+              <ExternalReference id="79755">
+                <Source>Genatlas</Source>
+                <Reference>IL2RB</Reference>
+              </ExternalReference>
+              <ExternalReference id="79753">
+                <Source>HGNC</Source>
+                <Reference>6009</Reference>
+              </ExternalReference>
+              <ExternalReference id="79754">
+                <Source>OMIM</Source>
+                <Reference>146710</Reference>
+              </ExternalReference>
+              <ExternalReference id="83857">
+                <Source>Reactome</Source>
+                <Reference>P14784</Reference>
+              </ExternalReference>
+              <ExternalReference id="79756">
+                <Source>SwissProt</Source>
+                <Reference>P14784</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60455">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11711">
+      <OrphaCode>85414</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85414</ExpertLink>
+      <Name lang="en">Systemic-onset juvenile idiopathic arthritis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26598658[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
+              </ExternalReference>
+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
+              </ExternalReference>
+              <ExternalReference id="30195">
+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
+              </ExternalReference>
+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
+              </ExternalReference>
+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58635">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16399">
+            <Name lang="en">macrophage migration inhibitory factor</Name>
+            <Symbol>MIF</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GIF</Synonym>
+              <Synonym lang="en">glycosylation-inhibiting factor</Synonym>
+              <Synonym lang="en">phenylpyruvate tautomerase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="33463">
+                <Source>SwissProt</Source>
+                <Reference>P14174</Reference>
+              </ExternalReference>
+              <ExternalReference id="59464">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000240972</Reference>
+              </ExternalReference>
+              <ExternalReference id="37516">
+                <Source>Genatlas</Source>
+                <Reference>MIF</Reference>
+              </ExternalReference>
+              <ExternalReference id="31129">
+                <Source>HGNC</Source>
+                <Reference>7097</Reference>
+              </ExternalReference>
+              <ExternalReference id="31128">
+                <Source>OMIM</Source>
+                <Reference>153620</Reference>
+              </ExternalReference>
+              <ExternalReference id="98066">
+                <Source>Reactome</Source>
+                <Reference>P14174</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="17743">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16791">
+            <Name lang="en">interleukin 6</Name>
+            <Symbol>IL6</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BSF2</Synonym>
+              <Synonym lang="en">HGF</Synonym>
+              <Synonym lang="en">HSF</Synonym>
+              <Synonym lang="en">IL-6</Synonym>
+              <Synonym lang="en">interferon, beta 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56689">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136244</Reference>
+              </ExternalReference>
+              <ExternalReference id="34955">
+                <Source>Genatlas</Source>
+                <Reference>IL6</Reference>
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+              <ExternalReference id="34952">
+                <Source>HGNC</Source>
+                <Reference>6018</Reference>
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+              <ExternalReference id="34954">
+                <Source>OMIM</Source>
+                <Reference>147620</Reference>
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+              <ExternalReference id="56690">
+                <Source>Reactome</Source>
+                <Reference>P05231</Reference>
+              </ExternalReference>
+              <ExternalReference id="34953">
+                <Source>SwissProt</Source>
+                <Reference>P05231</Reference>
+              </ExternalReference>
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+                <GeneLocus>7p15.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25220867[PMID]</SourceOfValidation>
+          <Gene id="23651">
+            <Name lang="en">laccase domain containing 1</Name>
+            <Symbol>LACC1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAMIN</Synonym>
+              <Synonym lang="en">FLJ38725</Synonym>
+              <Synonym lang="en">fatty acid metabolism–immunity nexus</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="100077">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179630</Reference>
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+              <ExternalReference id="100075">
+                <Source>Genatlas</Source>
+                <Reference>C13orf31</Reference>
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+              <ExternalReference id="100073">
+                <Source>HGNC</Source>
+                <Reference>26789</Reference>
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+              <ExternalReference id="100074">
+                <Source>OMIM</Source>
+                <Reference>613409</Reference>
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+              <ExternalReference id="100076">
+                <Source>SwissProt</Source>
+                <Reference>Q8IV20</Reference>
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+            <LocusList count="1">
+              <Locus id="19041">
+                <GeneLocus>13q14.11</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11709">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85408</ExpertLink>
+      <Name lang="en">Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23603761[PMID]</SourceOfValidation>
+          <Gene id="21583">
+            <Name lang="en">protein tyrosine phosphatase non-receptor type 22</Name>
+            <Symbol>PTPN22</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Lyp</Synonym>
+              <Synonym lang="en">Lyp1</Synonym>
+              <Synonym lang="en">Lyp2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="83548">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134242</Reference>
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+              <ExternalReference id="74769">
+                <Source>Genatlas</Source>
+                <Reference>PTPN22</Reference>
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+              <ExternalReference id="74767">
+                <Source>HGNC</Source>
+                <Reference>9652</Reference>
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+              <ExternalReference id="74768">
+                <Source>OMIM</Source>
+                <Reference>600716</Reference>
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+              <ExternalReference id="74770">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2R2</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2R2</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23603761[PMID]</SourceOfValidation>
+          <Gene id="21733">
+            <Name lang="en">signal transducer and activator of transcription 4</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83613">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138378</Reference>
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+              <ExternalReference id="76101">
+                <Source>Genatlas</Source>
+                <Reference>STAT4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11365</Reference>
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+              <ExternalReference id="76100">
+                <Source>OMIM</Source>
+                <Reference>600558</Reference>
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+              <ExternalReference id="76102">
+                <Source>SwissProt</Source>
+                <Reference>Q14765</Reference>
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+              <ExternalReference id="143058">
+                <Source>Reactome</Source>
+                <Reference>Q14765</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22294642[PMID]</SourceOfValidation>
+          <Gene id="17467">
+            <Name lang="en">interleukin 2 receptor subunit alpha</Name>
+            <Symbol>IL2RA</Symbol>
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+              <Synonym lang="en">CD25</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134460</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6008</Reference>
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+              <ExternalReference id="38212">
+                <Source>OMIM</Source>
+                <Reference>147730</Reference>
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+              <ExternalReference id="60173">
+                <Source>Reactome</Source>
+                <Reference>P01589</Reference>
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+              <ExternalReference id="38215">
+                <Source>SwissProt</Source>
+                <Reference>P01589</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1695</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">CD247 molecule</Name>
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+            <SynonymList count="3">
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+              <Synonym lang="en">CD3Q</Synonym>
+              <Synonym lang="en">T-cell surface glycoprotein CD3 zeta chain</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Reference>3142</Reference>
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+              <ExternalReference id="60207">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198821</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1677</Reference>
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+                <Source>OMIM</Source>
+                <Reference>186780</Reference>
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+              <ExternalReference id="60208">
+                <Source>Reactome</Source>
+                <Reference>P20963</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P20963</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="21211">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000175354</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9650</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176887</Reference>
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+              <ExternalReference id="83456">
+                <Source>Reactome</Source>
+                <Reference>P17706</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P17706</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143469">
+                <Source>Reactome</Source>
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+              <ExternalReference id="83856">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164512</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ANKRD55</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25681</Reference>
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+              <ExternalReference id="79745">
+                <Source>OMIM</Source>
+                <Reference>615189</Reference>
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+              <ExternalReference id="79747">
+                <Source>SwissProt</Source>
+                <Reference>Q3KP44</Reference>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23603761[PMID]</SourceOfValidation>
+          <Gene id="22169">
+            <Name lang="en">interleukin 2 receptor subunit beta</Name>
+            <Symbol>IL2RB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CD122</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190523">
+                <Source>IUPHAR</Source>
+                <Reference>1696</Reference>
+              </ExternalReference>
+              <ExternalReference id="83858">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100385</Reference>
+              </ExternalReference>
+              <ExternalReference id="79755">
+                <Source>Genatlas</Source>
+                <Reference>IL2RB</Reference>
+              </ExternalReference>
+              <ExternalReference id="79753">
+                <Source>HGNC</Source>
+                <Reference>6009</Reference>
+              </ExternalReference>
+              <ExternalReference id="79754">
+                <Source>OMIM</Source>
+                <Reference>146710</Reference>
+              </ExternalReference>
+              <ExternalReference id="83857">
+                <Source>Reactome</Source>
+                <Reference>P14784</Reference>
+              </ExternalReference>
+              <ExternalReference id="79756">
+                <Source>SwissProt</Source>
+                <Reference>P14784</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60455">
+                <GeneLocus>22q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11716">
+      <OrphaCode>85442</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85442</ExpertLink>
+      <Name lang="en">Short stature-pituitary and cerebellar defects-small sella turcica syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11567216[PMID]</SourceOfValidation>
+          <Gene id="16786">
+            <Name lang="en">LIM homeobox 4</Name>
+            <Symbol>LHX4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Gsh4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143913">
+                <Source>Reactome</Source>
+                <Reference>Q969G2</Reference>
+              </ExternalReference>
+              <ExternalReference id="59465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121454</Reference>
+              </ExternalReference>
+              <ExternalReference id="34929">
+                <Source>Genatlas</Source>
+                <Reference>LHX4</Reference>
+              </ExternalReference>
+              <ExternalReference id="34928">
+                <Source>HGNC</Source>
+                <Reference>21734</Reference>
+              </ExternalReference>
+              <ExternalReference id="34930">
+                <Source>OMIM</Source>
+                <Reference>602146</Reference>
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+              <ExternalReference id="34931">
+                <Source>SwissProt</Source>
+                <Reference>Q969G2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39291">
+                <GeneLocus>1q25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11718">
+      <OrphaCode>85445</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85445</ExpertLink>
+      <Name lang="en">AA amyloidosis</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>16118480[PMID]_16874691[PMID]_16219644[PMID]_18369528[PMID]</SourceOfValidation>
+          <Gene id="21972">
+            <Name lang="en">serum amyloid A1</Name>
+            <Symbol>SAA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PIG4</Synonym>
+              <Synonym lang="en">TP53I4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173432</Reference>
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+              <ExternalReference id="78147">
+                <Source>Genatlas</Source>
+                <Reference>SAA1</Reference>
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+              <ExternalReference id="78145">
+                <Source>HGNC</Source>
+                <Reference>10513</Reference>
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+              <ExternalReference id="78146">
+                <Source>OMIM</Source>
+                <Reference>104750</Reference>
+              </ExternalReference>
+              <ExternalReference id="83718">
+                <Source>Reactome</Source>
+                <Reference>P0DJI8</Reference>
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+              <ExternalReference id="78148">
+                <Source>SwissProt</Source>
+                <Reference>P0DJI8</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>11p15.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11724">
+      <OrphaCode>85453</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85453</ExpertLink>
+      <Name lang="en">X-linked reticulate pigmentary disorder</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>27019227[PMID]</SourceOfValidation>
+          <Gene id="23828">
+            <Name lang="en">DNA polymerase alpha 1, catalytic subunit</Name>
+            <Symbol>POLA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">p180</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="103561">
+                <Source>HGNC</Source>
+                <Reference>9173</Reference>
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+              <ExternalReference id="103562">
+                <Source>OMIM</Source>
+                <Reference>312040</Reference>
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+              <ExternalReference id="103563">
+                <Source>Genatlas</Source>
+                <Reference>POLA1</Reference>
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+              <ExternalReference id="103564">
+                <Source>SwissProt</Source>
+                <Reference>P09884</Reference>
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+              <ExternalReference id="103565">
+                <Source>Reactome</Source>
+                <Reference>P09884</Reference>
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+              <ExternalReference id="103566">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101868</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11727">
+      <OrphaCode>86788</OrphaCode>
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+      <Name lang="en">X-linked severe congenital neutropenia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11242115[PMID]</SourceOfValidation>
+          <Gene id="15715">
+            <Name lang="en">WASP actin nucleation promoting factor</Name>
+            <Symbol>WAS</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">WASPA</Synonym>
+              <Synonym lang="en">eczema-thrombocytopenia</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56864">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000015285</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12731</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="56865">
+                <Source>Reactome</Source>
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+              <ExternalReference id="32687">
+                <Source>SwissProt</Source>
+                <Reference>P42768</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11726">
+      <OrphaCode>86309</OrphaCode>
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+      <Name lang="en">DPAGT1-CDG</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15885">
+            <Name lang="en">dolichyl-phosphate N-acetylglucosaminephosphotransferase 1</Name>
+            <Symbol>DPAGT1</Symbol>
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+              <Synonym lang="en">CDG-Ij</Synonym>
+              <Synonym lang="en">D11S366</Synonym>
+              <Synonym lang="en">DGPT</Synonym>
+              <Synonym lang="en">GPT</Synonym>
+              <Synonym lang="en">GlcNAc-1-P transferase 1</Synonym>
+              <Synonym lang="en">UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="28648">
+                <Source>Genatlas</Source>
+                <Reference>DPAGT1</Reference>
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+              <ExternalReference id="59475">
+                <Source>Reactome</Source>
+                <Reference>Q9H3H5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9H3H5</Reference>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">AGel amyloidosis</Name>
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+            <Name lang="en">gelsolin</Name>
+            <Symbol>GSN</Symbol>
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+              <Synonym lang="en">DKFZp313L0718</Synonym>
+              <Synonym lang="en">amyloidosis, Finnish type</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>GSN</Reference>
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+                <Reference>4620</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118271</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">ATTRV122I amyloidosis</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118271</Reference>
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+                <Source>Reactome</Source>
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+      <OrphaCode>86812</OrphaCode>
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+      <Name lang="en">POMT1-related limb-girdle muscular dystrophy R11</Name>
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+          <SourceOfValidation>20301582[PMID]</SourceOfValidation>
+          <Gene id="15122">
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+            <Symbol>POMT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LGMD2K</Synonym>
+              <Synonym lang="en">dolichyl-phosphate-mannose-protein mannosyltransferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100285">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58896">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130714</Reference>
+              </ExternalReference>
+              <ExternalReference id="25018">
+                <Source>Genatlas</Source>
+                <Reference>POMT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25016">
+                <Source>HGNC</Source>
+                <Reference>9202</Reference>
+              </ExternalReference>
+              <ExternalReference id="25015">
+                <Source>OMIM</Source>
+                <Reference>607423</Reference>
+              </ExternalReference>
+              <ExternalReference id="33233">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6A1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25667">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11733">
+      <OrphaCode>86813</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=86813</ExpertLink>
+      <Name lang="en">Helicoid peripapillary chorioretinal degeneration</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15016762[PMID]</SourceOfValidation>
+          <Gene id="15597">
+            <Name lang="en">TEA domain transcription factor 1</Name>
+            <Symbol>TEAD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEF-1</Synonym>
+              <Synonym lang="en">transcriptional enhancer factor 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59476">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187079</Reference>
+              </ExternalReference>
+              <ExternalReference id="27291">
+                <Source>Genatlas</Source>
+                <Reference>TEAD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27293">
+                <Source>HGNC</Source>
+                <Reference>11714</Reference>
+              </ExternalReference>
+              <ExternalReference id="27292">
+                <Source>OMIM</Source>
+                <Reference>189967</Reference>
+              </ExternalReference>
+              <ExternalReference id="59477">
+                <Source>Reactome</Source>
+                <Reference>P28347</Reference>
+              </ExternalReference>
+              <ExternalReference id="32568">
+                <Source>SwissProt</Source>
+                <Reference>P28347</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18597">
+                <GeneLocus>11p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11734">
+      <OrphaCode>86814</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=86814</ExpertLink>
+      <Name lang="en">Benign adult familial myoclonic epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29939203[PMID]</SourceOfValidation>
+          <Gene id="27335">
+            <Name lang="en">sterile alpha motif domain containing 12</Name>
+            <Symbol>SAMD12</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FLJ39458</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="159255">
+                <Source>HGNC</Source>
+                <Reference>31750</Reference>
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+              <ExternalReference id="159256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177570</Reference>
+              </ExternalReference>
+              <ExternalReference id="159257">
+                <Source>SwissProt</Source>
+                <Reference>Q8N8I0</Reference>
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+              <ExternalReference id="159258">
+                <Source>OMIM</Source>
+                <Reference>618073</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="58473">
+                <GeneLocus>8q24.11-q24.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31539032[PMID]</SourceOfValidation>
+          <Gene id="28633">
+            <Name lang="en">YEATS domain containing 2</Name>
+            <Symbol>YEATS2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ10201</Synonym>
+              <Synonym lang="en">FLJ12841</Synonym>
+              <Synonym lang="en">FLJ13308</Synonym>
+              <Synonym lang="en">KIAA1197</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="178939">
+                <Source>HGNC</Source>
+                <Reference>25489</Reference>
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+              <ExternalReference id="178940">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163872</Reference>
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+              <ExternalReference id="178941">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULM3</Reference>
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+              <ExternalReference id="178942">
+                <Source>Reactome</Source>
+                <Reference>Q9ULM3</Reference>
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+              <ExternalReference id="178943">
+                <Source>OMIM</Source>
+                <Reference>613373</Reference>
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+            <LocusList count="1">
+              <Locus id="53637">
+                <GeneLocus>3q27.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29127138[PMID]</SourceOfValidation>
+          <Gene id="17342">
+            <Name lang="en">catenin delta 2</Name>
+            <Symbol>CTNND2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GT24</Synonym>
+              <Synonym lang="en">NPRAP</Synonym>
+              <Synonym lang="en">neural plakophilin-related arm-repeat protein</Synonym>
+              <Synonym lang="en">neurojungin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="56958">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169862</Reference>
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+              <ExternalReference id="36915">
+                <Source>Genatlas</Source>
+                <Reference>CTNND2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2516</Reference>
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+              <ExternalReference id="36916">
+                <Source>OMIM</Source>
+                <Reference>604275</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UQB3</Reference>
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+                <GeneLocus>5p15.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23518707[PMID]</SourceOfValidation>
+          <Gene id="22039">
+            <Name lang="en">contactin 2</Name>
+            <Symbol>CNTN2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TAG-1</Synonym>
+              <Synonym lang="en">TAX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83795">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184144</Reference>
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+              <ExternalReference id="78967">
+                <Source>Genatlas</Source>
+                <Reference>CNTN2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2172</Reference>
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+                <Source>OMIM</Source>
+                <Reference>190197</Reference>
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+              <ExternalReference id="83794">
+                <Source>Reactome</Source>
+                <Reference>Q02246</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q02246</Reference>
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+                <GeneLocus>1q32.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24114805[PMID]</SourceOfValidation>
+          <Gene id="22675">
+            <Name lang="en">adrenoceptor alpha 2B</Name>
+            <Symbol>ADRA2B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">ADRARL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95186">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000274286</Reference>
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+              <ExternalReference id="87825">
+                <Source>Genatlas</Source>
+                <Reference>ADRA2B</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>26</Reference>
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+                <Source>OMIM</Source>
+                <Reference>104260</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P18089</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P18089</Reference>
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+                <GeneLocus>2q11.2</GeneLocus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31664039[PMID]</SourceOfValidation>
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+            <Name lang="en">membrane associated ring-CH-type finger 6</Name>
+            <Symbol>MARCHF6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MARCH-VI</Synonym>
+              <Synonym lang="en">RNF176</Synonym>
+              <Synonym lang="en">TEB4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>30550</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145495</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O60337</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O60337</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613297</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Aplasia of lacrimal and salivary glands</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">fibroblast growth factor 10</Name>
+            <Symbol>FGF10</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000070193</Reference>
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+                <Reference>FGF10</Reference>
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+                <Reference>3666</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O15520</Reference>
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+      <Name lang="en">Familial avascular necrosis of femoral head</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
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+                <Reference>TRPV4</Reference>
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+                <Reference>18083</Reference>
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+                <Reference>510</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15930420[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000139219</Reference>
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+                <Reference>COL2A1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
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+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>86816</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=86816</ExpertLink>
+      <Name lang="en">Congenital analbuminemia</Name>
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+        <Name lang="en">Disease</Name>
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+          <SourceOfValidation>7937781[PMID]_15996651[PMID]</SourceOfValidation>
+          <Gene id="15485">
+            <Name lang="en">albumin</Name>
+            <Symbol>ALB</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163631</Reference>
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+              <ExternalReference id="26757">
+                <Source>Genatlas</Source>
+                <Reference>ALB</Reference>
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+              <ExternalReference id="26755">
+                <Source>HGNC</Source>
+                <Reference>399</Reference>
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+                <Reference>103600</Reference>
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+              <ExternalReference id="59479">
+                <Source>Reactome</Source>
+                <Reference>P02768</Reference>
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+                <Reference>P02768</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>512017</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=512017</ExpertLink>
+      <Name lang="en">Chronic lymphoproliferative disorder of natural killer cells</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29385279[PMID]</SourceOfValidation>
+          <Gene id="16805">
+            <Name lang="en">signal transducer and activator of transcription 3</Name>
+            <Symbol>STAT3</Symbol>
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+              <Synonym lang="en">APRF</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168610</Reference>
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+              <ExternalReference id="35023">
+                <Source>Genatlas</Source>
+                <Reference>STAT3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11364</Reference>
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+                <Source>OMIM</Source>
+                <Reference>102582</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P40763</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P40763</Reference>
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+              <ExternalReference id="190408">
+                <Source>IUPHAR</Source>
+                <Reference>2994</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Hemolytic anemia due to adenylate kinase deficiency</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>9432020[PMID]_10233365[PMID]</SourceOfValidation>
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+            <Name lang="en">adenylate kinase 1</Name>
+            <Symbol>AK1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106992</Reference>
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+              <ExternalReference id="26739">
+                <Source>Genatlas</Source>
+                <Reference>AK1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>361</Reference>
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+                <Source>OMIM</Source>
+                <Reference>103000</Reference>
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+              <ExternalReference id="59481">
+                <Source>Reactome</Source>
+                <Reference>P00568</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00568</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 5</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59483">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000176076</Reference>
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+              <ExternalReference id="37500">
+                <Source>Genatlas</Source>
+                <Reference>KCNE1L</Reference>
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+                <Reference>6241</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300328</Reference>
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+              <ExternalReference id="98061">
+                <Source>Reactome</Source>
+                <Reference>Q9UJ90</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27811305[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y4X0</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11889465_9598718[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>O60488</Reference>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126458</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10447</Reference>
+              </ExternalReference>
+              <ExternalReference id="142903">
+                <Source>Genatlas</Source>
+                <Reference>RRAS</Reference>
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+              <ExternalReference id="132418">
+                <Source>OMIM</Source>
+                <Reference>165090</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="37525">
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19571318[PMID]_21930766[PMID]_20139388[PMID]_23832011[PMID]</SourceOfValidation>
+          <Gene id="15170">
+            <Name lang="en">protein tyrosine phosphatase non-receptor type 11</Name>
+            <Symbol>PTPN11</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BPTP3</Synonym>
+              <Synonym lang="en">PTP2C</Synonym>
+              <Synonym lang="en">SH-PTP2</Synonym>
+              <Synonym lang="en">SH2 domain-containing protein tyrosine phosphatase 2</Synonym>
+              <Synonym lang="en">SHP-2</Synonym>
+              <Synonym lang="en">SHP2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56973">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179295</Reference>
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+              <ExternalReference id="25244">
+                <Source>Genatlas</Source>
+                <Reference>PTPN11</Reference>
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+              <ExternalReference id="25242">
+                <Source>HGNC</Source>
+                <Reference>9644</Reference>
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+              <ExternalReference id="25241">
+                <Source>OMIM</Source>
+                <Reference>176876</Reference>
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+              <ExternalReference id="56974">
+                <Source>Reactome</Source>
+                <Reference>Q06124</Reference>
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+              <ExternalReference id="33694">
+                <Source>SwissProt</Source>
+                <Reference>Q06124</Reference>
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+                <GeneLocus>12q24.13</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20139388[PMID]_23832011[PMID]</SourceOfValidation>
+          <Gene id="16312">
+            <Name lang="en">KRAS proto-oncogene, GTPase</Name>
+            <Symbol>KRAS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K-Ras4B</Synonym>
+              <Synonym lang="en">KRAS1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
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+                <Source>IUPHAR</Source>
+                <Reference>2824</Reference>
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+              <ExternalReference id="56977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133703</Reference>
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+              <ExternalReference id="30720">
+                <Source>Genatlas</Source>
+                <Reference>KRAS</Reference>
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+              <ExternalReference id="30718">
+                <Source>HGNC</Source>
+                <Reference>6407</Reference>
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+              <ExternalReference id="30717">
+                <Source>OMIM</Source>
+                <Reference>190070</Reference>
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+              <ExternalReference id="56978">
+                <Source>Reactome</Source>
+                <Reference>P01116</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01116</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19571318[PMID]_20139388[PMID]_23832011[PMID]</SourceOfValidation>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196712</Reference>
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+              <ExternalReference id="31785">
+                <Source>Genatlas</Source>
+                <Reference>NF1</Reference>
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+              <ExternalReference id="31787">
+                <Source>HGNC</Source>
+                <Reference>7765</Reference>
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+              <ExternalReference id="46529">
+                <Source>OMIM</Source>
+                <Reference>613113</Reference>
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+              <ExternalReference id="97239">
+                <Source>Reactome</Source>
+                <Reference>P21359</Reference>
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+              <ExternalReference id="33607">
+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20139388[PMID]_22753870[PMID]_23832011[PMID]</SourceOfValidation>
+          <Gene id="18962">
+            <Name lang="en">NRAS proto-oncogene, GTPase</Name>
+            <Symbol>NRAS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">N-ras</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="44185">
+                <Source>HGNC</Source>
+                <Reference>7989</Reference>
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+              <ExternalReference id="44186">
+                <Source>OMIM</Source>
+                <Reference>164790</Reference>
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+              <ExternalReference id="56972">
+                <Source>Reactome</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="44187">
+                <Source>SwissProt</Source>
+                <Reference>P01111</Reference>
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+              <ExternalReference id="56971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213281</Reference>
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+              <ExternalReference id="44184">
+                <Source>Genatlas</Source>
+                <Reference>NRAS</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2823</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23832011[PMID]</SourceOfValidation>
+          <Gene id="19464">
+            <Name lang="en">Cbl proto-oncogene</Name>
+            <Symbol>CBL</Symbol>
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+              <Synonym lang="en">c-Cbl</Synonym>
+              <Synonym lang="en">oncogene CBL2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56968">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110395</Reference>
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+              <ExternalReference id="48375">
+                <Source>Genatlas</Source>
+                <Reference>CBL</Reference>
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+              <ExternalReference id="48376">
+                <Source>HGNC</Source>
+                <Reference>1541</Reference>
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+              <ExternalReference id="48377">
+                <Source>OMIM</Source>
+                <Reference>165360</Reference>
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+              <ExternalReference id="56969">
+                <Source>Reactome</Source>
+                <Reference>P22681</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22681</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="11745">
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+      <Name lang="en">Chronic myeloproliferative disease, unclassifiable</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17296564[PMID]</SourceOfValidation>
+          <Gene id="16785">
+            <Name lang="en">platelet derived growth factor receptor beta</Name>
+            <Symbol>PDGFRB</Symbol>
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+              <Synonym lang="en">CD140b</Synonym>
+              <Synonym lang="en">JTK12</Synonym>
+              <Synonym lang="en">PDGFR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58605">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113721</Reference>
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+              <ExternalReference id="34923">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8804</Reference>
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+              <ExternalReference id="83028">
+                <Source>IUPHAR</Source>
+                <Reference>1804</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="58606">
+                <Source>Reactome</Source>
+                <Reference>P09619</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P09619</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+      <Name lang="en">Chronic neutrophilic leukemia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">colony stimulating factor 3 receptor</Name>
+            <Symbol>CSF3R</Symbol>
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+              <Synonym lang="en">GCSFR</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q99062</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119535</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1719</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138971</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99062</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <Name lang="en">Congenital cerebellar ataxia due to RNU12 mutation</Name>
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+            <Symbol>RNU12</Symbol>
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+              <Synonym lang="en">RNA, U12 small nuclear 1</Synonym>
+              <Synonym lang="en">RNU12-1</Synonym>
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+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000276027</Reference>
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+      <Name lang="en">Acute basophilic leukemia</Name>
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+            <Symbol>MYB</Symbol>
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+                <Reference>ENSG00000118513</Reference>
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+                <Reference>7545</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>GATA1</Symbol>
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+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
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+                <Reference>4170</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+      <Name lang="en">Acute myeloid leukaemia with myelodysplasia-related features</Name>
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+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
+            <Symbol>TET2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20032</Synonym>
+              <Synonym lang="en">ten-eleven translocation 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168769</Reference>
+              </ExternalReference>
+              <ExternalReference id="51832">
+                <Source>Genatlas</Source>
+                <Reference>TET2</Reference>
+              </ExternalReference>
+              <ExternalReference id="51830">
+                <Source>HGNC</Source>
+                <Reference>25941</Reference>
+              </ExternalReference>
+              <ExternalReference id="51831">
+                <Source>OMIM</Source>
+                <Reference>612839</Reference>
+              </ExternalReference>
+              <ExternalReference id="87998">
+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
+              </ExternalReference>
+              <ExternalReference id="51833">
+                <Source>SwissProt</Source>
+                <Reference>Q6N021</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11465">
+                <GeneLocus>4q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11766">
+      <OrphaCode>86872</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=86872</ExpertLink>
+      <Name lang="en">T-cell large granular lymphocyte leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29385279[PMID]_26980727[PMID]</SourceOfValidation>
+          <Gene id="16805">
+            <Name lang="en">signal transducer and activator of transcription 3</Name>
+            <Symbol>STAT3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">APRF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168610</Reference>
+              </ExternalReference>
+              <ExternalReference id="35023">
+                <Source>Genatlas</Source>
+                <Reference>STAT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="35024">
+                <Source>HGNC</Source>
+                <Reference>11364</Reference>
+              </ExternalReference>
+              <ExternalReference id="35026">
+                <Source>OMIM</Source>
+                <Reference>102582</Reference>
+              </ExternalReference>
+              <ExternalReference id="57720">
+                <Source>Reactome</Source>
+                <Reference>P40763</Reference>
+              </ExternalReference>
+              <ExternalReference id="35025">
+                <Source>SwissProt</Source>
+                <Reference>P40763</Reference>
+              </ExternalReference>
+              <ExternalReference id="190408">
+                <Source>IUPHAR</Source>
+                <Reference>2994</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60225">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11772">
+      <OrphaCode>86884</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=86884</ExpertLink>
+      <Name lang="en">Subcutaneous panniculitis-like T-cell lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30374066[PMID]</SourceOfValidation>
+          <Gene id="28031">
+            <Name lang="en">hepatitis A virus cellular receptor 2</Name>
+            <Symbol>HAVCR2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CD366</Synonym>
+              <Synonym lang="en">FLJ14428</Synonym>
+              <Synonym lang="en">T-cell immunoglobulin mucin family member 3</Synonym>
+              <Synonym lang="en">TIM3</Synonym>
+              <Synonym lang="en">TIMD3</Synonym>
+              <Synonym lang="en">Tim-3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="162866">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135077</Reference>
+              </ExternalReference>
+              <ExternalReference id="162867">
+                <Source>SwissProt</Source>
+                <Reference>Q8TDQ0</Reference>
+              </ExternalReference>
+              <ExternalReference id="162868">
+                <Source>Reactome</Source>
+                <Reference>Q8TDQ0</Reference>
+              </ExternalReference>
+              <ExternalReference id="162869">
+                <Source>IUPHAR</Source>
+                <Reference>2940</Reference>
+              </ExternalReference>
+              <ExternalReference id="162870">
+                <Source>OMIM</Source>
+                <Reference>606652</Reference>
+              </ExternalReference>
+              <ExternalReference id="162865">
+                <Source>HGNC</Source>
+                <Reference>18437</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51475">
+                <GeneLocus>5q33.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11529">
+      <OrphaCode>79503</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79503</ExpertLink>
+      <Name lang="en">Ichthyosis hystrix of Curth-Macklin</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16314">
+            <Name lang="en">keratin 1</Name>
+            <Symbol>KRT1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KRT1A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58154">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167768</Reference>
+              </ExternalReference>
+              <ExternalReference id="30729">
+                <Source>Genatlas</Source>
+                <Reference>KRT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30727">
+                <Source>HGNC</Source>
+                <Reference>6412</Reference>
+              </ExternalReference>
+              <ExternalReference id="30726">
+                <Source>OMIM</Source>
+                <Reference>139350</Reference>
+              </ExternalReference>
+              <ExternalReference id="33379">
+                <Source>SwissProt</Source>
+                <Reference>P04264</Reference>
+              </ExternalReference>
+              <ExternalReference id="126345">
+                <Source>Reactome</Source>
+                <Reference>P04264</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26675">
+                <GeneLocus>12q13.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11532">
+      <OrphaCode>79506</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79506</ExpertLink>
+      <Name lang="en">Cholesterol-ester transfer protein deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2022742[PMID]</SourceOfValidation>
+          <Gene id="17444">
+            <Name lang="en">apolipoprotein C3</Name>
+            <Symbol>APOC3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110245</Reference>
+              </ExternalReference>
+              <ExternalReference id="38101">
+                <Source>Genatlas</Source>
+                <Reference>APOC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="38103">
+                <Source>HGNC</Source>
+                <Reference>610</Reference>
+              </ExternalReference>
+              <ExternalReference id="46803">
+                <Source>OMIM</Source>
+                <Reference>107720</Reference>
+              </ExternalReference>
+              <ExternalReference id="59422">
+                <Source>Reactome</Source>
+                <Reference>P02656</Reference>
+              </ExternalReference>
+              <ExternalReference id="38102">
+                <Source>SwissProt</Source>
+                <Reference>P02656</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10221">
+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2586614[PMID]_10998455[PMID]</SourceOfValidation>
+          <Gene id="15435">
+            <Name lang="en">cholesteryl ester transfer protein</Name>
+            <Symbol>CETP</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BPI fold containing family F</Synonym>
+              <Synonym lang="en">BPIFF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59423">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087237</Reference>
+              </ExternalReference>
+              <ExternalReference id="26506">
+                <Source>Genatlas</Source>
+                <Reference>CETP</Reference>
+              </ExternalReference>
+              <ExternalReference id="26504">
+                <Source>HGNC</Source>
+                <Reference>1869</Reference>
+              </ExternalReference>
+              <ExternalReference id="26503">
+                <Source>OMIM</Source>
+                <Reference>118470</Reference>
+              </ExternalReference>
+              <ExternalReference id="59424">
+                <Source>Reactome</Source>
+                <Reference>P11597</Reference>
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+              <ExternalReference id="32404">
+                <Source>SwissProt</Source>
+                <Reference>P11597</Reference>
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+            <LocusList count="1">
+              <Locus id="7401">
+                <GeneLocus>16q13</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11521">
+      <OrphaCode>79495</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79495</ExpertLink>
+      <Name lang="en">X-linked congenital generalized hypertrichosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>21636067[PMID]</SourceOfValidation>
+          <Gene id="16787">
+            <Name lang="en">SRY-box transcription factor 3</Name>
+            <Symbol>SOX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="58340">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134595</Reference>
+              </ExternalReference>
+              <ExternalReference id="34936">
+                <Source>Genatlas</Source>
+                <Reference>SOX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="34933">
+                <Source>HGNC</Source>
+                <Reference>11199</Reference>
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+              <ExternalReference id="34934">
+                <Source>OMIM</Source>
+                <Reference>313430</Reference>
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+              <ExternalReference id="97248">
+                <Source>Reactome</Source>
+                <Reference>P41225</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P41225</Reference>
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+              <Locus id="16743">
+                <GeneLocus>Xq27.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11525">
+      <OrphaCode>79499</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79499</ExpertLink>
+      <Name lang="en">Autosomal dominant deafness-onychodystrophy syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <Gene id="22990">
+            <Name lang="en">ATPase H+ transporting V1 subunit B2</Name>
+            <Symbol>ATP6V1B2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HO57</Synonym>
+              <Synonym lang="en">V-ATPase subunit B2</Synonym>
+              <Synonym lang="en">VATB</Synonym>
+              <Synonym lang="en">Vma2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147416</Reference>
+              </ExternalReference>
+              <ExternalReference id="94434">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V1B2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>854</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606939</Reference>
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+              <ExternalReference id="94622">
+                <Source>Reactome</Source>
+                <Reference>P21281</Reference>
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+              <ExternalReference id="94435">
+                <Source>SwissProt</Source>
+                <Reference>P21281</Reference>
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+              <ExternalReference id="190600">
+                <Source>IUPHAR</Source>
+                <Reference>812</Reference>
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+                <GeneLocus>8p21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <OrphaCode>79500</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79500</ExpertLink>
+      <Name lang="en">DOORS syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">ATPase H+ transporting V1 subunit B2</Name>
+            <Symbol>ATP6V1B2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HO57</Synonym>
+              <Synonym lang="en">V-ATPase subunit B2</Synonym>
+              <Synonym lang="en">VATB</Synonym>
+              <Synonym lang="en">Vma2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147416</Reference>
+              </ExternalReference>
+              <ExternalReference id="94434">
+                <Source>Genatlas</Source>
+                <Reference>ATP6V1B2</Reference>
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+              <ExternalReference id="94432">
+                <Source>HGNC</Source>
+                <Reference>854</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606939</Reference>
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+              <ExternalReference id="94622">
+                <Source>Reactome</Source>
+                <Reference>P21281</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P21281</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>812</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24291220[PMID]</SourceOfValidation>
+          <Gene id="19324">
+            <Name lang="en">TBC1 domain family member 24</Name>
+            <Symbol>TBC1D24</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DFNA65</Synonym>
+              <Synonym lang="en">KIAA1171</Synonym>
+              <Synonym lang="en">TBC/LysM-associated domain containing 6</Synonym>
+              <Synonym lang="en">TLDC6</Synonym>
+              <Synonym lang="en">skywalker homolog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="135062">
+                <Source>Reactome</Source>
+                <Reference>Q9ULP9</Reference>
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+              <ExternalReference id="59490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162065</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TBC1D24</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29203</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613577</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULP9</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11527">
+      <OrphaCode>79501</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79501</ExpertLink>
+      <Name lang="en">Punctate palmoplantar keratoderma type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22972947[PMID]</SourceOfValidation>
+          <Gene id="21446">
+            <Name lang="en">collagen type XIV alpha 1 chain</Name>
+            <Symbol>COL14A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83509">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187955</Reference>
+              </ExternalReference>
+              <ExternalReference id="72407">
+                <Source>Genatlas</Source>
+                <Reference>COL14A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="72405">
+                <Source>HGNC</Source>
+                <Reference>2191</Reference>
+              </ExternalReference>
+              <ExternalReference id="72406">
+                <Source>OMIM</Source>
+                <Reference>120324</Reference>
+              </ExternalReference>
+              <ExternalReference id="83508">
+                <Source>Reactome</Source>
+                <Reference>Q05707</Reference>
+              </ExternalReference>
+              <ExternalReference id="72408">
+                <Source>SwissProt</Source>
+                <Reference>Q05707</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23613">
+                <GeneLocus>8q24.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23000146[PMID]_23064416[PMID]</SourceOfValidation>
+          <Gene id="21570">
+            <Name lang="en">alpha and gamma adaptin binding protein</Name>
+            <Symbol>AAGAB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11506</Synonym>
+              <Synonym lang="en">p34</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83539">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103591</Reference>
+              </ExternalReference>
+              <ExternalReference id="74724">
+                <Source>Genatlas</Source>
+                <Reference>AAGAB</Reference>
+              </ExternalReference>
+              <ExternalReference id="74722">
+                <Source>HGNC</Source>
+                <Reference>25662</Reference>
+              </ExternalReference>
+              <ExternalReference id="74723">
+                <Source>OMIM</Source>
+                <Reference>614888</Reference>
+              </ExternalReference>
+              <ExternalReference id="74725">
+                <Source>SwissProt</Source>
+                <Reference>Q6PD74</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14555">
+                <GeneLocus>15q23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11544">
+      <OrphaCode>79665</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79665</ExpertLink>
+      <Name lang="en">Gardner syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301519[PMID]</SourceOfValidation>
+          <Gene id="16443">
+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP2</Synonym>
+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
+              </ExternalReference>
+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
+              </ExternalReference>
+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
+              </ExternalReference>
+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
+              </ExternalReference>
+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
+              </ExternalReference>
+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25221">
+                <GeneLocus>5q22.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11541">
+      <OrphaCode>79643</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79643</ExpertLink>
+      <Name lang="en">Autosomal recessive hyperinsulinism due to SUR1 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15562009[PMID]_25733449[PMID]</SourceOfValidation>
+          <Gene id="15056">
+            <Name lang="en">ATP binding cassette subfamily C member 8</Name>
+            <Symbol>ABCC8</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ABC36</Synonym>
+              <Synonym lang="en">HHF1</Synonym>
+              <Synonym lang="en">HI</Synonym>
+              <Synonym lang="en">MRP8</Synonym>
+              <Synonym lang="en">PHHI</Synonym>
+              <Synonym lang="en">SUR1</Synonym>
+              <Synonym lang="en">TNDM2</Synonym>
+              <Synonym lang="en">sulfonylurea receptor (hyperinsulinemia)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006071</Reference>
+              </ExternalReference>
+              <ExternalReference id="24690">
+                <Source>Genatlas</Source>
+                <Reference>ABCC8</Reference>
+              </ExternalReference>
+              <ExternalReference id="24692">
+                <Source>HGNC</Source>
+                <Reference>59</Reference>
+              </ExternalReference>
+              <ExternalReference id="82726">
+                <Source>IUPHAR</Source>
+                <Reference>2594</Reference>
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+              <ExternalReference id="24691">
+                <Source>OMIM</Source>
+                <Reference>600509</Reference>
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+              <ExternalReference id="59428">
+                <Source>Reactome</Source>
+                <Reference>Q09428</Reference>
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+              <ExternalReference id="32333">
+                <Source>SwissProt</Source>
+                <Reference>Q09428</Reference>
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+            <LocusList count="1">
+              <Locus id="6689">
+                <GeneLocus>11p15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="11543">
+      <OrphaCode>79651</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=79651</ExpertLink>
+      <Name lang="en">Mild hyperphenylalaninemia</Name>
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+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301677[PMID]</SourceOfValidation>
+          <Gene id="16605">
+            <Name lang="en">phenylalanine hydroxylase</Name>
+            <Symbol>PAH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PH</Synonym>
+              <Synonym lang="en">phenylalanine 4-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59322">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171759</Reference>
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+              <ExternalReference id="32085">
+                <Source>Genatlas</Source>
+                <Reference>PAH</Reference>
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+              <ExternalReference id="32087">
+                <Source>HGNC</Source>
+                <Reference>8582</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1240</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612349</Reference>
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+              <ExternalReference id="59323">
+                <Source>Reactome</Source>
+                <Reference>P00439</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00439</Reference>
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+              <Locus id="18607">
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+    <Disorder id="11542">
+      <OrphaCode>79644</OrphaCode>
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+      <Name lang="en">Autosomal recessive hyperinsulinism due to Kir6.2 deficiency</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8923010[PMID]_25733449[PMID]</SourceOfValidation>
+          <Gene id="16292">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-sensitive inward rectifier potassium channel 11</Synonym>
+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
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+              <ExternalReference id="30625">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
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+                <Reference>600937</Reference>
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+              <ExternalReference id="59295">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
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+    <Disorder id="11563">
+      <OrphaCode>83330</OrphaCode>
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+      <Name lang="en">Proximal spinal muscular atrophy type 1</Name>
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+            <Name lang="en">survival of motor neuron 2, centromeric</Name>
+            <Symbol>SMN2</Symbol>
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+              <Synonym lang="en">GEMIN1</Synonym>
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+              <Synonym lang="en">TDRD16B</Synonym>
+              <Synonym lang="en">tudor domain containing 16B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205571</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SMN2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11118</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601627</Reference>
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+              <ExternalReference id="57250">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
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+                <Reference>Q16637</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11912351[PMID]</SourceOfValidation>
+          <Gene id="16516">
+            <Name lang="en">NLR family apoptosis inhibitory protein</Name>
+            <Symbol>NAIP</Symbol>
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+              <Synonym lang="en">NLR family, BIR domain containing 1</Synonym>
+              <Synonym lang="en">NLRB1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59429">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000249437</Reference>
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+              <ExternalReference id="37537">
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+                <Reference>NAIP</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600355</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13075</Reference>
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+            <Name lang="en">Modifying germline mutation in</Name>
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+            <Name lang="en">survival of motor neuron 1, telomeric</Name>
+            <Symbol>SMN1</Symbol>
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+              <Synonym lang="en">GEMIN1</Synonym>
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+              <Synonym lang="en">SMA3</Synonym>
+              <Synonym lang="en">SMNT</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>SMN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11117</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600354</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="11566">
+      <OrphaCode>83419</OrphaCode>
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+      <Name lang="en">Proximal spinal muscular atrophy type 3</Name>
+      <DisorderType id="21450">
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+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
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+            <Name lang="en">survival of motor neuron 2, centromeric</Name>
+            <Symbol>SMN2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BCD541</Synonym>
+              <Synonym lang="en">GEMIN1</Synonym>
+              <Synonym lang="en">SMNC</Synonym>
+              <Synonym lang="en">TDRD16B</Synonym>
+              <Synonym lang="en">tudor domain containing 16B</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57249">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205571</Reference>
+              </ExternalReference>
+              <ExternalReference id="37366">
+                <Source>Genatlas</Source>
+                <Reference>SMN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26962">
+                <Source>HGNC</Source>
+                <Reference>11118</Reference>
+              </ExternalReference>
+              <ExternalReference id="26961">
+                <Source>OMIM</Source>
+                <Reference>601627</Reference>
+              </ExternalReference>
+              <ExternalReference id="57250">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32499">
+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7579">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11912351[PMID]</SourceOfValidation>
+          <Gene id="16516">
+            <Name lang="en">NLR family apoptosis inhibitory protein</Name>
+            <Symbol>NAIP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">NLR family, BIR domain containing 1</Synonym>
+              <Synonym lang="en">NLRB1</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59429">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000249437</Reference>
+              </ExternalReference>
+              <ExternalReference id="37537">
+                <Source>Genatlas</Source>
+                <Reference>NAIP</Reference>
+              </ExternalReference>
+              <ExternalReference id="31666">
+                <Source>HGNC</Source>
+                <Reference>7634</Reference>
+              </ExternalReference>
+              <ExternalReference id="31665">
+                <Source>OMIM</Source>
+                <Reference>600355</Reference>
+              </ExternalReference>
+              <ExternalReference id="33581">
+                <Source>SwissProt</Source>
+                <Reference>Q13075</Reference>
+              </ExternalReference>
+              <ExternalReference id="190373">
+                <Source>IUPHAR</Source>
+                <Reference>2793</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60155">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
+          <Gene id="16671">
+            <Name lang="en">survival of motor neuron 1, telomeric</Name>
+            <Symbol>SMN1</Symbol>
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+              <Synonym lang="en">BCD541</Synonym>
+              <Synonym lang="en">GEMIN1</Synonym>
+              <Synonym lang="en">SMA1</Synonym>
+              <Synonym lang="en">SMA2</Synonym>
+              <Synonym lang="en">SMA3</Synonym>
+              <Synonym lang="en">SMNT</Synonym>
+              <Synonym lang="en">TDRD16A</Synonym>
+              <Synonym lang="en">gemin-1</Synonym>
+              <Synonym lang="en">tudor domain containing 16A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172062</Reference>
+              </ExternalReference>
+              <ExternalReference id="34049">
+                <Source>Genatlas</Source>
+                <Reference>SMN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="34048">
+                <Source>HGNC</Source>
+                <Reference>11117</Reference>
+              </ExternalReference>
+              <ExternalReference id="34051">
+                <Source>OMIM</Source>
+                <Reference>600354</Reference>
+              </ExternalReference>
+              <ExternalReference id="59431">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+              <ExternalReference id="34050">
+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9673">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11567">
+      <OrphaCode>83420</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83420</ExpertLink>
+      <Name lang="en">Proximal spinal muscular atrophy type 4</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
+          <Gene id="15528">
+            <Name lang="en">survival of motor neuron 2, centromeric</Name>
+            <Symbol>SMN2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BCD541</Synonym>
+              <Synonym lang="en">GEMIN1</Synonym>
+              <Synonym lang="en">SMNC</Synonym>
+              <Synonym lang="en">TDRD16B</Synonym>
+              <Synonym lang="en">tudor domain containing 16B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57249">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205571</Reference>
+              </ExternalReference>
+              <ExternalReference id="37366">
+                <Source>Genatlas</Source>
+                <Reference>SMN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26962">
+                <Source>HGNC</Source>
+                <Reference>11118</Reference>
+              </ExternalReference>
+              <ExternalReference id="26961">
+                <Source>OMIM</Source>
+                <Reference>601627</Reference>
+              </ExternalReference>
+              <ExternalReference id="57250">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32499">
+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7579">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
+          <Gene id="16671">
+            <Name lang="en">survival of motor neuron 1, telomeric</Name>
+            <Symbol>SMN1</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">BCD541</Synonym>
+              <Synonym lang="en">GEMIN1</Synonym>
+              <Synonym lang="en">SMA1</Synonym>
+              <Synonym lang="en">SMA2</Synonym>
+              <Synonym lang="en">SMA3</Synonym>
+              <Synonym lang="en">SMNT</Synonym>
+              <Synonym lang="en">TDRD16A</Synonym>
+              <Synonym lang="en">gemin-1</Synonym>
+              <Synonym lang="en">tudor domain containing 16A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172062</Reference>
+              </ExternalReference>
+              <ExternalReference id="34049">
+                <Source>Genatlas</Source>
+                <Reference>SMN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="34048">
+                <Source>HGNC</Source>
+                <Reference>11117</Reference>
+              </ExternalReference>
+              <ExternalReference id="34051">
+                <Source>OMIM</Source>
+                <Reference>600354</Reference>
+              </ExternalReference>
+              <ExternalReference id="59431">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+              <ExternalReference id="34050">
+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9673">
+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11565">
+      <OrphaCode>83418</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83418</ExpertLink>
+      <Name lang="en">Proximal spinal muscular atrophy type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
+          <Gene id="15528">
+            <Name lang="en">survival of motor neuron 2, centromeric</Name>
+            <Symbol>SMN2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BCD541</Synonym>
+              <Synonym lang="en">GEMIN1</Synonym>
+              <Synonym lang="en">SMNC</Synonym>
+              <Synonym lang="en">TDRD16B</Synonym>
+              <Synonym lang="en">tudor domain containing 16B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57249">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205571</Reference>
+              </ExternalReference>
+              <ExternalReference id="37366">
+                <Source>Genatlas</Source>
+                <Reference>SMN2</Reference>
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+              <ExternalReference id="26962">
+                <Source>HGNC</Source>
+                <Reference>11118</Reference>
+              </ExternalReference>
+              <ExternalReference id="26961">
+                <Source>OMIM</Source>
+                <Reference>601627</Reference>
+              </ExternalReference>
+              <ExternalReference id="57250">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32499">
+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11912351[PMID]</SourceOfValidation>
+          <Gene id="16516">
+            <Name lang="en">NLR family apoptosis inhibitory protein</Name>
+            <Symbol>NAIP</Symbol>
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+              <Synonym lang="en">NLRB1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59429">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000249437</Reference>
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+              <ExternalReference id="37537">
+                <Source>Genatlas</Source>
+                <Reference>NAIP</Reference>
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+              <ExternalReference id="31666">
+                <Source>HGNC</Source>
+                <Reference>7634</Reference>
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+              <ExternalReference id="31665">
+                <Source>OMIM</Source>
+                <Reference>600355</Reference>
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+              <ExternalReference id="33581">
+                <Source>SwissProt</Source>
+                <Reference>Q13075</Reference>
+              </ExternalReference>
+              <ExternalReference id="190373">
+                <Source>IUPHAR</Source>
+                <Reference>2793</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>5q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301526[PMID]</SourceOfValidation>
+          <Gene id="16671">
+            <Name lang="en">survival of motor neuron 1, telomeric</Name>
+            <Symbol>SMN1</Symbol>
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+              <Synonym lang="en">GEMIN1</Synonym>
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+              <Synonym lang="en">SMA2</Synonym>
+              <Synonym lang="en">SMA3</Synonym>
+              <Synonym lang="en">SMNT</Synonym>
+              <Synonym lang="en">TDRD16A</Synonym>
+              <Synonym lang="en">gemin-1</Synonym>
+              <Synonym lang="en">tudor domain containing 16A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172062</Reference>
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+              <ExternalReference id="34049">
+                <Source>Genatlas</Source>
+                <Reference>SMN1</Reference>
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+              <ExternalReference id="34048">
+                <Source>HGNC</Source>
+                <Reference>11117</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600354</Reference>
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+              <ExternalReference id="59431">
+                <Source>Reactome</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16637</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11579">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83469</ExpertLink>
+      <Name lang="en">Desmoplastic small round cell tumor</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15731">
+            <Name lang="en">WT1 transcription factor</Name>
+            <Symbol>WT1</Symbol>
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+              <Synonym lang="en">AWT1</Synonym>
+              <Synonym lang="en">NPHS4</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">WIT-2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184937</Reference>
+              </ExternalReference>
+              <ExternalReference id="27924">
+                <Source>Genatlas</Source>
+                <Reference>WT1</Reference>
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+              <ExternalReference id="27922">
+                <Source>HGNC</Source>
+                <Reference>12796</Reference>
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+              <ExternalReference id="27921">
+                <Source>OMIM</Source>
+                <Reference>607102</Reference>
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+              <ExternalReference id="32703">
+                <Source>SwissProt</Source>
+                <Reference>P19544</Reference>
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+              <ExternalReference id="143904">
+                <Source>Reactome</Source>
+                <Reference>P19544</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
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+          <Gene id="16003">
+            <Name lang="en">EWS RNA binding protein 1</Name>
+            <Symbol>EWSR1</Symbol>
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+              <Synonym lang="en">EWS</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000182944</Reference>
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+                <Reference>EWSR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3508</Reference>
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+                <Reference>Q01844</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11576">
+      <OrphaCode>83465</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83465</ExpertLink>
+      <Name lang="en">Narcolepsy type 2</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>10973318[PMID]_23643651[PMID]</SourceOfValidation>
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+            <Name lang="en">hypocretin neuropeptide precursor</Name>
+            <Symbol>HCRT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">OX</Synonym>
+              <Synonym lang="en">PPOX</Synonym>
+              <Synonym lang="en">orexin</Synonym>
+              <Synonym lang="en">prepro-orexin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O43612</Reference>
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+              <ExternalReference id="58679">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161610</Reference>
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+                <Reference>HCRT</Reference>
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+                <Reference>4847</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602358</Reference>
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+              <ExternalReference id="58680">
+                <Source>Reactome</Source>
+                <Reference>O43612</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22161">
+                <GeneLocus>17q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18706091[PMID]_19410508[PMID]</SourceOfValidation>
+          <Gene id="16202">
+            <Name lang="en">major histocompatibility complex, class II, DR beta 1</Name>
+            <Symbol>HLA-DRB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56818">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196126</Reference>
+              </ExternalReference>
+              <ExternalReference id="37478">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DRB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30196">
+                <Source>HGNC</Source>
+                <Reference>4948</Reference>
+              </ExternalReference>
+              <ExternalReference id="30195">
+                <Source>OMIM</Source>
+                <Reference>142857</Reference>
+              </ExternalReference>
+              <ExternalReference id="56819">
+                <Source>Reactome</Source>
+                <Reference>P04229</Reference>
+              </ExternalReference>
+              <ExternalReference id="189394">
+                <Source>SwissProt</Source>
+                <Reference>P01911</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18706091[PMID]_21345702[PMID]</SourceOfValidation>
+          <Gene id="18703">
+            <Name lang="en">major histocompatibility complex, class II, DQ beta 1</Name>
+            <Symbol>HLA-DQB1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CELIAC1</Synonym>
+              <Synonym lang="en">IDDM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179344</Reference>
+              </ExternalReference>
+              <ExternalReference id="43209">
+                <Source>Genatlas</Source>
+                <Reference>HLA-DQB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="43210">
+                <Source>HGNC</Source>
+                <Reference>4944</Reference>
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+              <ExternalReference id="43211">
+                <Source>OMIM</Source>
+                <Reference>604305</Reference>
+              </ExternalReference>
+              <ExternalReference id="82670">
+                <Source>Reactome</Source>
+                <Reference>P01920</Reference>
+              </ExternalReference>
+              <ExternalReference id="82625">
+                <Source>SwissProt</Source>
+                <Reference>P01920</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24817">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24204295[PMID]</SourceOfValidation>
+          <Gene id="22535">
+            <Name lang="en">zinc finger protein 365</Name>
+            <Symbol>ZNF365</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0844</Synonym>
+              <Synonym lang="en">Su48</Synonym>
+              <Synonym lang="en">Talanin</Synonym>
+              <Synonym lang="en">UAN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135267">
+                <Source>SwissProt</Source>
+                <Reference>Q70YC5</Reference>
+              </ExternalReference>
+              <ExternalReference id="82541">
+                <Source>Genatlas</Source>
+                <Reference>ZNF365</Reference>
+              </ExternalReference>
+              <ExternalReference id="82539">
+                <Source>HGNC</Source>
+                <Reference>18194</Reference>
+              </ExternalReference>
+              <ExternalReference id="82540">
+                <Source>OMIM</Source>
+                <Reference>607818</Reference>
+              </ExternalReference>
+              <ExternalReference id="82542">
+                <Source>SwissProt</Source>
+                <Reference>Q70YC4</Reference>
+              </ExternalReference>
+              <ExternalReference id="84090">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138311</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36201">
+                <GeneLocus>10q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11582">
+      <OrphaCode>83473</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83473</ExpertLink>
+      <Name lang="en">Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22729224[PMID]</SourceOfValidation>
+          <Gene id="21205">
+            <Name lang="en">phosphoinositide-3-kinase regulatory subunit 2</Name>
+            <Symbol>PIK3R2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">P85B</Synonym>
+              <Synonym lang="en">p85</Synonym>
+              <Synonym lang="en">phosphoinositide-3-kinase regulatory subunit beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190555">
+                <Source>IUPHAR</Source>
+                <Reference>2504</Reference>
+              </ExternalReference>
+              <ExternalReference id="83452">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105647</Reference>
+              </ExternalReference>
+              <ExternalReference id="70408">
+                <Source>Genatlas</Source>
+                <Reference>PIK3R2</Reference>
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+              <ExternalReference id="70406">
+                <Source>HGNC</Source>
+                <Reference>8980</Reference>
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+              <ExternalReference id="70407">
+                <Source>OMIM</Source>
+                <Reference>603157</Reference>
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+              <ExternalReference id="83451">
+                <Source>Reactome</Source>
+                <Reference>O00459</Reference>
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+              <ExternalReference id="70409">
+                <Source>SwissProt</Source>
+                <Reference>O00459</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>19p13.11</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26520804[PMID]</SourceOfValidation>
+          <Gene id="21205">
+            <Name lang="en">phosphoinositide-3-kinase regulatory subunit 2</Name>
+            <Symbol>PIK3R2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">P85B</Synonym>
+              <Synonym lang="en">p85</Synonym>
+              <Synonym lang="en">phosphoinositide-3-kinase regulatory subunit beta</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190555">
+                <Source>IUPHAR</Source>
+                <Reference>2504</Reference>
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+              <ExternalReference id="83452">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105647</Reference>
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+              <ExternalReference id="70408">
+                <Source>Genatlas</Source>
+                <Reference>PIK3R2</Reference>
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+              <ExternalReference id="70406">
+                <Source>HGNC</Source>
+                <Reference>8980</Reference>
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+              <ExternalReference id="70407">
+                <Source>OMIM</Source>
+                <Reference>603157</Reference>
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+              <ExternalReference id="83451">
+                <Source>Reactome</Source>
+                <Reference>O00459</Reference>
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+              <ExternalReference id="70409">
+                <Source>SwissProt</Source>
+                <Reference>O00459</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24705253[PMID]</SourceOfValidation>
+          <Gene id="22819">
+            <Name lang="en">cyclin D2</Name>
+            <Symbol>CCND2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">G1/S-specific cyclin D2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1583</Reference>
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+              <ExternalReference id="89707">
+                <Source>OMIM</Source>
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+              <ExternalReference id="91556">
+                <Source>Reactome</Source>
+                <Reference>P30279</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P30279</Reference>
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+              <ExternalReference id="91557">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118971</Reference>
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+              <ExternalReference id="89708">
+                <Source>Genatlas</Source>
+                <Reference>CCND2</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22729224[PMID]</SourceOfValidation>
+          <Gene id="21098">
+            <Name lang="en">AKT serine/threonine kinase 3</Name>
+            <Symbol>AKT3</Symbol>
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+              <Synonym lang="en">PRKBG</Synonym>
+              <Synonym lang="en">RAC-gamma</Synonym>
+              <Synonym lang="en">protein kinase B, gamma</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117020</Reference>
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+              <ExternalReference id="61899">
+                <Source>Genatlas</Source>
+                <Reference>AKT3</Reference>
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+                <Reference>393</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2286</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="83368">
+                <Source>Reactome</Source>
+                <Reference>Q9Y243</Reference>
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+              <ExternalReference id="61900">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y243</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">CAMOS syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20531441[PMID]_26123727[PMID]</SourceOfValidation>
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+            <Name lang="en">zinc finger protein 592</Name>
+            <Symbol>ZNF592</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CAMOS</Synonym>
+              <Synonym lang="en">KIAA0211</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166716</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ZNF592</Reference>
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+                <Source>HGNC</Source>
+                <Reference>28986</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613624</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92610</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q92610</Reference>
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+            <Name lang="en">Not yet assessed</Name>
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+            <Name lang="en">WD repeat domain 73</Name>
+            <Symbol>WDR73</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>WDR73</Reference>
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+                <Reference>616144</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6P4I2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Microtia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">homeobox A2</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105996</Reference>
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+                <Reference>5103</Reference>
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+      <Name lang="en">Congenital primary aphakia</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16826526[PMID]</SourceOfValidation>
+          <Gene id="16067">
+            <Name lang="en">forkhead box E3</Name>
+            <Symbol>FOXE3</Symbol>
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+              <Synonym lang="en">FREAC8</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186790</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FOXE3</Reference>
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+              <ExternalReference id="29549">
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+                <Reference>3808</Reference>
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+              <ExternalReference id="29548">
+                <Source>OMIM</Source>
+                <Reference>601094</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13461</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11573">
+      <OrphaCode>83454</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=83454</ExpertLink>
+      <Name lang="en">Glomuvenous malformation</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>11845407[PMID]_22092580[PMID]</SourceOfValidation>
+          <Gene id="16140">
+            <Name lang="en">glomulin, FKBP associated protein</Name>
+            <Symbol>GLMN</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FAP48</Synonym>
+              <Synonym lang="en">FAP68</Synonym>
+              <Synonym lang="en">FKBPAP</Synonym>
+              <Synonym lang="en">GLML</Synonym>
+              <Synonym lang="en">GVM</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142895">
+                <Source>Reactome</Source>
+                <Reference>Q92990</Reference>
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+              <ExternalReference id="59432">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174842</Reference>
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+              <ExternalReference id="29900">
+                <Source>Genatlas</Source>
+                <Reference>GLMN</Reference>
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+              <ExternalReference id="29902">
+                <Source>HGNC</Source>
+                <Reference>14373</Reference>
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+              <ExternalReference id="29901">
+                <Source>OMIM</Source>
+                <Reference>601749</Reference>
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+              <ExternalReference id="33156">
+                <Source>SwissProt</Source>
+                <Reference>Q92990</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11598">
+      <OrphaCode>83620</OrphaCode>
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+      <Name lang="en">Enteric anendocrinosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16855267[PMID]</SourceOfValidation>
+          <Gene id="16541">
+            <Name lang="en">neurogenin 3</Name>
+            <Symbol>NEUROG3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">Atoh5</Synonym>
+              <Synonym lang="en">Math4B</Synonym>
+              <Synonym lang="en">bHLHa7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122859</Reference>
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+              <ExternalReference id="31783">
+                <Source>Genatlas</Source>
+                <Reference>NEUROG3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13806</Reference>
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+              <ExternalReference id="31780">
+                <Source>OMIM</Source>
+                <Reference>604882</Reference>
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+              <ExternalReference id="59437">
+                <Source>Reactome</Source>
+                <Reference>Q9Y4Z2</Reference>
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+              <ExternalReference id="33606">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4Z2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Senior-Boichis syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25557784[PMID]</SourceOfValidation>
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+            <Name lang="en">doublecortin domain containing 2</Name>
+            <Symbol>DCDC2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">RU2</Synonym>
+              <Synonym lang="en">nephronophthisis 19</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95972">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146038</Reference>
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+              <ExternalReference id="95970">
+                <Source>Genatlas</Source>
+                <Reference>DCDC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18141</Reference>
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+              <ExternalReference id="95969">
+                <Source>OMIM</Source>
+                <Reference>605755</Reference>
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+              <ExternalReference id="95971">
+                <Source>SwissProt</Source>
+                <Reference>Q9UHG0</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9UHG0</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19508969[PMID]</SourceOfValidation>
+          <Gene id="15629">
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+            <Symbol>TMEM67</Symbol>
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+              <Synonym lang="en">JBTS6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164953</Reference>
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+                <Reference>28396</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97187">
+                <Source>Reactome</Source>
+                <Reference>Q5HYA8</Reference>
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+              <ExternalReference id="32601">
+                <Source>SwissProt</Source>
+                <Reference>Q5HYA8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Fibronectin glomerulopathy</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>FN1</Symbol>
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+              <Synonym lang="en">Cold-insoluble globulin</Synonym>
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+              <Synonym lang="en">Migration-stimulating factor</Synonym>
+              <Synonym lang="en">cold-insoluble globulin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Syndromic diarrhea</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">apoptosis inducing factor mitochondria associated 1</Name>
+            <Symbol>AIFM1</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">CMTX4</Synonym>
+              <Synonym lang="en">DFNX5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156709</Reference>
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+                <Reference>8768</Reference>
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+      <Name lang="en">Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome</Name>
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+            <Symbol>WDR26</Symbol>
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+                <Reference>ENSG00000162923</Reference>
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+                <Reference>Q9H7D7</Reference>
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+                <Reference>617424</Reference>
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+                <Reference>WDR26</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H7D7</Reference>
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+      <Name lang="en">Microcytic anemia with liver iron overload</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110911</Reference>
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+                <Reference>SLC11A2</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23913001[PMID]</SourceOfValidation>
+          <Gene id="21881">
+            <Name lang="en">calcium voltage-gated channel subunit alpha1 D</Name>
+            <Symbol>CACNA1D</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CACH3</Synonym>
+              <Synonym lang="en">CACN4</Synonym>
+              <Synonym lang="en">Cav1.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83686">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157388</Reference>
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+              <ExternalReference id="77471">
+                <Source>Genatlas</Source>
+                <Reference>CACNA1D</Reference>
+              </ExternalReference>
+              <ExternalReference id="77469">
+                <Source>HGNC</Source>
+                <Reference>1391</Reference>
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+              <ExternalReference id="83687">
+                <Source>IUPHAR</Source>
+                <Reference>530</Reference>
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+                <Source>OMIM</Source>
+                <Reference>114206</Reference>
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+              <ExternalReference id="83685">
+                <Source>Reactome</Source>
+                <Reference>Q01668</Reference>
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+              <ExternalReference id="77472">
+                <Source>SwissProt</Source>
+                <Reference>Q01668</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24082052[PMID]_23416519[PMID]</SourceOfValidation>
+          <Gene id="22408">
+            <Name lang="en">ATPase Na+/K+ transporting subunit alpha 1</Name>
+            <Symbol>ATP1A1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">sodium pump subunit alpha-1</Synonym>
+              <Synonym lang="en">sodium-potassium ATPase catalytic subunit alpha-1</Synonym>
+              <Synonym lang="en">sodium/potassium-transporting ATPase subunit alpha-1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>182310</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P05023</Reference>
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+              <ExternalReference id="82046">
+                <Source>SwissProt</Source>
+                <Reference>P05023</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163399</Reference>
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+              <ExternalReference id="82045">
+                <Source>Genatlas</Source>
+                <Reference>ATP1A1</Reference>
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+              <ExternalReference id="82043">
+                <Source>HGNC</Source>
+                <Reference>799</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85128</ExpertLink>
+      <Name lang="en">Bothnia retinal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>10102298[PMID]</SourceOfValidation>
+          <Gene id="15213">
+            <Name lang="en">retinaldehyde binding protein 1</Name>
+            <Symbol>RLBP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRALBP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="57568">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140522</Reference>
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+              <ExternalReference id="25445">
+                <Source>Genatlas</Source>
+                <Reference>RLBP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25443">
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+                <Reference>10024</Reference>
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+              <ExternalReference id="25442">
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+                <Reference>180090</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P12271</Reference>
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+              <ExternalReference id="33771">
+                <Source>SwissProt</Source>
+                <Reference>P12271</Reference>
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+              <ExternalReference id="193557">
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+                <Reference>2545</Reference>
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+      <Name lang="en">Cystic leukoencephalopathy without megalencephaly</Name>
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+        <Name lang="en">Disease</Name>
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+            <Name lang="en">NADH:ubiquinone oxidoreductase subunit A2</Name>
+            <Symbol>NDUFA2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">B8</Synonym>
+              <Synonym lang="en">complex I B8 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000131495</Reference>
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+              <ExternalReference id="50437">
+                <Source>Genatlas</Source>
+                <Reference>NDUFA2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7685</Reference>
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+                <Reference>602137</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O43678</Reference>
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+                <Reference>O43678</Reference>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19525954[PMID]</SourceOfValidation>
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+            <Symbol>RNASET2</Symbol>
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+              <Synonym lang="en">RNASE6PL</Synonym>
+              <Synonym lang="en">bA514O12.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="59447">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000026297</Reference>
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+                <Reference>RNASET2</Reference>
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+                <Reference>21686</Reference>
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+            <Symbol>RSPO1</Symbol>
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+              <Synonym lang="en">RSPONDIN</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>RSPO1</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>SELENON</Symbol>
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+            <Symbol>POLR3B</Symbol>
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+                <Reference>ENSG00000099810</Reference>
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+              <Synonym lang="en">GL</Synonym>
+              <Synonym lang="en">HSPC019</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q86WC4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9555">
+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11640">
+      <OrphaCode>85173</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85173</ExpertLink>
+      <Name lang="en">IMAGe syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22634751[PMID]</SourceOfValidation>
+          <Gene id="15425">
+            <Name lang="en">cyclin dependent kinase inhibitor 1C</Name>
+            <Symbol>CDKN1C</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIP2</Synonym>
+              <Synonym lang="en">P57</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60393">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000129757</Reference>
+              </ExternalReference>
+              <ExternalReference id="26457">
+                <Source>Genatlas</Source>
+                <Reference>CDKN1C</Reference>
+              </ExternalReference>
+              <ExternalReference id="26455">
+                <Source>HGNC</Source>
+                <Reference>1786</Reference>
+              </ExternalReference>
+              <ExternalReference id="26454">
+                <Source>OMIM</Source>
+                <Reference>600856</Reference>
+              </ExternalReference>
+              <ExternalReference id="32393">
+                <Source>SwissProt</Source>
+                <Reference>P49918</Reference>
+              </ExternalReference>
+              <ExternalReference id="135046">
+                <Source>Reactome</Source>
+                <Reference>P49918</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35923">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30503519[PMID]</SourceOfValidation>
+          <Gene id="22180">
+            <Name lang="en">DNA polymerase epsilon, catalytic subunit</Name>
+            <Symbol>POLE</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DNA polymerase epsilon catalytic subunit A</Synonym>
+              <Synonym lang="en">POLE1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="79863">
+                <Source>OMIM</Source>
+                <Reference>174762</Reference>
+              </ExternalReference>
+              <ExternalReference id="83879">
+                <Source>Reactome</Source>
+                <Reference>Q07864</Reference>
+              </ExternalReference>
+              <ExternalReference id="79865">
+                <Source>SwissProt</Source>
+                <Reference>Q07864</Reference>
+              </ExternalReference>
+              <ExternalReference id="83880">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177084</Reference>
+              </ExternalReference>
+              <ExternalReference id="79864">
+                <Source>Genatlas</Source>
+                <Reference>POLE</Reference>
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+              <ExternalReference id="79862">
+                <Source>HGNC</Source>
+                <Reference>9177</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23301">
+                <GeneLocus>12q24.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="11639">
+      <OrphaCode>85172</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85172</ExpertLink>
+      <Name lang="en">Microcephalic osteodysplastic dysplasia, Saul-Wilson type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30290151[PMID]</SourceOfValidation>
+          <Gene id="20272">
+            <Name lang="en">component of oligomeric golgi complex 4</Name>
+            <Symbol>COG4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COD1</Synonym>
+              <Synonym lang="en">DKFZP586E1519</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="52042">
+                <Source>OMIM</Source>
+                <Reference>606976</Reference>
+              </ExternalReference>
+              <ExternalReference id="98093">
+                <Source>Reactome</Source>
+                <Reference>Q9H9E3</Reference>
+              </ExternalReference>
+              <ExternalReference id="52044">
+                <Source>SwissProt</Source>
+                <Reference>Q9H9E3</Reference>
+              </ExternalReference>
+              <ExternalReference id="60508">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103051</Reference>
+              </ExternalReference>
+              <ExternalReference id="52043">
+                <Source>Genatlas</Source>
+                <Reference>COG4</Reference>
+              </ExternalReference>
+              <ExternalReference id="52041">
+                <Source>HGNC</Source>
+                <Reference>18620</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="17797">
+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="11636">
+      <OrphaCode>85169</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85169</ExpertLink>
+      <Name lang="en">Familial digital arthropathy-brachydactyly</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21964574[PMID]_24830047[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
+              </ExternalReference>
+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
+                <Reference>TRPV4</Reference>
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+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
+              </ExternalReference>
+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
+              </ExternalReference>
+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+              <ExternalReference id="82619">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
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+            <LocusList count="1">
+              <Locus id="15867">
+                <GeneLocus>12q24.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="11634">
+      <OrphaCode>85167</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85167</ExpertLink>
+      <Name lang="en">Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24387990[PMID]_24387991[PMID]</SourceOfValidation>
+          <Gene id="22624">
+            <Name lang="en">phosphate cytidylyltransferase 1A, choline</Name>
+            <Symbol>PCYT1A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">'phosphate cytidylyltransferase 1, choline, alpha isoform'</Synonym>
+              <Synonym lang="en">CCTalpha</Synonym>
+              <Synonym lang="en">CT</Synonym>
+              <Synonym lang="en">CTP:phosphocholine cytidylyltransferase-alpha</Synonym>
+              <Synonym lang="en">CTPCT</Synonym>
+              <Synonym lang="en">choline-phosphate cytidylyltransferase alpha</Synonym>
+              <Synonym lang="en">phosphorylcholine transferase alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87611">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161217</Reference>
+              </ExternalReference>
+              <ExternalReference id="85422">
+                <Source>Genatlas</Source>
+                <Reference>PCYT1A</Reference>
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+              <ExternalReference id="85420">
+                <Source>HGNC</Source>
+                <Reference>8754</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="87610">
+                <Source>Reactome</Source>
+                <Reference>P49585</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49585</Reference>
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+                <GeneLocus>3q29</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+    <Disorder id="11633">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85166</ExpertLink>
+      <Name lang="en">Platyspondylic dysplasia, Torrance type</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
+              </ExternalReference>
+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
+              </ExternalReference>
+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
+              </ExternalReference>
+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="11632">
+      <OrphaCode>85165</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=85165</ExpertLink>
+      <Name lang="en">Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>10053006[PMID]_18076102[PMID]</SourceOfValidation>
+          <Gene id="16047">
+            <Name lang="en">fibroblast growth factor receptor 3</Name>
+            <Symbol>FGFR3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD333</Synonym>
+              <Synonym lang="en">CEK2</Synonym>
+              <Synonym lang="en">JTK4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068078</Reference>
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+              <ExternalReference id="29458">
+                <Source>Genatlas</Source>
+                <Reference>FGFR3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3690</Reference>
+              </ExternalReference>
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+                <Source>IUPHAR</Source>
+                <Reference>1810</Reference>
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+                <Source>OMIM</Source>
+                <Reference>134934</Reference>
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+              <ExternalReference id="56892">
+                <Source>Reactome</Source>
+                <Reference>P22607</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P22607</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">KLHL7-related Bohring-Opitz-like syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">kelch like family member 7</Name>
+            <Symbol>KLHL7</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KLHL6</Synonym>
+              <Synonym lang="en">RP42</Synonym>
+              <Synonym lang="en">SBBI26</Synonym>
+              <Synonym lang="en">retinitis pigmentosa 42</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57543">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122550</Reference>
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+              <ExternalReference id="42413">
+                <Source>Genatlas</Source>
+                <Reference>KLHL7</Reference>
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+                <Reference>15646</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611119</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IXQ5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>603684</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=603684</ExpertLink>
+      <Name lang="en">KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29074562[PMID]</SourceOfValidation>
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+            <Name lang="en">kelch like family member 7</Name>
+            <Symbol>KLHL7</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KLHL6</Synonym>
+              <Synonym lang="en">RP42</Synonym>
+              <Synonym lang="en">SBBI26</Synonym>
+              <Synonym lang="en">retinitis pigmentosa 42</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122550</Reference>
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+              <ExternalReference id="42413">
+                <Source>Genatlas</Source>
+                <Reference>KLHL7</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15646</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611119</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IXQ5</Reference>
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+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    </Disorder>
+    <Disorder id="30618">
+      <OrphaCode>603694</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=603694</ExpertLink>
+      <Name lang="en">KLHL7-related cold-induced sweating-like syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29074562[PMID]</SourceOfValidation>
+          <Gene id="18464">
+            <Name lang="en">kelch like family member 7</Name>
+            <Symbol>KLHL7</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KLHL6</Synonym>
+              <Synonym lang="en">RP42</Synonym>
+              <Synonym lang="en">SBBI26</Synonym>
+              <Synonym lang="en">retinitis pigmentosa 42</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57543">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122550</Reference>
+              </ExternalReference>
+              <ExternalReference id="42413">
+                <Source>Genatlas</Source>
+                <Reference>KLHL7</Reference>
+              </ExternalReference>
+              <ExternalReference id="42414">
+                <Source>HGNC</Source>
+                <Reference>15646</Reference>
+              </ExternalReference>
+              <ExternalReference id="42415">
+                <Source>OMIM</Source>
+                <Reference>611119</Reference>
+              </ExternalReference>
+              <ExternalReference id="42416">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXQ5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10775">
+                <GeneLocus>7p15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="30684">
+      <OrphaCode>610573</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=610573</ExpertLink>
+      <Name lang="en">CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33217309[PMID]</SourceOfValidation>
+          <Gene id="30685">
+            <Name lang="en">chloride voltage-gated channel 6</Name>
+            <Symbol>CLCN6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="200358">
+                <Source>HGNC</Source>
+                <Reference>2024</Reference>
+              </ExternalReference>
+              <ExternalReference id="201633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011021</Reference>
+              </ExternalReference>
+              <ExternalReference id="201634">
+                <Source>OMIM</Source>
+                <Reference>602726</Reference>
+              </ExternalReference>
+              <ExternalReference id="201635">
+                <Source>IUPHAR</Source>
+                <Reference>705</Reference>
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+              <ExternalReference id="201636">
+                <Source>SwissProt</Source>
+                <Reference>P51797</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="82159">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="30683">
+      <OrphaCode>610569</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=610569</ExpertLink>
+      <Name lang="en">KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29290337[PMID]</SourceOfValidation>
+          <Gene id="28748">
+            <Name lang="en">bridge-like lipid transfer protein family member 1</Name>
+            <Symbol>BLTP1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">FLJ21404</Synonym>
+              <Synonym lang="en">FSA</Synonym>
+              <Synonym lang="en">KIAA1371</Synonym>
+              <Synonym lang="en">Tweek</Synonym>
+              <Synonym lang="en">fragile site-associated</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="179558">
+                <Source>HGNC</Source>
+                <Reference>26953</Reference>
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+              <ExternalReference id="179559">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138688</Reference>
+              </ExternalReference>
+              <ExternalReference id="179560">
+                <Source>SwissProt</Source>
+                <Reference>Q2LD37</Reference>
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+              <ExternalReference id="179561">
+                <Source>OMIM</Source>
+                <Reference>611565</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q27</GeneLocus>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="30688">
+      <OrphaCode>611201</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=611201</ExpertLink>
+      <Name lang="en">Oculogastrointestinal-neurodevelopmental syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32885237[PMID]</SourceOfValidation>
+          <Gene id="31543">
+            <Name lang="en">calpain 15</Name>
+            <Symbol>CAPN15</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
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+                <Source>OMIM</Source>
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+              <ExternalReference id="207709">
+                <Source>HGNC</Source>
+                <Reference>11182</Reference>
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+              <ExternalReference id="209047">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103326</Reference>
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+              <ExternalReference id="209049">
+                <Source>SwissProt</Source>
+                <Reference>O75808</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="30475">
+      <OrphaCode>600668</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=600668</ExpertLink>
+      <Name lang="en">CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="29936">
+            <Name lang="en">cyclin K</Name>
+            <Symbol>CCNK</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CPR4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1596</Reference>
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+                <Reference>O75909</Reference>
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+      <Name lang="en">NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+            <Symbol>NRXN1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Hs.22998</Synonym>
+              <Synonym lang="en">KIAA0578</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="135268">
+                <Source>SwissProt</Source>
+                <Reference>Q9ULB1</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9ULB1</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179915</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NRXN1</Reference>
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+                <Reference>8008</Reference>
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+      <Name lang="en">Rigid spine syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
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+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143632</Reference>
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+          <SourceOfValidation>20301468[PMID]_11528383[PMID]</SourceOfValidation>
+          <Gene id="15270">
+            <Name lang="en">selenoprotein N</Name>
+            <Symbol>SELENON</Symbol>
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+                <Reference>SEPN1</Reference>
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+                <Reference>15999</Reference>
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+                <Reference>Q9NZV5</Reference>
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+      <Name lang="en">Pontocerebellar hypoplasia type 3</Name>
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+            <Name lang="en">piccolo presynaptic cytomatrix protein</Name>
+            <Symbol>PCLO</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">DKFZp779G1236</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186472</Reference>
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+      <Name lang="en">Insulinoma</Name>
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+            <Name lang="en">YY1 transcription factor</Name>
+            <Symbol>YY1</Symbol>
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+              <Synonym lang="en">INO80 complex subunit S</Synonym>
+              <Synonym lang="en">INO80S</Synonym>
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+              <Synonym lang="en">YIN-YANG-1</Synonym>
+              <Synonym lang="en">Yin and Yang 1 protein</Synonym>
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+                <Reference>ENSG00000100811</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26307114[PMID]</SourceOfValidation>
+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56835">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133895</Reference>
+              </ExternalReference>
+              <ExternalReference id="31084">
+                <Source>Genatlas</Source>
+                <Reference>MEN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31086">
+                <Source>HGNC</Source>
+                <Reference>7010</Reference>
+              </ExternalReference>
+              <ExternalReference id="50621">
+                <Source>OMIM</Source>
+                <Reference>613733</Reference>
+              </ExternalReference>
+              <ExternalReference id="82991">
+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+              <ExternalReference id="33454">
+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9189">
+                <GeneLocus>11q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12880">
+      <OrphaCode>97286</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97286</ExpertLink>
+      <Name lang="en">Carney-Stratakis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17667967[PMID]</SourceOfValidation>
+          <Gene id="15262">
+            <Name lang="en">succinate dehydrogenase complex iron sulfur subunit B</Name>
+            <Symbol>SDHB</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">iron-sulfur subunit of complex II</Synonym>
+              <Synonym lang="en">succinate dehydrogenase [ubiquinone] iron-sulfur subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57053">
+                <Source>Reactome</Source>
+                <Reference>P21912</Reference>
+              </ExternalReference>
+              <ExternalReference id="33820">
+                <Source>SwissProt</Source>
+                <Reference>P21912</Reference>
+              </ExternalReference>
+              <ExternalReference id="57052">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117118</Reference>
+              </ExternalReference>
+              <ExternalReference id="25673">
+                <Source>Genatlas</Source>
+                <Reference>SDHB</Reference>
+              </ExternalReference>
+              <ExternalReference id="25675">
+                <Source>HGNC</Source>
+                <Reference>10681</Reference>
+              </ExternalReference>
+              <ExternalReference id="25674">
+                <Source>OMIM</Source>
+                <Reference>185470</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1p36.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17667967[PMID]</SourceOfValidation>
+          <Gene id="15263">
+            <Name lang="en">succinate dehydrogenase complex subunit C</Name>
+            <Symbol>SDHC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CYB560</Synonym>
+              <Synonym lang="en">cybL</Synonym>
+              <Synonym lang="en">large subunit of cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrgenase cytochrome b</Synonym>
+              <Synonym lang="en">succinate dehydrogenase cytochrome b560 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58935">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143252</Reference>
+              </ExternalReference>
+              <ExternalReference id="25681">
+                <Source>Genatlas</Source>
+                <Reference>SDHC</Reference>
+              </ExternalReference>
+              <ExternalReference id="25679">
+                <Source>HGNC</Source>
+                <Reference>10682</Reference>
+              </ExternalReference>
+              <ExternalReference id="25678">
+                <Source>OMIM</Source>
+                <Reference>602413</Reference>
+              </ExternalReference>
+              <ExternalReference id="58936">
+                <Source>Reactome</Source>
+                <Reference>Q99643</Reference>
+              </ExternalReference>
+              <ExternalReference id="33821">
+                <Source>SwissProt</Source>
+                <Reference>Q99643</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7087">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17667967[PMID]</SourceOfValidation>
+          <Gene id="15264">
+            <Name lang="en">succinate dehydrogenase complex subunit D</Name>
+            <Symbol>SDHD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">cybS</Synonym>
+              <Synonym lang="en">small subunit of cytochrome b</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147466">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204370</Reference>
+              </ExternalReference>
+              <ExternalReference id="25683">
+                <Source>Genatlas</Source>
+                <Reference>SDHD</Reference>
+              </ExternalReference>
+              <ExternalReference id="25685">
+                <Source>HGNC</Source>
+                <Reference>10683</Reference>
+              </ExternalReference>
+              <ExternalReference id="25684">
+                <Source>OMIM</Source>
+                <Reference>602690</Reference>
+              </ExternalReference>
+              <ExternalReference id="57055">
+                <Source>Reactome</Source>
+                <Reference>O14521</Reference>
+              </ExternalReference>
+              <ExternalReference id="33822">
+                <Source>SwissProt</Source>
+                <Reference>O14521</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42295">
+                <GeneLocus>11q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12888">
+      <OrphaCode>97297</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97297</ExpertLink>
+      <Name lang="en">Bohring-Opitz syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21706002[PMID]</SourceOfValidation>
+          <Gene id="20545">
+            <Name lang="en">ASXL transcriptional regulator 1</Name>
+            <Symbol>ASXL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0978</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126404">
+                <Source>Reactome</Source>
+                <Reference>Q8IXJ9</Reference>
+              </ExternalReference>
+              <ExternalReference id="59781">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171456</Reference>
+              </ExternalReference>
+              <ExternalReference id="54307">
+                <Source>Genatlas</Source>
+                <Reference>ASXL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54305">
+                <Source>HGNC</Source>
+                <Reference>18318</Reference>
+              </ExternalReference>
+              <ExternalReference id="54306">
+                <Source>OMIM</Source>
+                <Reference>612990</Reference>
+              </ExternalReference>
+              <ExternalReference id="55023">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXJ9</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26793">
+                <GeneLocus>20q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12894">
+      <OrphaCode>97338</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97338</ExpertLink>
+      <Name lang="en">Melanoma of soft tissue</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19561568[PMID]</SourceOfValidation>
+          <Gene id="16003">
+            <Name lang="en">EWS RNA binding protein 1</Name>
+            <Symbol>EWSR1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">EWS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143993">
+                <Source>Reactome</Source>
+                <Reference>Q01844</Reference>
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+              <ExternalReference id="58731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182944</Reference>
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+              <ExternalReference id="37029">
+                <Source>Genatlas</Source>
+                <Reference>EWSR1</Reference>
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+              <ExternalReference id="29221">
+                <Source>HGNC</Source>
+                <Reference>3508</Reference>
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+              <ExternalReference id="29220">
+                <Source>OMIM</Source>
+                <Reference>133450</Reference>
+              </ExternalReference>
+              <ExternalReference id="33017">
+                <Source>SwissProt</Source>
+                <Reference>Q01844</Reference>
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+            <LocusList count="1">
+              <Locus id="39457">
+                <GeneLocus>22q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19561568[PMID]</SourceOfValidation>
+          <Gene id="18482">
+            <Name lang="en">activating transcription factor 1</Name>
+            <Symbol>ATF1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TREB36</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59782">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123268</Reference>
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+              <ExternalReference id="42456">
+                <Source>Genatlas</Source>
+                <Reference>ATF1</Reference>
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+              <ExternalReference id="42457">
+                <Source>HGNC</Source>
+                <Reference>783</Reference>
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+              <ExternalReference id="42458">
+                <Source>OMIM</Source>
+                <Reference>123803</Reference>
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+              <ExternalReference id="59783">
+                <Source>Reactome</Source>
+                <Reference>P18846</Reference>
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+              <ExternalReference id="42459">
+                <Source>SwissProt</Source>
+                <Reference>P18846</Reference>
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+              <Locus id="23489">
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19561568[PMID]</SourceOfValidation>
+          <Gene id="19505">
+            <Name lang="en">cAMP responsive element binding protein 1</Name>
+            <Symbol>CREB1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="49899">
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+              <ExternalReference id="59785">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P16220</Reference>
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+              <ExternalReference id="59784">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118260</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CREB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2345</Reference>
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+              <Locus id="26095">
+                <GeneLocus>2q33.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12901">
+      <OrphaCode>97346</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97346</ExpertLink>
+      <Name lang="en">ADan amyloidosis</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="16276">
+            <Name lang="en">integral membrane protein 2B</Name>
+            <Symbol>ITM2B</Symbol>
+            <SynonymList count="6">
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+              <Synonym lang="en">BRI2</Synonym>
+              <Synonym lang="en">BRICD2B</Synonym>
+              <Synonym lang="en">BRICHOS domain containing 2B</Synonym>
+              <Synonym lang="en">E25B</Synonym>
+              <Synonym lang="en">E3-16</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="33341">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y287</Reference>
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+              <ExternalReference id="59786">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136156</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="30546">
+                <Source>HGNC</Source>
+                <Reference>6174</Reference>
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+              <ExternalReference id="30545">
+                <Source>OMIM</Source>
+                <Reference>603904</Reference>
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+              <ExternalReference id="59787">
+                <Source>Reactome</Source>
+                <Reference>Q9Y287</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12900">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97345</ExpertLink>
+      <Name lang="en">ABri amyloidosis</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">integral membrane protein 2B</Name>
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+              <Synonym lang="en">E25B</Synonym>
+              <Synonym lang="en">E3-16</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y287</Reference>
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+              <ExternalReference id="59786">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136156</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ITM2B</Reference>
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+              <ExternalReference id="30546">
+                <Source>HGNC</Source>
+                <Reference>6174</Reference>
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+              <ExternalReference id="30545">
+                <Source>OMIM</Source>
+                <Reference>603904</Reference>
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+              <ExternalReference id="59787">
+                <Source>Reactome</Source>
+                <Reference>Q9Y287</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12913">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97362</ExpertLink>
+      <Name lang="en">Renal hypoplasia, bilateral</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID]</SourceOfValidation>
+          <Gene id="16610">
+            <Name lang="en">paired box 2</Name>
+            <Symbol>PAX2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075891</Reference>
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+              <ExternalReference id="32113">
+                <Source>Genatlas</Source>
+                <Reference>PAX2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8616</Reference>
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+              <ExternalReference id="32110">
+                <Source>OMIM</Source>
+                <Reference>167409</Reference>
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+              <ExternalReference id="33675">
+                <Source>SwissProt</Source>
+                <Reference>Q02962</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9583">
+                <GeneLocus>10q24.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28270404[PMID]</SourceOfValidation>
+          <Gene id="17919">
+            <Name lang="en">PBX homeobox 1</Name>
+            <Symbol>PBX1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185630</Reference>
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+              <ExternalReference id="40336">
+                <Source>Genatlas</Source>
+                <Reference>PBX1</Reference>
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+              <ExternalReference id="40337">
+                <Source>HGNC</Source>
+                <Reference>8632</Reference>
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+              <ExternalReference id="40338">
+                <Source>OMIM</Source>
+                <Reference>176310</Reference>
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+              <ExternalReference id="87984">
+                <Source>Reactome</Source>
+                <Reference>P40424</Reference>
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+              <ExternalReference id="40339">
+                <Source>SwissProt</Source>
+                <Reference>P40424</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10507">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12914">
+      <OrphaCode>97363</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97363</ExpertLink>
+      <Name lang="en">Unilateral multicystic dysplastic kidney</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20155289[PMID]_23725647[PMID]</SourceOfValidation>
+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HNF1beta</Synonym>
+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
+              </ExternalReference>
+              <ExternalReference id="36402">
+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
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+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
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+              <ExternalReference id="36404">
+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
+              </ExternalReference>
+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
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+              <ExternalReference id="36405">
+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17q12</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="12915">
+      <OrphaCode>97364</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97364</ExpertLink>
+      <Name lang="en">Bilateral multicystic dysplastic kidney</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20155289[PMID]_23725647[PMID]</SourceOfValidation>
+          <Gene id="17228">
+            <Name lang="en">HNF1 homeobox B</Name>
+            <Symbol>HNF1B</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HNF1beta</Synonym>
+              <Synonym lang="en">HNF1ß</Synonym>
+              <Synonym lang="en">LFB3</Synonym>
+              <Synonym lang="en">MODY5</Synonym>
+              <Synonym lang="en">VHNF1</Synonym>
+              <Synonym lang="en">hepatocyte nuclear factor 1 beta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="95172">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000275410</Reference>
+              </ExternalReference>
+              <ExternalReference id="36402">
+                <Source>Genatlas</Source>
+                <Reference>HNF1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="36403">
+                <Source>HGNC</Source>
+                <Reference>11630</Reference>
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+              <ExternalReference id="36404">
+                <Source>OMIM</Source>
+                <Reference>189907</Reference>
+              </ExternalReference>
+              <ExternalReference id="57785">
+                <Source>Reactome</Source>
+                <Reference>P35680</Reference>
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+              <ExternalReference id="36405">
+                <Source>SwissProt</Source>
+                <Reference>P35680</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14481">
+                <GeneLocus>17q12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="12920">
+      <OrphaCode>97369</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97369</ExpertLink>
+      <Name lang="en">Renal tubular dysgenesis of genetic origin</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>16116425[PMID]_22095942[PMID]</SourceOfValidation>
+          <Gene id="15070">
+            <Name lang="en">angiotensin I converting enzyme</Name>
+            <Symbol>ACE</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ACE1</Synonym>
+              <Synonym lang="en">CD143</Synonym>
+              <Synonym lang="en">peptidyl-dipeptidase A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="24757">
+                <Source>Genatlas</Source>
+                <Reference>ACE</Reference>
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+              <ExternalReference id="24759">
+                <Source>HGNC</Source>
+                <Reference>2707</Reference>
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+              <ExternalReference id="82731">
+                <Source>IUPHAR</Source>
+                <Reference>1613</Reference>
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+              <ExternalReference id="24758">
+                <Source>OMIM</Source>
+                <Reference>106180</Reference>
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+              <ExternalReference id="82730">
+                <Source>Reactome</Source>
+                <Reference>P12821</Reference>
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+              <ExternalReference id="32347">
+                <Source>SwissProt</Source>
+                <Reference>P12821</Reference>
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+              <ExternalReference id="59788">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159640</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16116425[PMID]_22095942[PMID]</SourceOfValidation>
+          <Gene id="15475">
+            <Name lang="en">angiotensinogen</Name>
+            <Symbol>AGT</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">alpha-1 antiproteinase, antitrypsin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59793">
+                <Source>Reactome</Source>
+                <Reference>P01019</Reference>
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+              <ExternalReference id="32446">
+                <Source>SwissProt</Source>
+                <Reference>P01019</Reference>
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+              <ExternalReference id="59792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135744</Reference>
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+              <ExternalReference id="26707">
+                <Source>Genatlas</Source>
+                <Reference>AGT</Reference>
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+              <ExternalReference id="26705">
+                <Source>HGNC</Source>
+                <Reference>333</Reference>
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+              <ExternalReference id="26704">
+                <Source>OMIM</Source>
+                <Reference>106150</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16116425[PMID]_22095942[PMID]</SourceOfValidation>
+          <Gene id="16807">
+            <Name lang="en">renin</Name>
+            <Symbol>REN</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59794">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143839</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>REN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9958</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2413</Reference>
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+                <Source>OMIM</Source>
+                <Reference>179820</Reference>
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+              <ExternalReference id="83031">
+                <Source>Reactome</Source>
+                <Reference>P00797</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00797</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16116425[PMID]_22095942[PMID]</SourceOfValidation>
+          <Gene id="16808">
+            <Name lang="en">angiotensin II receptor type 1</Name>
+            <Symbol>AGTR1</Symbol>
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+              <Synonym lang="en">AGTR1A</Synonym>
+              <Synonym lang="en">AT1</Synonym>
+              <Synonym lang="en">AT1B</Synonym>
+              <Synonym lang="en">AT2R1</Synonym>
+              <Synonym lang="en">AT2R1A</Synonym>
+              <Synonym lang="en">AT2R1B</Synonym>
+              <Synonym lang="en">HAT1R</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144891</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AGTR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>336</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>34</Reference>
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+                <Source>OMIM</Source>
+                <Reference>106165</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P30556</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P30556</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Right sided atrial isomerism</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">growth differentiation factor 1</Name>
+            <Symbol>GDF1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P27539</Reference>
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+              <ExternalReference id="57704">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130283</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GDF1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4214</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602880</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P27539</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96182</ExpertLink>
+      <Name lang="en">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="31527">
+            <Name lang="en">growth factor receptor bound protein 10</Name>
+            <Symbol>GRB10</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>4564</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106070</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13322</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>96191</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96191</ExpertLink>
+      <Name lang="en">Paternal uniparental disomy of chromosome 6</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">hydatidiform mole associated and imprinted</Name>
+            <Symbol>HYMAI</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NCRNA00020</Synonym>
+              <Synonym lang="en">non-protein coding RNA 20</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
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+              <ExternalReference id="98043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000283122</Reference>
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+              <ExternalReference id="37160">
+                <Source>Genatlas</Source>
+                <Reference>HYMAI</Reference>
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+                <Reference>5326</Reference>
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+                <Reference>606546</Reference>
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+                <GeneLocus>6q24.2</GeneLocus>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17405">
+            <Name lang="en">PLAG1 like zinc finger 1</Name>
+            <Symbol>PLAGL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LOT1</Synonym>
+              <Synonym lang="en">ZAC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118495</Reference>
+              </ExternalReference>
+              <ExternalReference id="37301">
+                <Source>Genatlas</Source>
+                <Reference>PLAGL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37302">
+                <Source>HGNC</Source>
+                <Reference>9046</Reference>
+              </ExternalReference>
+              <ExternalReference id="37303">
+                <Source>OMIM</Source>
+                <Reference>603044</Reference>
+              </ExternalReference>
+              <ExternalReference id="37304">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM63</Reference>
+              </ExternalReference>
+              <ExternalReference id="100318">
+                <Source>Reactome</Source>
+                <Reference>Q9UM63</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25611">
+                <GeneLocus>6q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12808">
+      <OrphaCode>96184</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96184</ExpertLink>
+      <Name lang="en">Temple syndrome due to maternal uniparental disomy of chromosome 14</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
+          <Gene id="17275">
+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTL2</Synonym>
+              <Synonym lang="en">LINC00023</Synonym>
+              <Synonym lang="en">NCRNA00023</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">onco-lncRNA-83</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="59776">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
+              </ExternalReference>
+              <ExternalReference id="36575">
+                <Source>Genatlas</Source>
+                <Reference>MEG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="36574">
+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
+              </ExternalReference>
+              <ExternalReference id="36576">
+                <Source>OMIM</Source>
+                <Reference>605636</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36471">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Delta1</Synonym>
+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59774">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
+              </ExternalReference>
+              <ExternalReference id="36967">
+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36969">
+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
+              </ExternalReference>
+              <ExternalReference id="36968">
+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
+              </ExternalReference>
+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+              <ExternalReference id="36970">
+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13737">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17276">
+            <Name lang="en">retrotransposon Gag like 1</Name>
+            <Symbol>RTL1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HUR1</Synonym>
+              <Synonym lang="en">MART1</Synonym>
+              <Synonym lang="en">Mar1</Synonym>
+              <Synonym lang="en">PEG11</Synonym>
+              <Synonym lang="en">SIRH2</Synonym>
+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
+              </ExternalReference>
+              <ExternalReference id="36579">
+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36580">
+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
+              </ExternalReference>
+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
+                <Reference>611896</Reference>
+              </ExternalReference>
+              <ExternalReference id="37575">
+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9963">
+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12827">
+      <OrphaCode>96253</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96253</ExpertLink>
+      <Name lang="en">Cushing disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28413019[PMID]</SourceOfValidation>
+          <Gene id="15420">
+            <Name lang="en">cadherin related 23</Name>
+            <Symbol>CDH23</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDHR23</Synonym>
+              <Synonym lang="en">cadherin-related family member 23</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59592">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107736</Reference>
+              </ExternalReference>
+              <ExternalReference id="26431">
+                <Source>Genatlas</Source>
+                <Reference>CDH23</Reference>
+              </ExternalReference>
+              <ExternalReference id="26433">
+                <Source>HGNC</Source>
+                <Reference>13733</Reference>
+              </ExternalReference>
+              <ExternalReference id="26432">
+                <Source>OMIM</Source>
+                <Reference>605516</Reference>
+              </ExternalReference>
+              <ExternalReference id="32388">
+                <Source>SwissProt</Source>
+                <Reference>Q9H251</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7377">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30093687[PMID]</SourceOfValidation>
+          <Gene id="31366">
+            <Name lang="en">ubiquitin specific peptidase 48</Name>
+            <Symbol>USP48</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="205329">
+                <Source>HGNC</Source>
+                <Reference>18533</Reference>
+              </ExternalReference>
+              <ExternalReference id="205735">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090686</Reference>
+              </ExternalReference>
+              <ExternalReference id="205736">
+                <Source>OMIM</Source>
+                <Reference>617445</Reference>
+              </ExternalReference>
+              <ExternalReference id="205737">
+                <Source>SwissProt</Source>
+                <Reference>Q86UV5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88177">
+                <GeneLocus>1p36.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30093687[PMID]</SourceOfValidation>
+          <Gene id="15376">
+            <Name lang="en">B-Raf proto-oncogene, serine/threonine kinase</Name>
+            <Symbol>BRAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BRAF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56979">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157764</Reference>
+              </ExternalReference>
+              <ExternalReference id="26223">
+                <Source>Genatlas</Source>
+                <Reference>BRAF</Reference>
+              </ExternalReference>
+              <ExternalReference id="26221">
+                <Source>HGNC</Source>
+                <Reference>1097</Reference>
+              </ExternalReference>
+              <ExternalReference id="82791">
+                <Source>IUPHAR</Source>
+                <Reference>1943</Reference>
+              </ExternalReference>
+              <ExternalReference id="26220">
+                <Source>OMIM</Source>
+                <Reference>164757</Reference>
+              </ExternalReference>
+              <ExternalReference id="56980">
+                <Source>Reactome</Source>
+                <Reference>P15056</Reference>
+              </ExternalReference>
+              <ExternalReference id="33933">
+                <Source>SwissProt</Source>
+                <Reference>P15056</Reference>
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+            <LocusList count="1">
+              <Locus id="7299">
+                <GeneLocus>7q34</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25485838[PMID]</SourceOfValidation>
+          <Gene id="22898">
+            <Name lang="en">ubiquitin specific peptidase 8</Name>
+            <Symbol>USP8</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HumORF8</Synonym>
+              <Synonym lang="en">KIAA0055</Synonym>
+              <Synonym lang="en">SPG59</Synonym>
+              <Synonym lang="en">UBPY</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91616">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138592</Reference>
+              </ExternalReference>
+              <ExternalReference id="90382">
+                <Source>Genatlas</Source>
+                <Reference>USP8</Reference>
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+              <ExternalReference id="90380">
+                <Source>HGNC</Source>
+                <Reference>12631</Reference>
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+              <ExternalReference id="90381">
+                <Source>OMIM</Source>
+                <Reference>603158</Reference>
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+              <ExternalReference id="91615">
+                <Source>Reactome</Source>
+                <Reference>P40818</Reference>
+              </ExternalReference>
+              <ExternalReference id="90383">
+                <Source>SwissProt</Source>
+                <Reference>P40818</Reference>
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+            <LocusList count="1">
+              <Locus id="23975">
+                <GeneLocus>15q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34427636[PMID]</SourceOfValidation>
+          <Gene id="16572">
+            <Name lang="en">nuclear receptor subfamily 3 group C member 1</Name>
+            <Symbol>NR3C1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GR</Synonym>
+              <Synonym lang="en">glucocorticoid receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58873">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113580</Reference>
+              </ExternalReference>
+              <ExternalReference id="31928">
+                <Source>Genatlas</Source>
+                <Reference>NR3C1</Reference>
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+              <ExternalReference id="31930">
+                <Source>HGNC</Source>
+                <Reference>7978</Reference>
+              </ExternalReference>
+              <ExternalReference id="83014">
+                <Source>IUPHAR</Source>
+                <Reference>625</Reference>
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+              <ExternalReference id="31929">
+                <Source>OMIM</Source>
+                <Reference>138040</Reference>
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+              <ExternalReference id="58874">
+                <Source>Reactome</Source>
+                <Reference>P04150</Reference>
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+              <ExternalReference id="33637">
+                <Source>SwissProt</Source>
+                <Reference>P04150</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35596671[PMID]_33221858[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56954">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
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+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
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+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
+              </ExternalReference>
+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
+              </ExternalReference>
+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
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+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33106857[PMID]</SourceOfValidation>
+          <Gene id="15335">
+            <Name lang="en">ATRX chromatin remodeler</Name>
+            <Symbol>ATRX</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RAD54 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">XH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085224</Reference>
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+              <ExternalReference id="26027">
+                <Source>Genatlas</Source>
+                <Reference>ATRX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>886</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300032</Reference>
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+              <ExternalReference id="33892">
+                <Source>SwissProt</Source>
+                <Reference>P46100</Reference>
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+              <ExternalReference id="143930">
+                <Source>Reactome</Source>
+                <Reference>P46100</Reference>
+              </ExternalReference>
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+                <GeneLocus>Xq21.1</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12835">
+      <OrphaCode>96266</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96266</ExpertLink>
+      <Name lang="en">Leydig cell hypoplasia due to partial LH resistance</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16354">
+            <Name lang="en">luteinizing hormone/choriogonadotropin receptor</Name>
+            <Symbol>LHCGR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LCGR</Synonym>
+              <Synonym lang="en">LGR2</Synonym>
+              <Synonym lang="en">LHR</Synonym>
+              <Synonym lang="en">ULG5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138039</Reference>
+              </ExternalReference>
+              <ExternalReference id="30915">
+                <Source>Genatlas</Source>
+                <Reference>LHCGR</Reference>
+              </ExternalReference>
+              <ExternalReference id="30917">
+                <Source>HGNC</Source>
+                <Reference>6585</Reference>
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+              <ExternalReference id="82981">
+                <Source>IUPHAR</Source>
+                <Reference>254</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>152790</Reference>
+              </ExternalReference>
+              <ExternalReference id="57659">
+                <Source>Reactome</Source>
+                <Reference>P22888</Reference>
+              </ExternalReference>
+              <ExternalReference id="33419">
+                <Source>SwissProt</Source>
+                <Reference>P22888</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>2p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12834">
+      <OrphaCode>96265</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96265</ExpertLink>
+      <Name lang="en">Leydig cell hypoplasia due to complete LH resistance</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16354">
+            <Name lang="en">luteinizing hormone/choriogonadotropin receptor</Name>
+            <Symbol>LHCGR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LCGR</Synonym>
+              <Synonym lang="en">LGR2</Synonym>
+              <Synonym lang="en">LHR</Synonym>
+              <Synonym lang="en">ULG5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138039</Reference>
+              </ExternalReference>
+              <ExternalReference id="30915">
+                <Source>Genatlas</Source>
+                <Reference>LHCGR</Reference>
+              </ExternalReference>
+              <ExternalReference id="30917">
+                <Source>HGNC</Source>
+                <Reference>6585</Reference>
+              </ExternalReference>
+              <ExternalReference id="82981">
+                <Source>IUPHAR</Source>
+                <Reference>254</Reference>
+              </ExternalReference>
+              <ExternalReference id="30916">
+                <Source>OMIM</Source>
+                <Reference>152790</Reference>
+              </ExternalReference>
+              <ExternalReference id="57659">
+                <Source>Reactome</Source>
+                <Reference>P22888</Reference>
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+              <ExternalReference id="33419">
+                <Source>SwissProt</Source>
+                <Reference>P22888</Reference>
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+                <GeneLocus>2p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12843">
+      <OrphaCode>96334</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=96334</ExpertLink>
+      <Name lang="en">Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]_24801763[PMID]</SourceOfValidation>
+          <Gene id="17275">
+            <Name lang="en">maternally expressed 3</Name>
+            <Symbol>MEG3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">GTL2</Synonym>
+              <Synonym lang="en">LINC00023</Synonym>
+              <Synonym lang="en">NCRNA00023</Synonym>
+              <Synonym lang="en">long intergenic non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">non-protein coding RNA 23</Synonym>
+              <Synonym lang="en">onco-lncRNA-83</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="59776">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000214548</Reference>
+              </ExternalReference>
+              <ExternalReference id="36575">
+                <Source>Genatlas</Source>
+                <Reference>MEG3</Reference>
+              </ExternalReference>
+              <ExternalReference id="36574">
+                <Source>HGNC</Source>
+                <Reference>14575</Reference>
+              </ExternalReference>
+              <ExternalReference id="36576">
+                <Source>OMIM</Source>
+                <Reference>605636</Reference>
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+                <GeneLocus>14q32.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17352">
+            <Name lang="en">delta like non-canonical Notch ligand 1</Name>
+            <Symbol>DLK1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Delta1</Synonym>
+              <Synonym lang="en">FA1</Synonym>
+              <Synonym lang="en">Pref-1</Synonym>
+              <Synonym lang="en">ZOG</Synonym>
+              <Synonym lang="en">pG2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59774">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185559</Reference>
+              </ExternalReference>
+              <ExternalReference id="36967">
+                <Source>Genatlas</Source>
+                <Reference>DLK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36969">
+                <Source>HGNC</Source>
+                <Reference>2907</Reference>
+              </ExternalReference>
+              <ExternalReference id="36968">
+                <Source>OMIM</Source>
+                <Reference>176290</Reference>
+              </ExternalReference>
+              <ExternalReference id="59775">
+                <Source>Reactome</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
+              <ExternalReference id="36970">
+                <Source>SwissProt</Source>
+                <Reference>P80370</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>14q32.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18176563[PMID]</SourceOfValidation>
+          <Gene id="17276">
+            <Name lang="en">retrotransposon Gag like 1</Name>
+            <Symbol>RTL1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">HUR1</Synonym>
+              <Synonym lang="en">MART1</Synonym>
+              <Synonym lang="en">Mar1</Synonym>
+              <Synonym lang="en">PEG11</Synonym>
+              <Synonym lang="en">SIRH2</Synonym>
+              <Synonym lang="en">Sushi-Ichi retrotransposon homolog 2</Synonym>
+              <Synonym lang="en">mammalian retrotransposon-derived 1</Synonym>
+              <Synonym lang="en">paternally expressed 11</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59777">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000254656</Reference>
+              </ExternalReference>
+              <ExternalReference id="36579">
+                <Source>Genatlas</Source>
+                <Reference>RTL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36580">
+                <Source>HGNC</Source>
+                <Reference>14665</Reference>
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+              <ExternalReference id="37574">
+                <Source>OMIM</Source>
+                <Reference>611896</Reference>
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+              <ExternalReference id="37575">
+                <Source>SwissProt</Source>
+                <Reference>A6NKG5</Reference>
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+                <GeneLocus>14q32.2</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12860">
+      <OrphaCode>97234</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97234</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to phosphoglycerate mutase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <Gene id="17716">
+            <Name lang="en">phosphoglycerate mutase 2</Name>
+            <Symbol>PGAM2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PGAM-M</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59779">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164708</Reference>
+              </ExternalReference>
+              <ExternalReference id="39103">
+                <Source>Genatlas</Source>
+                <Reference>PGAM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="39104">
+                <Source>HGNC</Source>
+                <Reference>8889</Reference>
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+              <ExternalReference id="42668">
+                <Source>OMIM</Source>
+                <Reference>612931</Reference>
+              </ExternalReference>
+              <ExternalReference id="59780">
+                <Source>Reactome</Source>
+                <Reference>P15259</Reference>
+              </ExternalReference>
+              <ExternalReference id="39106">
+                <Source>SwissProt</Source>
+                <Reference>P15259</Reference>
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+                <GeneLocus>7p13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12861">
+      <OrphaCode>97238</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97238</ExpertLink>
+      <Name lang="en">Rippling muscle disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12557291[PMID]_15668980[PMID]</SourceOfValidation>
+          <Gene id="15403">
+            <Name lang="en">caveolin 3</Name>
+            <Symbol>CAV3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">LGMD1C</Synonym>
+              <Synonym lang="en">LQT9</Synonym>
+              <Synonym lang="en">M-caveolin</Synonym>
+              <Synonym lang="en">VIP-21</Synonym>
+              <Synonym lang="en">VIP21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57494">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182533</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1529</Reference>
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+              <ExternalReference id="26352">
+                <Source>OMIM</Source>
+                <Reference>601253</Reference>
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+              <ExternalReference id="97180">
+                <Source>Reactome</Source>
+                <Reference>P56539</Reference>
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+              <ExternalReference id="32371">
+                <Source>SwissProt</Source>
+                <Reference>P56539</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97239</ExpertLink>
+      <Name lang="en">Reducing body myopathy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">four and a half LIM domains 1</Name>
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+              <Synonym lang="en">Four-and-a-half LIM domains 1</Synonym>
+              <Synonym lang="en">KYO-T</Synonym>
+              <Synonym lang="en">LIM protein SLIMMER</Synonym>
+              <Synonym lang="en">MGC111107</Synonym>
+              <Synonym lang="en">SLIM1</Synonym>
+              <Synonym lang="en">XMPMA</Synonym>
+              <Synonym lang="en">bA535K18.1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59448">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000022267</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>FHL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3702</Reference>
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+              <ExternalReference id="35781">
+                <Source>OMIM</Source>
+                <Reference>300163</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13642</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13642</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12863">
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+      <Name lang="en">Zebra body myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>25747004[PMID]</SourceOfValidation>
+          <Gene id="15075">
+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEM3</Synonym>
+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="24783">
+                <Source>OMIM</Source>
+                <Reference>102610</Reference>
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+              <ExternalReference id="57338">
+                <Source>Reactome</Source>
+                <Reference>P68133</Reference>
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+              <ExternalReference id="32353">
+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143632</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTA1</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>129</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97562</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Benign familial hematuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="15772">
+            <Name lang="en">collagen type IV alpha 3 chain</Name>
+            <Symbol>COL4A3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">tumstatin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59529">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169031</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COL4A3</Reference>
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+              <ExternalReference id="28115">
+                <Source>HGNC</Source>
+                <Reference>2204</Reference>
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+              <ExternalReference id="28114">
+                <Source>OMIM</Source>
+                <Reference>120070</Reference>
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+              <ExternalReference id="59530">
+                <Source>Reactome</Source>
+                <Reference>Q01955</Reference>
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+              <ExternalReference id="32744">
+                <Source>SwissProt</Source>
+                <Reference>Q01955</Reference>
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+                <GeneLocus>2q36.3</GeneLocus>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11685592[PMID]_11961012[PMID]</SourceOfValidation>
+          <Gene id="15773">
+            <Name lang="en">collagen type IV alpha 4 chain</Name>
+            <Symbol>COL4A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CA44</Synonym>
+              <Synonym lang="en">collagen of basement membrane, alpha-4 chain</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59531">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081052</Reference>
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+              <ExternalReference id="36865">
+                <Source>Genatlas</Source>
+                <Reference>COL4A4</Reference>
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+              <ExternalReference id="28120">
+                <Source>HGNC</Source>
+                <Reference>2206</Reference>
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+              <ExternalReference id="28119">
+                <Source>OMIM</Source>
+                <Reference>120131</Reference>
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+              <ExternalReference id="59532">
+                <Source>Reactome</Source>
+                <Reference>P53420</Reference>
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+              <ExternalReference id="32745">
+                <Source>SwissProt</Source>
+                <Reference>P53420</Reference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19937058[PMID]</SourceOfValidation>
+          <Gene id="15774">
+            <Name lang="en">collagen type IV alpha 5 chain</Name>
+            <Symbol>COL4A5</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188153</Reference>
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+              <ExternalReference id="28126">
+                <Source>Genatlas</Source>
+                <Reference>COL4A5</Reference>
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+              <ExternalReference id="28124">
+                <Source>HGNC</Source>
+                <Reference>2207</Reference>
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+                <Source>OMIM</Source>
+                <Reference>303630</Reference>
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+              <ExternalReference id="58684">
+                <Source>Reactome</Source>
+                <Reference>P29400</Reference>
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+              <ExternalReference id="32746">
+                <Source>SwissProt</Source>
+                <Reference>P29400</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>Xq22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12945">
+      <OrphaCode>97685</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=97685</ExpertLink>
+      <Name lang="en">17q11 microdeletion syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16542">
+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Watson disease</Synonym>
+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196712</Reference>
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+              <ExternalReference id="31785">
+                <Source>Genatlas</Source>
+                <Reference>NF1</Reference>
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+              <ExternalReference id="31787">
+                <Source>HGNC</Source>
+                <Reference>7765</Reference>
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+              <ExternalReference id="46529">
+                <Source>OMIM</Source>
+                <Reference>613113</Reference>
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+              <ExternalReference id="97239">
+                <Source>Reactome</Source>
+                <Reference>P21359</Reference>
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+              <ExternalReference id="33607">
+                <Source>SwissProt</Source>
+                <Reference>P21359</Reference>
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+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12661">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95706</ExpertLink>
+      <Name lang="en">Non-syndromic posterior hypospadias</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24722170[PMID]</SourceOfValidation>
+          <Gene id="16667">
+            <Name lang="en">androgen receptor</Name>
+            <Symbol>AR</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AIS</Synonym>
+              <Synonym lang="en">HUMARA</Synonym>
+              <Synonym lang="en">Kennedy disease</Synonym>
+              <Synonym lang="en">NR3C4</Synonym>
+              <Synonym lang="en">SMAX1</Synonym>
+              <Synonym lang="en">testicular feminization</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56923">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169083</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AR</Reference>
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+              <ExternalReference id="34020">
+                <Source>HGNC</Source>
+                <Reference>644</Reference>
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+              <ExternalReference id="83026">
+                <Source>IUPHAR</Source>
+                <Reference>628</Reference>
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+              <ExternalReference id="34019">
+                <Source>OMIM</Source>
+                <Reference>313700</Reference>
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+              <ExternalReference id="56924">
+                <Source>Reactome</Source>
+                <Reference>P10275</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P10275</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>17086185[PMID]</SourceOfValidation>
+          <Gene id="17344">
+            <Name lang="en">mastermind like domain containing 1</Name>
+            <Symbol>MAMLD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CG1</Synonym>
+              <Synonym lang="en">F18</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000013619</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>2568</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300120</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13495</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13495</Reference>
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+                <GeneLocus>Xq28</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95702</ExpertLink>
+      <Name lang="en">X-linked adrenal hypoplasia congenita</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">nuclear receptor subfamily 0 group B member 1</Name>
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+              <Synonym lang="en">AHCH</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>635</Reference>
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+                <Reference>300473</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P51843</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P51843</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169297</Reference>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 5 member 5</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">NADH/NADPH thyroid oxidase p138-tox</Synonym>
+              <Synonym lang="en">NADPH oxidase/peroxidase DUOX2</Synonym>
+              <Synonym lang="en">NADPH thyroid oxidase 2</Synonym>
+              <Synonym lang="en">P138(TOX)</Synonym>
+              <Synonym lang="en">P138-TOX</Synonym>
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+              <Synonym lang="en">dual oxidase-like domains 2</Synonym>
+              <Synonym lang="en">flavoprotein NADPH oxidase</Synonym>
+              <Synonym lang="en">nicotinamide adenine dinucleotide phosphate oxidase</Synonym>
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+                <Source>Reactome</Source>
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+          <Gene id="17751">
+            <Name lang="en">thyroglobulin</Name>
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+                <Reference>TG</Reference>
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+                <Reference>11764</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20537182[PMID]_21543982[PMID]</SourceOfValidation>
+          <Gene id="18432">
+            <Name lang="en">iodotyrosine deiodinase</Name>
+            <Symbol>IYD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DEHAL1</Synonym>
+              <Synonym lang="en">dJ422F24.1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190456">
+                <Source>IUPHAR</Source>
+                <Reference>2488</Reference>
+              </ExternalReference>
+              <ExternalReference id="59766">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000009765</Reference>
+              </ExternalReference>
+              <ExternalReference id="42181">
+                <Source>Genatlas</Source>
+                <Reference>IYD</Reference>
+              </ExternalReference>
+              <ExternalReference id="42182">
+                <Source>HGNC</Source>
+                <Reference>21071</Reference>
+              </ExternalReference>
+              <ExternalReference id="42183">
+                <Source>OMIM</Source>
+                <Reference>612025</Reference>
+              </ExternalReference>
+              <ExternalReference id="59767">
+                <Source>Reactome</Source>
+                <Reference>Q6PHW0</Reference>
+              </ExternalReference>
+              <ExternalReference id="42184">
+                <Source>SwissProt</Source>
+                <Reference>Q6PHW0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60321">
+                <GeneLocus>6q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12668">
+      <OrphaCode>95713</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95713</ExpertLink>
+      <Name lang="en">Athyreosis</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28455095[PMID]</SourceOfValidation>
+          <Gene id="16066">
+            <Name lang="en">forkhead box E1</Name>
+            <Symbol>FOXE1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HFKH4</Synonym>
+              <Synonym lang="en">TTF-2</Synonym>
+              <Synonym lang="en">thyroid transcription factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57792">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178919</Reference>
+              </ExternalReference>
+              <ExternalReference id="29543">
+                <Source>Genatlas</Source>
+                <Reference>FOXE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29545">
+                <Source>HGNC</Source>
+                <Reference>3806</Reference>
+              </ExternalReference>
+              <ExternalReference id="29544">
+                <Source>OMIM</Source>
+                <Reference>602617</Reference>
+              </ExternalReference>
+              <ExternalReference id="33081">
+                <Source>SwissProt</Source>
+                <Reference>O00358</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21397">
+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28455095[PMID]</SourceOfValidation>
+          <Gene id="17094">
+            <Name lang="en">NK2 homeobox 1</Name>
+            <Symbol>NKX2-1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TTF-1</Synonym>
+              <Synonym lang="en">TTF1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142932">
+                <Source>Reactome</Source>
+                <Reference>P43699</Reference>
+              </ExternalReference>
+              <ExternalReference id="57794">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136352</Reference>
+              </ExternalReference>
+              <ExternalReference id="36080">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36077">
+                <Source>HGNC</Source>
+                <Reference>11825</Reference>
+              </ExternalReference>
+              <ExternalReference id="36079">
+                <Source>OMIM</Source>
+                <Reference>600635</Reference>
+              </ExternalReference>
+              <ExternalReference id="36078">
+                <Source>SwissProt</Source>
+                <Reference>P43699</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37581">
+                <GeneLocus>14q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24248179[PMID]</SourceOfValidation>
+          <Gene id="15317">
+            <Name lang="en">solute carrier family 26 member 4</Name>
+            <Symbol>SLC26A4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PDS</Synonym>
+              <Synonym lang="en">pendrin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193542">
+                <Source>IUPHAR</Source>
+                <Reference>1100</Reference>
+              </ExternalReference>
+              <ExternalReference id="57379">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091137</Reference>
+              </ExternalReference>
+              <ExternalReference id="25941">
+                <Source>Genatlas</Source>
+                <Reference>SLC26A4</Reference>
+              </ExternalReference>
+              <ExternalReference id="25943">
+                <Source>HGNC</Source>
+                <Reference>8818</Reference>
+              </ExternalReference>
+              <ExternalReference id="25942">
+                <Source>OMIM</Source>
+                <Reference>605646</Reference>
+              </ExternalReference>
+              <ExternalReference id="57380">
+                <Source>Reactome</Source>
+                <Reference>O43511</Reference>
+              </ExternalReference>
+              <ExternalReference id="33875">
+                <Source>SwissProt</Source>
+                <Reference>O43511</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66493">
+                <GeneLocus>7q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14725684[PMID]</SourceOfValidation>
+          <Gene id="15670">
+            <Name lang="en">thyroid stimulating hormone receptor</Name>
+            <Symbol>TSHR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGR3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58497">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165409</Reference>
+              </ExternalReference>
+              <ExternalReference id="27637">
+                <Source>Genatlas</Source>
+                <Reference>TSHR</Reference>
+              </ExternalReference>
+              <ExternalReference id="27639">
+                <Source>HGNC</Source>
+                <Reference>12373</Reference>
+              </ExternalReference>
+              <ExternalReference id="82847">
+                <Source>IUPHAR</Source>
+                <Reference>255</Reference>
+              </ExternalReference>
+              <ExternalReference id="27638">
+                <Source>OMIM</Source>
+                <Reference>603372</Reference>
+              </ExternalReference>
+              <ExternalReference id="58498">
+                <Source>Reactome</Source>
+                <Reference>P16473</Reference>
+              </ExternalReference>
+              <ExternalReference id="32642">
+                <Source>SwissProt</Source>
+                <Reference>P16473</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7843">
+                <GeneLocus>14q24-q31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16418214[PMID]_25905381[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
+              </ExternalReference>
+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+              <ExternalReference id="31819">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
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+              <ExternalReference id="31821">
+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
+              </ExternalReference>
+              <ExternalReference id="31820">
+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16731">
+                <GeneLocus>5q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25905381[PMID]</SourceOfValidation>
+          <Gene id="16614">
+            <Name lang="en">paired box 8</Name>
+            <Symbol>PAX8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142991">
+                <Source>Reactome</Source>
+                <Reference>Q06710</Reference>
+              </ExternalReference>
+              <ExternalReference id="59763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125618</Reference>
+              </ExternalReference>
+              <ExternalReference id="32132">
+                <Source>Genatlas</Source>
+                <Reference>PAX8</Reference>
+              </ExternalReference>
+              <ExternalReference id="32130">
+                <Source>HGNC</Source>
+                <Reference>8622</Reference>
+              </ExternalReference>
+              <ExternalReference id="32129">
+                <Source>OMIM</Source>
+                <Reference>167415</Reference>
+              </ExternalReference>
+              <ExternalReference id="33679">
+                <Source>SwissProt</Source>
+                <Reference>Q06710</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37699">
+                <GeneLocus>2q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12667">
+      <OrphaCode>95712</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95712</ExpertLink>
+      <Name lang="en">Thyroid ectopia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16418214[PMID]_25905381[PMID]</SourceOfValidation>
+          <Gene id="16549">
+            <Name lang="en">NK2 homeobox 5</Name>
+            <Symbol>NKX2-5</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CSX1</Synonym>
+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97242">
+                <Source>Reactome</Source>
+                <Reference>P52952</Reference>
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+              <ExternalReference id="33614">
+                <Source>SwissProt</Source>
+                <Reference>P52952</Reference>
+              </ExternalReference>
+              <ExternalReference id="57708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+              <ExternalReference id="31819">
+                <Source>Genatlas</Source>
+                <Reference>NKX2-5</Reference>
+              </ExternalReference>
+              <ExternalReference id="31821">
+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
+              </ExternalReference>
+              <ExternalReference id="31820">
+                <Source>OMIM</Source>
+                <Reference>600584</Reference>
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+            <LocusList count="1">
+              <Locus id="16731">
+                <GeneLocus>5q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25214233[PMID]_25905381[PMID]</SourceOfValidation>
+          <Gene id="16614">
+            <Name lang="en">paired box 8</Name>
+            <Symbol>PAX8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142991">
+                <Source>Reactome</Source>
+                <Reference>Q06710</Reference>
+              </ExternalReference>
+              <ExternalReference id="59763">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125618</Reference>
+              </ExternalReference>
+              <ExternalReference id="32132">
+                <Source>Genatlas</Source>
+                <Reference>PAX8</Reference>
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+              <ExternalReference id="32130">
+                <Source>HGNC</Source>
+                <Reference>8622</Reference>
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+              <ExternalReference id="32129">
+                <Source>OMIM</Source>
+                <Reference>167415</Reference>
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+              <ExternalReference id="33679">
+                <Source>SwissProt</Source>
+                <Reference>Q06710</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37699">
+                <GeneLocus>2q14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12654">
+      <OrphaCode>95699</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95699</ExpertLink>
+      <Name lang="en">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15124">
+            <Name lang="en">cytochrome p450 oxidoreductase</Name>
+            <Symbol>POR</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CYPOR</Synonym>
+              <Synonym lang="en">FLJ26468</Synonym>
+              <Synonym lang="en">NADPH--hemoprotein reductase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100287">
+                <Source>Reactome</Source>
+                <Reference>P16435</Reference>
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+              <ExternalReference id="59159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127948</Reference>
+              </ExternalReference>
+              <ExternalReference id="25027">
+                <Source>Genatlas</Source>
+                <Reference>POR</Reference>
+              </ExternalReference>
+              <ExternalReference id="25025">
+                <Source>HGNC</Source>
+                <Reference>9208</Reference>
+              </ExternalReference>
+              <ExternalReference id="25024">
+                <Source>OMIM</Source>
+                <Reference>124015</Reference>
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+              <ExternalReference id="33235">
+                <Source>SwissProt</Source>
+                <Reference>P16435</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="23239">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="12653">
+      <OrphaCode>95698</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95698</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15839">
+            <Name lang="en">cytochrome P450 family 21 subfamily A member 2</Name>
+            <Symbol>CYP21A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CA21H</Synonym>
+              <Synonym lang="en">CAH1</Synonym>
+              <Synonym lang="en">CPS1</Synonym>
+              <Synonym lang="en">P450c21B</Synonym>
+              <Synonym lang="en">Steroid 21-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193635">
+                <Source>IUPHAR</Source>
+                <Reference>1364</Reference>
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+              <ExternalReference id="59641">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000231852</Reference>
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+              <ExternalReference id="28434">
+                <Source>Genatlas</Source>
+                <Reference>CYP21A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28436">
+                <Source>HGNC</Source>
+                <Reference>2600</Reference>
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+              <ExternalReference id="50807">
+                <Source>OMIM</Source>
+                <Reference>613815</Reference>
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+              <ExternalReference id="59642">
+                <Source>Reactome</Source>
+                <Reference>P08686</Reference>
+              </ExternalReference>
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+                <Source>SwissProt</Source>
+                <Reference>P08686</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12620">
+      <OrphaCode>95496</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95496</ExpertLink>
+      <Name lang="en">Pituitary stalk interruption syndrome</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28453850[PMID]</SourceOfValidation>
+          <Gene id="19489">
+            <Name lang="en">WD repeat domain 11</Name>
+            <Symbol>WDR11</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DR11</Synonym>
+              <Synonym lang="en">FLJ10506</Synonym>
+              <Synonym lang="en">HH14</Synonym>
+              <Synonym lang="en">KIAA1351</Synonym>
+              <Synonym lang="en">SRI1</Synonym>
+              <Synonym lang="en">WDR15</Synonym>
+              <Synonym lang="en">sensitization to ricin complex subunit 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58431">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120008</Reference>
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+              <ExternalReference id="49342">
+                <Source>Genatlas</Source>
+                <Reference>WDR11</Reference>
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+              <ExternalReference id="49343">
+                <Source>HGNC</Source>
+                <Reference>13831</Reference>
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+              <ExternalReference id="49344">
+                <Source>OMIM</Source>
+                <Reference>606417</Reference>
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+              <ExternalReference id="49345">
+                <Source>SwissProt</Source>
+                <Reference>Q9BZH6</Reference>
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+            <LocusList count="1">
+              <Locus id="25739">
+                <GeneLocus>10q26.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28402530[PMID]</SourceOfValidation>
+          <Gene id="25795">
+            <Name lang="en">roundabout guidance receptor 1</Name>
+            <Symbol>ROBO1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DUTT1</Synonym>
+              <Synonym lang="en">FLJ21882</Synonym>
+              <Synonym lang="en">SAX3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147358">
+                <Source>HGNC</Source>
+                <Reference>10249</Reference>
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+              <ExternalReference id="147359">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169855</Reference>
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+              <ExternalReference id="147360">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6N7</Reference>
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+              <ExternalReference id="147361">
+                <Source>OMIM</Source>
+                <Reference>602430</Reference>
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+              <ExternalReference id="147362">
+                <Source>Genatlas</Source>
+                <Reference>ROBO1</Reference>
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+              <ExternalReference id="147363">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6N7</Reference>
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+                <GeneLocus>3p12.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28453850[PMID]</SourceOfValidation>
+          <Gene id="15146">
+            <Name lang="en">prokineticin receptor 2</Name>
+            <Symbol>PROKR2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GPR73b</Synonym>
+              <Synonym lang="en">GPRg2</Synonym>
+              <Synonym lang="en">PKR2</Synonym>
+              <Synonym lang="en">dJ680N4.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58429">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101292</Reference>
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+              <ExternalReference id="36596">
+                <Source>Genatlas</Source>
+                <Reference>PROKR2</Reference>
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+              <ExternalReference id="25129">
+                <Source>HGNC</Source>
+                <Reference>15836</Reference>
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+              <ExternalReference id="82749">
+                <Source>IUPHAR</Source>
+                <Reference>336</Reference>
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+              <ExternalReference id="25128">
+                <Source>OMIM</Source>
+                <Reference>607123</Reference>
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+              <ExternalReference id="58430">
+                <Source>Reactome</Source>
+                <Reference>Q8NFJ6</Reference>
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+              <ExternalReference id="33257">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFJ6</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21270112[PMID]</SourceOfValidation>
+          <Gene id="16192">
+            <Name lang="en">HESX homeobox 1</Name>
+            <Symbol>HESX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ANF</Synonym>
+              <Synonym lang="en">RPX</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143259">
+                <Source>Reactome</Source>
+                <Reference>Q9UBX0</Reference>
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+              <ExternalReference id="58337">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163666</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4877</Reference>
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+              <ExternalReference id="30149">
+                <Source>OMIM</Source>
+                <Reference>601802</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UBX0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21270112[PMID]</SourceOfValidation>
+          <Gene id="16786">
+            <Name lang="en">LIM homeobox 4</Name>
+            <Symbol>LHX4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Gsh4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143913">
+                <Source>Reactome</Source>
+                <Reference>Q969G2</Reference>
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+              <ExternalReference id="59465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121454</Reference>
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+              <ExternalReference id="34929">
+                <Source>Genatlas</Source>
+                <Reference>LHX4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21734</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602146</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26529631[PMID]</SourceOfValidation>
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+              <Synonym lang="en">CDON1</Synonym>
+              <Synonym lang="en">Ihog</Synonym>
+              <Synonym lang="en">ORCAM</Synonym>
+              <Synonym lang="en">cell adhesion molecule-related/down-regulated by oncogenes</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59727">
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+                <Reference>ENSG00000064309</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">forkhead box A2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q9Y261</Reference>
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+                <Reference>600288</Reference>
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+              <Synonym lang="en">pituitary transcript factor 1</Synonym>
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+              <ExternalReference id="32058">
+                <Source>OMIM</Source>
+                <Reference>600037</Reference>
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+            <LocusList count="1">
+              <Locus id="9561">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25871839[PMID]</SourceOfValidation>
+          <Gene id="16786">
+            <Name lang="en">LIM homeobox 4</Name>
+            <Symbol>LHX4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Gsh4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143913">
+                <Source>Reactome</Source>
+                <Reference>Q969G2</Reference>
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+              <ExternalReference id="59465">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121454</Reference>
+              </ExternalReference>
+              <ExternalReference id="34929">
+                <Source>Genatlas</Source>
+                <Reference>LHX4</Reference>
+              </ExternalReference>
+              <ExternalReference id="34928">
+                <Source>HGNC</Source>
+                <Reference>21734</Reference>
+              </ExternalReference>
+              <ExternalReference id="34930">
+                <Source>OMIM</Source>
+                <Reference>602146</Reference>
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+              <ExternalReference id="34931">
+                <Source>SwissProt</Source>
+                <Reference>Q969G2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>1q25.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20685856[PMID]</SourceOfValidation>
+          <Gene id="16803">
+            <Name lang="en">GLI family zinc finger 2</Name>
+            <Symbol>GLI2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HPE9</Synonym>
+              <Synonym lang="en">THP1</Synonym>
+              <Synonym lang="en">THP2</Synonym>
+              <Synonym lang="en">tax helper protein 1</Synonym>
+              <Synonym lang="en">tax helper protein 2</Synonym>
+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074047</Reference>
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+              <ExternalReference id="35013">
+                <Source>Genatlas</Source>
+                <Reference>GLI2</Reference>
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+              <ExternalReference id="35014">
+                <Source>HGNC</Source>
+                <Reference>4318</Reference>
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+                <Source>OMIM</Source>
+                <Reference>165230</Reference>
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+              <ExternalReference id="97249">
+                <Source>Reactome</Source>
+                <Reference>P10070</Reference>
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+              <ExternalReference id="35015">
+                <Source>SwissProt</Source>
+                <Reference>P10070</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="12592">
+      <OrphaCode>95433</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95433</ExpertLink>
+      <Name lang="en">Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26669662[PMID]</SourceOfValidation>
+          <Gene id="16647">
+            <Name lang="en">peroxisomal biogenesis factor 6</Name>
+            <Symbol>PEX6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PAF-2</Synonym>
+              <Synonym lang="en">PXAAA1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57021">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124587</Reference>
+              </ExternalReference>
+              <ExternalReference id="32282">
+                <Source>Genatlas</Source>
+                <Reference>PEX6</Reference>
+              </ExternalReference>
+              <ExternalReference id="32284">
+                <Source>HGNC</Source>
+                <Reference>8859</Reference>
+              </ExternalReference>
+              <ExternalReference id="32283">
+                <Source>OMIM</Source>
+                <Reference>601498</Reference>
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+              <ExternalReference id="33751">
+                <Source>SwissProt</Source>
+                <Reference>Q13608</Reference>
+              </ExternalReference>
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+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12593">
+      <OrphaCode>95434</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95434</ExpertLink>
+      <Name lang="en">Autosomal recessive cerebellar ataxia-movement disorder syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33764426[PMID]</SourceOfValidation>
+          <Gene id="30676">
+            <Name lang="en">VPS41 subunit of HOPS complex</Name>
+            <Symbol>VPS41</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="4">
+              <ExternalReference id="200306">
+                <Source>HGNC</Source>
+                <Reference>12713</Reference>
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+              <ExternalReference id="200905">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006715</Reference>
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+              <ExternalReference id="200906">
+                <Source>OMIM</Source>
+                <Reference>605485</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49754</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29604224[PMID]</SourceOfValidation>
+          <Gene id="29938">
+            <Name lang="en">vacuolar protein sorting 13 homolog D</Name>
+            <Symbol>VPS13D</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ10619</Synonym>
+              <Synonym lang="en">KIAA0453</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="193401">
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+              <ExternalReference id="193400">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000048707</Reference>
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+              <ExternalReference id="189502">
+                <Source>HGNC</Source>
+                <Reference>23595</Reference>
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+              <ExternalReference id="201551">
+                <Source>SwissProt</Source>
+                <Reference>Q5THJ4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12582">
+      <OrphaCode>95232</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=95232</ExpertLink>
+      <Name lang="en">Lissencephaly due to LIS1 mutation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18285425[PMID]</SourceOfValidation>
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+            <Name lang="en">platelet activating factor acetylhydrolase 1b regulatory subunit 1</Name>
+            <Symbol>PAFAH1B1</Symbol>
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+              <Synonym lang="en">LIS1</Synonym>
+              <Synonym lang="en">NudF</Synonym>
+              <Synonym lang="en">PAFAH</Synonym>
+              <Synonym lang="en">lissencephaly-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58740">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007168</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PAFAH1B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8574</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601545</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P43034</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P43034</Reference>
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+      <Name lang="en">Hepatoerythropoietic porphyria</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24175354[PMID]_21668429[PMID]_17240319[PMID]</SourceOfValidation>
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+            <Name lang="en">uroporphyrinogen decarboxylase</Name>
+            <Symbol>UROD</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126088</Reference>
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+                <Source>Genatlas</Source>
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+      <Name lang="en">COG8-CDG</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000213380</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Cerebellar ataxia, Cayman type</Name>
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+            <Name lang="en">ATCAY kinesin light chain interacting caytaxin</Name>
+            <Symbol>ATCAY</Symbol>
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+              <Synonym lang="en">BNIP-H</Synonym>
+              <Synonym lang="en">Cayman ataxia</Synonym>
+              <Synonym lang="en">caytaxin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinocerebellar ataxia with axonal neuropathy type 1</Name>
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+            <Name lang="en">tyrosyl-DNA phosphodiesterase 1</Name>
+            <Symbol>TDP1</Symbol>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000042088</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TDP1</Reference>
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+                <Reference>18884</Reference>
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+                <Reference>607198</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="12565">
+      <OrphaCode>94125</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94125</ExpertLink>
+      <Name lang="en">Recessive mitochondrial ataxia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15824347[PMID]</SourceOfValidation>
+          <Gene id="15118">
+            <Name lang="en">DNA polymerase gamma, catalytic subunit</Name>
+            <Symbol>POLG</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">POLG1</Synonym>
+              <Synonym lang="en">POLGA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58092">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140521</Reference>
+              </ExternalReference>
+              <ExternalReference id="24994">
+                <Source>Genatlas</Source>
+                <Reference>POLG</Reference>
+              </ExternalReference>
+              <ExternalReference id="24996">
+                <Source>HGNC</Source>
+                <Reference>9179</Reference>
+              </ExternalReference>
+              <ExternalReference id="24995">
+                <Source>OMIM</Source>
+                <Reference>174763</Reference>
+              </ExternalReference>
+              <ExternalReference id="32809">
+                <Source>SwissProt</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+              <ExternalReference id="143949">
+                <Source>Reactome</Source>
+                <Reference>P54098</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39367">
+                <GeneLocus>15q26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12567">
+      <OrphaCode>94147</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94147</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 7</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301317[PMID]</SourceOfValidation>
+          <Gene id="15340">
+            <Name lang="en">ataxin 7</Name>
+            <Symbol>ATXN7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ADCAII</Synonym>
+              <Synonym lang="en">OPCA3</Synonym>
+              <Synonym lang="en">SGF73</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84568">
+                <Source>Reactome</Source>
+                <Reference>O15265</Reference>
+              </ExternalReference>
+              <ExternalReference id="33897">
+                <Source>SwissProt</Source>
+                <Reference>O15265</Reference>
+              </ExternalReference>
+              <ExternalReference id="59760">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163635</Reference>
+              </ExternalReference>
+              <ExternalReference id="26049">
+                <Source>Genatlas</Source>
+                <Reference>ATXN7</Reference>
+              </ExternalReference>
+              <ExternalReference id="26051">
+                <Source>HGNC</Source>
+                <Reference>10560</Reference>
+              </ExternalReference>
+              <ExternalReference id="26050">
+                <Source>OMIM</Source>
+                <Reference>607640</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25959">
+                <GeneLocus>3p14.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12570">
+      <OrphaCode>94150</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94150</ExpertLink>
+      <Name lang="en">Anonychia congenita totalis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17914448[PMID]</SourceOfValidation>
+          <Gene id="15234">
+            <Name lang="en">R-spondin 4</Name>
+            <Symbol>RSPO4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">dJ824F16.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59299">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101282</Reference>
+              </ExternalReference>
+              <ExternalReference id="36617">
+                <Source>Genatlas</Source>
+                <Reference>RSPO4</Reference>
+              </ExternalReference>
+              <ExternalReference id="25541">
+                <Source>HGNC</Source>
+                <Reference>16175</Reference>
+              </ExternalReference>
+              <ExternalReference id="25540">
+                <Source>OMIM</Source>
+                <Reference>610573</Reference>
+              </ExternalReference>
+              <ExternalReference id="87959">
+                <Source>Reactome</Source>
+                <Reference>Q2I0M5</Reference>
+              </ExternalReference>
+              <ExternalReference id="33792">
+                <Source>SwissProt</Source>
+                <Reference>Q2I0M5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7029">
+                <GeneLocus>20p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12545">
+      <OrphaCode>94064</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94064</ExpertLink>
+      <Name lang="en">Deafness-infertility syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17098888[PMID]</SourceOfValidation>
+          <Gene id="17305">
+            <Name lang="en">cation channel sperm associated 2</Name>
+            <Symbol>CATSPER2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59750">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000166762</Reference>
+              </ExternalReference>
+              <ExternalReference id="99989">
+                <Source>Genatlas</Source>
+                <Reference>CATSPER2</Reference>
+              </ExternalReference>
+              <ExternalReference id="36752">
+                <Source>HGNC</Source>
+                <Reference>18810</Reference>
+              </ExternalReference>
+              <ExternalReference id="83072">
+                <Source>IUPHAR</Source>
+                <Reference>389</Reference>
+              </ExternalReference>
+              <ExternalReference id="36751">
+                <Source>OMIM</Source>
+                <Reference>607249</Reference>
+              </ExternalReference>
+              <ExternalReference id="83071">
+                <Source>Reactome</Source>
+                <Reference>Q96P56</Reference>
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+              <ExternalReference id="36753">
+                <Source>SwissProt</Source>
+                <Reference>Q96P56</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18897">
+                <GeneLocus>15q15.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17098888[PMID]</SourceOfValidation>
+          <Gene id="17280">
+            <Name lang="en">stereocilin</Name>
+            <Symbol>STRC</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="36607">
+                <Source>SwissProt</Source>
+                <Reference>Q7RTU9</Reference>
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+              <ExternalReference id="59624">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000242866</Reference>
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+              <ExternalReference id="36605">
+                <Source>Genatlas</Source>
+                <Reference>STRC</Reference>
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+              <ExternalReference id="36604">
+                <Source>HGNC</Source>
+                <Reference>16035</Reference>
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+              <ExternalReference id="36606">
+                <Source>OMIM</Source>
+                <Reference>606440</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>15q15.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12544">
+      <OrphaCode>94063</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94063</ExpertLink>
+      <Name lang="en">12q14 microdeletion syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>17220210[PMID]</SourceOfValidation>
+          <Gene id="16349">
+            <Name lang="en">LEM domain containing 3</Name>
+            <Symbol>LEMD3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAN antigen 1</Synonym>
+              <Synonym lang="en">MAN1</Synonym>
+              <Synonym lang="en">inner nuclear membrane protein Man1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58125">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174106</Reference>
+              </ExternalReference>
+              <ExternalReference id="30893">
+                <Source>Genatlas</Source>
+                <Reference>LEMD3</Reference>
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+              <ExternalReference id="30891">
+                <Source>HGNC</Source>
+                <Reference>28887</Reference>
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+              <ExternalReference id="30890">
+                <Source>OMIM</Source>
+                <Reference>607844</Reference>
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+              <ExternalReference id="82979">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2U8</Reference>
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+              <ExternalReference id="33414">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2U8</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28407409[PMID]</SourceOfValidation>
+          <Gene id="19582">
+            <Name lang="en">high mobility group AT-hook 2</Name>
+            <Symbol>HMGA2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BABL</Synonym>
+              <Synonym lang="en">LIPO</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="50080">
+                <Source>Genatlas</Source>
+                <Reference>HMGA2</Reference>
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+              <ExternalReference id="50081">
+                <Source>HGNC</Source>
+                <Reference>5009</Reference>
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+              <ExternalReference id="50083">
+                <Source>OMIM</Source>
+                <Reference>600698</Reference>
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+              <ExternalReference id="84574">
+                <Source>Reactome</Source>
+                <Reference>P52926</Reference>
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+              <ExternalReference id="50082">
+                <Source>SwissProt</Source>
+                <Reference>P52926</Reference>
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+              <ExternalReference id="59748">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149948</Reference>
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+                <GeneLocus>12q14.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12546">
+      <OrphaCode>94065</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94065</ExpertLink>
+      <Name lang="en">15q24 microdeletion syndrome</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>27399968[PMID]</SourceOfValidation>
+          <Gene id="24902">
+            <Name lang="en">SIN3 transcription regulator family member A</Name>
+            <Symbol>SIN3A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP434K2235</Synonym>
+              <Synonym lang="en">KIAA0700</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="132442">
+                <Source>OMIM</Source>
+                <Reference>607776</Reference>
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+              <ExternalReference id="133166">
+                <Source>SwissProt</Source>
+                <Reference>Q96ST3</Reference>
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+              <ExternalReference id="133816">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169375</Reference>
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+              <ExternalReference id="134528">
+                <Source>Reactome</Source>
+                <Reference>Q96ST3</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SIN3A</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19353</Reference>
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+                <GeneLocus>15q24.2</GeneLocus>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12548">
+      <OrphaCode>94068</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94068</ExpertLink>
+      <Name lang="en">Spondyloepiphyseal dysplasia congenita</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26030151[PMID]</SourceOfValidation>
+          <Gene id="15769">
+            <Name lang="en">collagen type II alpha 1 chain</Name>
+            <Symbol>COL2A1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">STL1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57721">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139219</Reference>
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+              <ExternalReference id="28099">
+                <Source>Genatlas</Source>
+                <Reference>COL2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28101">
+                <Source>HGNC</Source>
+                <Reference>2200</Reference>
+              </ExternalReference>
+              <ExternalReference id="28100">
+                <Source>OMIM</Source>
+                <Reference>120140</Reference>
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+              <ExternalReference id="57722">
+                <Source>Reactome</Source>
+                <Reference>P02458</Reference>
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+              <ExternalReference id="32741">
+                <Source>SwissProt</Source>
+                <Reference>P02458</Reference>
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+                <GeneLocus>12q13.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12553">
+      <OrphaCode>94083</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94083</ExpertLink>
+      <Name lang="en">Partington syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11889467[PMID]</SourceOfValidation>
+          <Gene id="15955">
+            <Name lang="en">aristaless related homeobox</Name>
+            <Symbol>ARX</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CT121</Synonym>
+              <Synonym lang="en">EIEE1</Synonym>
+              <Synonym lang="en">ISSX</Synonym>
+              <Synonym lang="en">cancer/testis antigen 121</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>SwissProt</Source>
+                <Reference>Q96QS3</Reference>
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+              <ExternalReference id="57759">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004848</Reference>
+              </ExternalReference>
+              <ExternalReference id="28975">
+                <Source>Genatlas</Source>
+                <Reference>ARX</Reference>
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+              <ExternalReference id="28973">
+                <Source>HGNC</Source>
+                <Reference>18060</Reference>
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+              <ExternalReference id="28972">
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+                <Reference>300382</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12557">
+      <OrphaCode>94088</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=94088</ExpertLink>
+      <Name lang="en">Hereditary renal hypouricemia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>21148271[PMID]_23386035[PMID]</SourceOfValidation>
+          <Gene id="17674">
+            <Name lang="en">solute carrier family 22 member 12</Name>
+            <Symbol>SLC22A12</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">OAT4L</Synonym>
+              <Synonym lang="en">RST</Synonym>
+              <Synonym lang="en">URAT1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>607096</Reference>
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+              <ExternalReference id="59754">
+                <Source>Reactome</Source>
+                <Reference>Q96S37</Reference>
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+              <ExternalReference id="38855">
+                <Source>SwissProt</Source>
+                <Reference>Q96S37</Reference>
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+              <ExternalReference id="190360">
+                <Source>IUPHAR</Source>
+                <Reference>1031</Reference>
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+              <ExternalReference id="59753">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197891</Reference>
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+              <ExternalReference id="38852">
+                <Source>Genatlas</Source>
+                <Reference>SLC22A12</Reference>
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+              <ExternalReference id="38853">
+                <Source>HGNC</Source>
+                <Reference>17989</Reference>
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+            <LocusList count="1">
+              <Locus id="60129">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19926891[PMID]_21810765[PMID]</SourceOfValidation>
+          <Gene id="17890">
+            <Name lang="en">solute carrier family 2 member 9</Name>
+            <Symbol>SLC2A9</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GLUTX</Synonym>
+              <Synonym lang="en">Glut9</Synonym>
+              <Synonym lang="en">URATv1</Synonym>
+              <Synonym lang="en">urate voltage-driven efflux transporter 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109667</Reference>
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+              <ExternalReference id="40098">
+                <Source>Genatlas</Source>
+                <Reference>SLC2A9</Reference>
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+              <ExternalReference id="40099">
+                <Source>HGNC</Source>
+                <Reference>13446</Reference>
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+              <ExternalReference id="40100">
+                <Source>OMIM</Source>
+                <Reference>606142</Reference>
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+              <ExternalReference id="59752">
+                <Source>Reactome</Source>
+                <Reference>Q9NRM0</Reference>
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+              <ExternalReference id="40101">
+                <Source>SwissProt</Source>
+                <Reference>Q9NRM0</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>882</Reference>
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+      <Name lang="en">Pseudohypoparathyroidism type 1B</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
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+            <Name lang="en">GNAS complex locus</Name>
+            <Symbol>GNAS</Symbol>
+            <SynonymList count="8">
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+              <Synonym lang="en">GNASXL</Synonym>
+              <Synonym lang="en">GPSA</Synonym>
+              <Synonym lang="en">NESP</Synonym>
+              <Synonym lang="en">NESP55</Synonym>
+              <Synonym lang="en">SCG6</Synonym>
+              <Synonym lang="en">SgVI</Synonym>
+              <Synonym lang="en">secretogranin VI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="82607">
+                <Source>SwissProt</Source>
+                <Reference>P63092</Reference>
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+              <ExternalReference id="95207">
+                <Source>SwissProt</Source>
+                <Reference>P84996</Reference>
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+              <ExternalReference id="95206">
+                <Source>SwissProt</Source>
+                <Reference>Q5JWF2</Reference>
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+              <ExternalReference id="57099">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087460</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GNAS</Reference>
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+              <ExternalReference id="29933">
+                <Source>HGNC</Source>
+                <Reference>4392</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="126516">
+                <Source>Reactome</Source>
+                <Reference>P63092</Reference>
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+              <ExternalReference id="95208">
+                <Source>SwissProt</Source>
+                <Reference>O95467</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17721">
+            <Name lang="en">syntaxin 16</Name>
+            <Symbol>STX16</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59755">
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+                <Reference>ENSG00000124222</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>STX16</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11431</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603666</Reference>
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+              <ExternalReference id="82613">
+                <Source>SwissProt</Source>
+                <Reference>O14662</Reference>
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+              <ExternalReference id="100319">
+                <Source>Reactome</Source>
+                <Reference>O14662</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Kleefstra syndrome due to 9q34 microdeletion</Name>
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+              <Synonym lang="en">FLJ12879</Synonym>
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+              <Synonym lang="en">KIAA1876</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091137</Reference>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=597939</ExpertLink>
+      <Name lang="en">Euthyroid dysprealbuminemic hyperthyroxinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>1979335[PMID]</SourceOfValidation>
+          <Gene id="15674">
+            <Name lang="en">transthyretin</Name>
+            <Symbol>TTR</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CTS</Synonym>
+              <Synonym lang="en">HsT2651</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193638">
+                <Source>IUPHAR</Source>
+                <Reference>2851</Reference>
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+              <ExternalReference id="59468">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118271</Reference>
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+              <ExternalReference id="27657">
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+                <Reference>TTR</Reference>
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+              <ExternalReference id="27659">
+                <Source>HGNC</Source>
+                <Reference>12405</Reference>
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+                <Reference>176300</Reference>
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+              <ExternalReference id="59469">
+                <Source>Reactome</Source>
+                <Reference>P02766</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02766</Reference>
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+                <GeneLocus>18q12.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12394">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93552</ExpertLink>
+      <Name lang="en">Pediatric systemic lupus erythematosus</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24023622[PMID]_17804842[PMID]</SourceOfValidation>
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+            <Name lang="en">signal transducer and activator of transcription 4</Name>
+            <Symbol>STAT4</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138378</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>STAT4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11365</Reference>
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+                <Reference>600558</Reference>
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+                <Reference>Q14765</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14765</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24023622[PMID]</SourceOfValidation>
+          <Gene id="22426">
+            <Name lang="en">secreted phosphoprotein 1</Name>
+            <Symbol>SPP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BSPI</Synonym>
+              <Synonym lang="en">ETA-1</Synonym>
+              <Synonym lang="en">Early T-lymphocyte activation 1</Synonym>
+              <Synonym lang="en">early T-lymphocyte activation 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000118785</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SPP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11255</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19329491[PMID]</SourceOfValidation>
+          <Gene id="22427">
+            <Name lang="en">interleukin 1 receptor associated kinase 1</Name>
+            <Symbol>IRAK1</Symbol>
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+              <Synonym lang="en">IRAK</Synonym>
+              <Synonym lang="en">pelle</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">methenyltetrahydrofolate synthetase</Name>
+            <Symbol>MTHFS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">5,10-methenyltetrahydrofolate synthetase</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">AFib amyloidosis</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182450</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23728178[PMID]</SourceOfValidation>
+          <Gene id="20682">
+            <Name lang="en">complement factor H related 1</Name>
+            <Symbol>CFHR1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CFHL</Synonym>
+              <Synonym lang="en">FHR1</Synonym>
+              <Synonym lang="en">H36-1</Synonym>
+              <Synonym lang="en">H36-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244414</Reference>
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+              <ExternalReference id="54993">
+                <Source>Genatlas</Source>
+                <Reference>CFHR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="54991">
+                <Source>HGNC</Source>
+                <Reference>4888</Reference>
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+              <ExternalReference id="54992">
+                <Source>OMIM</Source>
+                <Reference>134371</Reference>
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+              <ExternalReference id="54994">
+                <Source>SwissProt</Source>
+                <Reference>Q03591</Reference>
+              </ExternalReference>
+              <ExternalReference id="143815">
+                <Source>Reactome</Source>
+                <Reference>Q03591</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39093">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="12382">
+      <OrphaCode>93474</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93474</ExpertLink>
+      <Name lang="en">Scheie syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8680403[PMID]</SourceOfValidation>
+          <Gene id="16240">
+            <Name lang="en">alpha-L-iduronidase</Name>
+            <Symbol>IDUA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MPS1</Synonym>
+              <Synonym lang="en">MPSI</Synonym>
+              <Synonym lang="en">mucopolysaccharidosis type I</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59692">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127415</Reference>
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+              <ExternalReference id="30377">
+                <Source>Genatlas</Source>
+                <Reference>IDUA</Reference>
+              </ExternalReference>
+              <ExternalReference id="30379">
+                <Source>HGNC</Source>
+                <Reference>5391</Reference>
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+              <ExternalReference id="30378">
+                <Source>OMIM</Source>
+                <Reference>252800</Reference>
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+              <ExternalReference id="82958">
+                <Source>Reactome</Source>
+                <Reference>P35475</Reference>
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+              <ExternalReference id="33304">
+                <Source>SwissProt</Source>
+                <Reference>P35475</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12383">
+      <OrphaCode>93476</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93476</ExpertLink>
+      <Name lang="en">Hurler-Scheie syndrome</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>8680403[PMID]</SourceOfValidation>
+          <Gene id="16240">
+            <Name lang="en">alpha-L-iduronidase</Name>
+            <Symbol>IDUA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MPS1</Synonym>
+              <Synonym lang="en">MPSI</Synonym>
+              <Synonym lang="en">mucopolysaccharidosis type I</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59692">
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+                <Reference>ENSG00000127415</Reference>
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+              <ExternalReference id="30377">
+                <Source>Genatlas</Source>
+                <Reference>IDUA</Reference>
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+              <ExternalReference id="30379">
+                <Source>HGNC</Source>
+                <Reference>5391</Reference>
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+              <ExternalReference id="30378">
+                <Source>OMIM</Source>
+                <Reference>252800</Reference>
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+              <ExternalReference id="82958">
+                <Source>Reactome</Source>
+                <Reference>P35475</Reference>
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+              <ExternalReference id="33304">
+                <Source>SwissProt</Source>
+                <Reference>P35475</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12381">
+      <OrphaCode>93473</OrphaCode>
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+      <Name lang="en">Hurler syndrome</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8680403[PMID]</SourceOfValidation>
+          <Gene id="16240">
+            <Name lang="en">alpha-L-iduronidase</Name>
+            <Symbol>IDUA</Symbol>
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+              <Synonym lang="en">MPSI</Synonym>
+              <Synonym lang="en">mucopolysaccharidosis type I</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59692">
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+                <Reference>ENSG00000127415</Reference>
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+              <ExternalReference id="30377">
+                <Source>Genatlas</Source>
+                <Reference>IDUA</Reference>
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+              <ExternalReference id="30379">
+                <Source>HGNC</Source>
+                <Reference>5391</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P35475</Reference>
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+              <ExternalReference id="33304">
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+                <Reference>P35475</Reference>
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+      <Name lang="en">Juvenile sialidosis type 2</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">neuraminidase 1</Name>
+            <Symbol>NEU1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q99519</Reference>
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+      <Name lang="en">Congenital sialidosis type 2</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q8WVP7</Reference>
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+            <LocusList count="1">
+              <Locus id="9139">
+                <GeneLocus>7q36.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+    <Disorder id="29926">
+      <OrphaCode>599418</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=599418</ExpertLink>
+      <Name lang="en">Hereditary angioedema with normal C1Inh not related to F12 or PLG variant</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28601681[PMID]</SourceOfValidation>
+          <Gene id="28060">
+            <Name lang="en">angiopoietin 1</Name>
+            <Symbol>ANGPT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Ang1</Synonym>
+              <Synonym lang="en">KIAA0003</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="163031">
+                <Source>Reactome</Source>
+                <Reference>Q15389</Reference>
+              </ExternalReference>
+              <ExternalReference id="163028">
+                <Source>HGNC</Source>
+                <Reference>484</Reference>
+              </ExternalReference>
+              <ExternalReference id="163029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154188</Reference>
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+              <ExternalReference id="163030">
+                <Source>SwissProt</Source>
+                <Reference>Q15389</Reference>
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+              <ExternalReference id="163032">
+                <Source>IUPHAR</Source>
+                <Reference>4867</Reference>
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+              <ExternalReference id="163033">
+                <Source>OMIM</Source>
+                <Reference>601667</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33508266[PMID]</SourceOfValidation>
+          <Gene id="30607">
+            <Name lang="en">myoferlin</Name>
+            <Symbol>MYOF</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1207</Synonym>
+              <Synonym lang="en">fer-1-like family member 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="194806">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138119</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604603</Reference>
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+              <ExternalReference id="200901">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3656</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33059692[PMID]</SourceOfValidation>
+          <Gene id="16311">
+            <Name lang="en">kininogen 1</Name>
+            <Symbol>KNG1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BK</Synonym>
+              <Synonym lang="en">alpha-2-thiol proteinase inhibitor</Synonym>
+              <Synonym lang="en">bradykinin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58882">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113889</Reference>
+              </ExternalReference>
+              <ExternalReference id="37502">
+                <Source>Genatlas</Source>
+                <Reference>KNG1</Reference>
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+              <ExternalReference id="30714">
+                <Source>HGNC</Source>
+                <Reference>6383</Reference>
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+              <ExternalReference id="39833">
+                <Source>OMIM</Source>
+                <Reference>612358</Reference>
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+              <ExternalReference id="58883">
+                <Source>Reactome</Source>
+                <Reference>P01042</Reference>
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+              <ExternalReference id="33376">
+                <Source>SwissProt</Source>
+                <Reference>P01042</Reference>
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+                <GeneLocus>3q27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33799813[PMID]</SourceOfValidation>
+          <Gene id="30608">
+            <Name lang="en">heparan sulfate-glucosamine 3-sulfotransferase 6</Name>
+            <Symbol>HS3ST6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="194386">
+                <Source>HGNC</Source>
+                <Reference>14178</Reference>
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+              <ExternalReference id="196353">
+                <Source>OMIM</Source>
+                <Reference>619210</Reference>
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+              <ExternalReference id="200897">
+                <Source>SwissProt</Source>
+                <Reference>Q96QI5</Reference>
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+              <ExternalReference id="196352">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162040</Reference>
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12326">
+      <OrphaCode>93404</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93404</ExpertLink>
+      <Name lang="en">Syndactyly type 3</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>12457340[PMID]_14729836[PMID]</SourceOfValidation>
+          <Gene id="16125">
+            <Name lang="en">gap junction protein alpha 1</Name>
+            <Symbol>GJA1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CX43</Synonym>
+              <Synonym lang="en">ODD</Synonym>
+              <Synonym lang="en">ODOD</Synonym>
+              <Synonym lang="en">SDTY3</Synonym>
+              <Synonym lang="en">connexin 43</Synonym>
+              <Synonym lang="en">oculodentodigital dysplasia (syndactyly type III)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152661</Reference>
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+              <ExternalReference id="29829">
+                <Source>Genatlas</Source>
+                <Reference>GJA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4274</Reference>
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+                <Source>OMIM</Source>
+                <Reference>121014</Reference>
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+              <ExternalReference id="57354">
+                <Source>Reactome</Source>
+                <Reference>P17302</Reference>
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+              <ExternalReference id="33140">
+                <Source>SwissProt</Source>
+                <Reference>P17302</Reference>
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+              <ExternalReference id="193603">
+                <Source>IUPHAR</Source>
+                <Reference>728</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="12328">
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+      <Name lang="en">Syndactyly type 5</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>17236141[PMID]</SourceOfValidation>
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+            <Name lang="en">homeobox D13</Name>
+            <Symbol>HOXD13</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="57402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128714</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>5136</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35453</Reference>
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+      <Name lang="en">Brachydactyly-syndactyly, Zhao type</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>HOXD13</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128714</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HOXD13</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5136</Reference>
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+                <Source>OMIM</Source>
+                <Reference>142989</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P35453</Reference>
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+      <Name lang="en">Spondyloepimetaphyseal dysplasia with multiple dislocations</Name>
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+            <Name lang="en">kinesin family member 22</Name>
+            <Symbol>KIF22</Symbol>
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+              <Synonym lang="en">Kid</Synonym>
+              <Synonym lang="en">OBP-1</Synonym>
+              <Synonym lang="en">OBP-2</Synonym>
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+                <Reference>ENSG00000079616</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6391</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14807</Reference>
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+            <Name lang="en">exocyst complex component 6B</Name>
+            <Symbol>EXOC6B</Symbol>
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+              <Synonym lang="en">KIAA0919</Synonym>
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+                <Reference>ENSG00000144036</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y2D4</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>B3GALT6</Symbol>
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+                <Reference>ENSG00000176022</Reference>
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+                <Reference>Q96L58</Reference>
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+      <Name lang="en">Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+          <SourceOfValidation>19110212[PMID]</SourceOfValidation>
+          <Gene id="17982">
+            <Name lang="en">discoidin domain receptor tyrosine kinase 2</Name>
+            <Symbol>DDR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TKT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59684">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162733</Reference>
+              </ExternalReference>
+              <ExternalReference id="40607">
+                <Source>Genatlas</Source>
+                <Reference>DDR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="40608">
+                <Source>HGNC</Source>
+                <Reference>2731</Reference>
+              </ExternalReference>
+              <ExternalReference id="83126">
+                <Source>IUPHAR</Source>
+                <Reference>1844</Reference>
+              </ExternalReference>
+              <ExternalReference id="40609">
+                <Source>OMIM</Source>
+                <Reference>191311</Reference>
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+              <ExternalReference id="83125">
+                <Source>Reactome</Source>
+                <Reference>Q16832</Reference>
+              </ExternalReference>
+              <ExternalReference id="40610">
+                <Source>SwissProt</Source>
+                <Reference>Q16832</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21711">
+                <GeneLocus>1q23.3</GeneLocus>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="12288">
+      <OrphaCode>93357</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93357</ExpertLink>
+      <Name lang="en">SPONASTRIME dysplasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30773278[PMID]_30773277[PMID]</SourceOfValidation>
+          <Gene id="28127">
+            <Name lang="en">tonsoku like, DNA repair protein</Name>
+            <Symbol>TONSL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">IKBR</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="163385">
+                <Source>HGNC</Source>
+                <Reference>7801</Reference>
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+              <ExternalReference id="163386">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160949</Reference>
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+              <ExternalReference id="163387">
+                <Source>SwissProt</Source>
+                <Reference>Q96HA7</Reference>
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+              <ExternalReference id="163388">
+                <Source>OMIM</Source>
+                <Reference>604546</Reference>
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+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="29899">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=599082</ExpertLink>
+      <Name lang="en">CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30397230[PMID]</SourceOfValidation>
+          <Gene id="29264">
+            <Name lang="en">chromodomain helicase DNA binding protein 3</Name>
+            <Symbol>CHD3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Mi-2a</Synonym>
+              <Synonym lang="en">Mi2-ALPHA</Synonym>
+              <Synonym lang="en">ZFH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="184200">
+                <Source>HGNC</Source>
+                <Reference>1918</Reference>
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+              <ExternalReference id="184201">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170004</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12873</Reference>
+              </ExternalReference>
+              <ExternalReference id="184203">
+                <Source>Reactome</Source>
+                <Reference>Q12873</Reference>
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+              <ExternalReference id="184204">
+                <Source>OMIM</Source>
+                <Reference>602120</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17p13.1</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12300">
+      <OrphaCode>93372</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93372</ExpertLink>
+      <Name lang="en">Familial hypocalciuric hypercalcemia type 1</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15401">
+            <Name lang="en">calcium sensing receptor</Name>
+            <Symbol>CASR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FHH</Synonym>
+              <Synonym lang="en">GPRC2A</Synonym>
+              <Synonym lang="en">NSHPT</Synonym>
+              <Synonym lang="en">severe neonatal hyperparathyroidism</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57351">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000036828</Reference>
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+              <ExternalReference id="26345">
+                <Source>Genatlas</Source>
+                <Reference>CASR</Reference>
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+              <ExternalReference id="26343">
+                <Source>HGNC</Source>
+                <Reference>1514</Reference>
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+              <ExternalReference id="82804">
+                <Source>IUPHAR</Source>
+                <Reference>54</Reference>
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+              <ExternalReference id="26342">
+                <Source>OMIM</Source>
+                <Reference>601199</Reference>
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+              <ExternalReference id="57352">
+                <Source>Reactome</Source>
+                <Reference>P41180</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P41180</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12310">
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+      <Name lang="en">Brachydactyly type E</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>12649808[PMID]</SourceOfValidation>
+          <Gene id="16212">
+            <Name lang="en">homeobox D13</Name>
+            <Symbol>HOXD13</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">synpolydactyly</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P35453</Reference>
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+              <ExternalReference id="57402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128714</Reference>
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+              <ExternalReference id="30247">
+                <Source>Genatlas</Source>
+                <Reference>HOXD13</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5136</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P35453</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20170896[PMID]</SourceOfValidation>
+          <Gene id="19039">
+            <Name lang="en">parathyroid hormone like hormone</Name>
+            <Symbol>PTHLH</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">HHM</Synonym>
+              <Synonym lang="en">PLP</Synonym>
+              <Synonym lang="en">PTHR</Synonym>
+              <Synonym lang="en">PTHRP</Synonym>
+              <Synonym lang="en">osteostatin</Synonym>
+              <Synonym lang="en">parathyroid hormone-like hormone preproprotein</Synonym>
+              <Synonym lang="en">parathyroid hormone-related protein preproprotein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087494</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PTHLH</Reference>
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+                <Reference>9607</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Brachydactyly type A1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138696</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>1077</Reference>
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+                <Reference>1789</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603248</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+                <Reference>GDF5</Reference>
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+            <Name lang="en">Indian hedgehog signaling molecule</Name>
+            <Symbol>IHH</Symbol>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163501</Reference>
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+      <Name lang="en">Brachydactyly type C</Name>
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+            <Name lang="en">bone morphogenetic protein receptor type 1B</Name>
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+                <Reference>ENSG00000138696</Reference>
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+                <Reference>1077</Reference>
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+                <Reference>1789</Reference>
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+                <Reference>603248</Reference>
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+                <Source>Reactome</Source>
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+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+                <Reference>GDF5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4220</Reference>
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+            <LocusList count="1">
+              <Locus id="22773">
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12309">
+      <OrphaCode>93385</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93385</ExpertLink>
+      <Name lang="en">NON RARE IN EUROPE: Brachydactyly type D</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12649808[PMID]</SourceOfValidation>
+          <Gene id="16212">
+            <Name lang="en">homeobox D13</Name>
+            <Symbol>HOXD13</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">synpolydactyly</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128714</Reference>
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+              <ExternalReference id="30247">
+                <Source>Genatlas</Source>
+                <Reference>HOXD13</Reference>
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+              <ExternalReference id="30249">
+                <Source>HGNC</Source>
+                <Reference>5136</Reference>
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+              <ExternalReference id="30248">
+                <Source>OMIM</Source>
+                <Reference>142989</Reference>
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+              <ExternalReference id="33276">
+                <Source>SwissProt</Source>
+                <Reference>P35453</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12318">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93396</ExpertLink>
+      <Name lang="en">Brachydactyly type A2</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>19327734[PMID]_24710560[PMID]</SourceOfValidation>
+          <Gene id="18080">
+            <Name lang="en">bone morphogenetic protein 2</Name>
+            <Symbol>BMP2</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000125845</Reference>
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+              <ExternalReference id="41081">
+                <Source>Genatlas</Source>
+                <Reference>BMP2</Reference>
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+              <ExternalReference id="41082">
+                <Source>HGNC</Source>
+                <Reference>1069</Reference>
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+              <ExternalReference id="41083">
+                <Source>OMIM</Source>
+                <Reference>112261</Reference>
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+              <ExternalReference id="57878">
+                <Source>Reactome</Source>
+                <Reference>P12643</Reference>
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+                <Reference>P12643</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16014698[PMID]</SourceOfValidation>
+          <Gene id="16114">
+            <Name lang="en">growth differentiation factor 5</Name>
+            <Symbol>GDF5</Symbol>
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+              <Synonym lang="en">CDMP1</Synonym>
+              <Synonym lang="en">cartilage-derived morphogenetic protein-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P43026</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P43026</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125965</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>4220</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14523231[PMID]</SourceOfValidation>
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+            <Name lang="en">bone morphogenetic protein receptor type 1B</Name>
+            <Symbol>BMPR1B</Symbol>
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+              <Synonym lang="en">ALK6</Synonym>
+              <Synonym lang="en">CDw293</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">FG syndrome type 1</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mediator complex subunit 12</Name>
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+            <SynonymList count="9">
+              <Synonym lang="en">ARC240</Synonym>
+              <Synonym lang="en">CAGH45</Synonym>
+              <Synonym lang="en">HOPA</Synonym>
+              <Synonym lang="en">KIAA0192</Synonym>
+              <Synonym lang="en">Kohtalo homolog</Synonym>
+              <Synonym lang="en">Kto</Synonym>
+              <Synonym lang="en">OKS</Synonym>
+              <Synonym lang="en">OPA1</Synonym>
+              <Synonym lang="en">TRAP230</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Bladder exstrophy</Name>
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+              <Synonym lang="en">SHFM4</Synonym>
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+              <Synonym lang="en">p53CP</Synonym>
+              <Synonym lang="en">p63</Synonym>
+              <Synonym lang="en">p73H</Synonym>
+              <Synonym lang="en">p73L</Synonym>
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+                <Reference>ENSG00000073282</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000016082</Reference>
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+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
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+                <Source>Reactome</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15296">
+            <Name lang="en">SIX homeobox 3</Name>
+            <Symbol>SIX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57396">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138083</Reference>
+              </ExternalReference>
+              <ExternalReference id="25841">
+                <Source>Genatlas</Source>
+                <Reference>SIX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="25839">
+                <Source>HGNC</Source>
+                <Reference>10889</Reference>
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+              <ExternalReference id="25838">
+                <Source>OMIM</Source>
+                <Reference>603714</Reference>
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+              <ExternalReference id="33854">
+                <Source>SwissProt</Source>
+                <Reference>O95343</Reference>
+              </ExternalReference>
+              <ExternalReference id="143881">
+                <Source>Reactome</Source>
+                <Reference>O95343</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15612">
+            <Name lang="en">TGFB induced factor homeobox 1</Name>
+            <Symbol>TGIF1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59738">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177426</Reference>
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+              <ExternalReference id="36450">
+                <Source>Genatlas</Source>
+                <Reference>TGIF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27363">
+                <Source>HGNC</Source>
+                <Reference>11776</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602630</Reference>
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+              <ExternalReference id="82833">
+                <Source>Reactome</Source>
+                <Reference>Q15583</Reference>
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+              <ExternalReference id="32583">
+                <Source>SwissProt</Source>
+                <Reference>Q15583</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15744">
+            <Name lang="en">Zic family member 2</Name>
+            <Symbol>ZIC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">HPE5</Synonym>
+              <Synonym lang="en">Zinc finger protein of the cerebellum 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000043355</Reference>
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+              <ExternalReference id="27983">
+                <Source>Genatlas</Source>
+                <Reference>ZIC2</Reference>
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+              <ExternalReference id="27981">
+                <Source>HGNC</Source>
+                <Reference>12873</Reference>
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+              <ExternalReference id="27980">
+                <Source>OMIM</Source>
+                <Reference>603073</Reference>
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+              <ExternalReference id="32716">
+                <Source>SwissProt</Source>
+                <Reference>O95409</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16803">
+            <Name lang="en">GLI family zinc finger 2</Name>
+            <Symbol>GLI2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">HPE9</Synonym>
+              <Synonym lang="en">THP1</Synonym>
+              <Synonym lang="en">THP2</Synonym>
+              <Synonym lang="en">tax helper protein 1</Synonym>
+              <Synonym lang="en">tax helper protein 2</Synonym>
+              <Synonym lang="en">tax-responsive element-2 holding protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59734">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000074047</Reference>
+              </ExternalReference>
+              <ExternalReference id="35013">
+                <Source>Genatlas</Source>
+                <Reference>GLI2</Reference>
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+              <ExternalReference id="35014">
+                <Source>HGNC</Source>
+                <Reference>4318</Reference>
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+              <ExternalReference id="35016">
+                <Source>OMIM</Source>
+                <Reference>165230</Reference>
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+              <ExternalReference id="97249">
+                <Source>Reactome</Source>
+                <Reference>P10070</Reference>
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+              <ExternalReference id="35015">
+                <Source>SwissProt</Source>
+                <Reference>P10070</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16804">
+            <Name lang="en">teratocarcinoma-derived growth factor 1</Name>
+            <Symbol>TDGF1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CR</Synonym>
+              <Synonym lang="en">CR-1</Synonym>
+              <Synonym lang="en">CRIPTO</Synonym>
+              <Synonym lang="en">Cripto-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59740">
+                <Source>Reactome</Source>
+                <Reference>P13385</Reference>
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+              <ExternalReference id="35019">
+                <Source>SwissProt</Source>
+                <Reference>P13385</Reference>
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+              <ExternalReference id="59739">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241186</Reference>
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+              <ExternalReference id="35018">
+                <Source>Genatlas</Source>
+                <Reference>TDGF1</Reference>
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+              <ExternalReference id="35021">
+                <Source>HGNC</Source>
+                <Reference>11701</Reference>
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+              <ExternalReference id="35020">
+                <Source>OMIM</Source>
+                <Reference>187395</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
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+          <Gene id="17366">
+            <Name lang="en">forkhead box H1</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">FAST1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59732">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160973</Reference>
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+              <ExternalReference id="37058">
+                <Source>Genatlas</Source>
+                <Reference>FOXH1</Reference>
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+              <ExternalReference id="37060">
+                <Source>HGNC</Source>
+                <Reference>3814</Reference>
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+              <ExternalReference id="37059">
+                <Source>OMIM</Source>
+                <Reference>603621</Reference>
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+              <ExternalReference id="59733">
+                <Source>Reactome</Source>
+                <Reference>O75593</Reference>
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+              <ExternalReference id="37061">
+                <Source>SwissProt</Source>
+                <Reference>O75593</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>8q24.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17965">
+            <Name lang="en">fibroblast growth factor 8</Name>
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+            <SynonymList count="2">
+              <Synonym lang="en">AIGF</Synonym>
+              <Synonym lang="en">androgen-induced growth factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="40510">
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+                <Reference>P55075</Reference>
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+              <ExternalReference id="58421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107831</Reference>
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+              <ExternalReference id="40507">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="40508">
+                <Source>HGNC</Source>
+                <Reference>3686</Reference>
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+              <ExternalReference id="40509">
+                <Source>OMIM</Source>
+                <Reference>600483</Reference>
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+              <ExternalReference id="58422">
+                <Source>Reactome</Source>
+                <Reference>P55075</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19461">
+            <Name lang="en">dispatched RND transporter family member 1</Name>
+            <Symbol>DISP1</Symbol>
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+              <Synonym lang="en">DISPA</Synonym>
+              <Synonym lang="en">DKFZP434I0428</Synonym>
+              <Synonym lang="en">MGC13130</Synonym>
+              <Synonym lang="en">MGC16796</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000154309</Reference>
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+              <ExternalReference id="48360">
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="20404">
+            <Name lang="en">cell adhesion associated, oncogene regulated</Name>
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+              <Synonym lang="en">CDO</Synonym>
+              <Synonym lang="en">CDON1</Synonym>
+              <Synonym lang="en">Ihog</Synonym>
+              <Synonym lang="en">ORCAM</Synonym>
+              <Synonym lang="en">cell adhesion molecule-related/down-regulated by oncogenes</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064309</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608707</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+          <Gene id="20553">
+            <Name lang="en">nodal growth differentiation factor</Name>
+            <Symbol>NODAL</Symbol>
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+                <Source>Reactome</Source>
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+          <Gene id="20554">
+            <Name lang="en">delta like canonical Notch ligand 1</Name>
+            <Symbol>DLL1</Symbol>
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+                <Reference>ENSG00000198719</Reference>
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+                <Source>Reactome</Source>
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+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
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+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93924</ExpertLink>
+      <Name lang="en">Lobar holoprosencephaly</Name>
+      <DisorderType id="21450">
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+        <Name lang="en">Subtype of disorder</Name>
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+                <Source>Genatlas</Source>
+                <Reference>STIL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10879</Reference>
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+                <Source>OMIM</Source>
+                <Reference>181590</Reference>
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+              <ExternalReference id="40362">
+                <Source>SwissProt</Source>
+                <Reference>Q15468</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27363716[PMID]</SourceOfValidation>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
+                <Source>Genatlas</Source>
+                <Reference>FGFR1</Reference>
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+              <ExternalReference id="29431">
+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+              <ExternalReference id="33060">
+                <Source>SwissProt</Source>
+                <Reference>P11362</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15164">
+            <Name lang="en">patched 1</Name>
+            <Symbol>PTCH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BCNS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000185920</Reference>
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+              <ExternalReference id="36697">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9585</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601309</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q13635</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13635</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
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+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15296">
+            <Name lang="en">SIX homeobox 3</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000138083</Reference>
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+                <Reference>603714</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O95343</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95343</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15612">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20553">
+            <Name lang="en">nodal growth differentiation factor</Name>
+            <Symbol>NODAL</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156574</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7865</Reference>
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+                <Reference>601265</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q96S42</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20554">
+            <Name lang="en">delta like canonical Notch ligand 1</Name>
+            <Symbol>DLL1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000198719</Reference>
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+              <ExternalReference id="54424">
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+                <Reference>DLL1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2908</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606582</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O00548</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00548</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
+            <Symbol>GAS1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Growth arrest-specific gene-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>GAS1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P54826</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Alobar holoprosencephaly</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>29785796[PMID]</SourceOfValidation>
+          <Gene id="17920">
+            <Name lang="en">STIL centriolar assembly protein</Name>
+            <Symbol>STIL</Symbol>
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+              <Synonym lang="en">MCPH7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q15468</Reference>
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+              <ExternalReference id="57649">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123473</Reference>
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+              <ExternalReference id="40359">
+                <Source>Genatlas</Source>
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+                <Reference>Q15468</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">phospholipase C eta 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114805</Reference>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+          <Gene id="15164">
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Genatlas</Source>
+                <Reference>TDGF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="35021">
+                <Source>HGNC</Source>
+                <Reference>11701</Reference>
+              </ExternalReference>
+              <ExternalReference id="35020">
+                <Source>OMIM</Source>
+                <Reference>187395</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9723">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17366">
+            <Name lang="en">forkhead box H1</Name>
+            <Symbol>FOXH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FAST1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59732">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160973</Reference>
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+              <ExternalReference id="37058">
+                <Source>Genatlas</Source>
+                <Reference>FOXH1</Reference>
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+              <ExternalReference id="37060">
+                <Source>HGNC</Source>
+                <Reference>3814</Reference>
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+              <ExternalReference id="37059">
+                <Source>OMIM</Source>
+                <Reference>603621</Reference>
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+              <ExternalReference id="59733">
+                <Source>Reactome</Source>
+                <Reference>O75593</Reference>
+              </ExternalReference>
+              <ExternalReference id="37061">
+                <Source>SwissProt</Source>
+                <Reference>O75593</Reference>
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+                <GeneLocus>8q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17965">
+            <Name lang="en">fibroblast growth factor 8</Name>
+            <Symbol>FGF8</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AIGF</Synonym>
+              <Synonym lang="en">androgen-induced growth factor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>P55075</Reference>
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+              <ExternalReference id="58421">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107831</Reference>
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+              <ExternalReference id="40507">
+                <Source>Genatlas</Source>
+                <Reference>FGF8</Reference>
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+              <ExternalReference id="40508">
+                <Source>HGNC</Source>
+                <Reference>3686</Reference>
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+              <ExternalReference id="40509">
+                <Source>OMIM</Source>
+                <Reference>600483</Reference>
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+              <ExternalReference id="58422">
+                <Source>Reactome</Source>
+                <Reference>P55075</Reference>
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+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="19461">
+            <Name lang="en">dispatched RND transporter family member 1</Name>
+            <Symbol>DISP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DISPA</Synonym>
+              <Synonym lang="en">DKFZP434I0428</Synonym>
+              <Synonym lang="en">MGC13130</Synonym>
+              <Synonym lang="en">MGC16796</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000154309</Reference>
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+              <ExternalReference id="48360">
+                <Source>Genatlas</Source>
+                <Reference>DISP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19711</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607502</Reference>
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+              <ExternalReference id="48363">
+                <Source>SwissProt</Source>
+                <Reference>Q96F81</Reference>
+              </ExternalReference>
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+                <GeneLocus>1q41</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20404">
+            <Name lang="en">cell adhesion associated, oncogene regulated</Name>
+            <Symbol>CDON</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDO</Synonym>
+              <Synonym lang="en">CDON1</Synonym>
+              <Synonym lang="en">Ihog</Synonym>
+              <Synonym lang="en">ORCAM</Synonym>
+              <Synonym lang="en">cell adhesion molecule-related/down-regulated by oncogenes</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064309</Reference>
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+              <ExternalReference id="53974">
+                <Source>Genatlas</Source>
+                <Reference>CDON</Reference>
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+              <ExternalReference id="53971">
+                <Source>HGNC</Source>
+                <Reference>17104</Reference>
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+              <ExternalReference id="53972">
+                <Source>OMIM</Source>
+                <Reference>608707</Reference>
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+              <ExternalReference id="59728">
+                <Source>Reactome</Source>
+                <Reference>Q4KMG0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q4KMG0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20553">
+            <Name lang="en">nodal growth differentiation factor</Name>
+            <Symbol>NODAL</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59736">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156574</Reference>
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+              <ExternalReference id="54370">
+                <Source>Genatlas</Source>
+                <Reference>NODAL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7865</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601265</Reference>
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+              <ExternalReference id="59737">
+                <Source>Reactome</Source>
+                <Reference>Q96S42</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96S42</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20554">
+            <Name lang="en">delta like canonical Notch ligand 1</Name>
+            <Symbol>DLL1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198719</Reference>
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+              <ExternalReference id="54424">
+                <Source>Genatlas</Source>
+                <Reference>DLL1</Reference>
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+              <ExternalReference id="54422">
+                <Source>HGNC</Source>
+                <Reference>2908</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606582</Reference>
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+              <ExternalReference id="59730">
+                <Source>Reactome</Source>
+                <Reference>O00548</Reference>
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+              <ExternalReference id="54425">
+                <Source>SwissProt</Source>
+                <Reference>O00548</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20673">
+            <Name lang="en">growth arrest specific 1</Name>
+            <Symbol>GAS1</Symbol>
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+              <Synonym lang="en">Growth arrest-specific gene-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180447</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4165</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="97315">
+                <Source>Reactome</Source>
+                <Reference>P54826</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Full schwannomatosis</Name>
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+            <Symbol>NF2</Symbol>
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+              <Synonym lang="en">BANF</Synonym>
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+              <Synonym lang="en">SCH</Synonym>
+              <Synonym lang="en">bilateral acoustic neurofibromatosis</Synonym>
+              <Synonym lang="en">merlin</Synonym>
+              <Synonym lang="en">merlin-1</Synonym>
+              <Synonym lang="en">moesin-ezrin-radixin like</Synonym>
+              <Synonym lang="en">schwannomin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186575</Reference>
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+                <Reference>7773</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Sfh1p</Synonym>
+              <Synonym lang="en">Snr1</Synonym>
+              <Synonym lang="en">hSNFS</Synonym>
+              <Synonym lang="en">integrase interactor 1</Synonym>
+              <Synonym lang="en">malignant rhabdoid tumor suppressor</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 144</Synonym>
+              <Synonym lang="en">sucrose nonfermenting, yeast, homolog-like 1</Synonym>
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+              <ExternalReference id="91583">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q12824</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099956</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11103</Reference>
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+            <Name lang="en">coenzyme Q6, monooxygenase</Name>
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+                <Source>Genatlas</Source>
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+                <Reference>20233</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y2Z9</Reference>
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+                <Reference>Q9Y2Z9</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000099949</Reference>
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+                <Reference>6742</Reference>
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+      <Name lang="en">X-linked intellectual disability, Hedera type</Name>
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+              <Synonym lang="en">ATP6M8-9</Synonym>
+              <Synonym lang="en">M8-9</Synonym>
+              <Synonym lang="en">PRR</Synonym>
+              <Synonym lang="en">RENR</Synonym>
+              <Synonym lang="en">V-ATPase M8.9 subunit</Synonym>
+              <Synonym lang="en">prorenin receptor</Synonym>
+              <Synonym lang="en">renin receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12453">
+      <OrphaCode>93622</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93622</ExpertLink>
+      <Name lang="en">Dent disease type 1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876375[PMID]_21305656[PMID]_18540256[PMID]</SourceOfValidation>
+          <Gene id="15459">
+            <Name lang="en">chloride voltage-gated channel 5</Name>
+            <Symbol>CLCN5</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CLC5</Synonym>
+              <Synonym lang="en">ClC-5</Synonym>
+              <Synonym lang="en">DENTS</Synonym>
+              <Synonym lang="en">Dent disease</Synonym>
+              <Synonym lang="en">XLRH</Synonym>
+              <Synonym lang="en">XRN</Synonym>
+              <Synonym lang="en">hCIC-K2</Synonym>
+              <Synonym lang="en">hClC-K2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59726">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171365</Reference>
+              </ExternalReference>
+              <ExternalReference id="26623">
+                <Source>Genatlas</Source>
+                <Reference>CLCN5</Reference>
+              </ExternalReference>
+              <ExternalReference id="26621">
+                <Source>HGNC</Source>
+                <Reference>2023</Reference>
+              </ExternalReference>
+              <ExternalReference id="26620">
+                <Source>OMIM</Source>
+                <Reference>300008</Reference>
+              </ExternalReference>
+              <ExternalReference id="82819">
+                <Source>Reactome</Source>
+                <Reference>P51795</Reference>
+              </ExternalReference>
+              <ExternalReference id="32428">
+                <Source>SwissProt</Source>
+                <Reference>P51795</Reference>
+              </ExternalReference>
+              <ExternalReference id="193680">
+                <Source>IUPHAR</Source>
+                <Reference>704</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66769">
+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12454">
+      <OrphaCode>93623</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93623</ExpertLink>
+      <Name lang="en">Dent disease type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876375[PMID]</SourceOfValidation>
+          <Gene id="16585">
+            <Name lang="en">OCRL inositol polyphosphate-5-phosphatase</Name>
+            <Symbol>OCRL</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Dent disease 2</Synonym>
+              <Synonym lang="en">Dent-2</Synonym>
+              <Synonym lang="en">OCRL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190383">
+                <Source>IUPHAR</Source>
+                <Reference>1460</Reference>
+              </ExternalReference>
+              <ExternalReference id="56838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122126</Reference>
+              </ExternalReference>
+              <ExternalReference id="31993">
+                <Source>Genatlas</Source>
+                <Reference>OCRL</Reference>
+              </ExternalReference>
+              <ExternalReference id="31991">
+                <Source>HGNC</Source>
+                <Reference>8108</Reference>
+              </ExternalReference>
+              <ExternalReference id="31990">
+                <Source>OMIM</Source>
+                <Reference>300535</Reference>
+              </ExternalReference>
+              <ExternalReference id="56839">
+                <Source>Reactome</Source>
+                <Reference>Q01968</Reference>
+              </ExternalReference>
+              <ExternalReference id="33650">
+                <Source>SwissProt</Source>
+                <Reference>Q01968</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60175">
+                <GeneLocus>Xq26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12426">
+      <OrphaCode>93591</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93591</ExpertLink>
+      <Name lang="en">Infantile nephronophthisis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26184788[PMID]_18371931[PMID]</SourceOfValidation>
+          <Gene id="16564">
+            <Name lang="en">nephrocystin 3</Name>
+            <Symbol>NPHP3</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">CFAP31</Synonym>
+              <Synonym lang="en">FLJ30691</Synonym>
+              <Synonym lang="en">FLJ36696</Synonym>
+              <Synonym lang="en">KIAA2000</Synonym>
+              <Synonym lang="en">MKS7</Synonym>
+              <Synonym lang="en">Meckel syndrome, type 7</Synonym>
+              <Synonym lang="en">NPH3</Synonym>
+              <Synonym lang="en">SLSN3</Synonym>
+              <Synonym lang="en">cilia and flagella associated protein 31</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58317">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113971</Reference>
+              </ExternalReference>
+              <ExternalReference id="31889">
+                <Source>Genatlas</Source>
+                <Reference>NPHP3</Reference>
+              </ExternalReference>
+              <ExternalReference id="31891">
+                <Source>HGNC</Source>
+                <Reference>7907</Reference>
+              </ExternalReference>
+              <ExternalReference id="31890">
+                <Source>OMIM</Source>
+                <Reference>608002</Reference>
+              </ExternalReference>
+              <ExternalReference id="97244">
+                <Source>Reactome</Source>
+                <Reference>Q7Z494</Reference>
+              </ExternalReference>
+              <ExternalReference id="33629">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z494</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25201">
+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16264">
+            <Name lang="en">inversin</Name>
+            <Symbol>INVS</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">nephrocystin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119509</Reference>
+              </ExternalReference>
+              <ExternalReference id="30487">
+                <Source>Genatlas</Source>
+                <Reference>INVS</Reference>
+              </ExternalReference>
+              <ExternalReference id="30489">
+                <Source>HGNC</Source>
+                <Reference>17870</Reference>
+              </ExternalReference>
+              <ExternalReference id="30488">
+                <Source>OMIM</Source>
+                <Reference>243305</Reference>
+              </ExternalReference>
+              <ExternalReference id="33329">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y283</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21737">
+                <GeneLocus>9q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18199800[PMID]</SourceOfValidation>
+          <Gene id="18661">
+            <Name lang="en">NIMA related kinase 8</Name>
+            <Symbol>NEK8</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NPHP9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="143139">
+                <Source>Reactome</Source>
+                <Reference>Q86SG6</Reference>
+              </ExternalReference>
+              <ExternalReference id="58634">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160602</Reference>
+              </ExternalReference>
+              <ExternalReference id="76419">
+                <Source>Genatlas</Source>
+                <Reference>NEK8</Reference>
+              </ExternalReference>
+              <ExternalReference id="43103">
+                <Source>HGNC</Source>
+                <Reference>13387</Reference>
+              </ExternalReference>
+              <ExternalReference id="83157">
+                <Source>IUPHAR</Source>
+                <Reference>2123</Reference>
+              </ExternalReference>
+              <ExternalReference id="43104">
+                <Source>OMIM</Source>
+                <Reference>609799</Reference>
+              </ExternalReference>
+              <ExternalReference id="43105">
+                <Source>SwissProt</Source>
+                <Reference>Q86SG6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="51345">
+                <GeneLocus>17q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21258341[PMID]</SourceOfValidation>
+          <Gene id="19838">
+            <Name lang="en">tetratricopeptide repeat domain 21B</Name>
+            <Symbol>TTC21B</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FAP60</Synonym>
+              <Synonym lang="en">FLA17</Synonym>
+              <Synonym lang="en">FLJ11457</Synonym>
+              <Synonym lang="en">IFT139B</Synonym>
+              <Synonym lang="en">JBTS11</Synonym>
+              <Synonym lang="en">NPHP12</Synonym>
+              <Synonym lang="en">THM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57122">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123607</Reference>
+              </ExternalReference>
+              <ExternalReference id="50803">
+                <Source>Genatlas</Source>
+                <Reference>TTC21B</Reference>
+              </ExternalReference>
+              <ExternalReference id="50801">
+                <Source>HGNC</Source>
+                <Reference>25660</Reference>
+              </ExternalReference>
+              <ExternalReference id="50802">
+                <Source>OMIM</Source>
+                <Reference>612014</Reference>
+              </ExternalReference>
+              <ExternalReference id="97300">
+                <Source>Reactome</Source>
+                <Reference>Q7Z4L5</Reference>
+              </ExternalReference>
+              <ExternalReference id="50804">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z4L5</Reference>
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+            <LocusList count="1">
+              <Locus id="16847">
+                <GeneLocus>2q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23793029[PMID]</SourceOfValidation>
+          <Gene id="22269">
+            <Name lang="en">ankyrin repeat and sterile alpha motif domain containing 6</Name>
+            <Symbol>ANKS6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ36928</Synonym>
+              <Synonym lang="en">NPHP16</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165138</Reference>
+              </ExternalReference>
+              <ExternalReference id="81269">
+                <Source>Genatlas</Source>
+                <Reference>ANKS6</Reference>
+              </ExternalReference>
+              <ExternalReference id="81267">
+                <Source>HGNC</Source>
+                <Reference>26724</Reference>
+              </ExternalReference>
+              <ExternalReference id="81268">
+                <Source>OMIM</Source>
+                <Reference>615370</Reference>
+              </ExternalReference>
+              <ExternalReference id="81270">
+                <Source>SwissProt</Source>
+                <Reference>Q68DC2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21117">
+                <GeneLocus>9q22.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24882706[PMID]</SourceOfValidation>
+          <Gene id="22952">
+            <Name lang="en">centrosomal protein 83</Name>
+            <Symbol>CEP83</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NPHP18</Synonym>
+              <Synonym lang="en">NY-REN-58</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="97137">
+                <Source>Reactome</Source>
+                <Reference>Q9Y592</Reference>
+              </ExternalReference>
+              <ExternalReference id="90664">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y592</Reference>
+              </ExternalReference>
+              <ExternalReference id="91658">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173588</Reference>
+              </ExternalReference>
+              <ExternalReference id="90663">
+                <Source>Genatlas</Source>
+                <Reference>CEP83</Reference>
+              </ExternalReference>
+              <ExternalReference id="90661">
+                <Source>HGNC</Source>
+                <Reference>17966</Reference>
+              </ExternalReference>
+              <ExternalReference id="90662">
+                <Source>OMIM</Source>
+                <Reference>615847</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="16527">
+                <GeneLocus>12q22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22863007[PMID]</SourceOfValidation>
+          <Gene id="21454">
+            <Name lang="en">zinc finger protein 423</Name>
+            <Symbol>ZNF423</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">Early B-cell factor associated zinc finger protein</Synonym>
+              <Synonym lang="en">Ebfaz</Synonym>
+              <Synonym lang="en">JBTS19</Synonym>
+              <Synonym lang="en">KIAA0760</Synonym>
+              <Synonym lang="en">NPHP14</Synonym>
+              <Synonym lang="en">OAZ</Synonym>
+              <Synonym lang="en">OLF-1/EBF associated zinc finger gene</Synonym>
+              <Synonym lang="en">Roaz</Synonym>
+              <Synonym lang="en">Zfp104</Synonym>
+              <Synonym lang="en">early B-cell factor associated zinc finger protein</Synonym>
+              <Synonym lang="en">hOAZ</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83512">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102935</Reference>
+              </ExternalReference>
+              <ExternalReference id="73386">
+                <Source>Genatlas</Source>
+                <Reference>ZNF423</Reference>
+              </ExternalReference>
+              <ExternalReference id="73384">
+                <Source>HGNC</Source>
+                <Reference>16762</Reference>
+              </ExternalReference>
+              <ExternalReference id="73385">
+                <Source>OMIM</Source>
+                <Reference>604557</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q2M1K9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>16q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12427">
+      <OrphaCode>93592</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93592</ExpertLink>
+      <Name lang="en">Juvenile nephronophthisis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16563">
+            <Name lang="en">nephrocystin 1</Name>
+            <Symbol>NPHP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JBTS4</Synonym>
+              <Synonym lang="en">SLSN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58332">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144061</Reference>
+              </ExternalReference>
+              <ExternalReference id="31887">
+                <Source>Genatlas</Source>
+                <Reference>NPHP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31885">
+                <Source>HGNC</Source>
+                <Reference>7905</Reference>
+              </ExternalReference>
+              <ExternalReference id="31884">
+                <Source>OMIM</Source>
+                <Reference>607100</Reference>
+              </ExternalReference>
+              <ExternalReference id="97243">
+                <Source>Reactome</Source>
+                <Reference>O15259</Reference>
+              </ExternalReference>
+              <ExternalReference id="33628">
+                <Source>SwissProt</Source>
+                <Reference>O15259</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16733">
+                <GeneLocus>2q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16565">
+            <Name lang="en">nephrocystin 4</Name>
+            <Symbol>NPHP4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KIAA0673</Synonym>
+              <Synonym lang="en">POC10</Synonym>
+              <Synonym lang="en">POC10 centriolar protein homolog (Chlamydomonas)</Synonym>
+              <Synonym lang="en">SLSN4</Synonym>
+              <Synonym lang="en">nephroretinin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000131697</Reference>
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+                <Source>HGNC</Source>
+                <Reference>19104</Reference>
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+                <Reference>607215</Reference>
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+                <Reference>O75161</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17618285[PMID]</SourceOfValidation>
+          <Gene id="17743">
+            <Name lang="en">GLIS family zinc finger 2</Name>
+            <Symbol>GLIS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Gli-similar 2</Synonym>
+              <Synonym lang="en">NPHP7</Synonym>
+              <Synonym lang="en">nephrocystin-7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126603</Reference>
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+              <ExternalReference id="39469">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>29450</Reference>
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+            <Name lang="en">WD repeat domain 19</Name>
+            <Symbol>WDR19</Symbol>
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+              <Synonym lang="en">FAP66</Synonym>
+              <Synonym lang="en">FLJ23127</Synonym>
+              <Synonym lang="en">IFT144</Synonym>
+              <Synonym lang="en">KIAA1638</Synonym>
+              <Synonym lang="en">NPHP13</Synonym>
+              <Synonym lang="en">ORF26</Synonym>
+              <Synonym lang="en">Oseg6</Synonym>
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+              <Synonym lang="en">intraflagellar transport 144 homolog (Chlamydomonas)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NEZ3</Reference>
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+                <Reference>ENSG00000157796</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23793029[PMID]</SourceOfValidation>
+          <Gene id="22269">
+            <Name lang="en">ankyrin repeat and sterile alpha motif domain containing 6</Name>
+            <Symbol>ANKS6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ36928</Synonym>
+              <Synonym lang="en">NPHP16</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165138</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Reference>Q68DC2</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28089251[PMID]</SourceOfValidation>
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+            <Name lang="en">mitogen-activated protein kinase binding protein 1</Name>
+            <Symbol>MAPKBP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137802</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 9</Name>
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+              <Synonym lang="en">KIAA1312</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>OMIM</Source>
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+      <Name lang="en">Late-onset nephronophthisis</Name>
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+              <Synonym lang="en">KIAA2000</Synonym>
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+              <Synonym lang="en">Meckel syndrome, type 7</Synonym>
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+              <Synonym lang="en">cilia and flagella associated protein 31</Synonym>
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+          <SourceOfValidation>20179356[PMID]</SourceOfValidation>
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+            <Name lang="en">X-prolyl aminopeptidase 3</Name>
+            <Symbol>XPNPEP3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">APP3</Synonym>
+              <Synonym lang="en">ICP55</Synonym>
+              <Synonym lang="en">Intermediate Cleaving Peptidase 55</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">glycolicaciduria</Synonym>
+              <Synonym lang="en">oxalosis I</Synonym>
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+              <Synonym lang="en">K-SAM</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="12422">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93583</ExpertLink>
+      <Name lang="en">Congenital thrombotic thrombocytopenic purpura</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25587650[PMID]</SourceOfValidation>
+          <Gene id="15082">
+            <Name lang="en">ADAM metallopeptidase with thrombospondin type 1 motif 13</Name>
+            <Symbol>ADAMTS13</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">DKFZp434C2322</Synonym>
+              <Synonym lang="en">FLJ42993</Synonym>
+              <Synonym lang="en">MGC118899</Synonym>
+              <Synonym lang="en">MGC118900</Synonym>
+              <Synonym lang="en">TTP</Synonym>
+              <Synonym lang="en">VWFCP</Synonym>
+              <Synonym lang="en">vWF-CP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>1366</Reference>
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+                <Reference>604134</Reference>
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+              <ExternalReference id="87956">
+                <Source>Reactome</Source>
+                <Reference>Q76LX8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q76LX8</Reference>
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+      <Name lang="en">Atypical hemolytic uremic syndrome with anti-factor H antibodies</Name>
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+            <Name lang="en">complement factor H related 1</Name>
+            <Symbol>CFHR1</Symbol>
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+              <Synonym lang="en">FHR1</Synonym>
+              <Synonym lang="en">H36-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000244414</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4888</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Factor H related protein 5</Synonym>
+              <Synonym lang="en">factor H related protein 5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Synonym lang="en">Froese blood group</Synonym>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21255007[PMID]</SourceOfValidation>
+          <Gene id="16449">
+            <Name lang="en">solute carrier family 3 member 1</Name>
+            <Symbol>SLC3A1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ATR1</Synonym>
+              <Synonym lang="en">CSNU1</Synonym>
+              <Synonym lang="en">D2H</Synonym>
+              <Synonym lang="en">NBAT</Synonym>
+              <Synonym lang="en">RBAT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56961">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138079</Reference>
+              </ExternalReference>
+              <ExternalReference id="36307">
+                <Source>Genatlas</Source>
+                <Reference>SLC3A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="34029">
+                <Source>HGNC</Source>
+                <Reference>11025</Reference>
+              </ExternalReference>
+              <ExternalReference id="31348">
+                <Source>OMIM</Source>
+                <Reference>104614</Reference>
+              </ExternalReference>
+              <ExternalReference id="56962">
+                <Source>Reactome</Source>
+                <Reference>Q07837</Reference>
+              </ExternalReference>
+              <ExternalReference id="33511">
+                <Source>SwissProt</Source>
+                <Reference>Q07837</Reference>
+              </ExternalReference>
+              <ExternalReference id="190400">
+                <Source>IUPHAR</Source>
+                <Reference>889</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>2p21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="12435">
+      <OrphaCode>93602</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93602</ExpertLink>
+      <Name lang="en">Xanthinuria type II</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>11302742[PMID]_17368066[PMID]</SourceOfValidation>
+          <Gene id="16455">
+            <Name lang="en">molybdenum cofactor sulfurase</Name>
+            <Symbol>MOCOS</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ20733</Synonym>
+              <Synonym lang="en">HMCS</Synonym>
+              <Synonym lang="en">MOS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59714">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075643</Reference>
+              </ExternalReference>
+              <ExternalReference id="36730">
+                <Source>Genatlas</Source>
+                <Reference>MOCOS</Reference>
+              </ExternalReference>
+              <ExternalReference id="31379">
+                <Source>HGNC</Source>
+                <Reference>18234</Reference>
+              </ExternalReference>
+              <ExternalReference id="82588">
+                <Source>OMIM</Source>
+                <Reference>613274</Reference>
+              </ExternalReference>
+              <ExternalReference id="59715">
+                <Source>Reactome</Source>
+                <Reference>Q96EN8</Reference>
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+              <ExternalReference id="33518">
+                <Source>SwissProt</Source>
+                <Reference>Q96EN8</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="12434">
+      <OrphaCode>93601</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93601</ExpertLink>
+      <Name lang="en">Xanthinuria type I</Name>
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+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9153281[PMID]</SourceOfValidation>
+          <Gene id="15733">
+            <Name lang="en">xanthine dehydrogenase</Name>
+            <Symbol>XDH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">XO</Synonym>
+              <Synonym lang="en">XOR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158125</Reference>
+              </ExternalReference>
+              <ExternalReference id="27933">
+                <Source>Genatlas</Source>
+                <Reference>XDH</Reference>
+              </ExternalReference>
+              <ExternalReference id="27931">
+                <Source>HGNC</Source>
+                <Reference>12805</Reference>
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+              <ExternalReference id="82855">
+                <Source>IUPHAR</Source>
+                <Reference>2646</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607633</Reference>
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+              <ExternalReference id="59713">
+                <Source>Reactome</Source>
+                <Reference>P47989</Reference>
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+              <ExternalReference id="32705">
+                <Source>SwissProt</Source>
+                <Reference>P47989</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>93600</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=93600</ExpertLink>
+      <Name lang="en">Primary hyperoxaluria type 3</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="19460">
+            <Name lang="en">4-hydroxy-2-oxoglutarate aldolase 1</Name>
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+              <Synonym lang="en">DHDPS2</Synonym>
+              <Synonym lang="en">FLJ37472</Synonym>
+              <Synonym lang="en">N-acetylneuraminate pyruvate lyase 2 (putative)</Synonym>
+              <Synonym lang="en">NPL2</Synonym>
+              <Synonym lang="en">dihydrodipicolinate synthetase homolog 2 (E. coli)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143970">
+                <Source>Reactome</Source>
+                <Reference>Q86XE5</Reference>
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+              <ExternalReference id="59711">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241935</Reference>
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+              <ExternalReference id="99999">
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+                <Reference>HOGA1</Reference>
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+                <Reference>25155</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Primary hyperoxaluria type 2</Name>
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+                <Reference>ENSG00000137106</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Nephrogenic syndrome of inappropriate antidiuresis</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126895</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99067</ExpertLink>
+      <Name lang="en">Complete atrioventricular septal defect with ventricular hypoplasia</Name>
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+            <SynonymList count="6">
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+              <Synonym lang="en">COUP-TFII</Synonym>
+              <Synonym lang="en">COUPTF2</Synonym>
+              <Synonym lang="en">COUPTFB</Synonym>
+              <Synonym lang="en">NF-E3</Synonym>
+              <Synonym lang="en">SVP40</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+        <DisorderGeneAssociation>
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+            <Symbol>TBX20</Symbol>
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+          <Gene id="19259">
+            <Name lang="en">tolloid like 1</Name>
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+                <Source>Reactome</Source>
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+                <Reference>P10275</Reference>
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+              <ExternalReference id="34021">
+                <Source>SwissProt</Source>
+                <Reference>P10275</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9671">
+                <GeneLocus>Xq12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14219">
+      <OrphaCode>99646</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99646</ExpertLink>
+      <Name lang="en">Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22025298[PMID]</SourceOfValidation>
+          <Gene id="21083">
+            <Name lang="en">isocitrate dehydrogenase (NADP(+)) 1</Name>
+            <Symbol>IDH1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190558">
+                <Source>IUPHAR</Source>
+                <Reference>2884</Reference>
+              </ExternalReference>
+              <ExternalReference id="83345">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138413</Reference>
+              </ExternalReference>
+              <ExternalReference id="61769">
+                <Source>Genatlas</Source>
+                <Reference>IDH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="61767">
+                <Source>HGNC</Source>
+                <Reference>5382</Reference>
+              </ExternalReference>
+              <ExternalReference id="61768">
+                <Source>OMIM</Source>
+                <Reference>147700</Reference>
+              </ExternalReference>
+              <ExternalReference id="83344">
+                <Source>Reactome</Source>
+                <Reference>O75874</Reference>
+              </ExternalReference>
+              <ExternalReference id="61770">
+                <Source>SwissProt</Source>
+                <Reference>O75874</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
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+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29566">
+      <OrphaCode>592574</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=592574</ExpertLink>
+      <Name lang="en">Menke-Hennekam syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27311832[PMID]</SourceOfValidation>
+          <Gene id="15801">
+            <Name lang="en">CREB binding protein</Name>
+            <Symbol>CREBBP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CBP</Synonym>
+              <Synonym lang="en">KAT3A</Synonym>
+              <Synonym lang="en">RTS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005339</Reference>
+              </ExternalReference>
+              <ExternalReference id="28254">
+                <Source>Genatlas</Source>
+                <Reference>CREBBP</Reference>
+              </ExternalReference>
+              <ExternalReference id="28256">
+                <Source>HGNC</Source>
+                <Reference>2348</Reference>
+              </ExternalReference>
+              <ExternalReference id="87974">
+                <Source>IUPHAR</Source>
+                <Reference>2734</Reference>
+              </ExternalReference>
+              <ExternalReference id="28255">
+                <Source>OMIM</Source>
+                <Reference>600140</Reference>
+              </ExternalReference>
+              <ExternalReference id="56896">
+                <Source>Reactome</Source>
+                <Reference>Q92793</Reference>
+              </ExternalReference>
+              <ExternalReference id="32773">
+                <Source>SwissProt</Source>
+                <Reference>Q92793</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="29564">
+      <OrphaCode>592564</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=592564</ExpertLink>
+      <Name lang="en">GNAO1-related developmental delay-seizures-movement disorder spectrum</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29758257[PMID]</SourceOfValidation>
+          <Gene id="22304">
+            <Name lang="en">G protein subunit alpha o1</Name>
+            <Symbol>GNAO1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">G-ALPHA-o</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="81465">
+                <Source>HGNC</Source>
+                <Reference>4389</Reference>
+              </ExternalReference>
+              <ExternalReference id="81466">
+                <Source>OMIM</Source>
+                <Reference>139311</Reference>
+              </ExternalReference>
+              <ExternalReference id="83986">
+                <Source>Reactome</Source>
+                <Reference>P09471</Reference>
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+              <ExternalReference id="81468">
+                <Source>SwissProt</Source>
+                <Reference>P09471</Reference>
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+              <ExternalReference id="83987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087258</Reference>
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+              <ExternalReference id="81467">
+                <Source>Genatlas</Source>
+                <Reference>GNAO1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12785">
+                <GeneLocus>16q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29565">
+      <OrphaCode>592570</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=592570</ExpertLink>
+      <Name lang="en">TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29961569[PMID]</SourceOfValidation>
+          <Gene id="26770">
+            <Name lang="en">TNF receptor associated factor 7</Name>
+            <Symbol>TRAF7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586I021</Synonym>
+              <Synonym lang="en">MGC7807</Synonym>
+              <Synonym lang="en">RNF119</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="200731">
+                <Source>SwissProt</Source>
+                <Reference>Q6Q0C0</Reference>
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+              <ExternalReference id="156462">
+                <Source>HGNC</Source>
+                <Reference>20456</Reference>
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+              <ExternalReference id="156582">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131653</Reference>
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+              <ExternalReference id="156841">
+                <Source>Genatlas</Source>
+                <Reference>TRAF7</Reference>
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+              <ExternalReference id="191238">
+                <Source>OMIM</Source>
+                <Reference>606692</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>16p13.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14291">
+      <OrphaCode>99718</OrphaCode>
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+      <Name lang="en">Leber plus disease</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
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+          <SourceOfValidation>8644732[PMID]</SourceOfValidation>
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+            <Symbol>MT-ND4</Symbol>
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+              <Synonym lang="en">NAD4</Synonym>
+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 4</Synonym>
+              <Synonym lang="en">ND4</Synonym>
+              <Synonym lang="en">complex I ND4 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56743">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198886</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>MT-ND4</Reference>
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+              <ExternalReference id="31501">
+                <Source>HGNC</Source>
+                <Reference>7459</Reference>
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+              <ExternalReference id="31500">
+                <Source>OMIM</Source>
+                <Reference>516003</Reference>
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+              <ExternalReference id="56744">
+                <Source>Reactome</Source>
+                <Reference>P03905</Reference>
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+              <ExternalReference id="33546">
+                <Source>SwissProt</Source>
+                <Reference>P03905</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>8016139[PMID]_8644732[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6</Name>
+            <Symbol>MT-ND6</Symbol>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 6</Synonym>
+              <Synonym lang="en">ND6</Synonym>
+              <Synonym lang="en">complex I ND6 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>MT-ND6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7462</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516006</Reference>
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+              <ExternalReference id="56748">
+                <Source>Reactome</Source>
+                <Reference>P03923</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P03923</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19458970[PMID]</SourceOfValidation>
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+            <Name lang="en">mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3</Name>
+            <Symbol>MT-ND3</Symbol>
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+              <Synonym lang="en">NADH-ubiquinone oxidoreductase chain 3</Synonym>
+              <Synonym lang="en">ND3</Synonym>
+              <Synonym lang="en">complex I ND3 subunit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56912">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198840</Reference>
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+                <Reference>7458</Reference>
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+                <Source>OMIM</Source>
+                <Reference>516002</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P03897</Reference>
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+              <ExternalReference id="33545">
+                <Source>SwissProt</Source>
+                <Reference>P03897</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Pituitary gigantism</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">aryl hydrocarbon receptor interacting protein</Name>
+            <Symbol>AIP</Symbol>
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+              <Synonym lang="en">Ah receptor activated 9</Synonym>
+              <Synonym lang="en">FK506-binding protein 37</Synonym>
+              <Synonym lang="en">FKBP prolyl isomerase 16</Synonym>
+              <Synonym lang="en">FKBP16</Synonym>
+              <Synonym lang="en">FKBP37</Synonym>
+              <Synonym lang="en">X-associated protein-2</Synonym>
+              <Synonym lang="en">XAP2</Synonym>
+              <Synonym lang="en">aryl hydrocarbon receptor-associated protein 9</Synonym>
+              <Synonym lang="en">hepatitis B virus X-associated cellular protein 2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>O00170</Reference>
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+              <ExternalReference id="57241">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000110711</Reference>
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+                <Reference>AIP</Reference>
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+                <Reference>358</Reference>
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+                <Reference>605555</Reference>
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+                <Source>SwissProt</Source>
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+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26187128[PMID]</SourceOfValidation>
+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>MEN1</Reference>
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+                <Reference>7010</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <Name lang="en">Congenital-onset Steinert myotonic dystrophy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15878">
+            <Name lang="en">DM1 protein kinase</Name>
+            <Symbol>DMPK</Symbol>
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+              <Synonym lang="en">DM protein kinase</Synonym>
+              <Synonym lang="en">DM1PK</Synonym>
+              <Synonym lang="en">DMK</Synonym>
+              <Synonym lang="en">MDPK</Synonym>
+              <Synonym lang="en">MT-PK</Synonym>
+              <Synonym lang="en">Myotonin-protein kinase</Synonym>
+              <Synonym lang="en">dystrophia myotonica 1</Synonym>
+              <Synonym lang="en">myotonic dystrophy associated protein kinase</Synonym>
+              <Synonym lang="en">myotonin protein kinase A</Synonym>
+              <Synonym lang="en">thymopoietin homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104936</Reference>
+              </ExternalReference>
+              <ExternalReference id="28617">
+                <Source>Genatlas</Source>
+                <Reference>DMPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28615">
+                <Source>HGNC</Source>
+                <Reference>2933</Reference>
+              </ExternalReference>
+              <ExternalReference id="82882">
+                <Source>IUPHAR</Source>
+                <Reference>1505</Reference>
+              </ExternalReference>
+              <ExternalReference id="28614">
+                <Source>OMIM</Source>
+                <Reference>605377</Reference>
+              </ExternalReference>
+              <ExternalReference id="98056">
+                <Source>Reactome</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+              <ExternalReference id="32889">
+                <Source>SwissProt</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21383">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="29443">
+      <OrphaCode>589827</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589827</ExpertLink>
+      <Name lang="en">Juvenile-onset Steinert myotonic dystrophy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31326502[PMID]</SourceOfValidation>
+          <Gene id="15878">
+            <Name lang="en">DM1 protein kinase</Name>
+            <Symbol>DMPK</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DM protein kinase</Synonym>
+              <Synonym lang="en">DM1PK</Synonym>
+              <Synonym lang="en">DMK</Synonym>
+              <Synonym lang="en">MDPK</Synonym>
+              <Synonym lang="en">MT-PK</Synonym>
+              <Synonym lang="en">Myotonin-protein kinase</Synonym>
+              <Synonym lang="en">dystrophia myotonica 1</Synonym>
+              <Synonym lang="en">myotonic dystrophy associated protein kinase</Synonym>
+              <Synonym lang="en">myotonin protein kinase A</Synonym>
+              <Synonym lang="en">thymopoietin homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104936</Reference>
+              </ExternalReference>
+              <ExternalReference id="28617">
+                <Source>Genatlas</Source>
+                <Reference>DMPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28615">
+                <Source>HGNC</Source>
+                <Reference>2933</Reference>
+              </ExternalReference>
+              <ExternalReference id="82882">
+                <Source>IUPHAR</Source>
+                <Reference>1505</Reference>
+              </ExternalReference>
+              <ExternalReference id="28614">
+                <Source>OMIM</Source>
+                <Reference>605377</Reference>
+              </ExternalReference>
+              <ExternalReference id="98056">
+                <Source>Reactome</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+              <ExternalReference id="32889">
+                <Source>SwissProt</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21383">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="29442">
+      <OrphaCode>589824</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589824</ExpertLink>
+      <Name lang="en">Childhood-onset Steinert myotonic dystrophy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31326502[PMID]</SourceOfValidation>
+          <Gene id="15878">
+            <Name lang="en">DM1 protein kinase</Name>
+            <Symbol>DMPK</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DM protein kinase</Synonym>
+              <Synonym lang="en">DM1PK</Synonym>
+              <Synonym lang="en">DMK</Synonym>
+              <Synonym lang="en">MDPK</Synonym>
+              <Synonym lang="en">MT-PK</Synonym>
+              <Synonym lang="en">Myotonin-protein kinase</Synonym>
+              <Synonym lang="en">dystrophia myotonica 1</Synonym>
+              <Synonym lang="en">myotonic dystrophy associated protein kinase</Synonym>
+              <Synonym lang="en">myotonin protein kinase A</Synonym>
+              <Synonym lang="en">thymopoietin homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104936</Reference>
+              </ExternalReference>
+              <ExternalReference id="28617">
+                <Source>Genatlas</Source>
+                <Reference>DMPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28615">
+                <Source>HGNC</Source>
+                <Reference>2933</Reference>
+              </ExternalReference>
+              <ExternalReference id="82882">
+                <Source>IUPHAR</Source>
+                <Reference>1505</Reference>
+              </ExternalReference>
+              <ExternalReference id="28614">
+                <Source>OMIM</Source>
+                <Reference>605377</Reference>
+              </ExternalReference>
+              <ExternalReference id="98056">
+                <Source>Reactome</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+              <ExternalReference id="32889">
+                <Source>SwissProt</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21383">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="29445">
+      <OrphaCode>589833</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589833</ExpertLink>
+      <Name lang="en">Late-onset Steinert myotonic dystrophy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31326502[PMID]</SourceOfValidation>
+          <Gene id="15878">
+            <Name lang="en">DM1 protein kinase</Name>
+            <Symbol>DMPK</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DM protein kinase</Synonym>
+              <Synonym lang="en">DM1PK</Synonym>
+              <Synonym lang="en">DMK</Synonym>
+              <Synonym lang="en">MDPK</Synonym>
+              <Synonym lang="en">MT-PK</Synonym>
+              <Synonym lang="en">Myotonin-protein kinase</Synonym>
+              <Synonym lang="en">dystrophia myotonica 1</Synonym>
+              <Synonym lang="en">myotonic dystrophy associated protein kinase</Synonym>
+              <Synonym lang="en">myotonin protein kinase A</Synonym>
+              <Synonym lang="en">thymopoietin homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104936</Reference>
+              </ExternalReference>
+              <ExternalReference id="28617">
+                <Source>Genatlas</Source>
+                <Reference>DMPK</Reference>
+              </ExternalReference>
+              <ExternalReference id="28615">
+                <Source>HGNC</Source>
+                <Reference>2933</Reference>
+              </ExternalReference>
+              <ExternalReference id="82882">
+                <Source>IUPHAR</Source>
+                <Reference>1505</Reference>
+              </ExternalReference>
+              <ExternalReference id="28614">
+                <Source>OMIM</Source>
+                <Reference>605377</Reference>
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+              <ExternalReference id="98056">
+                <Source>Reactome</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+              <ExternalReference id="32889">
+                <Source>SwissProt</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21383">
+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29444">
+      <OrphaCode>589830</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589830</ExpertLink>
+      <Name lang="en">Adult-onset Steinert myotonic dystrophy</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>31326502[PMID]</SourceOfValidation>
+          <Gene id="15878">
+            <Name lang="en">DM1 protein kinase</Name>
+            <Symbol>DMPK</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DM protein kinase</Synonym>
+              <Synonym lang="en">DM1PK</Synonym>
+              <Synonym lang="en">DMK</Synonym>
+              <Synonym lang="en">MDPK</Synonym>
+              <Synonym lang="en">MT-PK</Synonym>
+              <Synonym lang="en">Myotonin-protein kinase</Synonym>
+              <Synonym lang="en">dystrophia myotonica 1</Synonym>
+              <Synonym lang="en">myotonic dystrophy associated protein kinase</Synonym>
+              <Synonym lang="en">myotonin protein kinase A</Synonym>
+              <Synonym lang="en">thymopoietin homolog</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56758">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104936</Reference>
+              </ExternalReference>
+              <ExternalReference id="28617">
+                <Source>Genatlas</Source>
+                <Reference>DMPK</Reference>
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+              <ExternalReference id="28615">
+                <Source>HGNC</Source>
+                <Reference>2933</Reference>
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+              <ExternalReference id="82882">
+                <Source>IUPHAR</Source>
+                <Reference>1505</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605377</Reference>
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+              <ExternalReference id="98056">
+                <Source>Reactome</Source>
+                <Reference>Q09013</Reference>
+              </ExternalReference>
+              <ExternalReference id="32889">
+                <Source>SwissProt</Source>
+                <Reference>Q09013</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="29447">
+      <OrphaCode>589905</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589905</ExpertLink>
+      <Name lang="en">PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29209020[PMID]</SourceOfValidation>
+          <Gene id="24808">
+            <Name lang="en">pleckstrin homology domain interacting protein</Name>
+            <Symbol>PHIP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BRWD2</Synonym>
+              <Synonym lang="en">DCAF14</Synonym>
+              <Synonym lang="en">DDB1 and CUL4 associated factor 14</Synonym>
+              <Synonym lang="en">FLJ20705</Synonym>
+              <Synonym lang="en">ndrp</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="133074">
+                <Source>SwissProt</Source>
+                <Reference>Q8WWQ0</Reference>
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+              <ExternalReference id="144078">
+                <Source>Genatlas</Source>
+                <Reference>PHIP</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612870</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2776</Reference>
+              </ExternalReference>
+              <ExternalReference id="131625">
+                <Source>HGNC</Source>
+                <Reference>15673</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000146247</Reference>
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+                <GeneLocus>6q14.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31949313[PMID]</SourceOfValidation>
+          <Gene id="19312">
+            <Name lang="en">lysine methyltransferase 2D</Name>
+            <Symbol>KMT2D</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALR</Synonym>
+              <Synonym lang="en">CAGL114</Synonym>
+              <Synonym lang="en">MLL4</Synonym>
+              <Synonym lang="en">histone-lysine N-methyltransferase 2D</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58183">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167548</Reference>
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+              <ExternalReference id="47710">
+                <Source>HGNC</Source>
+                <Reference>7133</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602113</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O14686</Reference>
+              </ExternalReference>
+              <ExternalReference id="47712">
+                <Source>SwissProt</Source>
+                <Reference>O14686</Reference>
+              </ExternalReference>
+              <ExternalReference id="143555">
+                <Source>Genatlas</Source>
+                <Reference>KMT2D</Reference>
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+                <Reference>2691</Reference>
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+                <GeneLocus>12q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>99749</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99749</ExpertLink>
+      <Name lang="en">Kostmann syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17187068[PMID]</SourceOfValidation>
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+            <Name lang="en">HCLS1 associated protein X-1</Name>
+            <Symbol>HAX1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HAX-1</Synonym>
+              <Synonym lang="en">HCLS1 (and PKD2) associated protein</Synonym>
+              <Synonym lang="en">HCLSBP1</Synonym>
+              <Synonym lang="en">HS1BP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143983">
+                <Source>Reactome</Source>
+                <Reference>O00165</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143575</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>HAX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16915</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605998</Reference>
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+                <Reference>O00165</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>99757</OrphaCode>
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+      <Name lang="en">Embryonal rhabdomyosarcoma</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>9520460[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 22 member 18</Name>
+            <Symbol>SLC22A18</Symbol>
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+              <Synonym lang="en">BWR1A</Synonym>
+              <Synonym lang="en">ITM</Synonym>
+              <Synonym lang="en">TSSC5</Synonym>
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+                <Reference>ENSG00000110628</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC22A18</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>7706467[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
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+              <Synonym lang="en">p53</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000141510</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">neurofibromin 1</Name>
+            <Symbol>NF1</Symbol>
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+              <Synonym lang="en">neurofibromatosis</Synonym>
+              <Synonym lang="en">von Recklinghausen disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>NF1</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P21359</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">dicer 1, ribonuclease III</Name>
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+              <Synonym lang="en">Dicer</Synonym>
+              <Synonym lang="en">HERNA</Synonym>
+              <Synonym lang="en">K12H4.8-LIKE</Synonym>
+              <Synonym lang="en">KIAA0928</Synonym>
+              <Synonym lang="en">dicer 1, double-stranded RNA-specific endoribonuclease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="43044">
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+                <Reference>17098</Reference>
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+                <Reference>606241</Reference>
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+              <ExternalReference id="59957">
+                <Source>Reactome</Source>
+                <Reference>Q9UPY3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPY3</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99756</ExpertLink>
+      <Name lang="en">Alveolar rhabdomyosarcoma</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59913">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150907</Reference>
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+                <Reference>3819</Reference>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000135903</Reference>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>581</Reference>
+              </ExternalReference>
+              <ExternalReference id="25630">
+                <Source>OMIM</Source>
+                <Reference>603967</Reference>
+              </ExternalReference>
+              <ExternalReference id="56757">
+                <Source>Reactome</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="33811">
+                <Source>SwissProt</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="56756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007314</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7067">
+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14309">
+      <OrphaCode>99736</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99736</ExpertLink>
+      <Name lang="en">Acetazolamide-responsive myotonia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8058156[PMID]</SourceOfValidation>
+          <Gene id="15253">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 4</Name>
+            <Symbol>SCN4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HYPP</Synonym>
+              <Synonym lang="en">Nav1.4</Synonym>
+              <Synonym lang="en">SkM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="25633">
+                <Source>Genatlas</Source>
+                <Reference>SCN4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25631">
+                <Source>HGNC</Source>
+                <Reference>10591</Reference>
+              </ExternalReference>
+              <ExternalReference id="82771">
+                <Source>IUPHAR</Source>
+                <Reference>581</Reference>
+              </ExternalReference>
+              <ExternalReference id="25630">
+                <Source>OMIM</Source>
+                <Reference>603967</Reference>
+              </ExternalReference>
+              <ExternalReference id="56757">
+                <Source>Reactome</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="33811">
+                <Source>SwissProt</Source>
+                <Reference>P35499</Reference>
+              </ExternalReference>
+              <ExternalReference id="56756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007314</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>17q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14314">
+      <OrphaCode>99741</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99741</ExpertLink>
+      <Name lang="en">King-Denborough syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21514828[PMID]_18765655[PMID]</SourceOfValidation>
+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56751">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
+              </ExternalReference>
+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.2</GeneLocus>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14315">
+      <OrphaCode>99742</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99742</ExpertLink>
+      <Name lang="en">Amish lethal microcephaly</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301539[PMID]</SourceOfValidation>
+          <Gene id="15311">
+            <Name lang="en">solute carrier family 25 member 19</Name>
+            <Symbol>SLC25A19</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DNC</Synonym>
+              <Synonym lang="en">MUP1</Synonym>
+              <Synonym lang="en">TPC</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="25911">
+                <Source>Genatlas</Source>
+                <Reference>SLC25A19</Reference>
+              </ExternalReference>
+              <ExternalReference id="25913">
+                <Source>HGNC</Source>
+                <Reference>14409</Reference>
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+              <ExternalReference id="25912">
+                <Source>OMIM</Source>
+                <Reference>606521</Reference>
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+              <ExternalReference id="33869">
+                <Source>SwissProt</Source>
+                <Reference>Q9HC21</Reference>
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+              <ExternalReference id="59911">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125454</Reference>
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+              <ExternalReference id="193526">
+                <Source>IUPHAR</Source>
+                <Reference>1073</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9HC21</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="13837">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98820</ExpertLink>
+      <Name lang="en">Familial focal epilepsy with variable foci</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">DEP domain containing 5, GATOR1 subcomplex subunit</Name>
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+              <Synonym lang="en">KIAA0645</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83824">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100150</Reference>
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+              <ExternalReference id="79374">
+                <Source>Genatlas</Source>
+                <Reference>DEPDC5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18423</Reference>
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+              <ExternalReference id="79373">
+                <Source>OMIM</Source>
+                <Reference>614191</Reference>
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+              <ExternalReference id="79375">
+                <Source>SwissProt</Source>
+                <Reference>O75140</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26505888[PMID]_27173016[PMID]</SourceOfValidation>
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+            <Name lang="en">NPR2 like, GATOR1 complex subunit</Name>
+            <Symbol>NPRL2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="125593">
+                <Source>Genatlas</Source>
+                <Reference>TUSC4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WTW4</Reference>
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+              <ExternalReference id="125595">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114388</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26505888[PMID]_27173016[PMID]</SourceOfValidation>
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+            <Name lang="en">NPR3 like, GATOR1 complex subunit</Name>
+            <Symbol>NPRL3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CGTHBA</Synonym>
+              <Synonym lang="en">HS-40</Synonym>
+              <Synonym lang="en">MARE</Synonym>
+              <Synonym lang="en">NPR3</Synonym>
+              <Synonym lang="en">RMD11</Synonym>
+              <Synonym lang="en">conserved gene telomeric to alpha globin cluster</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Genatlas</Source>
+                <Reference>CGTHBA</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103148</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12980</Reference>
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+    <Disorder id="13835">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98818</ExpertLink>
+      <Name lang="en">Landau-Kleffner syndrome</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2A</Name>
+            <Symbol>GRIN2A</Symbol>
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+              <Synonym lang="en">GluN2A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60608">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183454</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GRIN2A</Reference>
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+                <Reference>4585</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>456</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138253</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q12879</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q12879</Reference>
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+      <Name lang="en">Hypohidrotic ectodermal dysplasia with immunodeficiency</Name>
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+            <Name lang="en">inhibitor of nuclear factor kappa B kinase regulatory subunit gamma</Name>
+            <Symbol>IKBKG</Symbol>
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+              <Synonym lang="en">Fip3p</Synonym>
+              <Synonym lang="en">IKK-gamma</Synonym>
+              <Synonym lang="en">NEMO</Synonym>
+              <Synonym lang="en">ZC2HC9</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269335</Reference>
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+                <Reference>IKBKG</Reference>
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+                <Reference>5961</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300248</Reference>
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+              <ExternalReference id="57182">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6K9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y6K9</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18412279[PMID]</SourceOfValidation>
+          <Gene id="17400">
+            <Name lang="en">NFKB inhibitor alpha</Name>
+            <Symbol>NFKBIA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">IKBA</Synonym>
+              <Synonym lang="en">IkappaBalpha</Synonym>
+              <Synonym lang="en">MAD-3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100906</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7797</Reference>
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+                <Reference>164008</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>P25963</Reference>
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+              <ExternalReference id="37273">
+                <Source>SwissProt</Source>
+                <Reference>P25963</Reference>
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+                <GeneLocus>14q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="13828">
+      <OrphaCode>98811</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98811</ExpertLink>
+      <Name lang="en">Paroxysmal exertion-induced dyskinesia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="17205">
+            <Name lang="en">solute carrier family 2 member 1</Name>
+            <Symbol>SLC2A1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DYT18</Synonym>
+              <Synonym lang="en">DYT9</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190430">
+                <Source>IUPHAR</Source>
+                <Reference>875</Reference>
+              </ExternalReference>
+              <ExternalReference id="57773">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117394</Reference>
+              </ExternalReference>
+              <ExternalReference id="36303">
+                <Source>Genatlas</Source>
+                <Reference>SLC2A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36305">
+                <Source>HGNC</Source>
+                <Reference>11005</Reference>
+              </ExternalReference>
+              <ExternalReference id="36304">
+                <Source>OMIM</Source>
+                <Reference>138140</Reference>
+              </ExternalReference>
+              <ExternalReference id="57774">
+                <Source>Reactome</Source>
+                <Reference>P11166</Reference>
+              </ExternalReference>
+              <ExternalReference id="36306">
+                <Source>SwissProt</Source>
+                <Reference>P11166</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60269">
+                <GeneLocus>1p34.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22902309[PMID]_22209761[PMID]_23398397[PMID]</SourceOfValidation>
+          <Gene id="20787">
+            <Name lang="en">proline rich transmembrane protein 2</Name>
+            <Symbol>PRRT2</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DKFZp547J199</Synonym>
+              <Synonym lang="en">DSPB3</Synonym>
+              <Synonym lang="en">EKD1</Synonym>
+              <Synonym lang="en">FICCA</Synonym>
+              <Synonym lang="en">FLJ25513</Synonym>
+              <Synonym lang="en">IFITMD1</Synonym>
+              <Synonym lang="en">Interferon induced transmembrane protein domain containing 1</Synonym>
+              <Synonym lang="en">PKC</Synonym>
+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167371</Reference>
+              </ExternalReference>
+              <ExternalReference id="60654">
+                <Source>Genatlas</Source>
+                <Reference>PRRT2</Reference>
+              </ExternalReference>
+              <ExternalReference id="60652">
+                <Source>HGNC</Source>
+                <Reference>30500</Reference>
+              </ExternalReference>
+              <ExternalReference id="60653">
+                <Source>OMIM</Source>
+                <Reference>614386</Reference>
+              </ExternalReference>
+              <ExternalReference id="60655">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z6L0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11779">
+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13827">
+      <OrphaCode>98810</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98810</ExpertLink>
+      <Name lang="en">Paroxysmal non-kinesigenic dyskinesia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17434">
+            <Name lang="en">PNKD metallo-beta-lactamase domain containing</Name>
+            <Symbol>PNKD</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">BRP17</Synonym>
+              <Synonym lang="en">DKFZp564N1362</Synonym>
+              <Synonym lang="en">DYT8</Synonym>
+              <Synonym lang="en">FKSG19</Synonym>
+              <Synonym lang="en">FPD1</Synonym>
+              <Synonym lang="en">KIAA1184</Synonym>
+              <Synonym lang="en">KIPP1184</Synonym>
+              <Synonym lang="en">MGC31943</Synonym>
+              <Synonym lang="en">MR-1</Synonym>
+              <Synonym lang="en">MR-1S</Synonym>
+              <Synonym lang="en">PDC</Synonym>
+              <Synonym lang="en">PKND1</Synonym>
+              <Synonym lang="en">TAHCCP2</Synonym>
+              <Synonym lang="en">myofibrillogenesis regulator 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143837">
+                <Source>Reactome</Source>
+                <Reference>Q8N490</Reference>
+              </ExternalReference>
+              <ExternalReference id="59833">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127838</Reference>
+              </ExternalReference>
+              <ExternalReference id="37839">
+                <Source>Genatlas</Source>
+                <Reference>PNKD</Reference>
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+              <ExternalReference id="37842">
+                <Source>HGNC</Source>
+                <Reference>9153</Reference>
+              </ExternalReference>
+              <ExternalReference id="37841">
+                <Source>OMIM</Source>
+                <Reference>609023</Reference>
+              </ExternalReference>
+              <ExternalReference id="37840">
+                <Source>SwissProt</Source>
+                <Reference>Q8N490</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39137">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22902309[PMID]_22209761[PMID]_23398397[PMID]</SourceOfValidation>
+          <Gene id="20787">
+            <Name lang="en">proline rich transmembrane protein 2</Name>
+            <Symbol>PRRT2</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DKFZp547J199</Synonym>
+              <Synonym lang="en">DSPB3</Synonym>
+              <Synonym lang="en">EKD1</Synonym>
+              <Synonym lang="en">FICCA</Synonym>
+              <Synonym lang="en">FLJ25513</Synonym>
+              <Synonym lang="en">IFITMD1</Synonym>
+              <Synonym lang="en">Interferon induced transmembrane protein domain containing 1</Synonym>
+              <Synonym lang="en">PKC</Synonym>
+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167371</Reference>
+              </ExternalReference>
+              <ExternalReference id="60654">
+                <Source>Genatlas</Source>
+                <Reference>PRRT2</Reference>
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+              <ExternalReference id="60652">
+                <Source>HGNC</Source>
+                <Reference>30500</Reference>
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+              <ExternalReference id="60653">
+                <Source>OMIM</Source>
+                <Reference>614386</Reference>
+              </ExternalReference>
+              <ExternalReference id="60655">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z6L0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="11779">
+                <GeneLocus>16p11.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13826">
+      <OrphaCode>98809</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98809</ExpertLink>
+      <Name lang="en">Paroxysmal kinesigenic dyskinesia</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <Gene id="20787">
+            <Name lang="en">proline rich transmembrane protein 2</Name>
+            <Symbol>PRRT2</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">DKFZp547J199</Synonym>
+              <Synonym lang="en">DSPB3</Synonym>
+              <Synonym lang="en">EKD1</Synonym>
+              <Synonym lang="en">FICCA</Synonym>
+              <Synonym lang="en">FLJ25513</Synonym>
+              <Synonym lang="en">IFITMD1</Synonym>
+              <Synonym lang="en">Interferon induced transmembrane protein domain containing 1</Synonym>
+              <Synonym lang="en">PKC</Synonym>
+              <Synonym lang="en">dispanin subfamily B member 3</Synonym>
+              <Synonym lang="en">interferon induced transmembrane protein domain containing 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167371</Reference>
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+              <ExternalReference id="60654">
+                <Source>Genatlas</Source>
+                <Reference>PRRT2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>30500</Reference>
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+              <ExternalReference id="60653">
+                <Source>OMIM</Source>
+                <Reference>614386</Reference>
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+              <ExternalReference id="60655">
+                <Source>SwissProt</Source>
+                <Reference>Q7Z6L0</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29294000[PMID]</SourceOfValidation>
+          <Gene id="16285">
+            <Name lang="en">potassium voltage-gated channel subfamily A member 1</Name>
+            <Symbol>KCNA1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HUK1</Synonym>
+              <Synonym lang="en">Kv1.1</Synonym>
+              <Synonym lang="en">MBK1</Synonym>
+              <Synonym lang="en">RBK1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57993">
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+                <Reference>ENSG00000111262</Reference>
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+                <Reference>6218</Reference>
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+              <ExternalReference id="82964">
+                <Source>IUPHAR</Source>
+                <Reference>538</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176260</Reference>
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+              <ExternalReference id="57994">
+                <Source>Reactome</Source>
+                <Reference>Q09470</Reference>
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+              <ExternalReference id="33350">
+                <Source>SwissProt</Source>
+                <Reference>Q09470</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13825">
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+      <Name lang="en">Autosomal dominant dopa-responsive dystonia</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16109">
+            <Name lang="en">GTP cyclohydrolase 1</Name>
+            <Symbol>GCH1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DYT5a</Synonym>
+              <Synonym lang="en">GTP cyclohydrolase I</Synonym>
+              <Synonym lang="en">GTPCH1</Synonym>
+              <Synonym lang="en">dopa-responsive dystonia</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57683">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131979</Reference>
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+              <ExternalReference id="29752">
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+                <Source>HGNC</Source>
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+                <Reference>600225</Reference>
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+              <ExternalReference id="57684">
+                <Source>Reactome</Source>
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+              <ExternalReference id="33124">
+                <Source>SwissProt</Source>
+                <Reference>P30793</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31922365[PMID]</SourceOfValidation>
+          <Gene id="28527">
+            <Name lang="en">nuclear receptor subfamily 4 group A member 2</Name>
+            <Symbol>NR4A2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">HZF-3</Synonym>
+              <Synonym lang="en">NOT</Synonym>
+              <Synonym lang="en">RNR1</Synonym>
+              <Synonym lang="en">TINUR</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000153234</Reference>
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+                <Reference>P43354</Reference>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>630</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34305140[PMID]</SourceOfValidation>
+          <Gene id="31451">
+            <Name lang="en">inosine monophosphate dehydrogenase 2</Name>
+            <Symbol>IMPDH2</Symbol>
+            <SynonymList count="0">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Reference>2625</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98807</ExpertLink>
+      <Name lang="en">Primary dystonia, DYT13 type</Name>
+      <DisorderType id="21394">
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+            <Name lang="en">dystonia 13, torsion</Name>
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="13855">
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+      <Name lang="en">Primary mediastinal large B-cell lymphoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>17116487[PMID]</SourceOfValidation>
+          <Gene id="17194">
+            <Name lang="en">BCL6 transcription repressor</Name>
+            <Symbol>BCL6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL5</Synonym>
+              <Synonym lang="en">BCL6A</Synonym>
+              <Synonym lang="en">LAZ3</Synonym>
+              <Synonym lang="en">ZBTB27</Synonym>
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+                <Source>Reactome</Source>
+                <Reference>P41182</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2957</Reference>
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+              <ExternalReference id="58914">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113916</Reference>
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+              <ExternalReference id="36242">
+                <Source>Genatlas</Source>
+                <Reference>BCL6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1001</Reference>
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+              <ExternalReference id="36239">
+                <Source>OMIM</Source>
+                <Reference>109565</Reference>
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+              <ExternalReference id="36240">
+                <Source>SwissProt</Source>
+                <Reference>P41182</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q27.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27312795[PMID]</SourceOfValidation>
+          <Gene id="25041">
+            <Name lang="en">exportin 1</Name>
+            <Symbol>XPO1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CRM-1</Synonym>
+              <Synonym lang="en">CRM1</Synonym>
+              <Synonym lang="en">chromosome region maintenance 1 homolog (yeast)</Synonym>
+              <Synonym lang="en">emb</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="131858">
+                <Source>HGNC</Source>
+                <Reference>12825</Reference>
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+              <ExternalReference id="142984">
+                <Source>Genatlas</Source>
+                <Reference>XPO1</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>3014</Reference>
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+              <ExternalReference id="133305">
+                <Source>SwissProt</Source>
+                <Reference>O14980</Reference>
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+              <ExternalReference id="132575">
+                <Source>OMIM</Source>
+                <Reference>602559</Reference>
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+              <ExternalReference id="133487">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000082898</Reference>
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+              <ExternalReference id="134620">
+                <Source>Reactome</Source>
+                <Reference>O14980</Reference>
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+                <GeneLocus>2p15</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13852">
+      <OrphaCode>98835</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98835</ExpertLink>
+      <Name lang="en">Acute undifferentiated leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11579461[PMID]</SourceOfValidation>
+          <Gene id="16409">
+            <Name lang="en">lysine methyltransferase 2A</Name>
+            <Symbol>KMT2A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ALL-1</Synonym>
+              <Synonym lang="en">CXXC7</Synonym>
+              <Synonym lang="en">HRX</Synonym>
+              <Synonym lang="en">HTRX1</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
+              <Synonym lang="en">MLL1A</Synonym>
+              <Synonym lang="en">TRX1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="190397">
+                <Source>IUPHAR</Source>
+                <Reference>2688</Reference>
+              </ExternalReference>
+              <ExternalReference id="59489">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118058</Reference>
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+              <ExternalReference id="95302">
+                <Source>Genatlas</Source>
+                <Reference>KMT2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="31174">
+                <Source>HGNC</Source>
+                <Reference>7132</Reference>
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+              <ExternalReference id="31173">
+                <Source>OMIM</Source>
+                <Reference>159555</Reference>
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+              <ExternalReference id="97235">
+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
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+              <ExternalReference id="33473">
+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13850">
+      <OrphaCode>98833</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98833</ExpertLink>
+      <Name lang="en">Acute myeloblastic leukemia without maturation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22338050[PMID]</SourceOfValidation>
+          <Gene id="16784">
+            <Name lang="en">fms related receptor tyrosine kinase 3</Name>
+            <Symbol>FLT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD135</Synonym>
+              <Synonym lang="en">FLK2</Synonym>
+              <Synonym lang="en">STK1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
+              </ExternalReference>
+              <ExternalReference id="34918">
+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
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+              <ExternalReference id="34919">
+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
+              </ExternalReference>
+              <ExternalReference id="83027">
+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
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+              <ExternalReference id="34920">
+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
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+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+              <ExternalReference id="34921">
+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>13q12.2</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22338050[PMID]</SourceOfValidation>
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+            <Name lang="en">nucleophosmin 1</Name>
+            <Symbol>NPM1</Symbol>
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+              <Synonym lang="en">'nucleophosmin/nucleoplasmin family, member 1'</Synonym>
+              <Synonym lang="en">B23</Synonym>
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+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
+              <Synonym lang="en">Numatrin</Synonym>
+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58811">
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+                <Reference>ENSG00000181163</Reference>
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+              <ExternalReference id="37278">
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+                <Source>HGNC</Source>
+                <Reference>7910</Reference>
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+                <Source>OMIM</Source>
+                <Reference>164040</Reference>
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+              <ExternalReference id="58812">
+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P06748</Reference>
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+              <Locus id="10153">
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="13851">
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+      <Name lang="en">Acute myeloblastic leukemia with maturation</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000122025</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
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+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000157404</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
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+                <Reference>P10721</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">nucleophosmin 1</Name>
+            <Symbol>NPM1</Symbol>
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+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
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+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
+              <Synonym lang="en">numatrin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000181163</Reference>
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+                <Reference>7910</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P06748</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P06748</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+      <Name lang="en">Acute myeloid leukemia with 11q23 abnormalities</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">CXXC7</Synonym>
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+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118058</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7132</Reference>
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+                <Source>OMIM</Source>
+                <Reference>159555</Reference>
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+              <ExternalReference id="97235">
+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98832</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with minimal differentiation</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
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+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13846">
+      <OrphaCode>98829</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98829</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23783394[PMID]</SourceOfValidation>
+          <Gene id="16784">
+            <Name lang="en">fms related receptor tyrosine kinase 3</Name>
+            <Symbol>FLT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD135</Synonym>
+              <Synonym lang="en">FLK2</Synonym>
+              <Synonym lang="en">STK1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
+              </ExternalReference>
+              <ExternalReference id="34918">
+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="34919">
+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
+              </ExternalReference>
+              <ExternalReference id="83027">
+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
+              </ExternalReference>
+              <ExternalReference id="34920">
+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
+              </ExternalReference>
+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+              <ExternalReference id="34921">
+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26261">
+                <GeneLocus>13q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="16496">
+            <Name lang="en">myosin heavy chain 11</Name>
+            <Symbol>MYH11</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SMHC</Synonym>
+              <Synonym lang="en">SMMHC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58473">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133392</Reference>
+              </ExternalReference>
+              <ExternalReference id="37269">
+                <Source>Genatlas</Source>
+                <Reference>MYH11</Reference>
+              </ExternalReference>
+              <ExternalReference id="31568">
+                <Source>HGNC</Source>
+                <Reference>7569</Reference>
+              </ExternalReference>
+              <ExternalReference id="31567">
+                <Source>OMIM</Source>
+                <Reference>160745</Reference>
+              </ExternalReference>
+              <ExternalReference id="58474">
+                <Source>Reactome</Source>
+                <Reference>P35749</Reference>
+              </ExternalReference>
+              <ExternalReference id="33561">
+                <Source>SwissProt</Source>
+                <Reference>P35749</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9373">
+                <GeneLocus>16p13.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
+          <Gene id="17921">
+            <Name lang="en">core-binding factor subunit beta</Name>
+            <Symbol>CBFB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PEBP2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143937">
+                <Source>Reactome</Source>
+                <Reference>Q13951</Reference>
+              </ExternalReference>
+              <ExternalReference id="59834">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000067955</Reference>
+              </ExternalReference>
+              <ExternalReference id="40393">
+                <Source>Genatlas</Source>
+                <Reference>CBFB</Reference>
+              </ExternalReference>
+              <ExternalReference id="40394">
+                <Source>HGNC</Source>
+                <Reference>1539</Reference>
+              </ExternalReference>
+              <ExternalReference id="40395">
+                <Source>OMIM</Source>
+                <Reference>121360</Reference>
+              </ExternalReference>
+              <ExternalReference id="40396">
+                <Source>SwissProt</Source>
+                <Reference>Q13951</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39341">
+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23783394[PMID]_24226631[PMID]</SourceOfValidation>
+          <Gene id="16308">
+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
+            <Symbol>KIT</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">C-Kit</Synonym>
+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58304">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
+              </ExternalReference>
+              <ExternalReference id="30702">
+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
+              </ExternalReference>
+              <ExternalReference id="30700">
+                <Source>HGNC</Source>
+                <Reference>6342</Reference>
+              </ExternalReference>
+              <ExternalReference id="82976">
+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
+              </ExternalReference>
+              <ExternalReference id="30699">
+                <Source>OMIM</Source>
+                <Reference>164920</Reference>
+              </ExternalReference>
+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+              <ExternalReference id="33373">
+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9033">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13844">
+      <OrphaCode>98827</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98827</ExpertLink>
+      <Name lang="en">Unclassified myelodysplastic syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21892162[PMID]</SourceOfValidation>
+          <Gene id="20311">
+            <Name lang="en">GATA binding protein 2</Name>
+            <Symbol>GATA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NFE1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58359">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000179348</Reference>
+              </ExternalReference>
+              <ExternalReference id="53182">
+                <Source>Genatlas</Source>
+                <Reference>GATA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="53180">
+                <Source>HGNC</Source>
+                <Reference>4171</Reference>
+              </ExternalReference>
+              <ExternalReference id="53181">
+                <Source>OMIM</Source>
+                <Reference>137295</Reference>
+              </ExternalReference>
+              <ExternalReference id="58360">
+                <Source>Reactome</Source>
+                <Reference>P23769</Reference>
+              </ExternalReference>
+              <ExternalReference id="53183">
+                <Source>SwissProt</Source>
+                <Reference>P23769</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22297">
+                <GeneLocus>3q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13843">
+      <OrphaCode>98826</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98826</ExpertLink>
+      <Name lang="en">Refractory anemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19483684[PMID]_19557078[PMID]</SourceOfValidation>
+          <Gene id="20177">
+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
+            <Symbol>TET2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20032</Synonym>
+              <Synonym lang="en">ten-eleven translocation 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168769</Reference>
+              </ExternalReference>
+              <ExternalReference id="51832">
+                <Source>Genatlas</Source>
+                <Reference>TET2</Reference>
+              </ExternalReference>
+              <ExternalReference id="51830">
+                <Source>HGNC</Source>
+                <Reference>25941</Reference>
+              </ExternalReference>
+              <ExternalReference id="51831">
+                <Source>OMIM</Source>
+                <Reference>612839</Reference>
+              </ExternalReference>
+              <ExternalReference id="87998">
+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
+              </ExternalReference>
+              <ExternalReference id="51833">
+                <Source>SwissProt</Source>
+                <Reference>Q6N021</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="11465">
+                <GeneLocus>4q24</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13840">
+      <OrphaCode>98823</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98823</ExpertLink>
+      <Name lang="en">Chronic myelomonocytic leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8168137[PMID]_7742547[PMID]</SourceOfValidation>
+          <Gene id="16785">
+            <Name lang="en">platelet derived growth factor receptor beta</Name>
+            <Symbol>PDGFRB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD140b</Synonym>
+              <Synonym lang="en">JTK12</Synonym>
+              <Synonym lang="en">PDGFR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58605">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113721</Reference>
+              </ExternalReference>
+              <ExternalReference id="34923">
+                <Source>Genatlas</Source>
+                <Reference>PDGFRB</Reference>
+              </ExternalReference>
+              <ExternalReference id="34926">
+                <Source>HGNC</Source>
+                <Reference>8804</Reference>
+              </ExternalReference>
+              <ExternalReference id="83028">
+                <Source>IUPHAR</Source>
+                <Reference>1804</Reference>
+              </ExternalReference>
+              <ExternalReference id="34924">
+                <Source>OMIM</Source>
+                <Reference>173410</Reference>
+              </ExternalReference>
+              <ExternalReference id="58606">
+                <Source>Reactome</Source>
+                <Reference>P09619</Reference>
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+              <ExternalReference id="34925">
+                <Source>SwissProt</Source>
+                <Reference>P09619</Reference>
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+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>8168137[PMID]_7742547[PMID]</SourceOfValidation>
+          <Gene id="16866">
+            <Name lang="en">ETS variant transcription factor 6</Name>
+            <Symbol>ETV6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEL</Synonym>
+              <Synonym lang="en">TEL oncogene</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142917">
+                <Source>Reactome</Source>
+                <Reference>P41212</Reference>
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+              <ExternalReference id="58712">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+              <ExternalReference id="35287">
+                <Source>Genatlas</Source>
+                <Reference>ETV6</Reference>
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+              <ExternalReference id="35286">
+                <Source>HGNC</Source>
+                <Reference>3495</Reference>
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+              <ExternalReference id="35289">
+                <Source>OMIM</Source>
+                <Reference>600618</Reference>
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+              <ExternalReference id="35288">
+                <Source>SwissProt</Source>
+                <Reference>P41212</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31723789[PMID]</SourceOfValidation>
+          <Gene id="20545">
+            <Name lang="en">ASXL transcriptional regulator 1</Name>
+            <Symbol>ASXL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0978</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="126404">
+                <Source>Reactome</Source>
+                <Reference>Q8IXJ9</Reference>
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+              <ExternalReference id="59781">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171456</Reference>
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+              <ExternalReference id="54307">
+                <Source>Genatlas</Source>
+                <Reference>ASXL1</Reference>
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+              <ExternalReference id="54305">
+                <Source>HGNC</Source>
+                <Reference>18318</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612990</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8IXJ9</Reference>
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+                <GeneLocus>20q11.21</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31723789[PMID]</SourceOfValidation>
+          <Gene id="24947">
+            <Name lang="en">serine and arginine rich splicing factor 2</Name>
+            <Symbol>SRSF2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">SC-35</Synonym>
+              <Synonym lang="en">SC35</Synonym>
+              <Synonym lang="en">SFRS2A</Synonym>
+              <Synonym lang="en">SR splicing factor 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>600813</Reference>
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+              <ExternalReference id="133211">
+                <Source>SwissProt</Source>
+                <Reference>Q01130</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10783</Reference>
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+              <ExternalReference id="133474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161547</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q01130</Reference>
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+              <ExternalReference id="144206">
+                <Source>Genatlas</Source>
+                <Reference>SRSF2</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13841">
+      <OrphaCode>98824</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98824</ExpertLink>
+      <Name lang="en">Atypical chronic myeloid leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23656643[PMID]</SourceOfValidation>
+          <Gene id="17340">
+            <Name lang="en">colony stimulating factor 3 receptor</Name>
+            <Symbol>CSF3R</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">GCSFR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="100316">
+                <Source>Reactome</Source>
+                <Reference>Q99062</Reference>
+              </ExternalReference>
+              <ExternalReference id="60544">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119535</Reference>
+              </ExternalReference>
+              <ExternalReference id="36904">
+                <Source>Genatlas</Source>
+                <Reference>CSF3R</Reference>
+              </ExternalReference>
+              <ExternalReference id="36905">
+                <Source>HGNC</Source>
+                <Reference>2439</Reference>
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+              <ExternalReference id="83081">
+                <Source>IUPHAR</Source>
+                <Reference>1719</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138971</Reference>
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+              <ExternalReference id="36906">
+                <Source>SwissProt</Source>
+                <Reference>Q99062</Reference>
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+                <GeneLocus>1p34.3</GeneLocus>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13870">
+      <OrphaCode>98853</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98853</ExpertLink>
+      <Name lang="en">Autosomal dominant Emery-Dreifuss muscular dystrophy</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16364">
+            <Name lang="en">lamin A/C</Name>
+            <Symbol>LMNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HGPS</Synonym>
+              <Synonym lang="en">MADA</Synonym>
+              <Synonym lang="en">mandibuloacral dysplasia type A</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57460">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160789</Reference>
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+              <ExternalReference id="30964">
+                <Source>Genatlas</Source>
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+              <ExternalReference id="30962">
+                <Source>HGNC</Source>
+                <Reference>6636</Reference>
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+                <Source>OMIM</Source>
+                <Reference>150330</Reference>
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+              <ExternalReference id="57461">
+                <Source>Reactome</Source>
+                <Reference>P02545</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02545</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17290">
+            <Name lang="en">spectrin repeat containing nuclear envelope protein 1</Name>
+            <Symbol>SYNE1</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">8B</Synonym>
+              <Synonym lang="en">ARCA1</Synonym>
+              <Synonym lang="en">CPG2</Synonym>
+              <Synonym lang="en">Enaptin</Synonym>
+              <Synonym lang="en">KIAA0796</Synonym>
+              <Synonym lang="en">MYNE1</Synonym>
+              <Synonym lang="en">Nesp1</Synonym>
+              <Synonym lang="en">Nesprin-1</Synonym>
+              <Synonym lang="en">SCAR8</Synonym>
+              <Synonym lang="en">SYNE-1B</Synonym>
+              <Synonym lang="en">dJ45H2.2</Synonym>
+              <Synonym lang="en">enaptin</Synonym>
+              <Synonym lang="en">myocyte nuclear envelope protein 1</Synonym>
+              <Synonym lang="en">nuclear envelope spectrin repeat-1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000131018</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SYNE1</Reference>
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+              <ExternalReference id="36661">
+                <Source>HGNC</Source>
+                <Reference>17089</Reference>
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+              <ExternalReference id="36662">
+                <Source>OMIM</Source>
+                <Reference>608441</Reference>
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+              <ExternalReference id="58017">
+                <Source>Reactome</Source>
+                <Reference>Q8NF91</Reference>
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+              <ExternalReference id="36663">
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+                <Reference>Q8NF91</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21391237[PMID]</SourceOfValidation>
+          <Gene id="17348">
+            <Name lang="en">transmembrane protein 43</Name>
+            <Symbol>TMEM43</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DKFZp586G1919</Synonym>
+              <Synonym lang="en">LUMA</Synonym>
+              <Synonym lang="en">MGC3222</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143894">
+                <Source>Reactome</Source>
+                <Reference>Q9BTV4</Reference>
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+              <ExternalReference id="59837">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170876</Reference>
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+              <ExternalReference id="36947">
+                <Source>Genatlas</Source>
+                <Reference>TMEM43</Reference>
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+                <Reference>28472</Reference>
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+              <ExternalReference id="37586">
+                <Source>OMIM</Source>
+                <Reference>612048</Reference>
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+              <ExternalReference id="36949">
+                <Source>SwissProt</Source>
+                <Reference>Q9BTV4</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="18647">
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+            <Symbol>SYNE2</Symbol>
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+              <Synonym lang="en">DKFZP434H2235</Synonym>
+              <Synonym lang="en">KIAA1011</Synonym>
+              <Synonym lang="en">NUA</Synonym>
+              <Synonym lang="en">NUANCE</Synonym>
+              <Synonym lang="en">Nesp2</Synonym>
+              <Synonym lang="en">Nesprin-2</Synonym>
+              <Synonym lang="en">SYNE-2</Synonym>
+              <Synonym lang="en">nuclear envelope spectrin repeat-2</Synonym>
+              <Synonym lang="en">nucleus and actin connecting element</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>17084</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608442</Reference>
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+              <ExternalReference id="59836">
+                <Source>Reactome</Source>
+                <Reference>Q8WXH0</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WXH0</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Aggressive systemic mastocytosis</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">FLJ20032</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58667">
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+                <Reference>ENSG00000168769</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000168769</Reference>
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+              <ExternalReference id="51832">
+                <Source>Genatlas</Source>
+                <Reference>TET2</Reference>
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+              <ExternalReference id="51830">
+                <Source>HGNC</Source>
+                <Reference>25941</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612839</Reference>
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+              <ExternalReference id="87998">
+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
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+              <ExternalReference id="51833">
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+                <Reference>Q6N021</Reference>
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+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25567135[PMID]</SourceOfValidation>
+          <Gene id="24947">
+            <Name lang="en">serine and arginine rich splicing factor 2</Name>
+            <Symbol>SRSF2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">PR264</Synonym>
+              <Synonym lang="en">SC-35</Synonym>
+              <Synonym lang="en">SC35</Synonym>
+              <Synonym lang="en">SFRS2A</Synonym>
+              <Synonym lang="en">SR splicing factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Reference>600813</Reference>
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+              <ExternalReference id="133211">
+                <Source>SwissProt</Source>
+                <Reference>Q01130</Reference>
+              </ExternalReference>
+              <ExternalReference id="131764">
+                <Source>HGNC</Source>
+                <Reference>10783</Reference>
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+              <ExternalReference id="133474">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161547</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q01130</Reference>
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+              <ExternalReference id="144206">
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+                <Reference>SRSF2</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>25567135[PMID]</SourceOfValidation>
+          <Gene id="20545">
+            <Name lang="en">ASXL transcriptional regulator 1</Name>
+            <Symbol>ASXL1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0978</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q8IXJ9</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171456</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ASXL1</Reference>
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+              <ExternalReference id="54305">
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+                <Reference>18318</Reference>
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+              <ExternalReference id="54306">
+                <Source>OMIM</Source>
+                <Reference>612990</Reference>
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+              <ExternalReference id="55023">
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+                <Reference>Q8IXJ9</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13860">
+      <OrphaCode>98843</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98843</ExpertLink>
+      <Name lang="en">Classic Hodgkin lymphoma, nodular sclerosis type</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19706467[PMID]</SourceOfValidation>
+          <Gene id="25264">
+            <Name lang="en">kelch domain containing 8B</Name>
+            <Symbol>KLHDC8B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC35097</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="138367">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185909</Reference>
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+              <ExternalReference id="138368">
+                <Source>Genatlas</Source>
+                <Reference>KLHDC8B</Reference>
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+              <ExternalReference id="138369">
+                <Source>HGNC</Source>
+                <Reference>28557</Reference>
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+              <ExternalReference id="143083">
+                <Source>SwissProt</Source>
+                <Reference>Q8IXV7</Reference>
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+                <Reference>613169</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13856">
+      <OrphaCode>98839</OrphaCode>
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+      <Name lang="en">Intravascular large B-cell lymphoma</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
+          <Gene id="17194">
+            <Name lang="en">BCL6 transcription repressor</Name>
+            <Symbol>BCL6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BCL5</Synonym>
+              <Synonym lang="en">BCL6A</Synonym>
+              <Synonym lang="en">LAZ3</Synonym>
+              <Synonym lang="en">ZBTB27</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="100314">
+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>2957</Reference>
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+              <ExternalReference id="58914">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113916</Reference>
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+              <ExternalReference id="36242">
+                <Source>Genatlas</Source>
+                <Reference>BCL6</Reference>
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+                <Reference>1001</Reference>
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+              <ExternalReference id="36239">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19040469[PMID]</SourceOfValidation>
+          <Gene id="15362">
+            <Name lang="en">BCL2 apoptosis regulator</Name>
+            <Symbol>BCL2</Symbol>
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+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 50</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Lymphomatoid papulosis</Name>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Nucleophosmin/nucleoplasmin family, member 1</Synonym>
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+              <Synonym lang="en">nucleolar phosphoprotein B23</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">CXXC7</Synonym>
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+                <Reference>159555</Reference>
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+              <ExternalReference id="97235">
+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
+              </ExternalReference>
+              <ExternalReference id="33473">
+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+            <LocusList count="1">
+              <Locus id="60203">
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+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13885">
+      <OrphaCode>98868</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98868</ExpertLink>
+      <Name lang="en">Southeast Asian ovalocytosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23664421[PMID]_23339107[PMID]</SourceOfValidation>
+          <Gene id="15512">
+            <Name lang="en">solute carrier family 4 member 1 (Diego blood group)</Name>
+            <Symbol>SLC4A1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">CD233</Synonym>
+              <Synonym lang="en">FR</Synonym>
+              <Synonym lang="en">Froese blood group</Synonym>
+              <Synonym lang="en">RTA1A</Synonym>
+              <Synonym lang="en">SW</Synonym>
+              <Synonym lang="en">Swann blood group</Synonym>
+              <Synonym lang="en">WR</Synonym>
+              <Synonym lang="en">Wright blood group</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193654">
+                <Source>IUPHAR</Source>
+                <Reference>904</Reference>
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+              <ExternalReference id="26884">
+                <Source>OMIM</Source>
+                <Reference>109270</Reference>
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+              <ExternalReference id="58438">
+                <Source>Reactome</Source>
+                <Reference>P02730</Reference>
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+              <ExternalReference id="32483">
+                <Source>SwissProt</Source>
+                <Reference>P02730</Reference>
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+              <ExternalReference id="58437">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000004939</Reference>
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+              <ExternalReference id="26887">
+                <Source>Genatlas</Source>
+                <Reference>SLC4A1</Reference>
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+              <ExternalReference id="26885">
+                <Source>HGNC</Source>
+                <Reference>11027</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13886">
+      <OrphaCode>98869</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98869</ExpertLink>
+      <Name lang="en">Congenital dyserythropoietic anemia type I</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15417">
+            <Name lang="en">codanin 1</Name>
+            <Symbol>CDAN1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CDA-I</Synonym>
+              <Synonym lang="en">CDAI</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143943">
+                <Source>Reactome</Source>
+                <Reference>Q8IWY9</Reference>
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+              <ExternalReference id="59839">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140326</Reference>
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+              <ExternalReference id="26419">
+                <Source>Genatlas</Source>
+                <Reference>CDAN1</Reference>
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+              <ExternalReference id="26417">
+                <Source>HGNC</Source>
+                <Reference>1713</Reference>
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+              <ExternalReference id="26416">
+                <Source>OMIM</Source>
+                <Reference>607465</Reference>
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+              <ExternalReference id="32385">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWY9</Reference>
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+            <LocusList count="1">
+              <Locus id="39355">
+                <GeneLocus>15q15.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23716552[PMID]</SourceOfValidation>
+          <Gene id="22273">
+            <Name lang="en">CDAN1 interacting nuclease 1</Name>
+            <Symbol>CDIN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ22851</Synonym>
+              <Synonym lang="en">HH114</Synonym>
+              <Synonym lang="en">MGC11326</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="81381">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2V0</Reference>
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+              <ExternalReference id="83970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186073</Reference>
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+              <ExternalReference id="81380">
+                <Source>Genatlas</Source>
+                <Reference>C15orf41</Reference>
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+              <ExternalReference id="81379">
+                <Source>HGNC</Source>
+                <Reference>26929</Reference>
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+              <ExternalReference id="85367">
+                <Source>OMIM</Source>
+                <Reference>615626</Reference>
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+                <GeneLocus>15q14</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="29438">
+      <OrphaCode>589618</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=589618</ExpertLink>
+      <Name lang="en">Dystonia 28</Name>
+      <DisorderType id="21394">
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>27992417[PMID]</SourceOfValidation>
+          <Gene id="26669">
+            <Name lang="en">lysine methyltransferase 2B</Name>
+            <Symbol>KMT2B</Symbol>
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+              <Synonym lang="en">HRX2</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2B</Synonym>
+              <Synonym lang="en">KIAA0304</Synonym>
+              <Synonym lang="en">MLL1B</Synonym>
+              <Synonym lang="en">MLL2</Synonym>
+              <Synonym lang="en">MLL4</Synonym>
+              <Synonym lang="en">TRX2</Synonym>
+              <Synonym lang="en">WBP7</Synonym>
+              <Synonym lang="en">myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="156361">
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+                <Reference>15840</Reference>
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+              <ExternalReference id="200686">
+                <Source>SwissProt</Source>
+                <Reference>Q9UMN6</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2689</Reference>
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+              <ExternalReference id="156731">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000272333</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KMT2B</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606834</Reference>
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+                <GeneLocus>19q13.12</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>98870</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98870</ExpertLink>
+      <Name lang="en">Congenital dyserythropoietic anemia type III</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">kinesin family member 23</Name>
+            <Symbol>KIF23</Symbol>
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+              <Synonym lang="en">MKLP-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83903">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137807</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIF23</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6392</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605064</Reference>
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+              <ExternalReference id="83902">
+                <Source>Reactome</Source>
+                <Reference>Q02241</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q02241</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="31598">
+            <Name lang="en">Rac GTPase activating protein 1</Name>
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+            <SynonymList count="0">
+            </SynonymList>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)</Name>
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+              <Synonym lang="en">FLK2</Synonym>
+              <Synonym lang="en">STK1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>1807</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P36888</Reference>
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+          <SourceOfValidation>27069254[PMID]_29072953[PMID]_26276768[PMID]</SourceOfValidation>
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+            <Name lang="en">lysine methyltransferase 2A</Name>
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+              <Synonym lang="en">CXXC7</Synonym>
+              <Synonym lang="en">HRX</Synonym>
+              <Synonym lang="en">HTRX1</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
+              <Synonym lang="en">MLL1A</Synonym>
+              <Synonym lang="en">TRX1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>7132</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+      <Name lang="en">X-linked Emery-Dreifuss muscular dystrophy</Name>
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+            <Name lang="en">emerin</Name>
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+              <Synonym lang="en">LEM domain containing 5</Synonym>
+              <Synonym lang="en">LEMD5</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000102119</Reference>
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+                <Reference>300384</Reference>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">Four-and-a-half LIM domains 1</Synonym>
+              <Synonym lang="en">KYO-T</Synonym>
+              <Synonym lang="en">LIM protein SLIMMER</Synonym>
+              <Synonym lang="en">MGC111107</Synonym>
+              <Synonym lang="en">SLIM1</Synonym>
+              <Synonym lang="en">XMPMA</Synonym>
+              <Synonym lang="en">bA535K18.1</Synonym>
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+      <Name lang="en">Spinocerebellar ataxia type 45</Name>
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+            <Name lang="en">FAT atypical cadherin 2</Name>
+            <Symbol>FAT2</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">CDHR9</Synonym>
+              <Synonym lang="en">HFAT2</Synonym>
+              <Synonym lang="en">MEGF1</Synonym>
+              <Synonym lang="en">cadherin-related family member 9</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">glutamate ionotropic receptor NMDA type subunit 2B</Name>
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+      <Name lang="en">Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome</Name>
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+      <Name lang="en">Familial afibrinogenemia</Name>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23440719[PMID]</SourceOfValidation>
+          <Gene id="18980">
+            <Name lang="en">latent transforming growth factor beta binding protein 4</Name>
+            <Symbol>LTBP4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ46318</Synonym>
+              <Synonym lang="en">FLJ90018</Synonym>
+              <Synonym lang="en">LTBP-4</Synonym>
+              <Synonym lang="en">LTBP-4L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60360">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090006</Reference>
+              </ExternalReference>
+              <ExternalReference id="44494">
+                <Source>Genatlas</Source>
+                <Reference>LTBP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="44495">
+                <Source>HGNC</Source>
+                <Reference>6717</Reference>
+              </ExternalReference>
+              <ExternalReference id="44496">
+                <Source>OMIM</Source>
+                <Reference>604710</Reference>
+              </ExternalReference>
+              <ExternalReference id="83165">
+                <Source>Reactome</Source>
+                <Reference>Q8N2S1</Reference>
+              </ExternalReference>
+              <ExternalReference id="44497">
+                <Source>SwissProt</Source>
+                <Reference>Q8N2S1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66789">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17967">
+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13919">
+      <OrphaCode>98902</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98902</ExpertLink>
+      <Name lang="en">Amish nemaline myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10952871[PMID]</SourceOfValidation>
+          <Gene id="15639">
+            <Name lang="en">troponin T1, slow skeletal type</Name>
+            <Symbol>TNNT1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">ANM</Synonym>
+              <Synonym lang="en">FLJ98147</Synonym>
+              <Synonym lang="en">MGC104241</Synonym>
+              <Synonym lang="en">NEM5</Synonym>
+              <Synonym lang="en">STNT</Synonym>
+              <Synonym lang="en">TNT</Synonym>
+              <Synonym lang="en">TNTS</Synonym>
+              <Synonym lang="en">nemaline myopathy type 5</Synonym>
+              <Synonym lang="en">slow skeletal muscle troponin T</Synonym>
+              <Synonym lang="en">troponin T1, skeletal, slow</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59849">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105048</Reference>
+              </ExternalReference>
+              <ExternalReference id="27495">
+                <Source>Genatlas</Source>
+                <Reference>TNNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27493">
+                <Source>HGNC</Source>
+                <Reference>11948</Reference>
+              </ExternalReference>
+              <ExternalReference id="27492">
+                <Source>OMIM</Source>
+                <Reference>191041</Reference>
+              </ExternalReference>
+              <ExternalReference id="59850">
+                <Source>Reactome</Source>
+                <Reference>P13805</Reference>
+              </ExternalReference>
+              <ExternalReference id="32611">
+                <Source>SwissProt</Source>
+                <Reference>P13805</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="69363">
+                <GeneLocus>19q13.42</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13906">
+      <OrphaCode>98889</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98889</ExpertLink>
+      <Name lang="en">Bilateral perisylvian polymicrogyria</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16497722[PMID]</SourceOfValidation>
+          <Gene id="15557">
+            <Name lang="en">sushi repeat containing protein X-linked 2</Name>
+            <Symbol>SRPX2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SRPUL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102359</Reference>
+              </ExternalReference>
+              <ExternalReference id="27104">
+                <Source>Genatlas</Source>
+                <Reference>SRPX2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27102">
+                <Source>HGNC</Source>
+                <Reference>30668</Reference>
+              </ExternalReference>
+              <ExternalReference id="27101">
+                <Source>OMIM</Source>
+                <Reference>300642</Reference>
+              </ExternalReference>
+              <ExternalReference id="32528">
+                <Source>SwissProt</Source>
+                <Reference>O60687</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14425">
+                <GeneLocus>Xq22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24531968[PMID]</SourceOfValidation>
+          <Gene id="16164">
+            <Name lang="en">adhesion G protein-coupled receptor G1</Name>
+            <Symbol>ADGRG1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TM7LN4</Synonym>
+              <Synonym lang="en">TM7XN1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60019">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205336</Reference>
+              </ExternalReference>
+              <ExternalReference id="30020">
+                <Source>Genatlas</Source>
+                <Reference>GPR56</Reference>
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+              <ExternalReference id="30018">
+                <Source>HGNC</Source>
+                <Reference>4512</Reference>
+              </ExternalReference>
+              <ExternalReference id="82937">
+                <Source>IUPHAR</Source>
+                <Reference>186</Reference>
+              </ExternalReference>
+              <ExternalReference id="30017">
+                <Source>OMIM</Source>
+                <Reference>604110</Reference>
+              </ExternalReference>
+              <ExternalReference id="33183">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y653</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14921">
+                <GeneLocus>16q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25855803[PMID]</SourceOfValidation>
+          <Gene id="23283">
+            <Name lang="en">phosphatidylinositol 4-kinase alpha</Name>
+            <Symbol>PI4KA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PI4K-ALPHA</Synonym>
+              <Synonym lang="en">phosphatidylinositol 4-kinase III alpha</Synonym>
+              <Synonym lang="en">phosphatidylinositol 4-kinase IIIa</Synonym>
+              <Synonym lang="en">pi4K230</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="96012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241973</Reference>
+              </ExternalReference>
+              <ExternalReference id="96009">
+                <Source>Genatlas</Source>
+                <Reference>PI4KA</Reference>
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+              <ExternalReference id="96007">
+                <Source>HGNC</Source>
+                <Reference>8983</Reference>
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+              <ExternalReference id="96013">
+                <Source>IUPHAR</Source>
+                <Reference>2148</Reference>
+              </ExternalReference>
+              <ExternalReference id="96008">
+                <Source>OMIM</Source>
+                <Reference>600286</Reference>
+              </ExternalReference>
+              <ExternalReference id="96011">
+                <Source>Reactome</Source>
+                <Reference>P42356</Reference>
+              </ExternalReference>
+              <ExternalReference id="96010">
+                <Source>SwissProt</Source>
+                <Reference>P42356</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="15765">
+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13907">
+      <OrphaCode>98890</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98890</ExpertLink>
+      <Name lang="en">Early-onset X-linked optic atrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21418">
+            <Name lang="en">optic atrophy 2 (obscure)</Name>
+            <Symbol>OPA2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="71070">
+                <Source>HGNC</Source>
+                <Reference>8141</Reference>
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+            <LocusList count="1">
+              <Locus id="12105">
+                <GeneLocus>Xp11.4-p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13909">
+      <OrphaCode>98892</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98892</ExpertLink>
+      <Name lang="en">Periventricular nodular heterotopia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="7">
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+          <SourceOfValidation>14647276[PMID]_25160555[PMID]</SourceOfValidation>
+          <Gene id="15946">
+            <Name lang="en">ADP ribosylation factor guanine nucleotide exchange factor 2</Name>
+            <Symbol>ARFGEF2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BIG2</Synonym>
+              <Synonym lang="en">Brefeldin A-inhibited guanine nucleotide-exchange protein 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59847">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124198</Reference>
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+              <ExternalReference id="28930">
+                <Source>Genatlas</Source>
+                <Reference>ARFGEF2</Reference>
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+              <ExternalReference id="28932">
+                <Source>HGNC</Source>
+                <Reference>15853</Reference>
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+              <ExternalReference id="28931">
+                <Source>OMIM</Source>
+                <Reference>605371</Reference>
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+              <ExternalReference id="59848">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6D5</Reference>
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+              <ExternalReference id="32957">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6D5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301392[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
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+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
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+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
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+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24056535[PMID]</SourceOfValidation>
+          <Gene id="22489">
+            <Name lang="en">ER membrane associated RNA degradation</Name>
+            <Symbol>ERMARD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11152</Synonym>
+              <Synonym lang="en">dJ266L20.3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84070">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130023</Reference>
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+              <ExternalReference id="82416">
+                <Source>Genatlas</Source>
+                <Reference>C6orf70</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21056</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615532</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5T6L9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+          <SourceOfValidation>27694961[PMID]</SourceOfValidation>
+          <Gene id="24755">
+            <Name lang="en">NEDD4 like E3 ubiquitin protein ligase</Name>
+            <Symbol>NEDD4L</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0439</Synonym>
+              <Synonym lang="en">NEDD4-2</Synonym>
+              <Synonym lang="en">RSP5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>Q96PU5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7728</Reference>
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+                <Reference>606384</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>NEDD4L</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000049759</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q96PU5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28973161[PMID]</SourceOfValidation>
+          <Gene id="26043">
+            <Name lang="en">transmembrane O-mannosyltransferase targeting cadherins 3</Name>
+            <Symbol>TMTC3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ90492</Synonym>
+              <Synonym lang="en">SMILE</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>SwissProt</Source>
+                <Reference>Q6ZXV5</Reference>
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+              <ExternalReference id="151227">
+                <Source>HGNC</Source>
+                <Reference>26899</Reference>
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+              <ExternalReference id="151228">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139324</Reference>
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+                <Source>OMIM</Source>
+                <Reference>617218</Reference>
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+              <ExternalReference id="151231">
+                <Source>Genatlas</Source>
+                <Reference>TMTC3</Reference>
+              </ExternalReference>
+              <ExternalReference id="151232">
+                <Source>Reactome</Source>
+                <Reference>Q6ZXV5</Reference>
+              </ExternalReference>
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+                <GeneLocus>12q21.32</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28868155[PMID]</SourceOfValidation>
+          <Gene id="27691">
+            <Name lang="en">ADP ribosylation factor 1</Name>
+            <Symbol>ARF1</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="161191">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143761</Reference>
+              </ExternalReference>
+              <ExternalReference id="161192">
+                <Source>HGNC</Source>
+                <Reference>652</Reference>
+              </ExternalReference>
+              <ExternalReference id="161193">
+                <Source>SwissProt</Source>
+                <Reference>P84077</Reference>
+              </ExternalReference>
+              <ExternalReference id="161194">
+                <Source>Reactome</Source>
+                <Reference>P84077</Reference>
+              </ExternalReference>
+              <ExternalReference id="161195">
+                <Source>OMIM</Source>
+                <Reference>103180</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="50105">
+                <GeneLocus>1q42.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29738522[PMID]</SourceOfValidation>
+          <Gene id="27387">
+            <Name lang="en">microtubule associated protein 1B</Name>
+            <Symbol>MAP1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MAP5</Synonym>
+              <Synonym lang="en">PPP1R102</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 102</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="159519">
+                <Source>HGNC</Source>
+                <Reference>6836</Reference>
+              </ExternalReference>
+              <ExternalReference id="159520">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131711</Reference>
+              </ExternalReference>
+              <ExternalReference id="159521">
+                <Source>SwissProt</Source>
+                <Reference>P46821</Reference>
+              </ExternalReference>
+              <ExternalReference id="159522">
+                <Source>OMIM</Source>
+                <Reference>157129</Reference>
+              </ExternalReference>
+              <ExternalReference id="159523">
+                <Source>Genatlas</Source>
+                <Reference>MAP1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="159524">
+                <Source>Reactome</Source>
+                <Reference>P46821</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="13929">
+      <OrphaCode>98912</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98912</ExpertLink>
+      <Name lang="en">Late-onset distal myopathy, Markesbery-Griggs type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20809097[PMID]</SourceOfValidation>
+          <Gene id="16343">
+            <Name lang="en">LIM domain binding 3</Name>
+            <Symbol>LDB3</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">KIAA0613</Synonym>
+              <Synonym lang="en">PDLIM6</Synonym>
+              <Synonym lang="en">Z-band alternatively spliced PDZ motif protein</Synonym>
+              <Synonym lang="en">ZASP</Synonym>
+              <Synonym lang="en">cypher</Synonym>
+              <Synonym lang="en">oracle</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="57459">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122367</Reference>
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+              <ExternalReference id="30864">
+                <Source>Genatlas</Source>
+                <Reference>LDB3</Reference>
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+              <ExternalReference id="30866">
+                <Source>HGNC</Source>
+                <Reference>15710</Reference>
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+              <ExternalReference id="30865">
+                <Source>OMIM</Source>
+                <Reference>605906</Reference>
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+              <ExternalReference id="33408">
+                <Source>SwissProt</Source>
+                <Reference>O75112</Reference>
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+                <GeneLocus>10q23.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98911</ExpertLink>
+      <Name lang="en">Distal myotilinopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15111675[PMID]_16793270[PMID]_21361873[PMID]</SourceOfValidation>
+          <Gene id="16512">
+            <Name lang="en">myotilin</Name>
+            <Symbol>MYOT</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143086">
+                <Source>Reactome</Source>
+                <Reference>Q9UBF9</Reference>
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+              <ExternalReference id="58891">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120729</Reference>
+              </ExternalReference>
+              <ExternalReference id="31645">
+                <Source>Genatlas</Source>
+                <Reference>MYOT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12399</Reference>
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+              <ExternalReference id="31646">
+                <Source>OMIM</Source>
+                <Reference>604103</Reference>
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+              <ExternalReference id="33577">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBF9</Reference>
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+                <GeneLocus>5q31.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>98914</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98914</ExpertLink>
+      <Name lang="en">Presynaptic congenital myasthenic syndromes</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15442">
+            <Name lang="en">choline O-acetyltransferase</Name>
+            <Symbol>CHAT</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59863">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070748</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CHAT</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1912</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>IUPHAR</Source>
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+          <SourceOfValidation>22205389[PMID]_19631309[PMID]_20301347[PMID]</SourceOfValidation>
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+            <Name lang="en">agrin</Name>
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+              <Synonym lang="en">AGRIN</Synonym>
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+                <Source>Reactome</Source>
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+            <Name lang="en">solute carrier family 25 member 1</Name>
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+              <Synonym lang="en">CTP</Synonym>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">bA416N4.2</Synonym>
+              <Synonym lang="en">dJ1068F16.2</Synonym>
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+                <Source>Reactome</Source>
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+          <Gene id="25195">
+            <Name lang="en">myosin IXA</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115665</Reference>
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+                <Reference>ENSG00000139190</Reference>
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+              </ExternalReference>
+              <ExternalReference id="83518">
+                <Source>Reactome</Source>
+                <Reference>P23763</Reference>
+              </ExternalReference>
+              <ExternalReference id="73660">
+                <Source>SwissProt</Source>
+                <Reference>P23763</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25361">
+                <GeneLocus>12p13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27590285[PMID]</SourceOfValidation>
+          <Gene id="24906">
+            <Name lang="en">solute carrier family 18 member A3</Name>
+            <Symbol>SLC18A3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">VACHT</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="144041">
+                <Source>Genatlas</Source>
+                <Reference>SLC18A3</Reference>
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+              <ExternalReference id="132446">
+                <Source>OMIM</Source>
+                <Reference>600336</Reference>
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+              <ExternalReference id="133170">
+                <Source>SwissProt</Source>
+                <Reference>Q16572</Reference>
+              </ExternalReference>
+              <ExternalReference id="133700">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187714</Reference>
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+              <ExternalReference id="134532">
+                <Source>Reactome</Source>
+                <Reference>Q16572</Reference>
+              </ExternalReference>
+              <ExternalReference id="190785">
+                <Source>IUPHAR</Source>
+                <Reference>1013</Reference>
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+              <ExternalReference id="131723">
+                <Source>HGNC</Source>
+                <Reference>10936</Reference>
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+              <Locus id="60979">
+                <GeneLocus>10q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26626625[PMID]</SourceOfValidation>
+          <Gene id="23552">
+            <Name lang="en">collagen type XIII alpha 1 chain</Name>
+            <Symbol>COL13A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197467</Reference>
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+              <ExternalReference id="98185">
+                <Source>Genatlas</Source>
+                <Reference>COL13A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="98183">
+                <Source>HGNC</Source>
+                <Reference>2190</Reference>
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+              <ExternalReference id="98184">
+                <Source>OMIM</Source>
+                <Reference>120350</Reference>
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+              <ExternalReference id="98187">
+                <Source>Reactome</Source>
+                <Reference>Q5TAT6</Reference>
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+              <ExternalReference id="98186">
+                <Source>SwissProt</Source>
+                <Reference>Q5TAT6</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13930">
+      <OrphaCode>98913</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98913</ExpertLink>
+      <Name lang="en">Postsynaptic congenital myasthenic syndromes</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="16">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15187">
+            <Name lang="en">receptor associated protein of the synapse</Name>
+            <Symbol>RAPSN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMS1D</Synonym>
+              <Synonym lang="en">CMS1E</Synonym>
+              <Synonym lang="en">RNF205</Synonym>
+              <Synonym lang="en">rapsyn</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="25325">
+                <Source>HGNC</Source>
+                <Reference>9863</Reference>
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+              <ExternalReference id="25324">
+                <Source>OMIM</Source>
+                <Reference>601592</Reference>
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+              <ExternalReference id="33711">
+                <Source>SwissProt</Source>
+                <Reference>Q13702</Reference>
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+              <ExternalReference id="58006">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165917</Reference>
+              </ExternalReference>
+              <ExternalReference id="25323">
+                <Source>Genatlas</Source>
+                <Reference>RAPSN</Reference>
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+              <Locus id="6941">
+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15253">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 4</Name>
+            <Symbol>SCN4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HYPP</Synonym>
+              <Synonym lang="en">Nav1.4</Synonym>
+              <Synonym lang="en">SkM1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="25633">
+                <Source>Genatlas</Source>
+                <Reference>SCN4A</Reference>
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+              <ExternalReference id="25631">
+                <Source>HGNC</Source>
+                <Reference>10591</Reference>
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+              <ExternalReference id="82771">
+                <Source>IUPHAR</Source>
+                <Reference>581</Reference>
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+              <ExternalReference id="25630">
+                <Source>OMIM</Source>
+                <Reference>603967</Reference>
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+              <ExternalReference id="56757">
+                <Source>Reactome</Source>
+                <Reference>P35499</Reference>
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+              <ExternalReference id="33811">
+                <Source>SwissProt</Source>
+                <Reference>P35499</Reference>
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+              <ExternalReference id="56756">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007314</Reference>
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+            <LocusList count="1">
+              <Locus id="7067">
+                <GeneLocus>17q23.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15447">
+            <Name lang="en">cholinergic receptor nicotinic alpha 1 subunit</Name>
+            <Symbol>CHRNA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 1 (muscle)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138435</Reference>
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+              <ExternalReference id="26564">
+                <Source>Genatlas</Source>
+                <Reference>CHRNA1</Reference>
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+              <ExternalReference id="26562">
+                <Source>HGNC</Source>
+                <Reference>1955</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>462</Reference>
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+              <ExternalReference id="26561">
+                <Source>OMIM</Source>
+                <Reference>100690</Reference>
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+              <ExternalReference id="58953">
+                <Source>Reactome</Source>
+                <Reference>P02708</Reference>
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+              <ExternalReference id="32416">
+                <Source>SwissProt</Source>
+                <Reference>P02708</Reference>
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+              <Locus id="7425">
+                <GeneLocus>2q31.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15447">
+            <Name lang="en">cholinergic receptor nicotinic alpha 1 subunit</Name>
+            <Symbol>CHRNA1</Symbol>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 1 (muscle)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58952">
+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>462</Reference>
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+                <Source>OMIM</Source>
+                <Reference>100690</Reference>
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+              <ExternalReference id="58953">
+                <Source>Reactome</Source>
+                <Reference>P02708</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P02708</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15449">
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+            <Symbol>CHRNB1</Symbol>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, beta 1 (muscle)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59858">
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>471</Reference>
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+                <Source>OMIM</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15449">
+            <Name lang="en">cholinergic receptor nicotinic beta 1 subunit</Name>
+            <Symbol>CHRNB1</Symbol>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, beta 1 (muscle)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170175</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>100710</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11230</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15450">
+            <Name lang="en">cholinergic receptor nicotinic delta subunit</Name>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, delta (muscle)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58955">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135902</Reference>
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+              <ExternalReference id="36768">
+                <Source>Genatlas</Source>
+                <Reference>CHRND</Reference>
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+              <ExternalReference id="26577">
+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>476</Reference>
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+                <Source>OMIM</Source>
+                <Reference>100720</Reference>
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+              <ExternalReference id="58956">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q07001</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15450">
+            <Name lang="en">cholinergic receptor nicotinic delta subunit</Name>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, delta (muscle)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58955">
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+                <Reference>ENSG00000135902</Reference>
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+                <Reference>476</Reference>
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+                <Source>OMIM</Source>
+                <Reference>100720</Reference>
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+              <ExternalReference id="58956">
+                <Source>Reactome</Source>
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+              <ExternalReference id="32419">
+                <Source>SwissProt</Source>
+                <Reference>Q07001</Reference>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15451">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108556</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+              <ExternalReference id="59861">
+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="15451">
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+                <Source>SwissProt</Source>
+                <Reference>Q04844</Reference>
+              </ExternalReference>
+              <ExternalReference id="59860">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108556</Reference>
+              </ExternalReference>
+              <ExternalReference id="26583">
+                <Source>Genatlas</Source>
+                <Reference>CHRNE</Reference>
+              </ExternalReference>
+              <ExternalReference id="26581">
+                <Source>HGNC</Source>
+                <Reference>1966</Reference>
+              </ExternalReference>
+              <ExternalReference id="82814">
+                <Source>IUPHAR</Source>
+                <Reference>477</Reference>
+              </ExternalReference>
+              <ExternalReference id="26580">
+                <Source>OMIM</Source>
+                <Reference>100725</Reference>
+              </ExternalReference>
+              <ExternalReference id="59861">
+                <Source>Reactome</Source>
+                <Reference>Q04844</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="15884">
+            <Name lang="en">docking protein 7</Name>
+            <Symbol>DOK7</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Dok-7</Synonym>
+              <Synonym lang="en">FLJ33718</Synonym>
+              <Synonym lang="en">FLJ39137</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143006">
+                <Source>Reactome</Source>
+                <Reference>Q18PE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="58005">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175920</Reference>
+              </ExternalReference>
+              <ExternalReference id="28646">
+                <Source>Genatlas</Source>
+                <Reference>DOK7</Reference>
+              </ExternalReference>
+              <ExternalReference id="28644">
+                <Source>HGNC</Source>
+                <Reference>26594</Reference>
+              </ExternalReference>
+              <ExternalReference id="28643">
+                <Source>OMIM</Source>
+                <Reference>610285</Reference>
+              </ExternalReference>
+              <ExternalReference id="32895">
+                <Source>SwissProt</Source>
+                <Reference>Q18PE1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>4p16.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301347[PMID]</SourceOfValidation>
+          <Gene id="17474">
+            <Name lang="en">muscle associated receptor tyrosine kinase</Name>
+            <Symbol>MUSK</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000030304</Reference>
+              </ExternalReference>
+              <ExternalReference id="38244">
+                <Source>Genatlas</Source>
+                <Reference>MUSK</Reference>
+              </ExternalReference>
+              <ExternalReference id="38245">
+                <Source>HGNC</Source>
+                <Reference>7525</Reference>
+              </ExternalReference>
+              <ExternalReference id="83102">
+                <Source>IUPHAR</Source>
+                <Reference>1847</Reference>
+              </ExternalReference>
+              <ExternalReference id="38246">
+                <Source>OMIM</Source>
+                <Reference>601296</Reference>
+              </ExternalReference>
+              <ExternalReference id="83101">
+                <Source>Reactome</Source>
+                <Reference>O15146</Reference>
+              </ExternalReference>
+              <ExternalReference id="38247">
+                <Source>SwissProt</Source>
+                <Reference>O15146</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>9q31.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24234652[PMID]</SourceOfValidation>
+          <Gene id="19230">
+            <Name lang="en">LDL receptor related protein 4</Name>
+            <Symbol>LRP4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLSS</Synonym>
+              <Synonym lang="en">LRP-4</Synonym>
+              <Synonym lang="en">MEGF7</Synonym>
+              <Synonym lang="en">SOST2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58363">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134569</Reference>
+              </ExternalReference>
+              <ExternalReference id="46572">
+                <Source>Genatlas</Source>
+                <Reference>LRP4</Reference>
+              </ExternalReference>
+              <ExternalReference id="46571">
+                <Source>HGNC</Source>
+                <Reference>6696</Reference>
+              </ExternalReference>
+              <ExternalReference id="46574">
+                <Source>OMIM</Source>
+                <Reference>604270</Reference>
+              </ExternalReference>
+              <ExternalReference id="83178">
+                <Source>Reactome</Source>
+                <Reference>O75096</Reference>
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+              <ExternalReference id="46573">
+                <Source>SwissProt</Source>
+                <Reference>O75096</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
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+                <GeneLocus>11p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22205389[PMID]_19631309[PMID]_20301347[PMID]</SourceOfValidation>
+          <Gene id="19233">
+            <Name lang="en">agrin</Name>
+            <Symbol>AGRN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AGRIN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59855">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188157</Reference>
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+              <ExternalReference id="46586">
+                <Source>Genatlas</Source>
+                <Reference>AGRN</Reference>
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+              <ExternalReference id="46587">
+                <Source>HGNC</Source>
+                <Reference>329</Reference>
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+                <Source>OMIM</Source>
+                <Reference>103320</Reference>
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+              <ExternalReference id="59856">
+                <Source>Reactome</Source>
+                <Reference>O00468</Reference>
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+              <ExternalReference id="46588">
+                <Source>SwissProt</Source>
+                <Reference>O00468</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27966543[PMID]</SourceOfValidation>
+          <Gene id="25315">
+            <Name lang="en">adenylate kinase 9</Name>
+            <Symbol>AK9</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ25791</Synonym>
+              <Synonym lang="en">FLJ42177</Synonym>
+              <Synonym lang="en">MGC26954</Synonym>
+              <Synonym lang="en">dJ70A9.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="141188">
+                <Source>SwissProt</Source>
+                <Reference>Q5TCS8</Reference>
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+                <Source>OMIM</Source>
+                <Reference>615358</Reference>
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+              <ExternalReference id="141190">
+                <Source>Reactome</Source>
+                <Reference>R-HSA-6788784</Reference>
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+              <ExternalReference id="141186">
+                <Source>HGNC</Source>
+                <Reference>33814</Reference>
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+              <ExternalReference id="141187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155085</Reference>
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+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26626625[PMID]</SourceOfValidation>
+          <Gene id="23552">
+            <Name lang="en">collagen type XIII alpha 1 chain</Name>
+            <Symbol>COL13A1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98188">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000197467</Reference>
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+              <ExternalReference id="98185">
+                <Source>Genatlas</Source>
+                <Reference>COL13A1</Reference>
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+              <ExternalReference id="98183">
+                <Source>HGNC</Source>
+                <Reference>2190</Reference>
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+              <ExternalReference id="98184">
+                <Source>OMIM</Source>
+                <Reference>120350</Reference>
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+              <ExternalReference id="98187">
+                <Source>Reactome</Source>
+                <Reference>Q5TAT6</Reference>
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+              <ExternalReference id="98186">
+                <Source>SwissProt</Source>
+                <Reference>Q5TAT6</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>10q22.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13933">
+      <OrphaCode>98916</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98916</ExpertLink>
+      <Name lang="en">Acute inflammatory demyelinating polyradiculoneuropathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="15114">
+            <Name lang="en">peripheral myelin protein 22</Name>
+            <Symbol>PMP22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
+              <Synonym lang="en">HNPP</Synonym>
+              <Synonym lang="en">Sp110</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143117">
+                <Source>Reactome</Source>
+                <Reference>Q01453</Reference>
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+              <ExternalReference id="56949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
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+              <ExternalReference id="24974">
+                <Source>Genatlas</Source>
+                <Reference>PMP22</Reference>
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+              <ExternalReference id="24976">
+                <Source>HGNC</Source>
+                <Reference>9118</Reference>
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+              <ExternalReference id="24975">
+                <Source>OMIM</Source>
+                <Reference>601097</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01453</Reference>
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+      <OrphaCode>98915</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98915</ExpertLink>
+      <Name lang="en">Synaptic congenital myasthenic syndromes</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">collagen like tail subunit of asymmetric acetylcholinesterase</Name>
+            <Symbol>COLQ</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">AChE Q subunit</Synonym>
+              <Synonym lang="en">EAD</Synonym>
+              <Synonym lang="en">acetylcholinesterase-associated collagen</Synonym>
+              <Synonym lang="en">collagenic tail of endplate acetylcholinesterase</Synonym>
+              <Synonym lang="en">single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59865">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206561</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COLQ</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2226</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603033</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y215</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">laminin subunit beta 2</Name>
+            <Symbol>LAMB2</Symbol>
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+              <Synonym lang="en">NPHS5</Synonym>
+              <Synonym lang="en">laminin S</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>6487</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P55268</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Congenital myopathy with excess of thin filaments</Name>
+      <DisorderType id="21394">
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+          <Gene id="15075">
+            <Name lang="en">actin alpha 1, skeletal muscle</Name>
+            <Symbol>ACTA1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NEM3</Synonym>
+              <Synonym lang="en">nemaline myopathy type 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="24783">
+                <Source>OMIM</Source>
+                <Reference>102610</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P68133</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143632</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTA1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="13922">
+      <OrphaCode>98905</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98905</ExpertLink>
+      <Name lang="en">Congenital multicore myopathy with external ophthalmoplegia</Name>
+      <DisorderType id="21450">
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+      </DisorderType>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15237">
+            <Name lang="en">ryanodine receptor 1</Name>
+            <Symbol>RYR1</Symbol>
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+              <Synonym lang="en">PPP1R137</Synonym>
+              <Synonym lang="en">RYR</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 137</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196218</Reference>
+              </ExternalReference>
+              <ExternalReference id="25557">
+                <Source>Genatlas</Source>
+                <Reference>RYR1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25555">
+                <Source>HGNC</Source>
+                <Reference>10483</Reference>
+              </ExternalReference>
+              <ExternalReference id="82766">
+                <Source>IUPHAR</Source>
+                <Reference>747</Reference>
+              </ExternalReference>
+              <ExternalReference id="25554">
+                <Source>OMIM</Source>
+                <Reference>180901</Reference>
+              </ExternalReference>
+              <ExternalReference id="82765">
+                <Source>Reactome</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+              <ExternalReference id="33795">
+                <Source>SwissProt</Source>
+                <Reference>P21817</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="15855">
+                <GeneLocus>19q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13925">
+      <OrphaCode>98908</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98908</ExpertLink>
+      <Name lang="en">Neutral lipid storage myopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17187067[PMID]</SourceOfValidation>
+          <Gene id="16794">
+            <Name lang="en">patatin like phospholipase domain containing 2</Name>
+            <Symbol>PNPLA2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ATGL</Synonym>
+              <Synonym lang="en">FP17548</Synonym>
+              <Synonym lang="en">TTS-2.2</Synonym>
+              <Synonym lang="en">desnutrin</Synonym>
+              <Synonym lang="en">iPLA2zeta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59853">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177666</Reference>
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+              <ExternalReference id="34970">
+                <Source>Genatlas</Source>
+                <Reference>PNPLA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="34967">
+                <Source>HGNC</Source>
+                <Reference>30802</Reference>
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+              <ExternalReference id="51932">
+                <Source>OMIM</Source>
+                <Reference>609059</Reference>
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+              <ExternalReference id="83029">
+                <Source>Reactome</Source>
+                <Reference>Q96AD5</Reference>
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+              <ExternalReference id="34969">
+                <Source>SwissProt</Source>
+                <Reference>Q96AD5</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13924">
+      <OrphaCode>98907</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98907</ExpertLink>
+      <Name lang="en">Neutral lipid storage disease with ichthyosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>18606822[PMID]</SourceOfValidation>
+          <Gene id="15061">
+            <Name lang="en">abhydrolase domain containing 5, lysophosphatidic acid acyltransferase</Name>
+            <Symbol>ABHD5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CGI-58</Synonym>
+              <Synonym lang="en">NCIE2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59851">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011198</Reference>
+              </ExternalReference>
+              <ExternalReference id="24717">
+                <Source>Genatlas</Source>
+                <Reference>ABHD5</Reference>
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+              <ExternalReference id="24715">
+                <Source>HGNC</Source>
+                <Reference>21396</Reference>
+              </ExternalReference>
+              <ExternalReference id="24714">
+                <Source>OMIM</Source>
+                <Reference>604780</Reference>
+              </ExternalReference>
+              <ExternalReference id="59852">
+                <Source>Reactome</Source>
+                <Reference>Q8WTS1</Reference>
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+              <ExternalReference id="32338">
+                <Source>SwissProt</Source>
+                <Reference>Q8WTS1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13926">
+      <OrphaCode>98909</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98909</ExpertLink>
+      <Name lang="en">Desminopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11668632[PMID]</SourceOfValidation>
+          <Gene id="15858">
+            <Name lang="en">desmin</Name>
+            <Symbol>DES</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMD1I</Synonym>
+              <Synonym lang="en">CSM1</Synonym>
+              <Synonym lang="en">CSM2</Synonym>
+              <Synonym lang="en">intermediate filament protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57450">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000175084</Reference>
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+              <ExternalReference id="28525">
+                <Source>Genatlas</Source>
+                <Reference>DES</Reference>
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+              <ExternalReference id="28523">
+                <Source>HGNC</Source>
+                <Reference>2770</Reference>
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+              <ExternalReference id="28522">
+                <Source>OMIM</Source>
+                <Reference>125660</Reference>
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+              <ExternalReference id="57451">
+                <Source>Reactome</Source>
+                <Reference>P17661</Reference>
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+              <ExternalReference id="32869">
+                <Source>SwissProt</Source>
+                <Reference>P17661</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13950">
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+      <Name lang="en">Multiple system atrophy, parkinsonian type</Name>
+      <DisorderType id="21450">
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>23758206[PMID]</SourceOfValidation>
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+            <Name lang="en">coenzyme Q2, polyprenyltransferase</Name>
+            <Symbol>COQ2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">4-hydroxybenzoate polyprenyltransferase</Synonym>
+              <Synonym lang="en">CL640</Synonym>
+              <Synonym lang="en">FLJ26072</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="60078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173085</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>COQ2</Reference>
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+              <ExternalReference id="28193">
+                <Source>HGNC</Source>
+                <Reference>25223</Reference>
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+              <ExternalReference id="28192">
+                <Source>OMIM</Source>
+                <Reference>609825</Reference>
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+              <ExternalReference id="60079">
+                <Source>Reactome</Source>
+                <Reference>Q96H96</Reference>
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+              <ExternalReference id="32760">
+                <Source>SwissProt</Source>
+                <Reference>Q96H96</Reference>
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+      <Name lang="en">Huntington disease-like 2</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16282">
+            <Name lang="en">junctophilin 3</Name>
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+              <Synonym lang="en">JP3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000154118</Reference>
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+                <Source>HGNC</Source>
+                <Reference>14203</Reference>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">Spinal muscular atrophy with respiratory distress type 1</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">immunoglobulin mu DNA binding protein 2</Name>
+            <Symbol>IGHMBP2</Symbol>
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+              <Synonym lang="en">CMT2S</Synonym>
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+              <Synonym lang="en">HMN6</Synonym>
+              <Synonym lang="en">SMARD1</Synonym>
+              <Synonym lang="en">SMUBP2</Synonym>
+              <Synonym lang="en">ZFAND7</Synonym>
+              <Synonym lang="en">cardiac transcription factor 1</Synonym>
+              <Synonym lang="en">zinc finger, AN1-type domain 7</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000132740</Reference>
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+                <Reference>IGHMBP2</Reference>
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+                <Reference>5542</Reference>
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+      <Name lang="en">Coloboma of choroid and retina</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+            <Name lang="en">actin gamma 1</Name>
+            <Symbol>ACTG1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184009</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ACTG1</Reference>
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+                <Reference>144</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P63261</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13467</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
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+            <Name lang="en">spalt like transcription factor 2</Name>
+            <Symbol>SALL2</Symbol>
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+              <Synonym lang="en">KIAA0360</Synonym>
+              <Synonym lang="en">ZNF795</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000165821</Reference>
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+                <Reference>10526</Reference>
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+                <Reference>602219</Reference>
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+                <Reference>Q9Y467</Reference>
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+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
+            <Symbol>ABCB6</Symbol>
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+              <Synonym lang="en">ATP-binding cassette half-transporter</Synonym>
+              <Synonym lang="en">EST45597</Synonym>
+              <Synonym lang="en">MTABC3</Synonym>
+              <Synonym lang="en">umat</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60682">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115657</Reference>
+              </ExternalReference>
+              <ExternalReference id="60680">
+                <Source>Genatlas</Source>
+                <Reference>ABCB6</Reference>
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+              <ExternalReference id="60678">
+                <Source>HGNC</Source>
+                <Reference>47</Reference>
+              </ExternalReference>
+              <ExternalReference id="60679">
+                <Source>OMIM</Source>
+                <Reference>605452</Reference>
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+              <ExternalReference id="83240">
+                <Source>Reactome</Source>
+                <Reference>Q9NP58</Reference>
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+              <ExternalReference id="60681">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
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+              <ExternalReference id="190530">
+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="60469">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12721955[PMID]_16604056[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
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+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
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+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
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+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
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+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
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+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
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+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="13955">
+      <OrphaCode>98938</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98938</ExpertLink>
+      <Name lang="en">Colobomatous microphthalmia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="14">
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+          <SourceOfValidation>12503095[PMID]</SourceOfValidation>
+          <Gene id="15290">
+            <Name lang="en">sonic hedgehog signaling molecule</Name>
+            <Symbol>SHH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HHG1</Synonym>
+              <Synonym lang="en">MCOPCB5</Synonym>
+              <Synonym lang="en">SMMCI</Synonym>
+              <Synonym lang="en">TPT</Synonym>
+              <Synonym lang="en">TPTPS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57397">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164690</Reference>
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+              <ExternalReference id="25811">
+                <Source>Genatlas</Source>
+                <Reference>SHH</Reference>
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+              <ExternalReference id="25809">
+                <Source>HGNC</Source>
+                <Reference>10848</Reference>
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+              <ExternalReference id="25808">
+                <Source>OMIM</Source>
+                <Reference>600725</Reference>
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+              <ExternalReference id="57398">
+                <Source>Reactome</Source>
+                <Reference>Q15465</Reference>
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+              <ExternalReference id="33848">
+                <Source>SwissProt</Source>
+                <Reference>Q15465</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21901792[PMID]</SourceOfValidation>
+          <Gene id="16806">
+            <Name lang="en">signaling receptor and transporter of retinol STRA6</Name>
+            <Symbol>STRA6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ12541</Synonym>
+              <Synonym lang="en">RBP receptor</Synonym>
+              <Synonym lang="en">retinol binding protein 4 receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58211">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000137868</Reference>
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+              <ExternalReference id="35029">
+                <Source>Genatlas</Source>
+                <Reference>STRA6</Reference>
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+              <ExternalReference id="35028">
+                <Source>HGNC</Source>
+                <Reference>30650</Reference>
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+              <ExternalReference id="35031">
+                <Source>OMIM</Source>
+                <Reference>610745</Reference>
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+              <ExternalReference id="83030">
+                <Source>Reactome</Source>
+                <Reference>Q9BX79</Reference>
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+              <ExternalReference id="35030">
+                <Source>SwissProt</Source>
+                <Reference>Q9BX79</Reference>
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+                <GeneLocus>15q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15257456[PMID]</SourceOfValidation>
+          <Gene id="17315">
+            <Name lang="en">visual system homeobox 2</Name>
+            <Symbol>VSX2</Symbol>
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+              <Synonym lang="en">RET1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58226">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119614</Reference>
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+              <ExternalReference id="36785">
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+                <Source>HGNC</Source>
+                <Reference>1975</Reference>
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+              <ExternalReference id="36787">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19864492[PMID]</SourceOfValidation>
+          <Gene id="18660">
+            <Name lang="en">growth differentiation factor 6</Name>
+            <Symbol>GDF6</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BMP13</Synonym>
+              <Synonym lang="en">KFS</Synonym>
+              <Synonym lang="en">KFS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156466</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>4221</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601147</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19864492[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NR23</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184344</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>Q9NP58</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">SIX homeobox 6</Name>
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+                <Reference>8522</Reference>
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+              <ExternalReference id="32058">
+                <Source>OMIM</Source>
+                <Reference>600037</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="9561">
+                <GeneLocus>14q22.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24033328[PMID]</SourceOfValidation>
+          <Gene id="17439">
+            <Name lang="en">retina and anterior neural fold homeobox</Name>
+            <Symbol>RAX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58699">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134438</Reference>
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+              <ExternalReference id="37903">
+                <Source>Genatlas</Source>
+                <Reference>RAX</Reference>
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+              <ExternalReference id="37904">
+                <Source>HGNC</Source>
+                <Reference>18662</Reference>
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+              <ExternalReference id="37905">
+                <Source>OMIM</Source>
+                <Reference>601881</Reference>
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+              <ExternalReference id="37906">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2V3</Reference>
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+            <LocusList count="1">
+              <Locus id="24681">
+                <GeneLocus>18q21.32</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23312594[PMID]</SourceOfValidation>
+          <Gene id="21892">
+            <Name lang="en">aldehyde dehydrogenase 1 family member A3</Name>
+            <Symbol>ALDH1A3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RALDH3</Synonym>
+              <Synonym lang="en">Retinaldehyde dehydrogenase 3</Synonym>
+              <Synonym lang="en">retinaldehyde dehydrogenase 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83700">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184254</Reference>
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+              <ExternalReference id="77789">
+                <Source>Genatlas</Source>
+                <Reference>ALDH1A3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>409</Reference>
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+              <ExternalReference id="77788">
+                <Source>OMIM</Source>
+                <Reference>600463</Reference>
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+              <ExternalReference id="97341">
+                <Source>Reactome</Source>
+                <Reference>P47895</Reference>
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+              <ExternalReference id="77790">
+                <Source>SwissProt</Source>
+                <Reference>P47895</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>15q26.3</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33111437[PMID]</SourceOfValidation>
+          <Gene id="17296">
+            <Name lang="en">porcupine O-acyltransferase</Name>
+            <Symbol>PORCN</Symbol>
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+              <Synonym lang="en">MG61</Synonym>
+              <Synonym lang="en">PORC</Synonym>
+              <Synonym lang="en">PPN</Synonym>
+              <Synonym lang="en">por</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="190420">
+                <Source>IUPHAR</Source>
+                <Reference>3145</Reference>
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+              <ExternalReference id="58051">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102312</Reference>
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+              <ExternalReference id="36692">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>17652</Reference>
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+              <ExternalReference id="36694">
+                <Source>OMIM</Source>
+                <Reference>300651</Reference>
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+              <ExternalReference id="83068">
+                <Source>Reactome</Source>
+                <Reference>Q9H237</Reference>
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+              <ExternalReference id="36695">
+                <Source>SwissProt</Source>
+                <Reference>Q9H237</Reference>
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+                <GeneLocus>Xp11.23</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13966">
+      <OrphaCode>98949</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98949</ExpertLink>
+      <Name lang="en">Complete cryptophthalmia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29688405[PMID]</SourceOfValidation>
+          <Gene id="16072">
+            <Name lang="en">FRAS1 related extracellular matrix 2</Name>
+            <Symbol>FREM2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DKFZp686J0811</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="29573">
+                <Source>HGNC</Source>
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+              <ExternalReference id="29572">
+                <Source>OMIM</Source>
+                <Reference>608945</Reference>
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+              <ExternalReference id="33087">
+                <Source>SwissProt</Source>
+                <Reference>Q5SZK8</Reference>
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+              <ExternalReference id="57952">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150893</Reference>
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+              <ExternalReference id="36924">
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+                <Reference>FREM2</Reference>
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+            <LocusList count="1">
+              <Locus id="8587">
+                <GeneLocus>13q13.3</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13964">
+      <OrphaCode>98947</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98947</ExpertLink>
+      <Name lang="en">Coloboma of optic disc</Name>
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+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+            <Name lang="en">frizzled class receptor 5</Name>
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+              <Synonym lang="en">DKFZP434E2135</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Reference>FZD5</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13467</Reference>
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+              <ExternalReference id="125311">
+                <Source>Reactome</Source>
+                <Reference>Q13467</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>233</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24412933[PMID]</SourceOfValidation>
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+            <Name lang="en">spalt like transcription factor 2</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+          <SourceOfValidation>12721955[PMID]_16604056[PMID]</SourceOfValidation>
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+            <SynonymList count="6">
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+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q13467</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
+              </ExternalReference>
+              <ExternalReference id="190530">
+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60469">
+                <GeneLocus>2q35</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12721955[PMID]_16604056[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000007372</Reference>
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+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
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+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
+                <Reference>8620</Reference>
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+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
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+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9587">
+                <GeneLocus>11p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13963">
+      <OrphaCode>98946</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98946</ExpertLink>
+      <Name lang="en">Coloboma of eyelid</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26908622[PMID]</SourceOfValidation>
+          <Gene id="24030">
+            <Name lang="en">frizzled class receptor 5</Name>
+            <Symbol>FZD5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DKFZP434E2135</Synonym>
+              <Synonym lang="en">HFZ5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="125307">
+                <Source>HGNC</Source>
+                <Reference>4043</Reference>
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+              <ExternalReference id="125308">
+                <Source>OMIM</Source>
+                <Reference>601723</Reference>
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+              <ExternalReference id="125309">
+                <Source>Genatlas</Source>
+                <Reference>FZD5</Reference>
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+              <ExternalReference id="125310">
+                <Source>SwissProt</Source>
+                <Reference>Q13467</Reference>
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+              <ExternalReference id="125311">
+                <Source>Reactome</Source>
+                <Reference>Q13467</Reference>
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+              <ExternalReference id="125312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
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+              <ExternalReference id="125313">
+                <Source>IUPHAR</Source>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24412933[PMID]</SourceOfValidation>
+          <Gene id="22887">
+            <Name lang="en">spalt like transcription factor 2</Name>
+            <Symbol>SALL2</Symbol>
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+              <Synonym lang="en">Hsal2</Synonym>
+              <Synonym lang="en">KIAA0360</Synonym>
+              <Synonym lang="en">ZNF795</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165821</Reference>
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+              <ExternalReference id="89950">
+                <Source>Genatlas</Source>
+                <Reference>SALL2</Reference>
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+              <ExternalReference id="89948">
+                <Source>HGNC</Source>
+                <Reference>10526</Reference>
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+              <ExternalReference id="89949">
+                <Source>OMIM</Source>
+                <Reference>602219</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y467</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y467</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>14q11.2</GeneLocus>
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22226084[PMID]</SourceOfValidation>
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+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
+            <Symbol>ABCB6</Symbol>
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+              <Synonym lang="en">ATP-binding cassette half-transporter</Synonym>
+              <Synonym lang="en">EST45597</Synonym>
+              <Synonym lang="en">MTABC3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115657</Reference>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="60679">
+                <Source>OMIM</Source>
+                <Reference>605452</Reference>
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+              <ExternalReference id="83240">
+                <Source>Reactome</Source>
+                <Reference>Q9NP58</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="32123">
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
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+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98943</ExpertLink>
+      <Name lang="en">Coloboma of eye lens</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q13467</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+                <Reference>601723</Reference>
+              </ExternalReference>
+              <ExternalReference id="125309">
+                <Source>Genatlas</Source>
+                <Reference>FZD5</Reference>
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+              <ExternalReference id="125310">
+                <Source>SwissProt</Source>
+                <Reference>Q13467</Reference>
+              </ExternalReference>
+              <ExternalReference id="125311">
+                <Source>Reactome</Source>
+                <Reference>Q13467</Reference>
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+              <ExternalReference id="125312">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163251</Reference>
+              </ExternalReference>
+              <ExternalReference id="125313">
+                <Source>IUPHAR</Source>
+                <Reference>233</Reference>
+              </ExternalReference>
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+                <GeneLocus>2q33.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24412933[PMID]</SourceOfValidation>
+          <Gene id="22887">
+            <Name lang="en">spalt like transcription factor 2</Name>
+            <Symbol>SALL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Hsal2</Synonym>
+              <Synonym lang="en">KIAA0360</Synonym>
+              <Synonym lang="en">ZNF795</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="91581">
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+                <Reference>ENSG00000165821</Reference>
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+              <ExternalReference id="89950">
+                <Source>Genatlas</Source>
+                <Reference>SALL2</Reference>
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+              <ExternalReference id="89948">
+                <Source>HGNC</Source>
+                <Reference>10526</Reference>
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+              <ExternalReference id="89949">
+                <Source>OMIM</Source>
+                <Reference>602219</Reference>
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+              <ExternalReference id="89951">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y467</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y467</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22226084[PMID]</SourceOfValidation>
+          <Gene id="20790">
+            <Name lang="en">ATP binding cassette subfamily B member 6 (Langereis blood group)</Name>
+            <Symbol>ABCB6</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-binding cassette half-transporter</Synonym>
+              <Synonym lang="en">EST45597</Synonym>
+              <Synonym lang="en">MTABC3</Synonym>
+              <Synonym lang="en">umat</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000115657</Reference>
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+              <ExternalReference id="60680">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>47</Reference>
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+              <ExternalReference id="60679">
+                <Source>OMIM</Source>
+                <Reference>605452</Reference>
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+              <ExternalReference id="83240">
+                <Source>Reactome</Source>
+                <Reference>Q9NP58</Reference>
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+              <ExternalReference id="60681">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP58</Reference>
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+              <ExternalReference id="190530">
+                <Source>IUPHAR</Source>
+                <Reference>773</Reference>
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+                <GeneLocus>2q35</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12721955[PMID]_16604056[PMID]</SourceOfValidation>
+          <Gene id="16612">
+            <Name lang="en">paired box 6</Name>
+            <Symbol>PAX6</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">AN</Synonym>
+              <Synonym lang="en">Aniridia 1</Synonym>
+              <Synonym lang="en">Aniridia 2</Synonym>
+              <Synonym lang="en">D11S812E</Synonym>
+              <Synonym lang="en">WAGR</Synonym>
+              <Synonym lang="en">aniridia, keratitis</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007372</Reference>
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+              <ExternalReference id="32123">
+                <Source>Genatlas</Source>
+                <Reference>PAX6</Reference>
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+              <ExternalReference id="32121">
+                <Source>HGNC</Source>
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+              <ExternalReference id="32120">
+                <Source>OMIM</Source>
+                <Reference>607108</Reference>
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+              <ExternalReference id="57028">
+                <Source>Reactome</Source>
+                <Reference>P26367</Reference>
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+              <ExternalReference id="33677">
+                <Source>SwissProt</Source>
+                <Reference>P26367</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13974">
+      <OrphaCode>98957</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98957</ExpertLink>
+      <Name lang="en">Gelatinous drop-like corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20454699[PMID]</SourceOfValidation>
+          <Gene id="15575">
+            <Name lang="en">tumor associated calcium signal transducer 2</Name>
+            <Symbol>TACSTD2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">EGP-1</Synonym>
+              <Synonym lang="en">GA733-1</Synonym>
+              <Synonym lang="en">TROP2</Synonym>
+              <Synonym lang="en">epithelial glycoprotein-1</Synonym>
+              <Synonym lang="en">trophoblast cell surface antigen 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59872">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000184292</Reference>
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+              <ExternalReference id="27187">
+                <Source>Genatlas</Source>
+                <Reference>TACSTD2</Reference>
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+                <Source>HGNC</Source>
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+              <ExternalReference id="27184">
+                <Source>OMIM</Source>
+                <Reference>137290</Reference>
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+              <ExternalReference id="32546">
+                <Source>SwissProt</Source>
+                <Reference>P09758</Reference>
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+              <ExternalReference id="193662">
+                <Source>IUPHAR</Source>
+                <Reference>2837</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13973">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98956</ExpertLink>
+      <Name lang="en">Epithelial basement membrane dystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>16652336[PMID]</SourceOfValidation>
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+            <Name lang="en">transforming growth factor beta induced</Name>
+            <Symbol>TGFBI</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120708</Reference>
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+              <ExternalReference id="27347">
+                <Source>Genatlas</Source>
+                <Reference>TGFBI</Reference>
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+              <ExternalReference id="27349">
+                <Source>HGNC</Source>
+                <Reference>11771</Reference>
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+              <ExternalReference id="27348">
+                <Source>OMIM</Source>
+                <Reference>601692</Reference>
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+              <ExternalReference id="59871">
+                <Source>Reactome</Source>
+                <Reference>Q15582</Reference>
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+              <ExternalReference id="32580">
+                <Source>SwissProt</Source>
+                <Reference>Q15582</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Meesmann corneal dystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">keratin 12</Name>
+            <Symbol>KRT12</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">K12</Synonym>
+              <Synonym lang="en">Meesmann corneal dystrophy</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187242</Reference>
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+              <ExternalReference id="37503">
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+                <Source>HGNC</Source>
+                <Reference>6414</Reference>
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+              <ExternalReference id="30736">
+                <Source>OMIM</Source>
+                <Reference>601687</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q99456</Reference>
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+              <ExternalReference id="126347">
+                <Source>Reactome</Source>
+                <Reference>Q99456</Reference>
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+              <Synonym lang="en">cytokeratin 3</Synonym>
+              <Synonym lang="en">keratin, type II cytoskeletal 3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>6440</Reference>
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+                <Reference>148043</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000120708</Reference>
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+                <Reference>TGFBI</Reference>
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+                <Source>HGNC</Source>
+                <Reference>11771</Reference>
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+                <Source>OMIM</Source>
+                <Reference>601692</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Reference>11771</Reference>
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+              <ExternalReference id="59871">
+                <Source>Reactome</Source>
+                <Reference>Q15582</Reference>
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+                <Reference>TGFBI</Reference>
+              </ExternalReference>
+              <ExternalReference id="27349">
+                <Source>HGNC</Source>
+                <Reference>11771</Reference>
+              </ExternalReference>
+              <ExternalReference id="27348">
+                <Source>OMIM</Source>
+                <Reference>601692</Reference>
+              </ExternalReference>
+              <ExternalReference id="59871">
+                <Source>Reactome</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+              <ExternalReference id="32580">
+                <Source>SwissProt</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24279">
+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13978">
+      <OrphaCode>98961</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98961</ExpertLink>
+      <Name lang="en">Reis-Bücklers corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20360992[PMID]</SourceOfValidation>
+          <Gene id="15609">
+            <Name lang="en">transforming growth factor beta induced</Name>
+            <Symbol>TGFBI</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BIGH3</Synonym>
+              <Synonym lang="en">CDB1</Synonym>
+              <Synonym lang="en">CDGG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120708</Reference>
+              </ExternalReference>
+              <ExternalReference id="27347">
+                <Source>Genatlas</Source>
+                <Reference>TGFBI</Reference>
+              </ExternalReference>
+              <ExternalReference id="27349">
+                <Source>HGNC</Source>
+                <Reference>11771</Reference>
+              </ExternalReference>
+              <ExternalReference id="27348">
+                <Source>OMIM</Source>
+                <Reference>601692</Reference>
+              </ExternalReference>
+              <ExternalReference id="59871">
+                <Source>Reactome</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+              <ExternalReference id="32580">
+                <Source>SwissProt</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24279">
+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13977">
+      <OrphaCode>98960</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98960</ExpertLink>
+      <Name lang="en">Thiel-Behnke corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26464103[PMID]</SourceOfValidation>
+          <Gene id="15609">
+            <Name lang="en">transforming growth factor beta induced</Name>
+            <Symbol>TGFBI</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">BIGH3</Synonym>
+              <Synonym lang="en">CDB1</Synonym>
+              <Synonym lang="en">CDGG1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59870">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120708</Reference>
+              </ExternalReference>
+              <ExternalReference id="27347">
+                <Source>Genatlas</Source>
+                <Reference>TGFBI</Reference>
+              </ExternalReference>
+              <ExternalReference id="27349">
+                <Source>HGNC</Source>
+                <Reference>11771</Reference>
+              </ExternalReference>
+              <ExternalReference id="27348">
+                <Source>OMIM</Source>
+                <Reference>601692</Reference>
+              </ExternalReference>
+              <ExternalReference id="59871">
+                <Source>Reactome</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+              <ExternalReference id="32580">
+                <Source>SwissProt</Source>
+                <Reference>Q15582</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24279">
+                <GeneLocus>5q31.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13990">
+      <OrphaCode>98973</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98973</ExpertLink>
+      <Name lang="en">Posterior polymorphous corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="5">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11978762[PMID]</SourceOfValidation>
+          <Gene id="15713">
+            <Name lang="en">visual system homeobox 1</Name>
+            <Symbol>VSX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PPCD1</Synonym>
+              <Synonym lang="en">PPD</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="27842">
+                <Source>HGNC</Source>
+                <Reference>12723</Reference>
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+              <ExternalReference id="27841">
+                <Source>OMIM</Source>
+                <Reference>605020</Reference>
+              </ExternalReference>
+              <ExternalReference id="32685">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZR4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58187">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100987</Reference>
+              </ExternalReference>
+              <ExternalReference id="27840">
+                <Source>Genatlas</Source>
+                <Reference>VSX1</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7913">
+                <GeneLocus>20p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23807282[PMID]_25441224[PMID]</SourceOfValidation>
+          <Gene id="15739">
+            <Name lang="en">zinc finger E-box binding homeobox 1</Name>
+            <Symbol>ZEB1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">AREB6</Synonym>
+              <Synonym lang="en">BZP</Synonym>
+              <Synonym lang="en">FECD6</Synonym>
+              <Synonym lang="en">NIL-2-A</Synonym>
+              <Synonym lang="en">ZEB</Synonym>
+              <Synonym lang="en">Zfhep</Synonym>
+              <Synonym lang="en">Zfhx1a</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59876">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148516</Reference>
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+              <ExternalReference id="36436">
+                <Source>Genatlas</Source>
+                <Reference>ZEB1</Reference>
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+              <ExternalReference id="27960">
+                <Source>HGNC</Source>
+                <Reference>11642</Reference>
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+              <ExternalReference id="27959">
+                <Source>OMIM</Source>
+                <Reference>189909</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P37275</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P37275</Reference>
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+                <GeneLocus>10p11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11689488[PMID]</SourceOfValidation>
+          <Gene id="15782">
+            <Name lang="en">collagen type VIII alpha 2 chain</Name>
+            <Symbol>COL8A2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FECD1</Synonym>
+              <Synonym lang="en">PPCD</Synonym>
+              <Synonym lang="en">PPCD2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="28161">
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+                <Reference>COL8A2</Reference>
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+              <ExternalReference id="28163">
+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>120252</Reference>
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+              <ExternalReference id="82867">
+                <Source>Reactome</Source>
+                <Reference>P25067</Reference>
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+              <ExternalReference id="32754">
+                <Source>SwissProt</Source>
+                <Reference>P25067</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171812</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26749309[PMID]</SourceOfValidation>
+          <Gene id="23650">
+            <Name lang="en">ovo like zinc finger 2</Name>
+            <Symbol>OVOL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHED</Synonym>
+              <Synonym lang="en">HOVO2</Synonym>
+              <Synonym lang="en">bA504H3.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125850</Reference>
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+              <ExternalReference id="100057">
+                <Source>Genatlas</Source>
+                <Reference>OVOL2</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BRP0</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>29499165[PMID]</SourceOfValidation>
+          <Gene id="17346">
+            <Name lang="en">grainyhead like transcription factor 2</Name>
+            <Symbol>GRHL2</Symbol>
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+              <Synonym lang="en">FLJ13782</Synonym>
+              <Synonym lang="en">brother-of-MGR</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>2799</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q6ISB3</Reference>
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+                <Reference>ENSG00000083307</Reference>
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+                <Reference>GRHL2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>98974</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98974</ExpertLink>
+      <Name lang="en">Fuchs endothelial corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">solute carrier family 4 member 11</Name>
+            <Symbol>SLC4A11</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">NaBC1</Synonym>
+              <Synonym lang="en">dJ794I6.2</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000088836</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8NBS3</Reference>
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+                <Source>IUPHAR</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">zinc finger E-box binding homeobox 1</Name>
+            <Symbol>ZEB1</Symbol>
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+              <Synonym lang="en">Zfhx1a</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>18464802[PMID]</SourceOfValidation>
+          <Gene id="15782">
+            <Name lang="en">collagen type VIII alpha 2 chain</Name>
+            <Symbol>COL8A2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">transcription factor 4</Name>
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+              <Synonym lang="en">SEF2-1B</Synonym>
+              <Synonym lang="en">SL3-3 enhancer factor 2</Synonym>
+              <Synonym lang="en">bHLHb19</Synonym>
+              <Synonym lang="en">class B basic helix-loop-helix protein 19</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196628</Reference>
+              </ExternalReference>
+              <ExternalReference id="36407">
+                <Source>Genatlas</Source>
+                <Reference>TCF4</Reference>
+              </ExternalReference>
+              <ExternalReference id="36409">
+                <Source>HGNC</Source>
+                <Reference>11634</Reference>
+              </ExternalReference>
+              <ExternalReference id="36408">
+                <Source>OMIM</Source>
+                <Reference>602272</Reference>
+              </ExternalReference>
+              <ExternalReference id="58168">
+                <Source>Reactome</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+              <ExternalReference id="36410">
+                <Source>SwissProt</Source>
+                <Reference>P15884</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25499">
+                <GeneLocus>18q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24094747[PMID]</SourceOfValidation>
+          <Gene id="22419">
+            <Name lang="en">AGBL carboxypeptidase 1</Name>
+            <Symbol>AGBL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CCP4</Synonym>
+              <Synonym lang="en">FLJ32310</Synonym>
+              <Synonym lang="en">cytosolic carboxypeptidase 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143926">
+                <Source>Reactome</Source>
+                <Reference>Q96MI9</Reference>
+              </ExternalReference>
+              <ExternalReference id="82223">
+                <Source>Genatlas</Source>
+                <Reference>AGBL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="82221">
+                <Source>HGNC</Source>
+                <Reference>26504</Reference>
+              </ExternalReference>
+              <ExternalReference id="143927">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000273540</Reference>
+              </ExternalReference>
+              <ExternalReference id="82222">
+                <Source>OMIM</Source>
+                <Reference>615496</Reference>
+              </ExternalReference>
+              <ExternalReference id="82224">
+                <Source>SwissProt</Source>
+                <Reference>Q96MI9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39321">
+                <GeneLocus>15q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13984">
+      <OrphaCode>98967</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98967</ExpertLink>
+      <Name lang="en">Schnyder corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23169578[PMID]_22065921[PMID]</SourceOfValidation>
+          <Gene id="17355">
+            <Name lang="en">UbiA prenyltransferase domain containing 1</Name>
+            <Symbol>UBIAD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TERE1</Synonym>
+              <Synonym lang="en">transitional epithelia response protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59873">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120942</Reference>
+              </ExternalReference>
+              <ExternalReference id="36989">
+                <Source>Genatlas</Source>
+                <Reference>UBIAD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="36990">
+                <Source>HGNC</Source>
+                <Reference>30791</Reference>
+              </ExternalReference>
+              <ExternalReference id="36991">
+                <Source>OMIM</Source>
+                <Reference>611632</Reference>
+              </ExternalReference>
+              <ExternalReference id="98076">
+                <Source>Reactome</Source>
+                <Reference>Q9Y5Z9</Reference>
+              </ExternalReference>
+              <ExternalReference id="36992">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y5Z9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17763">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13986">
+      <OrphaCode>98969</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98969</ExpertLink>
+      <Name lang="en">Macular corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11017086[PMID]_19365571[PMID]</SourceOfValidation>
+          <Gene id="15454">
+            <Name lang="en">carbohydrate sulfotransferase 6</Name>
+            <Symbol>CHST6</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183196</Reference>
+              </ExternalReference>
+              <ExternalReference id="26595">
+                <Source>Genatlas</Source>
+                <Reference>CHST6</Reference>
+              </ExternalReference>
+              <ExternalReference id="26597">
+                <Source>HGNC</Source>
+                <Reference>6938</Reference>
+              </ExternalReference>
+              <ExternalReference id="26596">
+                <Source>OMIM</Source>
+                <Reference>605294</Reference>
+              </ExternalReference>
+              <ExternalReference id="82817">
+                <Source>Reactome</Source>
+                <Reference>Q9GZX3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32423">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZX3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22583">
+                <GeneLocus>16q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13987">
+      <OrphaCode>98970</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98970</ExpertLink>
+      <Name lang="en">Fleck corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22065932[PMID]_26396486[PMID]</SourceOfValidation>
+          <Gene id="15095">
+            <Name lang="en">phosphoinositide kinase, FYVE-type zinc finger containing</Name>
+            <Symbol>PIKFYVE</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">FAB1</Synonym>
+              <Synonym lang="en">KIAA0981</Synonym>
+              <Synonym lang="en">MGC40423</Synonym>
+              <Synonym lang="en">PIKfyve</Synonym>
+              <Synonym lang="en">PIP5K</Synonym>
+              <Synonym lang="en">ZFYVE29</Synonym>
+              <Synonym lang="en">p235</Synonym>
+              <Synonym lang="en">zinc finger, FYVE domain containing 29</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193571">
+                <Source>IUPHAR</Source>
+                <Reference>2857</Reference>
+              </ExternalReference>
+              <ExternalReference id="59874">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115020</Reference>
+              </ExternalReference>
+              <ExternalReference id="99979">
+                <Source>Genatlas</Source>
+                <Reference>PIKFYVE</Reference>
+              </ExternalReference>
+              <ExternalReference id="24883">
+                <Source>HGNC</Source>
+                <Reference>23785</Reference>
+              </ExternalReference>
+              <ExternalReference id="24882">
+                <Source>OMIM</Source>
+                <Reference>609414</Reference>
+              </ExternalReference>
+              <ExternalReference id="82738">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2I7</Reference>
+              </ExternalReference>
+              <ExternalReference id="32786">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2I7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66551">
+                <GeneLocus>2q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13992">
+      <OrphaCode>98975</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98975</ExpertLink>
+      <Name lang="en">Congenital hereditary endothelial dystrophy type I</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26749309[PMID]</SourceOfValidation>
+          <Gene id="23650">
+            <Name lang="en">ovo like zinc finger 2</Name>
+            <Symbol>OVOL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CHED</Synonym>
+              <Synonym lang="en">HOVO2</Synonym>
+              <Synonym lang="en">bA504H3.3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="100059">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125850</Reference>
+              </ExternalReference>
+              <ExternalReference id="100057">
+                <Source>Genatlas</Source>
+                <Reference>OVOL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="100055">
+                <Source>HGNC</Source>
+                <Reference>15804</Reference>
+              </ExternalReference>
+              <ExternalReference id="100056">
+                <Source>OMIM</Source>
+                <Reference>616441</Reference>
+              </ExternalReference>
+              <ExternalReference id="100058">
+                <Source>SwissProt</Source>
+                <Reference>Q9BRP0</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19029">
+                <GeneLocus>20p11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13993">
+      <OrphaCode>98976</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98976</ExpertLink>
+      <Name lang="en">Congenital glaucoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21730848[PMID]</SourceOfValidation>
+          <Gene id="15838">
+            <Name lang="en">cytochrome P450 family 1 subfamily B member 1</Name>
+            <Symbol>CYP1B1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CP1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193636">
+                <Source>IUPHAR</Source>
+                <Reference>1320</Reference>
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+              <ExternalReference id="58296">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138061</Reference>
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+              <ExternalReference id="28432">
+                <Source>Genatlas</Source>
+                <Reference>CYP1B1</Reference>
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+              <ExternalReference id="28430">
+                <Source>HGNC</Source>
+                <Reference>2597</Reference>
+              </ExternalReference>
+              <ExternalReference id="28429">
+                <Source>OMIM</Source>
+                <Reference>601771</Reference>
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+              <ExternalReference id="58297">
+                <Source>Reactome</Source>
+                <Reference>Q16678</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16678</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21730848[PMID]_15733270[PMID]_21168818[PMID]</SourceOfValidation>
+          <Gene id="16511">
+            <Name lang="en">myocilin</Name>
+            <Symbol>MYOC</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JOAG1</Synonym>
+              <Synonym lang="en">TIGR</Synonym>
+              <Synonym lang="en">juvenile-onset open-angle glaucoma 1</Synonym>
+              <Synonym lang="en">trabecular meshwork inducible glucocorticoid response protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59878">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000034971</Reference>
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+              <ExternalReference id="31643">
+                <Source>Genatlas</Source>
+                <Reference>MYOC</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7610</Reference>
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+              <ExternalReference id="31640">
+                <Source>OMIM</Source>
+                <Reference>601652</Reference>
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+              <ExternalReference id="33576">
+                <Source>SwissProt</Source>
+                <Reference>Q99972</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>1q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19361779[PMID]</SourceOfValidation>
+          <Gene id="18372">
+            <Name lang="en">latent transforming growth factor beta binding protein 2</Name>
+            <Symbol>LTBP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59877">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119681</Reference>
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+              <ExternalReference id="41813">
+                <Source>Genatlas</Source>
+                <Reference>LTBP2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6715</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602091</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14767</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14767</Reference>
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+                <GeneLocus>14q24.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27270174[PMID]</SourceOfValidation>
+          <Gene id="15599">
+            <Name lang="en">TEK receptor tyrosine kinase</Name>
+            <Symbol>TEK</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CD202b</Synonym>
+              <Synonym lang="en">TIE-2</Synonym>
+              <Synonym lang="en">TIE2</Synonym>
+              <Synonym lang="en">VMCM1</Synonym>
+              <Synonym lang="en">angiopoietin-1 receptor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58204">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120156</Reference>
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+              <ExternalReference id="27301">
+                <Source>Genatlas</Source>
+                <Reference>TEK</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>11724</Reference>
+              </ExternalReference>
+              <ExternalReference id="82830">
+                <Source>IUPHAR</Source>
+                <Reference>1842</Reference>
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+              <ExternalReference id="27302">
+                <Source>OMIM</Source>
+                <Reference>600221</Reference>
+              </ExternalReference>
+              <ExternalReference id="58205">
+                <Source>Reactome</Source>
+                <Reference>Q02763</Reference>
+              </ExternalReference>
+              <ExternalReference id="32570">
+                <Source>SwissProt</Source>
+                <Reference>Q02763</Reference>
+              </ExternalReference>
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+              <Locus id="25205">
+                <GeneLocus>9p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    </Disorder>
+    <Disorder id="13994">
+      <OrphaCode>98977</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98977</ExpertLink>
+      <Name lang="en">Juvenile glaucoma</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19643970[PMID]_22878448[PMID]</SourceOfValidation>
+          <Gene id="15838">
+            <Name lang="en">cytochrome P450 family 1 subfamily B member 1</Name>
+            <Symbol>CYP1B1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CP1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138061</Reference>
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+                <Source>Genatlas</Source>
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+            <Name lang="en">Major susceptibility factor in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21730848[PMID]</SourceOfValidation>
+          <Gene id="16511">
+            <Name lang="en">myocilin</Name>
+            <Symbol>MYOC</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">JOAG1</Synonym>
+              <Synonym lang="en">TIGR</Synonym>
+              <Synonym lang="en">juvenile-onset open-angle glaucoma 1</Synonym>
+              <Synonym lang="en">trabecular meshwork inducible glucocorticoid response protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000034971</Reference>
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+                <Source>Genatlas</Source>
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+          <SourceOfValidation>34923728[PMID]</SourceOfValidation>
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+            <Name lang="en">EGF containing fibulin extracellular matrix protein 1</Name>
+            <Symbol>EFEMP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>19513095[PMID]_24433355[PMID]</SourceOfValidation>
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+            <Name lang="en">paired like homeodomain 2</Name>
+            <Symbol>PITX2</Symbol>
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+              <Synonym lang="en">Otlx2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000164093</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">forkhead box C1</Name>
+            <Symbol>FOXC1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">major intrinsic protein of lens fiber</Name>
+            <Symbol>MIP</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AQP0</Synonym>
+              <Synonym lang="en">LIM1</Synonym>
+              <Synonym lang="en">MP26</Synonym>
+              <Synonym lang="en">aquaporin 0</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135517</Reference>
+              </ExternalReference>
+              <ExternalReference id="37518">
+                <Source>Genatlas</Source>
+                <Reference>MIP</Reference>
+              </ExternalReference>
+              <ExternalReference id="34011">
+                <Source>HGNC</Source>
+                <Reference>7103</Reference>
+              </ExternalReference>
+              <ExternalReference id="31136">
+                <Source>OMIM</Source>
+                <Reference>154050</Reference>
+              </ExternalReference>
+              <ExternalReference id="59898">
+                <Source>Reactome</Source>
+                <Reference>P30301</Reference>
+              </ExternalReference>
+              <ExternalReference id="33465">
+                <Source>SwissProt</Source>
+                <Reference>P30301</Reference>
+              </ExternalReference>
+              <ExternalReference id="190395">
+                <Source>IUPHAR</Source>
+                <Reference>687</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66779">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16470690[PMID]</SourceOfValidation>
+          <Gene id="16990">
+            <Name lang="en">MAF bZIP transcription factor</Name>
+            <Symbol>MAF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">c-MAF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59883">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178573</Reference>
+              </ExternalReference>
+              <ExternalReference id="35936">
+                <Source>Genatlas</Source>
+                <Reference>MAF</Reference>
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+              <ExternalReference id="35933">
+                <Source>HGNC</Source>
+                <Reference>6776</Reference>
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+              <ExternalReference id="35935">
+                <Source>OMIM</Source>
+                <Reference>177075</Reference>
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+              <ExternalReference id="35934">
+                <Source>SwissProt</Source>
+                <Reference>O75444</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24027">
+                <GeneLocus>16q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14001">
+      <OrphaCode>98984</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98984</ExpertLink>
+      <Name lang="en">Pulverulent cataract</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="9">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24654948[PMID]</SourceOfValidation>
+          <Gene id="15369">
+            <Name lang="en">beaded filament structural protein 2</Name>
+            <Symbol>BFSP2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CP47</Synonym>
+              <Synonym lang="en">CP49</Synonym>
+              <Synonym lang="en">LIFL-L</Synonym>
+              <Synonym lang="en">phakinin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142836">
+                <Source>Reactome</Source>
+                <Reference>Q13515</Reference>
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+              <ExternalReference id="59892">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170819</Reference>
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+              <ExternalReference id="26189">
+                <Source>Genatlas</Source>
+                <Reference>BFSP2</Reference>
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+              <ExternalReference id="26187">
+                <Source>HGNC</Source>
+                <Reference>1041</Reference>
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+              <ExternalReference id="26186">
+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q13515</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10634616[PMID]</SourceOfValidation>
+          <Gene id="15808">
+            <Name lang="en">crystallin beta B2</Name>
+            <Symbol>CRYBB2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59887">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000244752</Reference>
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+              <ExternalReference id="37410">
+                <Source>Genatlas</Source>
+                <Reference>CRYBB2</Reference>
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+              <ExternalReference id="28290">
+                <Source>HGNC</Source>
+                <Reference>2398</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P43320</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10914683[PMID]_23954869[PMID]</SourceOfValidation>
+          <Gene id="15810">
+            <Name lang="en">crystallin gamma C</Name>
+            <Symbol>CRYGC</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163254</Reference>
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+              <ExternalReference id="28300">
+                <Source>Genatlas</Source>
+                <Reference>CRYGC</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Reference>P07315</Reference>
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+                <GeneLocus>2q33.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21866214[PMID]</SourceOfValidation>
+          <Gene id="15811">
+            <Name lang="en">crystallin gamma D</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>22876138[PMID]</SourceOfValidation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000121743</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14627691[PMID]_24384146[PMID]</SourceOfValidation>
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+            <Name lang="en">gap junction protein alpha 8</Name>
+            <Symbol>GJA8</Symbol>
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+              <Synonym lang="en">connexin 50</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P48165</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P48165</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>732</Reference>
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+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15277496[PMID]_16876512[PMID]</SourceOfValidation>
+          <Gene id="16228">
+            <Name lang="en">heat shock transcription factor 4</Name>
+            <Symbol>HSF4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102878</Reference>
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+              <ExternalReference id="30323">
+                <Source>Genatlas</Source>
+                <Reference>HSF4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>5227</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602438</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9ULV5</Reference>
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+                <GeneLocus>16q22.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17893667[PMID]</SourceOfValidation>
+          <Gene id="16401">
+            <Name lang="en">major intrinsic protein of lens fiber</Name>
+            <Symbol>MIP</Symbol>
+            <SynonymList count="4">
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+              <Synonym lang="en">LIM1</Synonym>
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+              <Synonym lang="en">aquaporin 0</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135517</Reference>
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+              <ExternalReference id="37518">
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+              <ExternalReference id="34011">
+                <Source>HGNC</Source>
+                <Reference>7103</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P30301</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>687</Reference>
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+                <GeneLocus>12q13.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16546">
+            <Name lang="en">NHS actin remodeling regulator</Name>
+            <Symbol>NHS</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188158</Reference>
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+                <Reference>NHS</Reference>
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+                <Source>HGNC</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q6T4R5</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18596884[PMID]</SourceOfValidation>
+          <Gene id="17431">
+            <Name lang="en">lens intrinsic membrane protein 2</Name>
+            <Symbol>LIM2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">MP17</Synonym>
+              <Synonym lang="en">MP19</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>P55344</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105370</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LIM2</Reference>
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+                <Source>HGNC</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19306328[PMID]</SourceOfValidation>
+          <Gene id="18658">
+            <Name lang="en">EPH receptor A2</Name>
+            <Symbol>EPHA2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142627</Reference>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">FYVE and coiled-coil domain autophagy adaptor 1</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163820</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">lamina-associated polypeptide-emerin-MAN1 domain containing 2</Synonym>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <SynonymList count="4">
+              <Synonym lang="en">ARHGEF36</Synonym>
+              <Synonym lang="en">KIAA1010</Synonym>
+              <Synonym lang="en">Tuba</Synonym>
+              <Synonym lang="en">scaffold protein TUBA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="161523">
+                <Source>HGNC</Source>
+                <Reference>30373</Reference>
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+              <ExternalReference id="161524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107554</Reference>
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+              <ExternalReference id="161525">
+                <Source>SwissProt</Source>
+                <Reference>Q6XZF7</Reference>
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+              <ExternalReference id="161526">
+                <Source>Reactome</Source>
+                <Reference>Q6XZF7</Reference>
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+              <ExternalReference id="161527">
+                <Source>OMIM</Source>
+                <Reference>611282</Reference>
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+            <LocusList count="1">
+              <Locus id="50223">
+                <GeneLocus>10q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25804400[PMID]</SourceOfValidation>
+          <Gene id="23745">
+            <Name lang="en">signal induced proliferation associated 1 like 3</Name>
+            <Symbol>SIPA1L3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA0545</Synonym>
+              <Synonym lang="en">SPAR3</Synonym>
+              <Synonym lang="en">spine-associated RapGAP 3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
+                <Reference>616655</Reference>
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+              <ExternalReference id="101192">
+                <Source>SwissProt</Source>
+                <Reference>O60292</Reference>
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+              <ExternalReference id="101193">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105738</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>19q13.13-q13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14010">
+      <OrphaCode>98993</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98993</ExpertLink>
+      <Name lang="en">Early-onset posterior polar cataract</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16636655[PMID]_21633712[PMID]</SourceOfValidation>
+          <Gene id="15097">
+            <Name lang="en">paired like homeodomain 3</Name>
+            <Symbol>PITX3</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107859</Reference>
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+              <ExternalReference id="24891">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>9006</Reference>
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+              <ExternalReference id="24892">
+                <Source>OMIM</Source>
+                <Reference>602669</Reference>
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+              <ExternalReference id="32788">
+                <Source>SwissProt</Source>
+                <Reference>O75364</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16877416[PMID]_25195561[PMID]</SourceOfValidation>
+          <Gene id="15805">
+            <Name lang="en">crystallin alpha B</Name>
+            <Symbol>CRYAB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HSPB5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="98054">
+                <Source>Reactome</Source>
+                <Reference>P02511</Reference>
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+              <ExternalReference id="32816">
+                <Source>SwissProt</Source>
+                <Reference>P02511</Reference>
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+              <ExternalReference id="59854">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109846</Reference>
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+              <ExternalReference id="28274">
+                <Source>Genatlas</Source>
+                <Reference>CRYAB</Reference>
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+              <ExternalReference id="28276">
+                <Source>HGNC</Source>
+                <Reference>2389</Reference>
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+                <Source>OMIM</Source>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20142846[PMID]</SourceOfValidation>
+          <Gene id="15806">
+            <Name lang="en">crystallin beta A1</Name>
+            <Symbol>CRYBA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">eye lens structural protein</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142819">
+                <Source>Reactome</Source>
+                <Reference>P05813</Reference>
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+              <ExternalReference id="59886">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108255</Reference>
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+              <ExternalReference id="28282">
+                <Source>Genatlas</Source>
+                <Reference>CRYBA1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2394</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P05813</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21031021[PMID]</SourceOfValidation>
+          <Gene id="16127">
+            <Name lang="en">gap junction protein alpha 3</Name>
+            <Symbol>GJA3</Symbol>
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+              <Synonym lang="en">connexin 46</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59880">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000121743</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GJA3</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9Y6H8</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y6H8</Reference>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135517</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000044115</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>CTNNA1</Reference>
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+                <Reference>116805</Reference>
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+      <Name lang="en">Reticular dystrophy of the retinal pigment epithelium</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">RCC1 and BTB domain containing protein 1</Name>
+            <Symbol>RCBTB1</Symbol>
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+              <Synonym lang="en">CLLL7</Synonym>
+              <Synonym lang="en">FLJ10716</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
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+                <Reference>ENSG00000136144</Reference>
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+      <Name lang="en">Adult-onset foveomacular vitelliform dystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>PRPH2</Symbol>
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+              <Synonym lang="en">TSPAN22</Synonym>
+              <Synonym lang="en">rd2</Synonym>
+              <Synonym lang="en">retinal peripherin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+          <SourceOfValidation>10854112[PMID]</SourceOfValidation>
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+            <Name lang="en">bestrophin 1</Name>
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+              <Synonym lang="en">Best disease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Reference>173490</Reference>
+              </ExternalReference>
+              <ExternalReference id="58604">
+                <Source>Reactome</Source>
+                <Reference>P16234</Reference>
+              </ExternalReference>
+              <ExternalReference id="33733">
+                <Source>SwissProt</Source>
+                <Reference>P16234</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9621">
+                <GeneLocus>4q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22578776[PMID]</SourceOfValidation>
+          <Gene id="17272">
+            <Name lang="en">activator of transcription and developmental regulator AUTS2</Name>
+            <Symbol>AUTS2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FBRSL2</Synonym>
+              <Synonym lang="en">KIAA0442</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57153">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158321</Reference>
+              </ExternalReference>
+              <ExternalReference id="36557">
+                <Source>Genatlas</Source>
+                <Reference>AUTS2</Reference>
+              </ExternalReference>
+              <ExternalReference id="36559">
+                <Source>HGNC</Source>
+                <Reference>14262</Reference>
+              </ExternalReference>
+              <ExternalReference id="36558">
+                <Source>OMIM</Source>
+                <Reference>607270</Reference>
+              </ExternalReference>
+              <ExternalReference id="36560">
+                <Source>SwissProt</Source>
+                <Reference>Q8WXX7</Reference>
+              </ExternalReference>
+              <ExternalReference id="143852">
+                <Source>Reactome</Source>
+                <Reference>Q8WXX7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39169">
+                <GeneLocus>7q11.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20519628[PMID]</SourceOfValidation>
+          <Gene id="17378">
+            <Name lang="en">HLF transcription factor, PAR bZIP family member</Name>
+            <Symbol>HLF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MGC33822</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59946">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108924</Reference>
+              </ExternalReference>
+              <ExternalReference id="37132">
+                <Source>Genatlas</Source>
+                <Reference>HLF</Reference>
+              </ExternalReference>
+              <ExternalReference id="37133">
+                <Source>HGNC</Source>
+                <Reference>4977</Reference>
+              </ExternalReference>
+              <ExternalReference id="37134">
+                <Source>OMIM</Source>
+                <Reference>142385</Reference>
+              </ExternalReference>
+              <ExternalReference id="37135">
+                <Source>SwissProt</Source>
+                <Reference>Q16534</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10117">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17917">
+            <Name lang="en">ALF transcription elongation factor 1</Name>
+            <Symbol>AFF1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">AF-4</Synonym>
+              <Synonym lang="en">AF4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143856">
+                <Source>Reactome</Source>
+                <Reference>P51825</Reference>
+              </ExternalReference>
+              <ExternalReference id="59945">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000172493</Reference>
+              </ExternalReference>
+              <ExternalReference id="40300">
+                <Source>Genatlas</Source>
+                <Reference>AFF1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40301">
+                <Source>HGNC</Source>
+                <Reference>7135</Reference>
+              </ExternalReference>
+              <ExternalReference id="40302">
+                <Source>OMIM</Source>
+                <Reference>159557</Reference>
+              </ExternalReference>
+              <ExternalReference id="46806">
+                <Source>SwissProt</Source>
+                <Reference>P51825</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39177">
+                <GeneLocus>4q21.3-q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17918">
+            <Name lang="en">transcription factor 3</Name>
+            <Symbol>TCF3</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">E2A</Synonym>
+              <Synonym lang="en">E2A immunoglobulin enhancer-binding factor E12/E47</Synonym>
+              <Synonym lang="en">E47</Synonym>
+              <Synonym lang="en">ITF1</Synonym>
+              <Synonym lang="en">MGC129647</Synonym>
+              <Synonym lang="en">MGC129648</Synonym>
+              <Synonym lang="en">VDIR</Synonym>
+              <Synonym lang="en">VDR interacting repressor</Synonym>
+              <Synonym lang="en">bHLHb21</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 1</Synonym>
+              <Synonym lang="en">kappa-E2-binding factor</Synonym>
+              <Synonym lang="en">p75</Synonym>
+              <Synonym lang="en">transcription factor E2-alpha</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59948">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000071564</Reference>
+              </ExternalReference>
+              <ExternalReference id="40317">
+                <Source>Genatlas</Source>
+                <Reference>TCF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="40318">
+                <Source>HGNC</Source>
+                <Reference>11633</Reference>
+              </ExternalReference>
+              <ExternalReference id="40319">
+                <Source>OMIM</Source>
+                <Reference>147141</Reference>
+              </ExternalReference>
+              <ExternalReference id="59949">
+                <Source>Reactome</Source>
+                <Reference>P15923</Reference>
+              </ExternalReference>
+              <ExternalReference id="40320">
+                <Source>SwissProt</Source>
+                <Reference>P15923</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10505">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21962897[PMID]</SourceOfValidation>
+          <Gene id="18438">
+            <Name lang="en">forkhead box P1</Name>
+            <Symbol>FOXP1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">12CC4</Synonym>
+              <Synonym lang="en">HSPC215</Synonym>
+              <Synonym lang="en">PAX5/FOXP1 fusion protein</Synonym>
+              <Synonym lang="en">QRF1</Synonym>
+              <Synonym lang="en">fork head-related protein like B</Synonym>
+              <Synonym lang="en">glutamine-rich factor 1</Synonym>
+              <Synonym lang="en">hFKH1B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143478">
+                <Source>Reactome</Source>
+                <Reference>Q9H334</Reference>
+              </ExternalReference>
+              <ExternalReference id="59118">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114861</Reference>
+              </ExternalReference>
+              <ExternalReference id="42210">
+                <Source>Genatlas</Source>
+                <Reference>FOXP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="42211">
+                <Source>HGNC</Source>
+                <Reference>3823</Reference>
+              </ExternalReference>
+              <ExternalReference id="42212">
+                <Source>OMIM</Source>
+                <Reference>605515</Reference>
+              </ExternalReference>
+              <ExternalReference id="42213">
+                <Source>SwissProt</Source>
+                <Reference>Q9H334</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38661">
+                <GeneLocus>3p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24013638[PMID]</SourceOfValidation>
+          <Gene id="22409">
+            <Name lang="en">paired box 5</Name>
+            <Symbol>PAX5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">B-cell lineage specific activator</Synonym>
+              <Synonym lang="en">BSAP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196092</Reference>
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+              <ExternalReference id="82050">
+                <Source>Genatlas</Source>
+                <Reference>PAX5</Reference>
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+              <ExternalReference id="82048">
+                <Source>HGNC</Source>
+                <Reference>8619</Reference>
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+              <ExternalReference id="82049">
+                <Source>OMIM</Source>
+                <Reference>167414</Reference>
+              </ExternalReference>
+              <ExternalReference id="82051">
+                <Source>SwissProt</Source>
+                <Reference>Q02548</Reference>
+              </ExternalReference>
+              <ExternalReference id="142868">
+                <Source>Reactome</Source>
+                <Reference>Q02548</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>9p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21962897[PMID]_22578776[PMID]_17179230[PMID]</SourceOfValidation>
+          <Gene id="22409">
+            <Name lang="en">paired box 5</Name>
+            <Symbol>PAX5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">B-cell lineage specific activator</Synonym>
+              <Synonym lang="en">BSAP</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="84029">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196092</Reference>
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+              <ExternalReference id="82050">
+                <Source>Genatlas</Source>
+                <Reference>PAX5</Reference>
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+              <ExternalReference id="82048">
+                <Source>HGNC</Source>
+                <Reference>8619</Reference>
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+              <ExternalReference id="82049">
+                <Source>OMIM</Source>
+                <Reference>167414</Reference>
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+              <ExternalReference id="82051">
+                <Source>SwissProt</Source>
+                <Reference>Q02548</Reference>
+              </ExternalReference>
+              <ExternalReference id="142868">
+                <Source>Reactome</Source>
+                <Reference>Q02548</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37455">
+                <GeneLocus>9p13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29211">
+      <OrphaCode>585909</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585909</ExpertLink>
+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18838613[PMID]</SourceOfValidation>
+          <Gene id="15426">
+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
+            <Symbol>CDKN2A</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">ARF</Synonym>
+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">CMM2</Synonym>
+              <Synonym lang="en">INK4</Synonym>
+              <Synonym lang="en">INK4a</Synonym>
+              <Synonym lang="en">MTS1</Synonym>
+              <Synonym lang="en">p14</Synonym>
+              <Synonym lang="en">p14ARF</Synonym>
+              <Synonym lang="en">p16</Synonym>
+              <Synonym lang="en">p16INK4a</Synonym>
+              <Synonym lang="en">p19</Synonym>
+              <Synonym lang="en">p19Arf</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58645">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147889</Reference>
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+              <ExternalReference id="26459">
+                <Source>Genatlas</Source>
+                <Reference>CDKN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="26461">
+                <Source>HGNC</Source>
+                <Reference>1787</Reference>
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+              <ExternalReference id="26460">
+                <Source>OMIM</Source>
+                <Reference>600160</Reference>
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+              <ExternalReference id="82807">
+                <Source>Reactome</Source>
+                <Reference>P42771</Reference>
+              </ExternalReference>
+              <ExternalReference id="82604">
+                <Source>SwissProt</Source>
+                <Reference>P42771</Reference>
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+            <LocusList count="1">
+              <Locus id="22457">
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+          </Gene>
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+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30561755[PMID]</SourceOfValidation>
+          <Gene id="15062">
+            <Name lang="en">ABL proto-oncogene 1, non-receptor tyrosine kinase</Name>
+            <Symbol>ABL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">JTK7</Synonym>
+              <Synonym lang="en">c-ABL</Synonym>
+              <Synonym lang="en">p150</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="24720">
+                <Source>OMIM</Source>
+                <Reference>189980</Reference>
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+              <ExternalReference id="58695">
+                <Source>Reactome</Source>
+                <Reference>P00519</Reference>
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+              <ExternalReference id="32339">
+                <Source>SwissProt</Source>
+                <Reference>P00519</Reference>
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+              <ExternalReference id="58694">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000097007</Reference>
+              </ExternalReference>
+              <ExternalReference id="24719">
+                <Source>Genatlas</Source>
+                <Reference>ABL1</Reference>
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+              <ExternalReference id="24721">
+                <Source>HGNC</Source>
+                <Reference>76</Reference>
+              </ExternalReference>
+              <ExternalReference id="82727">
+                <Source>IUPHAR</Source>
+                <Reference>1923</Reference>
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+            <LocusList count="1">
+              <Locus id="22709">
+                <GeneLocus>9q34.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23491079[PMID]</SourceOfValidation>
+          <Gene id="15365">
+            <Name lang="en">BCR activator of RhoGEF and GTPase</Name>
+            <Symbol>BCR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALL</Synonym>
+              <Synonym lang="en">CML</Synonym>
+              <Synonym lang="en">D22S662</Synonym>
+              <Synonym lang="en">PHL</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="56848">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186716</Reference>
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+              <ExternalReference id="36244">
+                <Source>Genatlas</Source>
+                <Reference>BCR</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1014</Reference>
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+              <ExternalReference id="87966">
+                <Source>IUPHAR</Source>
+                <Reference>2755</Reference>
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+                <Source>OMIM</Source>
+                <Reference>151410</Reference>
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+              <ExternalReference id="56849">
+                <Source>Reactome</Source>
+                <Reference>P11274</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11274</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19129520[PMID]_23751147[PMID]_19770381[PMID]_18408710[PMID]</SourceOfValidation>
+          <Gene id="21608">
+            <Name lang="en">IKAROS family zinc finger 1</Name>
+            <Symbol>IKZF1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Hs.54452</Synonym>
+              <Synonym lang="en">IKAROS</Synonym>
+              <Synonym lang="en">LyF-1</Synonym>
+              <Synonym lang="en">PPP1R92</Synonym>
+              <Synonym lang="en">hIk-1</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 92</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>OMIM</Source>
+                <Reference>603023</Reference>
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+              <ExternalReference id="75189">
+                <Source>SwissProt</Source>
+                <Reference>Q13422</Reference>
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+              <ExternalReference id="83581">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185811</Reference>
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+              <ExternalReference id="75188">
+                <Source>Genatlas</Source>
+                <Reference>IKZF1</Reference>
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+              <ExternalReference id="75186">
+                <Source>HGNC</Source>
+                <Reference>13176</Reference>
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+              <ExternalReference id="143810">
+                <Source>Reactome</Source>
+                <Reference>Q13422</Reference>
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+              <Locus id="39083">
+                <GeneLocus>7p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34218582[PMID]</SourceOfValidation>
+          <Gene id="15644">
+            <Name lang="en">tumor protein p53</Name>
+            <Symbol>TP53</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LFS1</Synonym>
+              <Synonym lang="en">Li-Fraumeni syndrome</Synonym>
+              <Synonym lang="en">P53</Synonym>
+              <Synonym lang="en">p53</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56954">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141510</Reference>
+              </ExternalReference>
+              <ExternalReference id="27518">
+                <Source>Genatlas</Source>
+                <Reference>TP53</Reference>
+              </ExternalReference>
+              <ExternalReference id="27516">
+                <Source>HGNC</Source>
+                <Reference>11998</Reference>
+              </ExternalReference>
+              <ExternalReference id="27515">
+                <Source>OMIM</Source>
+                <Reference>191170</Reference>
+              </ExternalReference>
+              <ExternalReference id="56955">
+                <Source>Reactome</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+              <ExternalReference id="32616">
+                <Source>SwissProt</Source>
+                <Reference>P04637</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7791">
+                <GeneLocus>17p13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="29686">
+            <Name lang="en">Biomarker tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16234090[PMID]</SourceOfValidation>
+          <Gene id="16784">
+            <Name lang="en">fms related receptor tyrosine kinase 3</Name>
+            <Symbol>FLT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD135</Synonym>
+              <Synonym lang="en">FLK2</Synonym>
+              <Synonym lang="en">STK1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
+              </ExternalReference>
+              <ExternalReference id="34918">
+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="34919">
+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
+              </ExternalReference>
+              <ExternalReference id="83027">
+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
+              </ExternalReference>
+              <ExternalReference id="34920">
+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
+              </ExternalReference>
+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+              <ExternalReference id="34921">
+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26261">
+                <GeneLocus>13q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25163702[PMID]</SourceOfValidation>
+          <Gene id="23067">
+            <Name lang="en">major histocompatibility complex, class I, C</Name>
+            <Symbol>HLA-C</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="94893">
+                <Source>OMIM</Source>
+                <Reference>142840</Reference>
+              </ExternalReference>
+              <ExternalReference id="94896">
+                <Source>Reactome</Source>
+                <Reference>P04222</Reference>
+              </ExternalReference>
+              <ExternalReference id="94897">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204525</Reference>
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+              <ExternalReference id="94894">
+                <Source>Genatlas</Source>
+                <Reference>HLA-C</Reference>
+              </ExternalReference>
+              <ExternalReference id="94892">
+                <Source>HGNC</Source>
+                <Reference>4933</Reference>
+              </ExternalReference>
+              <ExternalReference id="135291">
+                <Source>SwissProt</Source>
+                <Reference>P10321</Reference>
+              </ExternalReference>
+              <ExternalReference id="189365">
+                <Source>Reactome</Source>
+                <Reference>P10321</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29214">
+      <OrphaCode>585936</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585936</ExpertLink>
+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with hyperdiploidy</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23996088[PMID]_24141364[PMID]_24203929[PMID]</SourceOfValidation>
+          <Gene id="16103">
+            <Name lang="en">GATA binding protein 3</Name>
+            <Symbol>GATA3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HDR</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58164">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107485</Reference>
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+              <ExternalReference id="29722">
+                <Source>Genatlas</Source>
+                <Reference>GATA3</Reference>
+              </ExternalReference>
+              <ExternalReference id="29720">
+                <Source>HGNC</Source>
+                <Reference>4172</Reference>
+              </ExternalReference>
+              <ExternalReference id="29719">
+                <Source>OMIM</Source>
+                <Reference>131320</Reference>
+              </ExternalReference>
+              <ExternalReference id="58165">
+                <Source>Reactome</Source>
+                <Reference>P23771</Reference>
+              </ExternalReference>
+              <ExternalReference id="33118">
+                <Source>SwissProt</Source>
+                <Reference>P23771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>10p14</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23996088[PMID]</SourceOfValidation>
+          <Gene id="22585">
+            <Name lang="en">phosphatidylinositol-5-phosphate 4-kinase type 2 alpha</Name>
+            <Symbol>PIP4K2A</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PIP5KIIA</Synonym>
+              <Synonym lang="en">PIP5KIIalpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="84654">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150867</Reference>
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+              <ExternalReference id="84638">
+                <Source>Genatlas</Source>
+                <Reference>PIP4K2A</Reference>
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+              <ExternalReference id="84636">
+                <Source>HGNC</Source>
+                <Reference>8997</Reference>
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+              <ExternalReference id="84637">
+                <Source>OMIM</Source>
+                <Reference>603140</Reference>
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+              <ExternalReference id="84653">
+                <Source>Reactome</Source>
+                <Reference>P48426</Reference>
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+              <ExternalReference id="84639">
+                <Source>SwissProt</Source>
+                <Reference>P48426</Reference>
+              </ExternalReference>
+              <ExternalReference id="190604">
+                <Source>IUPHAR</Source>
+                <Reference>2858</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>10p12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="29212">
+      <OrphaCode>585918</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585918</ExpertLink>
+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30487223[PMID]</SourceOfValidation>
+          <Gene id="16409">
+            <Name lang="en">lysine methyltransferase 2A</Name>
+            <Symbol>KMT2A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ALL-1</Synonym>
+              <Synonym lang="en">CXXC7</Synonym>
+              <Synonym lang="en">HRX</Synonym>
+              <Synonym lang="en">HTRX1</Synonym>
+              <Synonym lang="en">Histone-lysine N-methyltransferase 2A</Synonym>
+              <Synonym lang="en">MLL1A</Synonym>
+              <Synonym lang="en">TRX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="190397">
+                <Source>IUPHAR</Source>
+                <Reference>2688</Reference>
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+              <ExternalReference id="59489">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118058</Reference>
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+              <ExternalReference id="95302">
+                <Source>Genatlas</Source>
+                <Reference>KMT2A</Reference>
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+              <ExternalReference id="31174">
+                <Source>HGNC</Source>
+                <Reference>7132</Reference>
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+              <ExternalReference id="31173">
+                <Source>OMIM</Source>
+                <Reference>159555</Reference>
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+              <ExternalReference id="97235">
+                <Source>Reactome</Source>
+                <Reference>Q03164</Reference>
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+              <ExternalReference id="33473">
+                <Source>SwissProt</Source>
+                <Reference>Q03164</Reference>
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+            <LocusList count="1">
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585929</ExpertLink>
+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+        <DisorderGeneAssociation>
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+          <Gene id="16866">
+            <Name lang="en">ETS variant transcription factor 6</Name>
+            <Symbol>ETV6</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TEL</Synonym>
+              <Synonym lang="en">TEL oncogene</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142917">
+                <Source>Reactome</Source>
+                <Reference>P41212</Reference>
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+              <ExternalReference id="58712">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139083</Reference>
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+              <ExternalReference id="35287">
+                <Source>Genatlas</Source>
+                <Reference>ETV6</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3495</Reference>
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+              <ExternalReference id="35289">
+                <Source>OMIM</Source>
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+              <ExternalReference id="35288">
+                <Source>SwissProt</Source>
+                <Reference>P41212</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Adult-onset autosomal dominant leukodystrophy</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>24501781[PMID]_23649844[PMID]</SourceOfValidation>
+          <Gene id="16365">
+            <Name lang="en">lamin B1</Name>
+            <Symbol>LMNB1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000113368</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6637</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59901">
+                <Source>Reactome</Source>
+                <Reference>P20700</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P20700</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="29217">
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+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)</Name>
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+              <Synonym lang="en">E47</Synonym>
+              <Synonym lang="en">ITF1</Synonym>
+              <Synonym lang="en">MGC129647</Synonym>
+              <Synonym lang="en">MGC129648</Synonym>
+              <Synonym lang="en">VDIR</Synonym>
+              <Synonym lang="en">VDR interacting repressor</Synonym>
+              <Synonym lang="en">bHLHb21</Synonym>
+              <Synonym lang="en">immunoglobulin transcription factor 1</Synonym>
+              <Synonym lang="en">kappa-E2-binding factor</Synonym>
+              <Synonym lang="en">p75</Synonym>
+              <Synonym lang="en">transcription factor E2-alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59948">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000071564</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>11633</Reference>
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+                <Source>OMIM</Source>
+                <Reference>147141</Reference>
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+              <ExternalReference id="59949">
+                <Source>Reactome</Source>
+                <Reference>P15923</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P15923</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31575852[PMID]</SourceOfValidation>
+          <Gene id="17919">
+            <Name lang="en">PBX homeobox 1</Name>
+            <Symbol>PBX1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185630</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>8632</Reference>
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+                <Source>OMIM</Source>
+                <Reference>176310</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P40424</Reference>
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+              <ExternalReference id="40339">
+                <Source>SwissProt</Source>
+                <Reference>P40424</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="29216">
+      <OrphaCode>585948</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=585948</ExpertLink>
+      <Name lang="en">B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1554798[PMID]</SourceOfValidation>
+          <Gene id="18437">
+            <Name lang="en">immunoglobulin heavy locus</Name>
+            <Symbol>IGH</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="190453">
+                <Source>OMIM</Source>
+                <Reference>146910</Reference>
+              </ExternalReference>
+              <ExternalReference id="190454">
+                <Source>OMIM</Source>
+                <Reference>147010</Reference>
+              </ExternalReference>
+              <ExternalReference id="190455">
+                <Source>OMIM</Source>
+                <Reference>147070</Reference>
+              </ExternalReference>
+              <ExternalReference id="42206">
+                <Source>Genatlas</Source>
+                <Reference>IGH@</Reference>
+              </ExternalReference>
+              <ExternalReference id="42207">
+                <Source>HGNC</Source>
+                <Reference>5477</Reference>
+              </ExternalReference>
+              <ExternalReference id="42208">
+                <Source>SwissProt</Source>
+                <Reference>Q6P089</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60319">
+                <GeneLocus>14q32.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14059">
+      <OrphaCode>99042</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99042</ExpertLink>
+      <Name lang="en">Congenitally uncorrected transposition of the great arteries with coarctation</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11799476[PMID]</SourceOfValidation>
+          <Gene id="15436">
+            <Name lang="en">cripto, FRL-1, cryptic family 1</Name>
+            <Symbol>CFC1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CRYPTIC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57926">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136698</Reference>
+              </ExternalReference>
+              <ExternalReference id="26508">
+                <Source>Genatlas</Source>
+                <Reference>CFC1</Reference>
+              </ExternalReference>
+              <ExternalReference id="26510">
+                <Source>HGNC</Source>
+                <Reference>18292</Reference>
+              </ExternalReference>
+              <ExternalReference id="26509">
+                <Source>OMIM</Source>
+                <Reference>605194</Reference>
+              </ExternalReference>
+              <ExternalReference id="82661">
+                <Source>Reactome</Source>
+                <Reference>P0CG37</Reference>
+              </ExternalReference>
+              <ExternalReference id="82605">
+                <Source>SwissProt</Source>
+                <Reference>P0CG37</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25479">
+                <GeneLocus>2q21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13693">
+      <OrphaCode>98676</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98676</ExpertLink>
+      <Name lang="en">Autosomal recessive isolated optic atrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="4">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27495975[PMID]</SourceOfValidation>
+          <Gene id="26989">
+            <Name lang="en">YME1 like 1 ATPase</Name>
+            <Symbol>YME1L1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">YME1L</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="191435">
+                <Source>OMIM</Source>
+                <Reference>607472</Reference>
+              </ExternalReference>
+              <ExternalReference id="157693">
+                <Source>HGNC</Source>
+                <Reference>12843</Reference>
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+              <ExternalReference id="200821">
+                <Source>SwissProt</Source>
+                <Reference>Q96TA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="162666">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136758</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="80617">
+                <GeneLocus>10p12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25351951[PMID]</SourceOfValidation>
+          <Gene id="21595">
+            <Name lang="en">aconitase 2</Name>
+            <Symbol>ACO2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ACONM</Synonym>
+              <Synonym lang="en">aconitate hydratase, mitochondrial</Synonym>
+              <Synonym lang="en">mitochondrial aconitase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83562">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100412</Reference>
+              </ExternalReference>
+              <ExternalReference id="74849">
+                <Source>Genatlas</Source>
+                <Reference>ACO2</Reference>
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+              <ExternalReference id="74847">
+                <Source>HGNC</Source>
+                <Reference>118</Reference>
+              </ExternalReference>
+              <ExternalReference id="74848">
+                <Source>OMIM</Source>
+                <Reference>100850</Reference>
+              </ExternalReference>
+              <ExternalReference id="83561">
+                <Source>Reactome</Source>
+                <Reference>Q99798</Reference>
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+              <ExternalReference id="74850">
+                <Source>SwissProt</Source>
+                <Reference>Q99798</Reference>
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+            <LocusList count="1">
+              <Locus id="12227">
+                <GeneLocus>22q13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26593267[PMID]</SourceOfValidation>
+          <Gene id="24878">
+            <Name lang="en">reticulon 4 interacting protein 1</Name>
+            <Symbol>RTN4IP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">NIMP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="132419">
+                <Source>OMIM</Source>
+                <Reference>610502</Reference>
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+              <ExternalReference id="143237">
+                <Source>Reactome</Source>
+                <Reference>Q8WWV3</Reference>
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+              <ExternalReference id="143238">
+                <Source>Genatlas</Source>
+                <Reference>RTN4IP1</Reference>
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+              <ExternalReference id="134053">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130347</Reference>
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+              <ExternalReference id="131695">
+                <Source>HGNC</Source>
+                <Reference>18647</Reference>
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+              <ExternalReference id="133142">
+                <Source>SwissProt</Source>
+                <Reference>Q8WWV3</Reference>
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+            <LocusList count="1">
+              <Locus id="38191">
+                <GeneLocus>6q21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>31915829[PMID]</SourceOfValidation>
+          <Gene id="29250">
+            <Name lang="en">malonyl-CoA-acyl carrier protein transacylase</Name>
+            <Symbol>MCAT</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">FASN2C</Synonym>
+              <Synonym lang="en">MCT</Synonym>
+              <Synonym lang="en">MCT1</Synonym>
+              <Synonym lang="en">MT</Synonym>
+              <Synonym lang="en">NET62</Synonym>
+              <Synonym lang="en">[acyl-carrier-protein] S-malonyltransferase</Synonym>
+              <Synonym lang="en">fabD</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="184122">
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+                <Reference>29622</Reference>
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+              <ExternalReference id="184123">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100294</Reference>
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+              <ExternalReference id="184124">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVS2</Reference>
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+              <ExternalReference id="184125">
+                <Source>Reactome</Source>
+                <Reference>Q8IVS2</Reference>
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+              <ExternalReference id="184126">
+                <Source>OMIM</Source>
+                <Reference>614479</Reference>
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+            <LocusList count="1">
+              <Locus id="55367">
+                <GeneLocus>22q13.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13690">
+      <OrphaCode>98673</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98673</ExpertLink>
+      <Name lang="en">Autosomal dominant optic atrophy, classic form</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
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+          <SourceOfValidation>20301426[PMID]</SourceOfValidation>
+          <Gene id="16590">
+            <Name lang="en">OPA1 mitochondrial dynamin like GTPase</Name>
+            <Symbol>OPA1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">Dynamin-like 120 kDa protein, mitochondrial</Synonym>
+              <Synonym lang="en">FLJ12460</Synonym>
+              <Synonym lang="en">KIAA0567</Synonym>
+              <Synonym lang="en">MGM1</Synonym>
+              <Synonym lang="en">NPG</Synonym>
+              <Synonym lang="en">NTG</Synonym>
+              <Synonym lang="en">dynamin-like guanosine triphosphatase</Synonym>
+              <Synonym lang="en">mitochondrial dynamin-like GTPase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126366">
+                <Source>Reactome</Source>
+                <Reference>O60313</Reference>
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+              <ExternalReference id="58353">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198836</Reference>
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+              <ExternalReference id="32016">
+                <Source>Genatlas</Source>
+                <Reference>OPA1</Reference>
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+              <ExternalReference id="32014">
+                <Source>HGNC</Source>
+                <Reference>8140</Reference>
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+              <ExternalReference id="32013">
+                <Source>OMIM</Source>
+                <Reference>605290</Reference>
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+              <ExternalReference id="33655">
+                <Source>SwissProt</Source>
+                <Reference>O60313</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>28969390[PMID]</SourceOfValidation>
+          <Gene id="22019">
+            <Name lang="en">dynamin 1 like</Name>
+            <Symbol>DNM1L</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DRP1</Synonym>
+              <Synonym lang="en">DVLP</Synonym>
+              <Synonym lang="en">DYMPLE</Synonym>
+              <Synonym lang="en">HDYNIV</Synonym>
+              <Synonym lang="en">VPS1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087470</Reference>
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+              <ExternalReference id="78662">
+                <Source>Genatlas</Source>
+                <Reference>DNM1L</Reference>
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+              <ExternalReference id="78660">
+                <Source>HGNC</Source>
+                <Reference>2973</Reference>
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+              <ExternalReference id="78661">
+                <Source>OMIM</Source>
+                <Reference>603850</Reference>
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+              <ExternalReference id="83762">
+                <Source>Reactome</Source>
+                <Reference>O00429</Reference>
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+              <ExternalReference id="78663">
+                <Source>SwissProt</Source>
+                <Reference>O00429</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13636">
+      <OrphaCode>98619</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98619</ExpertLink>
+      <Name lang="en">Rare isolated myopia</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23643385[PMID]</SourceOfValidation>
+          <Gene id="15260">
+            <Name lang="en">synthesis of cytochrome C oxidase 2</Name>
+            <Symbol>SCO2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SCO1L</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>SCO2</Reference>
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+              <ExternalReference id="25665">
+                <Source>HGNC</Source>
+                <Reference>10604</Reference>
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+              <ExternalReference id="189374">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000284194</Reference>
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+              <ExternalReference id="25664">
+                <Source>OMIM</Source>
+                <Reference>604272</Reference>
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+              <ExternalReference id="97166">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>O43819</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="20727">
+            <Name lang="en">prolyl 3-hydroxylase 2</Name>
+            <Symbol>P3H2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ10718</Synonym>
+              <Synonym lang="en">MLAT4</Synonym>
+              <Synonym lang="en">procollagen-proline 3-dioxygenase 2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="55789">
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+                <Reference>Q8IVL5</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090530</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LEPREL1</Reference>
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+                <Reference>19317</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q8IVL5</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23830514[PMID]</SourceOfValidation>
+          <Gene id="22274">
+            <Name lang="en">LDL receptor related protein associated protein 1</Name>
+            <Symbol>LRPAP1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBP44</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163956</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>LRPAP1</Reference>
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+                <Reference>6701</Reference>
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+                <Reference>104225</Reference>
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+                <Reference>P30533</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P30533</Reference>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="29042">
+      <OrphaCode>583602</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=583602</ExpertLink>
+      <Name lang="en">Neu-laxova syndrome due to phosphoserine aminotransferase deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25152457[PMID]</SourceOfValidation>
+          <Gene id="17414">
+            <Name lang="en">phosphoserine aminotransferase 1</Name>
+            <Symbol>PSAT1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">PSA</Synonym>
+              <Synonym lang="en">PSAT</Synonym>
+              <Synonym lang="en">phosphoserine transaminase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60595">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135069</Reference>
+              </ExternalReference>
+              <ExternalReference id="37638">
+                <Source>Genatlas</Source>
+                <Reference>PSAT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37640">
+                <Source>HGNC</Source>
+                <Reference>19129</Reference>
+              </ExternalReference>
+              <ExternalReference id="37639">
+                <Source>OMIM</Source>
+                <Reference>610936</Reference>
+              </ExternalReference>
+              <ExternalReference id="60596">
+                <Source>Reactome</Source>
+                <Reference>Q9Y617</Reference>
+              </ExternalReference>
+              <ExternalReference id="37641">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y617</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10175">
+                <GeneLocus>9q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="29043">
+      <OrphaCode>583607</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=583607</ExpertLink>
+      <Name lang="en">Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24836451[PMID]</SourceOfValidation>
+          <Gene id="15084">
+            <Name lang="en">phosphoglycerate dehydrogenase</Name>
+            <Symbol>PHGDH</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">D-3-phosphoglycerate dehydrogenase</Synonym>
+              <Synonym lang="en">PDG</Synonym>
+              <Synonym lang="en">PGDH</Synonym>
+              <Synonym lang="en">SERA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59395">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092621</Reference>
+              </ExternalReference>
+              <ExternalReference id="24832">
+                <Source>Genatlas</Source>
+                <Reference>PHGDH</Reference>
+              </ExternalReference>
+              <ExternalReference id="24830">
+                <Source>HGNC</Source>
+                <Reference>8923</Reference>
+              </ExternalReference>
+              <ExternalReference id="24829">
+                <Source>OMIM</Source>
+                <Reference>606879</Reference>
+              </ExternalReference>
+              <ExternalReference id="59396">
+                <Source>Reactome</Source>
+                <Reference>O43175</Reference>
+              </ExternalReference>
+              <ExternalReference id="32775">
+                <Source>SwissProt</Source>
+                <Reference>O43175</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6741">
+                <GeneLocus>1p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13812">
+      <OrphaCode>98795</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98795</ExpertLink>
+      <Name lang="en">Angelman syndrome due to paternal uniparental disomy of chromosome 15</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="15680">
+            <Name lang="en">ubiquitin protein ligase E3A</Name>
+            <Symbol>UBE3A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ANCR</Synonym>
+              <Synonym lang="en">AS</Synonym>
+              <Synonym lang="en">Angelman syndrome</Synonym>
+              <Synonym lang="en">E6-AP</Synonym>
+              <Synonym lang="en">FLJ26981</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114062</Reference>
+              </ExternalReference>
+              <ExternalReference id="27687">
+                <Source>Genatlas</Source>
+                <Reference>UBE3A</Reference>
+              </ExternalReference>
+              <ExternalReference id="27689">
+                <Source>HGNC</Source>
+                <Reference>12496</Reference>
+              </ExternalReference>
+              <ExternalReference id="27688">
+                <Source>OMIM</Source>
+                <Reference>601623</Reference>
+              </ExternalReference>
+              <ExternalReference id="56762">
+                <Source>Reactome</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+              <ExternalReference id="32652">
+                <Source>SwissProt</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7863">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13811">
+      <OrphaCode>98794</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98794</ExpertLink>
+      <Name lang="en">Angelman syndrome due to maternal 15q11q13 deletion</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="15680">
+            <Name lang="en">ubiquitin protein ligase E3A</Name>
+            <Symbol>UBE3A</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ANCR</Synonym>
+              <Synonym lang="en">AS</Synonym>
+              <Synonym lang="en">Angelman syndrome</Synonym>
+              <Synonym lang="en">E6-AP</Synonym>
+              <Synonym lang="en">FLJ26981</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56761">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000114062</Reference>
+              </ExternalReference>
+              <ExternalReference id="27687">
+                <Source>Genatlas</Source>
+                <Reference>UBE3A</Reference>
+              </ExternalReference>
+              <ExternalReference id="27689">
+                <Source>HGNC</Source>
+                <Reference>12496</Reference>
+              </ExternalReference>
+              <ExternalReference id="27688">
+                <Source>OMIM</Source>
+                <Reference>601623</Reference>
+              </ExternalReference>
+              <ExternalReference id="56762">
+                <Source>Reactome</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+              <ExternalReference id="32652">
+                <Source>SwissProt</Source>
+                <Reference>Q05086</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7863">
+                <GeneLocus>15q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10905897[PMID]_20301323[PMID]</SourceOfValidation>
+          <Gene id="16584">
+            <Name lang="en">OCA2 melanosomal transmembrane protein</Name>
+            <Symbol>OCA2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BEY</Synonym>
+              <Synonym lang="en">BEY1</Synonym>
+              <Synonym lang="en">BEY2</Synonym>
+              <Synonym lang="en">EYCL</Synonym>
+              <Synonym lang="en">P-protein</Synonym>
+              <Synonym lang="en">melanocyte-specific transporter protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126365">
+                <Source>Reactome</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+              <ExternalReference id="56859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104044</Reference>
+              </ExternalReference>
+              <ExternalReference id="31985">
+                <Source>Genatlas</Source>
+                <Reference>OCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31987">
+                <Source>HGNC</Source>
+                <Reference>8101</Reference>
+              </ExternalReference>
+              <ExternalReference id="51620">
+                <Source>OMIM</Source>
+                <Reference>611409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33649">
+                <Source>SwissProt</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26715">
+                <GeneLocus>15q12-q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13808">
+      <OrphaCode>98791</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98791</ExpertLink>
+      <Name lang="en">Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16185">
+            <Name lang="en">hemoglobin subunit alpha 2</Name>
+            <Symbol>HBA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBA-T2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59724">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000188536</Reference>
+              </ExternalReference>
+              <ExternalReference id="37120">
+                <Source>Genatlas</Source>
+                <Reference>HBA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30117">
+                <Source>HGNC</Source>
+                <Reference>4824</Reference>
+              </ExternalReference>
+              <ExternalReference id="30116">
+                <Source>OMIM</Source>
+                <Reference>141850</Reference>
+              </ExternalReference>
+              <ExternalReference id="82948">
+                <Source>Reactome</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
+              <ExternalReference id="33204">
+                <Source>SwissProt</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8803">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16819">
+            <Name lang="en">hemoglobin subunit alpha 1</Name>
+            <Symbol>HBA1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">HBA-T3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000206172</Reference>
+              </ExternalReference>
+              <ExternalReference id="35102">
+                <Source>Genatlas</Source>
+                <Reference>HBA1</Reference>
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+              <ExternalReference id="35100">
+                <Source>HGNC</Source>
+                <Reference>4823</Reference>
+              </ExternalReference>
+              <ExternalReference id="35101">
+                <Source>OMIM</Source>
+                <Reference>141800</Reference>
+              </ExternalReference>
+              <ExternalReference id="83037">
+                <Source>Reactome</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
+              <ExternalReference id="35103">
+                <Source>SwissProt</Source>
+                <Reference>P69905</Reference>
+              </ExternalReference>
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+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13823">
+      <OrphaCode>98806</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98806</ExpertLink>
+      <Name lang="en">Primary dystonia, DYT6 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301334[PMID]</SourceOfValidation>
+          <Gene id="18062">
+            <Name lang="en">THAP domain containing 1</Name>
+            <Symbol>THAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">4833431A01Rik</Synonym>
+              <Synonym lang="en">FLJ10477</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59832">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131931</Reference>
+              </ExternalReference>
+              <ExternalReference id="40845">
+                <Source>Genatlas</Source>
+                <Reference>THAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="40846">
+                <Source>HGNC</Source>
+                <Reference>20856</Reference>
+              </ExternalReference>
+              <ExternalReference id="40847">
+                <Source>OMIM</Source>
+                <Reference>609520</Reference>
+              </ExternalReference>
+              <ExternalReference id="40848">
+                <Source>SwissProt</Source>
+                <Reference>Q9NVV9</Reference>
+              </ExternalReference>
+              <ExternalReference id="143012">
+                <Source>Reactome</Source>
+                <Reference>Q9NVV9</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>8p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13822">
+      <OrphaCode>98805</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98805</ExpertLink>
+      <Name lang="en">Primary dystonia, DYT4 type</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21207">
+            <Name lang="en">tubulin beta 4A class IVa</Name>
+            <Symbol>TUBB4A</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Class IVa beta-tubulin</Synonym>
+              <Synonym lang="en">beta-5</Synonym>
+              <Synonym lang="en">class IVa beta-tubulin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83454">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104833</Reference>
+              </ExternalReference>
+              <ExternalReference id="100009">
+                <Source>Genatlas</Source>
+                <Reference>TUBB4A</Reference>
+              </ExternalReference>
+              <ExternalReference id="75304">
+                <Source>HGNC</Source>
+                <Reference>20774</Reference>
+              </ExternalReference>
+              <ExternalReference id="75305">
+                <Source>OMIM</Source>
+                <Reference>602662</Reference>
+              </ExternalReference>
+              <ExternalReference id="83453">
+                <Source>Reactome</Source>
+                <Reference>P04350</Reference>
+              </ExternalReference>
+              <ExternalReference id="75307">
+                <Source>SwissProt</Source>
+                <Reference>P04350</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="18977">
+                <GeneLocus>19p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13801">
+      <OrphaCode>98784</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98784</ExpertLink>
+      <Name lang="en">Autosomal dominant nocturnal frontal lobe epilepsy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7550350[PMID]_20301348[PMID]</SourceOfValidation>
+          <Gene id="15448">
+            <Name lang="en">cholinergic receptor nicotinic alpha 4 subunit</Name>
+            <Symbol>CHRNA4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">BFNC</Synonym>
+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 4 (neuronal)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59828">
+                <Source>Reactome</Source>
+                <Reference>P43681</Reference>
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+              <ExternalReference id="32417">
+                <Source>SwissProt</Source>
+                <Reference>P43681</Reference>
+              </ExternalReference>
+              <ExternalReference id="59827">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101204</Reference>
+              </ExternalReference>
+              <ExternalReference id="26566">
+                <Source>Genatlas</Source>
+                <Reference>CHRNA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="26568">
+                <Source>HGNC</Source>
+                <Reference>1958</Reference>
+              </ExternalReference>
+              <ExternalReference id="82811">
+                <Source>IUPHAR</Source>
+                <Reference>465</Reference>
+              </ExternalReference>
+              <ExternalReference id="26567">
+                <Source>OMIM</Source>
+                <Reference>118504</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7427">
+                <GeneLocus>20q13.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16826524[PMID]_20301348[PMID]</SourceOfValidation>
+          <Gene id="17307">
+            <Name lang="en">cholinergic receptor nicotinic alpha 2 subunit</Name>
+            <Symbol>CHRNA2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">acetylcholine receptor, nicotinic, alpha 2 (neuronal)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59824">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120903</Reference>
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+              <ExternalReference id="36764">
+                <Source>Genatlas</Source>
+                <Reference>CHRNA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="36766">
+                <Source>HGNC</Source>
+                <Reference>1956</Reference>
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+              <ExternalReference id="83074">
+                <Source>IUPHAR</Source>
+                <Reference>463</Reference>
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+              <ExternalReference id="36765">
+                <Source>OMIM</Source>
+                <Reference>118502</Reference>
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+              <ExternalReference id="59825">
+                <Source>Reactome</Source>
+                <Reference>Q15822</Reference>
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+              <ExternalReference id="36767">
+                <Source>SwissProt</Source>
+                <Reference>Q15822</Reference>
+              </ExternalReference>
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+                <GeneLocus>8p21.2</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11062464[PMID]_20301348[PMID]</SourceOfValidation>
+          <Gene id="17591">
+            <Name lang="en">cholinergic receptor nicotinic beta 2 subunit</Name>
+            <Symbol>CHRNB2</Symbol>
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+              <Synonym lang="en">acetylcholine receptor, nicotinic, beta 2 (neuronal)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59830">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160716</Reference>
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+              <ExternalReference id="38683">
+                <Source>Genatlas</Source>
+                <Reference>CHRNB2</Reference>
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+              <ExternalReference id="38794">
+                <Source>HGNC</Source>
+                <Reference>1962</Reference>
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+              <ExternalReference id="83106">
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+                <Reference>472</Reference>
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+              <ExternalReference id="38685">
+                <Source>OMIM</Source>
+                <Reference>118507</Reference>
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+              <ExternalReference id="59831">
+                <Source>Reactome</Source>
+                <Reference>P17787</Reference>
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+              <ExternalReference id="38686">
+                <Source>SwissProt</Source>
+                <Reference>P17787</Reference>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23086396[PMID]</SourceOfValidation>
+          <Gene id="21573">
+            <Name lang="en">potassium sodium-activated channel subfamily T member 1</Name>
+            <Symbol>KCNT1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">KCa4.1</Synonym>
+              <Synonym lang="en">KIAA1422</Synonym>
+              <Synonym lang="en">SLACK</Synonym>
+              <Synonym lang="en">Sequence like a calcium-activated K+ channel</Synonym>
+              <Synonym lang="en">Slo2.2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107147</Reference>
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+              <ExternalReference id="74739">
+                <Source>Genatlas</Source>
+                <Reference>KCNT1</Reference>
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+              <ExternalReference id="74737">
+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
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+                <Source>OMIM</Source>
+                <Reference>608167</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JUK3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23542697[PMID]_23542701[PMID]</SourceOfValidation>
+          <Gene id="22144">
+            <Name lang="en">DEP domain containing 5, GATOR1 subcomplex subunit</Name>
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+              <Synonym lang="en">DEP.5</Synonym>
+              <Synonym lang="en">KIAA0645</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000100150</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DEPDC5</Reference>
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+                <Source>HGNC</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>16222669[PMID]_20301348[PMID]</SourceOfValidation>
+          <Gene id="22658">
+            <Name lang="en">corticotropin releasing hormone</Name>
+            <Symbol>CRH</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CRF</Synonym>
+              <Synonym lang="en">CRH1</Synonym>
+              <Synonym lang="en">corticoliberin</Synonym>
+              <Synonym lang="en">corticotropin-releasing factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="88007">
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+                <Reference>ENSG00000147571</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">calcium binding protein 4</Name>
+            <Symbol>CABP4</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+          <Gene id="16044">
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinocerebellar ataxia type 14</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinocerebellar ataxia type 5</Name>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000173898</Reference>
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+      <Name lang="en">Spinocerebellar ataxia type 4</Name>
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+            <Name lang="en">pleckstrin homology and RhoGEF domain containing G4</Name>
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+              <Synonym lang="en">puratrophin-1</Synonym>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196155</Reference>
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+                <Reference>24501</Reference>
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+                <Reference>609526</Reference>
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+      <Name lang="en">Spinocerebellar ataxia type 8</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15341">
+            <Name lang="en">ataxin 8</Name>
+            <Symbol>ATXN8</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="37016">
+                <Source>Genatlas</Source>
+                <Reference>ATXN8</Reference>
+              </ExternalReference>
+              <ExternalReference id="26055">
+                <Source>HGNC</Source>
+                <Reference>32925</Reference>
+              </ExternalReference>
+              <ExternalReference id="44920">
+                <Source>OMIM</Source>
+                <Reference>613289</Reference>
+              </ExternalReference>
+              <ExternalReference id="33898">
+                <Source>SwissProt</Source>
+                <Reference>Q156A1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7237">
+                <GeneLocus>13q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17197">
+            <Name lang="en">ATXN8 opposite strand lncRNA</Name>
+            <Symbol>ATXN8OS</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NCRNA00003</Synonym>
+              <Synonym lang="en">non-protein coding RNA 3</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="126189">
+                <Source>SwissProt</Source>
+                <Reference>P0DMR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="59807">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000230223</Reference>
+              </ExternalReference>
+              <ExternalReference id="36258">
+                <Source>Genatlas</Source>
+                <Reference>ATXN8OS</Reference>
+              </ExternalReference>
+              <ExternalReference id="36260">
+                <Source>HGNC</Source>
+                <Reference>10561</Reference>
+              </ExternalReference>
+              <ExternalReference id="36259">
+                <Source>OMIM</Source>
+                <Reference>603680</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26573">
+                <GeneLocus>13q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13776">
+      <OrphaCode>98759</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98759</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 17</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15583">
+            <Name lang="en">TATA-box binding protein</Name>
+            <Symbol>TBP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TFIID</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59805">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000112592</Reference>
+              </ExternalReference>
+              <ExternalReference id="27225">
+                <Source>Genatlas</Source>
+                <Reference>TBP</Reference>
+              </ExternalReference>
+              <ExternalReference id="27223">
+                <Source>HGNC</Source>
+                <Reference>11588</Reference>
+              </ExternalReference>
+              <ExternalReference id="27222">
+                <Source>OMIM</Source>
+                <Reference>600075</Reference>
+              </ExternalReference>
+              <ExternalReference id="59806">
+                <Source>Reactome</Source>
+                <Reference>P20226</Reference>
+              </ExternalReference>
+              <ExternalReference id="32554">
+                <Source>SwissProt</Source>
+                <Reference>P20226</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7683">
+                <GeneLocus>6q27</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13779">
+      <OrphaCode>98762</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98762</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 12</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15131">
+            <Name lang="en">protein phosphatase 2 regulatory subunit Bbeta</Name>
+            <Symbol>PPP2R2B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">B55beta</Synonym>
+              <Synonym lang="en">PP2A subunit B isoform beta</Synonym>
+              <Synonym lang="en">PR52B</Synonym>
+              <Synonym lang="en">PR55-BETA</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143952">
+                <Source>Reactome</Source>
+                <Reference>Q00005</Reference>
+              </ExternalReference>
+              <ExternalReference id="59809">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156475</Reference>
+              </ExternalReference>
+              <ExternalReference id="25060">
+                <Source>Genatlas</Source>
+                <Reference>PPP2R2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="25058">
+                <Source>HGNC</Source>
+                <Reference>9305</Reference>
+              </ExternalReference>
+              <ExternalReference id="25057">
+                <Source>OMIM</Source>
+                <Reference>604325</Reference>
+              </ExternalReference>
+              <ExternalReference id="33242">
+                <Source>SwissProt</Source>
+                <Reference>Q00005</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39373">
+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="13778">
+      <OrphaCode>98761</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98761</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 10</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15337">
+            <Name lang="en">ataxin 10</Name>
+            <Symbol>ATXN10</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">E46L</Synonym>
+              <Synonym lang="en">FLJ37990</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="142926">
+                <Source>Reactome</Source>
+                <Reference>Q9UBB4</Reference>
+              </ExternalReference>
+              <ExternalReference id="59808">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130638</Reference>
+              </ExternalReference>
+              <ExternalReference id="26037">
+                <Source>Genatlas</Source>
+                <Reference>ATXN10</Reference>
+              </ExternalReference>
+              <ExternalReference id="26035">
+                <Source>HGNC</Source>
+                <Reference>10549</Reference>
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+              <ExternalReference id="26034">
+                <Source>OMIM</Source>
+                <Reference>611150</Reference>
+              </ExternalReference>
+              <ExternalReference id="33894">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBB4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37569">
+                <GeneLocus>22q13.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="13789">
+      <OrphaCode>98772</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98772</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 19/22</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22890214[PMID]</SourceOfValidation>
+          <Gene id="21162">
+            <Name lang="en">potassium voltage-gated channel subfamily D member 3</Name>
+            <Symbol>KCND3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KSHIVB</Synonym>
+              <Synonym lang="en">Kv4.3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="83387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171385</Reference>
+              </ExternalReference>
+              <ExternalReference id="69556">
+                <Source>Genatlas</Source>
+                <Reference>KCND3</Reference>
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+              <ExternalReference id="69554">
+                <Source>HGNC</Source>
+                <Reference>6239</Reference>
+              </ExternalReference>
+              <ExternalReference id="83388">
+                <Source>IUPHAR</Source>
+                <Reference>554</Reference>
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+              <ExternalReference id="69555">
+                <Source>OMIM</Source>
+                <Reference>605411</Reference>
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+              <ExternalReference id="83386">
+                <Source>Reactome</Source>
+                <Reference>Q9UK17</Reference>
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+              <ExternalReference id="69557">
+                <Source>SwissProt</Source>
+                <Reference>Q9UK17</Reference>
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+                <GeneLocus>1p13.2</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13788">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98771</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 18</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <Gene id="18459">
+            <Name lang="en">interferon related developmental regulator 1</Name>
+            <Symbol>IFRD1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PC4</Synonym>
+              <Synonym lang="en">TIS7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59822">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006652</Reference>
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+              <ExternalReference id="42390">
+                <Source>Genatlas</Source>
+                <Reference>IFRD1</Reference>
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+              <ExternalReference id="42391">
+                <Source>HGNC</Source>
+                <Reference>5456</Reference>
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+              <ExternalReference id="42392">
+                <Source>OMIM</Source>
+                <Reference>603502</Reference>
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+              <ExternalReference id="42393">
+                <Source>SwissProt</Source>
+                <Reference>O00458</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13790">
+      <OrphaCode>98773</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98773</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 21</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25070513[PMID]</SourceOfValidation>
+          <Gene id="23052">
+            <Name lang="en">transmembrane protein 240</Name>
+            <Symbol>TMEM240</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205090</Reference>
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+              <ExternalReference id="97367">
+                <Source>Genatlas</Source>
+                <Reference>TMEM240</Reference>
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+                <Source>HGNC</Source>
+                <Reference>25186</Reference>
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+                <Source>OMIM</Source>
+                <Reference>616101</Reference>
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+              <ExternalReference id="94834">
+                <Source>SwissProt</Source>
+                <Reference>Q5SV17</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13785">
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+      <Name lang="en">Spinocerebellar ataxia type 13</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">potassium voltage-gated channel subfamily C member 3</Name>
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+            <SynonymList count="1">
+              <Synonym lang="en">Kv3.3</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>6235</Reference>
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+              <ExternalReference id="83086">
+                <Source>IUPHAR</Source>
+                <Reference>550</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14003</Reference>
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+              <ExternalReference id="37187">
+                <Source>SwissProt</Source>
+                <Reference>Q14003</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131398</Reference>
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+              <ExternalReference id="37184">
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13784">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98767</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 11</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">tau tubulin kinase 2</Name>
+            <Symbol>TTBK2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA0847</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>Q6IQ55</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000128881</Reference>
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+              <ExternalReference id="36757">
+                <Source>Genatlas</Source>
+                <Reference>TTBK2</Reference>
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+                <Reference>19141</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2263</Reference>
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+              <ExternalReference id="70225">
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+                <Reference>611695</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q6IQ55</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13786">
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+      <Name lang="en">Spinocerebellar ataxia type 15/16</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="17412">
+            <Name lang="en">inositol 1,4,5-trisphosphate receptor type 1</Name>
+            <Symbol>ITPR1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ACV</Synonym>
+              <Synonym lang="en">IP3R1</Synonym>
+              <Synonym lang="en">Insp3r1</Synonym>
+              <Synonym lang="en">PPP1R94</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 94</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59820">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000150995</Reference>
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+              <ExternalReference id="37627">
+                <Source>Genatlas</Source>
+                <Reference>ITPR1</Reference>
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+              <ExternalReference id="37629">
+                <Source>HGNC</Source>
+                <Reference>6180</Reference>
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+              <ExternalReference id="37628">
+                <Source>OMIM</Source>
+                <Reference>147265</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14643</Reference>
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+              <ExternalReference id="37630">
+                <Source>SwissProt</Source>
+                <Reference>Q14643</Reference>
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+              <ExternalReference id="190349">
+                <Source>IUPHAR</Source>
+                <Reference>743</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>580940</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=580940</ExpertLink>
+      <Name lang="en">QRICH1-related intellectual disability-chondrodysplasia syndrome</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>28692176[PMID]_30281152[PMID]</SourceOfValidation>
+          <Gene id="25728">
+            <Name lang="en">glutamine rich 1</Name>
+            <Symbol>QRICH1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AB-DIP</Synonym>
+              <Synonym lang="en">FLJ20259</Synonym>
+              <Synonym lang="en">VERBRAS</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="146918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198218</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q2TAL8</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Lethal brain and heart developmental defects</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>29555651[PMID]</SourceOfValidation>
+          <Gene id="29235">
+            <Name lang="en">sirtuin 6</Name>
+            <Symbol>SIRT6</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="184049">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077463</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8N6T7</Reference>
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+              <ExternalReference id="184051">
+                <Source>Reactome</Source>
+                <Reference>Q8N6T7</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2712</Reference>
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+                <Reference>606211</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+      <Name lang="en">Spinocerebellar ataxia type 1</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
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+            <Name lang="en">ataxin 1</Name>
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+              <Synonym lang="en">ATX1</Synonym>
+              <Synonym lang="en">D6S504E</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124788</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATXN1</Reference>
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+                <Source>HGNC</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Spinocerebellar ataxia type 2</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation/>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Spinocerebellar ataxia type 6</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301505[PMID]</SourceOfValidation>
+          <Gene id="16584">
+            <Name lang="en">OCA2 melanosomal transmembrane protein</Name>
+            <Symbol>OCA2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">BEY</Synonym>
+              <Synonym lang="en">BEY1</Synonym>
+              <Synonym lang="en">BEY2</Synonym>
+              <Synonym lang="en">EYCL</Synonym>
+              <Synonym lang="en">P-protein</Synonym>
+              <Synonym lang="en">melanocyte-specific transporter protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126365">
+                <Source>Reactome</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+              <ExternalReference id="56859">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104044</Reference>
+              </ExternalReference>
+              <ExternalReference id="31985">
+                <Source>Genatlas</Source>
+                <Reference>OCA2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31987">
+                <Source>HGNC</Source>
+                <Reference>8101</Reference>
+              </ExternalReference>
+              <ExternalReference id="51620">
+                <Source>OMIM</Source>
+                <Reference>611409</Reference>
+              </ExternalReference>
+              <ExternalReference id="33649">
+                <Source>SwissProt</Source>
+                <Reference>Q04671</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26715">
+                <GeneLocus>15q12-q13.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28845">
+      <OrphaCode>576232</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=576232</ExpertLink>
+      <Name lang="en">Partial atrioventricular septal defect with ventricular hypoplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17643447[PMID]</SourceOfValidation>
+          <Gene id="16104">
+            <Name lang="en">GATA binding protein 4</Name>
+            <Symbol>GATA4</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136574</Reference>
+              </ExternalReference>
+              <ExternalReference id="29724">
+                <Source>Genatlas</Source>
+                <Reference>GATA4</Reference>
+              </ExternalReference>
+              <ExternalReference id="29726">
+                <Source>HGNC</Source>
+                <Reference>4173</Reference>
+              </ExternalReference>
+              <ExternalReference id="29725">
+                <Source>OMIM</Source>
+                <Reference>600576</Reference>
+              </ExternalReference>
+              <ExternalReference id="57702">
+                <Source>Reactome</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+              <ExternalReference id="33119">
+                <Source>SwissProt</Source>
+                <Reference>P43694</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25853">
+                <GeneLocus>8p23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28846">
+      <OrphaCode>576235</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=576235</ExpertLink>
+      <Name lang="en">Partial atrioventricular septal defect without ventricular hypoplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12632326[PMID]_15096951[PMID]_21080147[PMID]</SourceOfValidation>
+          <Gene id="15802">
+            <Name lang="en">cysteine rich with EGF like domains 1</Name>
+            <Symbol>CRELD1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">CIRRIN</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58843">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000163703</Reference>
+              </ExternalReference>
+              <ExternalReference id="28262">
+                <Source>Genatlas</Source>
+                <Reference>CRELD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28260">
+                <Source>HGNC</Source>
+                <Reference>14630</Reference>
+              </ExternalReference>
+              <ExternalReference id="28259">
+                <Source>OMIM</Source>
+                <Reference>607170</Reference>
+              </ExternalReference>
+              <ExternalReference id="32813">
+                <Source>SwissProt</Source>
+                <Reference>Q96HD1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8077">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="28843">
+      <OrphaCode>576227</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=576227</ExpertLink>
+      <Name lang="en">Complete atrioventricular septal defect without ventricular hypoplasia</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35719119[PMID]</SourceOfValidation>
+          <Gene id="19223">
+            <Name lang="en">myocyte enhancer factor 2C</Name>
+            <Symbol>MEF2C</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60384">
+                <Source>Reactome</Source>
+                <Reference>Q06413</Reference>
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+              <ExternalReference id="46411">
+                <Source>SwissProt</Source>
+                <Reference>Q06413</Reference>
+              </ExternalReference>
+              <ExternalReference id="60383">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000081189</Reference>
+              </ExternalReference>
+              <ExternalReference id="46409">
+                <Source>Genatlas</Source>
+                <Reference>MEF2C</Reference>
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+              <ExternalReference id="46410">
+                <Source>HGNC</Source>
+                <Reference>6996</Reference>
+              </ExternalReference>
+              <ExternalReference id="46412">
+                <Source>OMIM</Source>
+                <Reference>600662</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="11079">
+                <GeneLocus>5q14.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="28832">
+      <OrphaCode>575553</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=575553</ExpertLink>
+      <Name lang="en">Cathepsin A-related arteriopathy-strokes-leukoencephalopathy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31177426[PMID]</SourceOfValidation>
+          <Gene id="15821">
+            <Name lang="en">cathepsin A</Name>
+            <Symbol>CTSA</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">carboxypeptidase C</Synonym>
+              <Synonym lang="en">carboxypeptidase Y-like kininase</Synonym>
+              <Synonym lang="en">carboxypeptidase-L</Synonym>
+              <Synonym lang="en">deamidase</Synonym>
+              <Synonym lang="en">lysosomal carboxypeptidase A</Synonym>
+              <Synonym lang="en">lysosomal protective protein</Synonym>
+              <Synonym lang="en">urinary kininase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="57342">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064601</Reference>
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+              <ExternalReference id="37416">
+                <Source>Genatlas</Source>
+                <Reference>CTSA</Reference>
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+              <ExternalReference id="28349">
+                <Source>HGNC</Source>
+                <Reference>9251</Reference>
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+              <ExternalReference id="82871">
+                <Source>IUPHAR</Source>
+                <Reference>1581</Reference>
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+              <ExternalReference id="46528">
+                <Source>OMIM</Source>
+                <Reference>613111</Reference>
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+              <ExternalReference id="57343">
+                <Source>Reactome</Source>
+                <Reference>P10619</Reference>
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+              <ExternalReference id="32832">
+                <Source>SwissProt</Source>
+                <Reference>P10619</Reference>
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+            <LocusList count="1">
+              <Locus id="8115">
+                <GeneLocus>20q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28852">
+      <OrphaCode>576349</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=576349</ExpertLink>
+      <Name lang="en">NLRC4-related familial cold autoinflammatory syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>25385754[PMID]_31953710[PMID]_28957823[PMID]_29247997[PMID]_29496273[PMID]</SourceOfValidation>
+          <Gene id="23504">
+            <Name lang="en">NLR family CARD domain containing 4</Name>
+            <Symbol>NLRC4</Symbol>
+            <SynonymList count="10">
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+              <Synonym lang="en">CLAN1</Synonym>
+              <Synonym lang="en">CLANA</Synonym>
+              <Synonym lang="en">CLANB</Synonym>
+              <Synonym lang="en">CLANC</Synonym>
+              <Synonym lang="en">CLAND</Synonym>
+              <Synonym lang="en">CLR2.1</Synonym>
+              <Synonym lang="en">NOD-like receptor C4</Synonym>
+              <Synonym lang="en">ipaf</Synonym>
+              <Synonym lang="en">nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="97614">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000091106</Reference>
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+              <ExternalReference id="97612">
+                <Source>Genatlas</Source>
+                <Reference>NLRC4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>16412</Reference>
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+              <ExternalReference id="97615">
+                <Source>IUPHAR</Source>
+                <Reference>1782</Reference>
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+              <ExternalReference id="97611">
+                <Source>OMIM</Source>
+                <Reference>606831</Reference>
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+              <ExternalReference id="97616">
+                <Source>Reactome</Source>
+                <Reference>Q9NPP4</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NPP4</Reference>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28851">
+      <OrphaCode>576283</OrphaCode>
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+      <Name lang="en">SATB2-associated syndrome due to a pathogenic variant</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="16802">
+            <Name lang="en">SATB homeobox 2</Name>
+            <Symbol>SATB2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ21474</Synonym>
+              <Synonym lang="en">KIAA1034</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143951">
+                <Source>Reactome</Source>
+                <Reference>Q9UPW6</Reference>
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+              <ExternalReference id="60285">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119042</Reference>
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+              <ExternalReference id="35011">
+                <Source>Genatlas</Source>
+                <Reference>SATB2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21637</Reference>
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+              <ExternalReference id="35009">
+                <Source>OMIM</Source>
+                <Reference>608148</Reference>
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+              <ExternalReference id="35008">
+                <Source>SwissProt</Source>
+                <Reference>Q9UPW6</Reference>
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+                <GeneLocus>2q33.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="26666">
+            <Name lang="en">Janus kinase 1</Name>
+            <Symbol>JAK1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">JAK1A</Synonym>
+              <Synonym lang="en">JTK3</Synonym>
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+                <Source>HGNC</Source>
+                <Reference>6190</Reference>
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+              <ExternalReference id="200691">
+                <Source>SwissProt</Source>
+                <Reference>P23458</Reference>
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+              <ExternalReference id="191157">
+                <Source>OMIM</Source>
+                <Reference>147795</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2047</Reference>
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+              <ExternalReference id="156693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162434</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>JAK1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>574918</OrphaCode>
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+      <Name lang="en">Predisposition to severe viral infection due to IRF7 deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">interferon regulatory factor 7</Name>
+            <Symbol>IRF7</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Genatlas</Source>
+                <Reference>IRF7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92985</Reference>
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+              <ExternalReference id="132179">
+                <Source>OMIM</Source>
+                <Reference>605047</Reference>
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+              <ExternalReference id="131447">
+                <Source>HGNC</Source>
+                <Reference>6122</Reference>
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+              <ExternalReference id="134361">
+                <Source>Reactome</Source>
+                <Reference>Q92985</Reference>
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+              <ExternalReference id="134126">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185507</Reference>
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+                <GeneLocus>11p15.5</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="28738">
+      <OrphaCode>572385</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572385</ExpertLink>
+      <Name lang="en">Brachydactyly type B1</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24954533[PMID]_18554391[PMID]</SourceOfValidation>
+          <Gene id="15221">
+            <Name lang="en">receptor tyrosine kinase like orphan receptor 2</Name>
+            <Symbol>ROR2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58077">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169071</Reference>
+              </ExternalReference>
+              <ExternalReference id="25481">
+                <Source>Genatlas</Source>
+                <Reference>ROR2</Reference>
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+              <ExternalReference id="25479">
+                <Source>HGNC</Source>
+                <Reference>10257</Reference>
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+              <ExternalReference id="82762">
+                <Source>IUPHAR</Source>
+                <Reference>1846</Reference>
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+              <ExternalReference id="25478">
+                <Source>OMIM</Source>
+                <Reference>602337</Reference>
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+              <ExternalReference id="84567">
+                <Source>Reactome</Source>
+                <Reference>Q01974</Reference>
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+              <ExternalReference id="33779">
+                <Source>SwissProt</Source>
+                <Reference>Q01974</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22859">
+                <GeneLocus>9q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="28736">
+      <OrphaCode>572361</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572361</ExpertLink>
+      <Name lang="en">Blepharophimosis-ptosis-epicanthus inversus syndrome type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30029625[PMID]_31823134[PMID]</SourceOfValidation>
+          <Gene id="16068">
+            <Name lang="en">forkhead box L2</Name>
+            <Symbol>FOXL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BPES1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57047">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183770</Reference>
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+              <ExternalReference id="29553">
+                <Source>Genatlas</Source>
+                <Reference>FOXL2</Reference>
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+              <ExternalReference id="29555">
+                <Source>HGNC</Source>
+                <Reference>1092</Reference>
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+              <ExternalReference id="29554">
+                <Source>OMIM</Source>
+                <Reference>605597</Reference>
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+              <ExternalReference id="33083">
+                <Source>SwissProt</Source>
+                <Reference>P58012</Reference>
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+              <ExternalReference id="143902">
+                <Source>Reactome</Source>
+                <Reference>P58012</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28746">
+      <OrphaCode>572428</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572428</ExpertLink>
+      <Name lang="en">Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>29455859[PMID]_31953170[PMID]</SourceOfValidation>
+          <Gene id="27131">
+            <Name lang="en">2'-5'-oligoadenylate synthetase 1</Name>
+            <Symbol>OAS1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">2'-5' oligoadenylate synthase 1</Synonym>
+              <Synonym lang="en">IFI-4</Synonym>
+              <Synonym lang="en">OIASI</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>8086</Reference>
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+              <ExternalReference id="158402">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000089127</Reference>
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+              <ExternalReference id="158403">
+                <Source>SwissProt</Source>
+                <Reference>P00973</Reference>
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+              <ExternalReference id="158404">
+                <Source>OMIM</Source>
+                <Reference>164350</Reference>
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+              <ExternalReference id="158405">
+                <Source>Genatlas</Source>
+                <Reference>OAS1</Reference>
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+              <ExternalReference id="158406">
+                <Source>Reactome</Source>
+                <Reference>P00973</Reference>
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+              <Locus id="66883">
+                <GeneLocus>12q24.13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="13451">
+      <OrphaCode>98434</OrphaCode>
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+      <Name lang="en">Hereditary combined deficiency of vitamin K-dependent clotting factors</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16720838[PMID]</SourceOfValidation>
+          <Gene id="16119">
+            <Name lang="en">gamma-glutamyl carboxylase</Name>
+            <Symbol>GGCX</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">VKCFD1</Synonym>
+              <Synonym lang="en">peptidyl-glutamate 4-carboxylase</Synonym>
+              <Synonym lang="en">vitamin K-dependent gamma-carboxylase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59647">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115486</Reference>
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+              <ExternalReference id="29800">
+                <Source>Genatlas</Source>
+                <Reference>GGCX</Reference>
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+              <ExternalReference id="29798">
+                <Source>HGNC</Source>
+                <Reference>4247</Reference>
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+              <ExternalReference id="82928">
+                <Source>IUPHAR</Source>
+                <Reference>1268</Reference>
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+              <ExternalReference id="29797">
+                <Source>OMIM</Source>
+                <Reference>137167</Reference>
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+              <ExternalReference id="59648">
+                <Source>Reactome</Source>
+                <Reference>P38435</Reference>
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+              <ExternalReference id="33134">
+                <Source>SwissProt</Source>
+                <Reference>P38435</Reference>
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+              <Locus id="21831">
+                <GeneLocus>2p11.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>14765194[PMID]</SourceOfValidation>
+          <Gene id="17339">
+            <Name lang="en">vitamin K epoxide reductase complex subunit 1</Name>
+            <Symbol>VKORC1</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59801">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167397</Reference>
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+              <ExternalReference id="36896">
+                <Source>Genatlas</Source>
+                <Reference>VKORC1</Reference>
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+              <ExternalReference id="36898">
+                <Source>HGNC</Source>
+                <Reference>23663</Reference>
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+              <ExternalReference id="83080">
+                <Source>IUPHAR</Source>
+                <Reference>2645</Reference>
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+                <Source>OMIM</Source>
+                <Reference>608547</Reference>
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+              <ExternalReference id="59802">
+                <Source>Reactome</Source>
+                <Reference>Q9BQB6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BQB6</Reference>
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+                <GeneLocus>16p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28754">
+      <OrphaCode>572543</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572543</ExpertLink>
+      <Name lang="en">RFVT2-related riboflavin transporter deficiency</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>26973221[PMID]_30793323[PMID]</SourceOfValidation>
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+            <Name lang="en">solute carrier family 52 member 2</Name>
+            <Symbol>SLC52A2</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">D15Ertd747e</Synonym>
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+              <Synonym lang="en">GPCR41</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="126409">
+                <Source>Reactome</Source>
+                <Reference>Q9HAB3</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2572</Reference>
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+              <ExternalReference id="89570">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185803</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC52A2</Reference>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+      <Name lang="en">RFVT3-related riboflavin transporter deficiency</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Name lang="en">solute carrier family 52 member 3</Name>
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+              <Synonym lang="en">Hypothetical protein LOC113278</Synonym>
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+              <Synonym lang="en">bA371L19.1</Synonym>
+              <Synonym lang="en">hRFT2</Synonym>
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+                <Source>IUPHAR</Source>
+                <Reference>2573</Reference>
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+              <ExternalReference id="59150">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101276</Reference>
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+              <ExternalReference id="99998">
+                <Source>Genatlas</Source>
+                <Reference>SLC52A3</Reference>
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+                <Reference>16187</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9NQ40</Reference>
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+      <Name lang="en">Microcephaly-short stature-limb abnormalities syndrome</Name>
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+            <Name lang="en">DNA replication fork stabilization factor DONSON</Name>
+            <Symbol>DONSON</Symbol>
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+              <Synonym lang="en">C2TA</Synonym>
+              <Synonym lang="en">DKFZP434M035</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159147</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NYP3</Reference>
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+                <Source>OMIM</Source>
+                <Reference>611428</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>DONSON</Reference>
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+          <Gene id="25033">
+            <Name lang="en">tryptophanyl tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>WARS2</Symbol>
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+              <Synonym lang="en">tryptophan tRNA ligase 2, mitochondrial</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="142911">
+                <Source>Genatlas</Source>
+                <Reference>WARS2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12730</Reference>
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+              <ExternalReference id="133297">
+                <Source>SwissProt</Source>
+                <Reference>Q9UGM6</Reference>
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+                <Source>OMIM</Source>
+                <Reference>604733</Reference>
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+              <ExternalReference id="133939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116874</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28765">
+      <OrphaCode>572768</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572768</ExpertLink>
+      <Name lang="en">Microcephaly-micromelia syndrome</Name>
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+          <Gene id="25764">
+            <Name lang="en">DNA replication fork stabilization factor DONSON</Name>
+            <Symbol>DONSON</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">B17</Synonym>
+              <Synonym lang="en">C2TA</Synonym>
+              <Synonym lang="en">DKFZP434M035</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="147169">
+                <Source>HGNC</Source>
+                <Reference>2993</Reference>
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+              <ExternalReference id="147170">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159147</Reference>
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+              <ExternalReference id="147171">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYP3</Reference>
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+              <ExternalReference id="147172">
+                <Source>OMIM</Source>
+                <Reference>611428</Reference>
+              </ExternalReference>
+              <ExternalReference id="147173">
+                <Source>Genatlas</Source>
+                <Reference>DONSON</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="41935">
+                <GeneLocus>21q22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28726">
+      <OrphaCode>572013</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572013</ExpertLink>
+      <Name lang="en">Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>30471716[PMID]_24507697[PMID]_24932993[PMID]</SourceOfValidation>
+          <Gene id="28927">
+            <Name lang="en">microtubule actin crosslinking factor 1</Name>
+            <Symbol>MACF1</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">620 kDa actin binding protein</Synonym>
+              <Synonym lang="en">ABP620</Synonym>
+              <Synonym lang="en">ACF7</Synonym>
+              <Synonym lang="en">FLJ45612</Synonym>
+              <Synonym lang="en">FLJ46776</Synonym>
+              <Synonym lang="en">KIAA0465</Synonym>
+              <Synonym lang="en">KIAA1251</Synonym>
+              <Synonym lang="en">Lnc-PMIF</Synonym>
+              <Synonym lang="en">MACF</Synonym>
+              <Synonym lang="en">actin cross-linking factor</Synonym>
+              <Synonym lang="en">actin cross-linking family protein 7</Synonym>
+              <Synonym lang="en">macrophin 1</Synonym>
+              <Synonym lang="en">postulated migration inhibitory factor</Synonym>
+              <Synonym lang="en">trabeculin-alpha</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="180399">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127603</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPN3</Reference>
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+              <ExternalReference id="180401">
+                <Source>Reactome</Source>
+                <Reference>Q9UPN3</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>32097630[PMID]</SourceOfValidation>
+          <Gene id="31544">
+            <Name lang="en">centrosomal protein 85 like</Name>
+            <Symbol>CEP85L</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000111860</Reference>
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+                <Reference>618865</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5SZL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>21638</Reference>
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+              <Locus id="88843">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="28732">
+      <OrphaCode>572333</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=572333</ExpertLink>
+      <Name lang="en">Blepharophimosis-ptosis-epicanthus inversus syndrome plus</Name>
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+        <Name lang="en">Malformation syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">forkhead box L2</Name>
+            <Symbol>FOXL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">BPES1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>FOXL2</Reference>
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+                <Reference>1092</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605597</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P58012</Reference>
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+              <ExternalReference id="143902">
+                <Source>Reactome</Source>
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+      <OrphaCode>572354</OrphaCode>
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+      <Name lang="en">Blepharophimosis-ptosis-epicanthus inversus syndrome type 1</Name>
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+          <SourceOfValidation>30029625[PMID]_31823134[PMID]</SourceOfValidation>
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+            <Symbol>FOXL2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>1092</Reference>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">GatA</Synonym>
+              <Synonym lang="en">glutamyl-tRNA(Gln) amidotransferase, subunit A</Synonym>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Galactose mutarotase deficiency</Name>
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+            <Symbol>GALM</Symbol>
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+                <Source>SwissProt</Source>
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+              <Synonym lang="en">breast cancer associated gene 1</Synonym>
+              <Synonym lang="en">hepatocellular carcinoma associated protein</Synonym>
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+            <Name lang="en">serine peptidase inhibitor Kazal type 1</Name>
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+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22580415[PMID]_19404200[PMID]</SourceOfValidation>
+          <Gene id="16859">
+            <Name lang="en">chymotrypsin C</Name>
+            <Symbol>CTRC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CLCR</Synonym>
+              <Synonym lang="en">ELA4</Synonym>
+              <Synonym lang="en">caldecrin</Synonym>
+              <Synonym lang="en">chymotrypsinogen C</Synonym>
+              <Synonym lang="en">elastase 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57862">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162438</Reference>
+              </ExternalReference>
+              <ExternalReference id="35249">
+                <Source>Genatlas</Source>
+                <Reference>CTRC</Reference>
+              </ExternalReference>
+              <ExternalReference id="35246">
+                <Source>HGNC</Source>
+                <Reference>2523</Reference>
+              </ExternalReference>
+              <ExternalReference id="83048">
+                <Source>IUPHAR</Source>
+                <Reference>2341</Reference>
+              </ExternalReference>
+              <ExternalReference id="35248">
+                <Source>OMIM</Source>
+                <Reference>601405</Reference>
+              </ExternalReference>
+              <ExternalReference id="97250">
+                <Source>Reactome</Source>
+                <Reference>Q99895</Reference>
+              </ExternalReference>
+              <ExternalReference id="35247">
+                <Source>SwissProt</Source>
+                <Reference>Q99895</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16747">
+                <GeneLocus>1p36.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14984">
+      <OrphaCode>103908</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=103908</ExpertLink>
+      <Name lang="en">Congenital sodium diarrhea</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25994218[PMID]</SourceOfValidation>
+          <Gene id="21598">
+            <Name lang="en">guanylate cyclase 2C</Name>
+            <Symbol>GUCY2C</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">STA receptor</Synonym>
+              <Synonym lang="en">STAR</Synonym>
+              <Synonym lang="en">heat stable enterotoxin receptor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83566">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070019</Reference>
+              </ExternalReference>
+              <ExternalReference id="74896">
+                <Source>Genatlas</Source>
+                <Reference>GUCY2C</Reference>
+              </ExternalReference>
+              <ExternalReference id="74894">
+                <Source>HGNC</Source>
+                <Reference>4688</Reference>
+              </ExternalReference>
+              <ExternalReference id="83567">
+                <Source>IUPHAR</Source>
+                <Reference>1750</Reference>
+              </ExternalReference>
+              <ExternalReference id="74895">
+                <Source>OMIM</Source>
+                <Reference>601330</Reference>
+              </ExternalReference>
+              <ExternalReference id="74897">
+                <Source>SwissProt</Source>
+                <Reference>P25092</Reference>
+              </ExternalReference>
+              <ExternalReference id="135066">
+                <Source>Reactome</Source>
+                <Reference>P25092</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>12p12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26358773[PMID]</SourceOfValidation>
+          <Gene id="23673">
+            <Name lang="en">solute carrier family 9 member A3</Name>
+            <Symbol>SLC9A3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="100262">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000066230</Reference>
+              </ExternalReference>
+              <ExternalReference id="100259">
+                <Source>Genatlas</Source>
+                <Reference>SLC9A3</Reference>
+              </ExternalReference>
+              <ExternalReference id="100257">
+                <Source>HGNC</Source>
+                <Reference>11073</Reference>
+              </ExternalReference>
+              <ExternalReference id="100263">
+                <Source>IUPHAR</Source>
+                <Reference>950</Reference>
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+              <ExternalReference id="100258">
+                <Source>OMIM</Source>
+                <Reference>182307</Reference>
+              </ExternalReference>
+              <ExternalReference id="100261">
+                <Source>Reactome</Source>
+                <Reference>P48764</Reference>
+              </ExternalReference>
+              <ExternalReference id="100260">
+                <Source>SwissProt</Source>
+                <Reference>P48764</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23177">
+                <GeneLocus>5p15.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14985">
+      <OrphaCode>103909</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=103909</ExpertLink>
+      <Name lang="en">Trehalase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17189">
+            <Name lang="en">trehalase</Name>
+            <Symbol>TREH</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">MGC129621</Synonym>
+              <Synonym lang="en">TRE</Synonym>
+              <Synonym lang="en">TREA</Synonym>
+              <Synonym lang="en">alpha,alpha-trehalase</Synonym>
+              <Synonym lang="en">alpha,alpha-trehalose glucohydrolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60046">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118094</Reference>
+              </ExternalReference>
+              <ExternalReference id="36225">
+                <Source>Genatlas</Source>
+                <Reference>TREH</Reference>
+              </ExternalReference>
+              <ExternalReference id="36224">
+                <Source>HGNC</Source>
+                <Reference>12266</Reference>
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+              <ExternalReference id="36226">
+                <Source>OMIM</Source>
+                <Reference>275360</Reference>
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+              <ExternalReference id="60047">
+                <Source>Reactome</Source>
+                <Reference>O43280</Reference>
+              </ExternalReference>
+              <ExternalReference id="36227">
+                <Source>SwissProt</Source>
+                <Reference>O43280</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      <OrphaCode>102724</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=102724</ExpertLink>
+      <Name lang="en">Acute myeloid leukemia with t(8;21)(q22;q22) translocation</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="5">
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+            <Name lang="en">RUNX family transcription factor 1</Name>
+            <Symbol>RUNX1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AMLCR1</Synonym>
+              <Synonym lang="en">PEBP2A2</Synonym>
+              <Synonym lang="en">aml1 oncogene</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58693">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159216</Reference>
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+              <ExternalReference id="25547">
+                <Source>Genatlas</Source>
+                <Reference>RUNX1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>10471</Reference>
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+                <Source>OMIM</Source>
+                <Reference>151385</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q01196</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q01196</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23783394[PMID]</SourceOfValidation>
+          <Gene id="16784">
+            <Name lang="en">fms related receptor tyrosine kinase 3</Name>
+            <Symbol>FLT3</Symbol>
+            <SynonymList count="3">
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
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+        <DisorderGeneAssociation>
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+          <Gene id="19235">
+            <Name lang="en">CCAAT enhancer binding protein alpha</Name>
+            <Symbol>CEBPA</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
+                <Reference>P49715</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P49715</Reference>
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+                <Source>Ensembl</Source>
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+            <Name lang="en">Biomarker tested in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>19357394[PMID]</SourceOfValidation>
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+            <Name lang="en">RUNX1 partner transcriptional co-repressor 1</Name>
+            <Symbol>RUNX1T1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CDR</Synonym>
+              <Synonym lang="en">ETO</Synonym>
+              <Synonym lang="en">MTG8</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143866">
+                <Source>Reactome</Source>
+                <Reference>Q06455</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q06455</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000079102</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RUNX1T1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1535</Reference>
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+            <Name lang="en">Part of a fusion gene in</Name>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">KIT proto-oncogene, receptor tyrosine kinase</Name>
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+              <Synonym lang="en">CD117</Synonym>
+              <Synonym lang="en">SCFR</Synonym>
+              <Synonym lang="en">mast/stem cell growth factor receptor Kit</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000157404</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KIT</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1805</Reference>
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+                <Reference>164920</Reference>
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+              <ExternalReference id="58305">
+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P10721</Reference>
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+            <Name lang="en">Biomarker tested in</Name>
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+      <Name lang="en">Familial isolated congenital asplenia</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Symbol>NKX2-5</Symbol>
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+              <Synonym lang="en">NKX2.5</Synonym>
+              <Synonym lang="en">NKX4-1</Synonym>
+              <Synonym lang="en">tinman (Drosophila) homolog</Synonym>
+              <Synonym lang="en">tinman paralog (Drosophila)</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="97242">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183072</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2488</Reference>
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+            <Name lang="en">ribosomal protein SA</Name>
+            <Symbol>RPSA</Symbol>
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+                <Source>OMIM</Source>
+                <Reference>150370</Reference>
+              </ExternalReference>
+              <ExternalReference id="83894">
+                <Source>Reactome</Source>
+                <Reference>P08865</Reference>
+              </ExternalReference>
+              <ExternalReference id="80128">
+                <Source>SwissProt</Source>
+                <Reference>P08865</Reference>
+              </ExternalReference>
+              <ExternalReference id="83895">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168028</Reference>
+              </ExternalReference>
+              <ExternalReference id="80127">
+                <Source>Genatlas</Source>
+                <Reference>RPSA</Reference>
+              </ExternalReference>
+              <ExternalReference id="80125">
+                <Source>HGNC</Source>
+                <Reference>6502</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21325">
+                <GeneLocus>3p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14826">
+      <OrphaCode>101150</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101150</ExpertLink>
+      <Name lang="en">Autosomal recessive dopa-responsive dystonia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15615">
+            <Name lang="en">tyrosine hydroxylase</Name>
+            <Symbol>TH</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DYT5b</Synonym>
+              <Synonym lang="en">tyrosine 3-monooxygenase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="27376">
+                <Source>OMIM</Source>
+                <Reference>191290</Reference>
+              </ExternalReference>
+              <ExternalReference id="60037">
+                <Source>Reactome</Source>
+                <Reference>P07101</Reference>
+              </ExternalReference>
+              <ExternalReference id="32586">
+                <Source>SwissProt</Source>
+                <Reference>P07101</Reference>
+              </ExternalReference>
+              <ExternalReference id="60036">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180176</Reference>
+              </ExternalReference>
+              <ExternalReference id="27379">
+                <Source>Genatlas</Source>
+                <Reference>TH</Reference>
+              </ExternalReference>
+              <ExternalReference id="27377">
+                <Source>HGNC</Source>
+                <Reference>11782</Reference>
+              </ExternalReference>
+              <ExternalReference id="87971">
+                <Source>IUPHAR</Source>
+                <Reference>1243</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7743">
+                <GeneLocus>11p15.5</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33539324[PMID]</SourceOfValidation>
+          <Gene id="30110">
+            <Name lang="en">TSPO associated protein 1</Name>
+            <Symbol>TSPOAP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0612</Synonym>
+              <Synonym lang="en">PRAX-1</Synonym>
+              <Synonym lang="en">RIM-BP1</Synonym>
+              <Synonym lang="en">RIMBP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="201335">
+                <Source>SwissProt</Source>
+                <Reference>O95153</Reference>
+              </ExternalReference>
+              <ExternalReference id="189674">
+                <Source>HGNC</Source>
+                <Reference>16831</Reference>
+              </ExternalReference>
+              <ExternalReference id="192731">
+                <Source>OMIM</Source>
+                <Reference>610764</Reference>
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+              <ExternalReference id="192730">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000005379</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="81645">
+                <GeneLocus>17q22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14822">
+      <OrphaCode>101111</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101111</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 25</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18725">
+            <Name lang="en">spinocerebellar ataxia 25</Name>
+            <Symbol>SCA25</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="43275">
+                <Source>HGNC</Source>
+                <Reference>20684</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10859">
+                <GeneLocus>2p21-p15</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35411967[PMID]</SourceOfValidation>
+          <Gene id="21588">
+            <Name lang="en">polyribonucleotide nucleotidyltransferase 1</Name>
+            <Symbol>PNPT1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">3'-5' RNA exonuclease</Synonym>
+              <Synonym lang="en">OLD35</Synonym>
+              <Synonym lang="en">PNPase</Synonym>
+              <Synonym lang="en">Polynucleotide phosphorylase</Synonym>
+              <Synonym lang="en">old-35</Synonym>
+              <Synonym lang="en">polynucleotide phosphorylase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83551">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000138035</Reference>
+              </ExternalReference>
+              <ExternalReference id="74796">
+                <Source>Genatlas</Source>
+                <Reference>PNPT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="74794">
+                <Source>HGNC</Source>
+                <Reference>23166</Reference>
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+              <ExternalReference id="74795">
+                <Source>OMIM</Source>
+                <Reference>610316</Reference>
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+              <ExternalReference id="74797">
+                <Source>SwissProt</Source>
+                <Reference>Q8TCS8</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>2p16.1</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14823">
+      <OrphaCode>101112</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101112</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 26</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23001565[PMID]_20301317[PMID]</SourceOfValidation>
+          <Gene id="22496">
+            <Name lang="en">eukaryotic translation elongation factor 2</Name>
+            <Symbol>EEF2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">EEF-2</Synonym>
+              <Synonym lang="en">Polypeptidyl-tRNA translocase</Synonym>
+              <Synonym lang="en">polypeptidyl-tRNA translocase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="84073">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000167658</Reference>
+              </ExternalReference>
+              <ExternalReference id="82439">
+                <Source>Genatlas</Source>
+                <Reference>EEF2</Reference>
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+              <ExternalReference id="82437">
+                <Source>HGNC</Source>
+                <Reference>3214</Reference>
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+              <ExternalReference id="88005">
+                <Source>IUPHAR</Source>
+                <Reference>2756</Reference>
+              </ExternalReference>
+              <ExternalReference id="82438">
+                <Source>OMIM</Source>
+                <Reference>130610</Reference>
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+              <ExternalReference id="84072">
+                <Source>Reactome</Source>
+                <Reference>P13639</Reference>
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+              <ExternalReference id="82440">
+                <Source>SwissProt</Source>
+                <Reference>P13639</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14820">
+      <OrphaCode>101109</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101109</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 28</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="18723">
+            <Name lang="en">AFG3 like matrix AAA peptidase subunit 2</Name>
+            <Symbol>AFG3L2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">SPAX5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="143232">
+                <Source>Reactome</Source>
+                <Reference>Q9Y4W6</Reference>
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+              <ExternalReference id="60035">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000141385</Reference>
+              </ExternalReference>
+              <ExternalReference id="43264">
+                <Source>Genatlas</Source>
+                <Reference>AFG3L2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>315</Reference>
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+              <ExternalReference id="43265">
+                <Source>OMIM</Source>
+                <Reference>604581</Reference>
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+              <ExternalReference id="43266">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y4W6</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14821">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101110</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 20</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <Gene id="18724">
+            <Name lang="en">spinocerebellar ataxia 20</Name>
+            <Symbol>SCA20</Symbol>
+            <SynonymList count="0">
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+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
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+              <ExternalReference id="43272">
+                <Source>HGNC</Source>
+                <Reference>17204</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14819">
+      <OrphaCode>101108</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101108</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 23</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="18722">
+            <Name lang="en">prodynorphin</Name>
+            <Symbol>PDYN</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">ADCA</Synonym>
+              <Synonym lang="en">PENKB</Synonym>
+              <Synonym lang="en">beta-neoendorphin</Synonym>
+              <Synonym lang="en">dynorphin</Synonym>
+              <Synonym lang="en">leu-enkephalin</Synonym>
+              <Synonym lang="en">leumorphin</Synonym>
+              <Synonym lang="en">neoendorphin-dynorphin-enkephalin prepropeptide</Synonym>
+              <Synonym lang="en">preproenkephalin B</Synonym>
+              <Synonym lang="en">rimorphin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Genatlas</Source>
+                <Reference>PDYN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8820</Reference>
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+              <ExternalReference id="49882">
+                <Source>OMIM</Source>
+                <Reference>131340</Reference>
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+              <ExternalReference id="60034">
+                <Source>Reactome</Source>
+                <Reference>P01213</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P01213</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101327</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="14796">
+      <OrphaCode>101085</OrphaCode>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 1F</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16537">
+            <Name lang="en">neurofilament light chain</Name>
+            <Symbol>NEFL</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMT1F</Synonym>
+              <Synonym lang="en">CMT2E</Synonym>
+              <Synonym lang="en">NF68</Synonym>
+              <Synonym lang="en">NFL</Synonym>
+              <Synonym lang="en">PPP1R110</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 110</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="95168">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277586</Reference>
+              </ExternalReference>
+              <ExternalReference id="31764">
+                <Source>Genatlas</Source>
+                <Reference>NEFL</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7739</Reference>
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+                <Source>OMIM</Source>
+                <Reference>162280</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P07196</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P07196</Reference>
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+    <Disorder id="14799">
+      <OrphaCode>101088</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101088</ExpertLink>
+      <Name lang="en">X-linked hyper-IgM syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <Gene id="15415">
+            <Name lang="en">CD40 ligand</Name>
+            <Symbol>CD40LG</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">CD154</Synonym>
+              <Synonym lang="en">CD40 antigen ligand</Synonym>
+              <Synonym lang="en">CD40L</Synonym>
+              <Synonym lang="en">T-B cell-activating molecule</Synonym>
+              <Synonym lang="en">TNF-related activation protein</Synonym>
+              <Synonym lang="en">TRAP</Synonym>
+              <Synonym lang="en">gp39</Synonym>
+              <Synonym lang="en">hCD40L</Synonym>
+              <Synonym lang="en">hyper-IgM syndrome</Synonym>
+              <Synonym lang="en">tumor necrosis factor (ligand) superfamily member 5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60025">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102245</Reference>
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+              <ExternalReference id="36464">
+                <Source>Genatlas</Source>
+                <Reference>CD40LG</Reference>
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+              <ExternalReference id="26409">
+                <Source>HGNC</Source>
+                <Reference>11935</Reference>
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+              <ExternalReference id="26408">
+                <Source>OMIM</Source>
+                <Reference>300386</Reference>
+              </ExternalReference>
+              <ExternalReference id="60026">
+                <Source>Reactome</Source>
+                <Reference>P29965</Reference>
+              </ExternalReference>
+              <ExternalReference id="32383">
+                <Source>SwissProt</Source>
+                <Reference>P29965</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20735">
+                <GeneLocus>Xq26.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14792">
+      <OrphaCode>101081</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101081</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 1A</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301384[PMID]</SourceOfValidation>
+          <Gene id="15114">
+            <Name lang="en">peripheral myelin protein 22</Name>
+            <Symbol>PMP22</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">GAS3</Synonym>
+              <Synonym lang="en">HMSNIA</Synonym>
+              <Synonym lang="en">HNPP</Synonym>
+              <Synonym lang="en">Sp110</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143117">
+                <Source>Reactome</Source>
+                <Reference>Q01453</Reference>
+              </ExternalReference>
+              <ExternalReference id="56949">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109099</Reference>
+              </ExternalReference>
+              <ExternalReference id="24974">
+                <Source>Genatlas</Source>
+                <Reference>PMP22</Reference>
+              </ExternalReference>
+              <ExternalReference id="24976">
+                <Source>HGNC</Source>
+                <Reference>9118</Reference>
+              </ExternalReference>
+              <ExternalReference id="24975">
+                <Source>OMIM</Source>
+                <Reference>601097</Reference>
+              </ExternalReference>
+              <ExternalReference id="32805">
+                <Source>SwissProt</Source>
+                <Reference>Q01453</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>17p12</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14793">
+      <OrphaCode>101082</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101082</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 1B</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301384[PMID]</SourceOfValidation>
+          <Gene id="16463">
+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2I</Synonym>
+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
+              <Synonym lang="en">P0</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="58324">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158887</Reference>
+              </ExternalReference>
+              <ExternalReference id="31418">
+                <Source>Genatlas</Source>
+                <Reference>MPZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="31420">
+                <Source>HGNC</Source>
+                <Reference>7225</Reference>
+              </ExternalReference>
+              <ExternalReference id="31419">
+                <Source>OMIM</Source>
+                <Reference>159440</Reference>
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+              <ExternalReference id="33528">
+                <Source>SwissProt</Source>
+                <Reference>P25189</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22399">
+                <GeneLocus>1q23.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14794">
+      <OrphaCode>101083</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101083</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 1C</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301384[PMID]</SourceOfValidation>
+          <Gene id="16361">
+            <Name lang="en">lipopolysaccharide induced TNF factor</Name>
+            <Symbol>LITAF</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ38636</Synonym>
+              <Synonym lang="en">PIG7</Synonym>
+              <Synonym lang="en">SIMPLE</Synonym>
+              <Synonym lang="en">TP53I7</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143214">
+                <Source>Reactome</Source>
+                <Reference>Q99732</Reference>
+              </ExternalReference>
+              <ExternalReference id="60024">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000189067</Reference>
+              </ExternalReference>
+              <ExternalReference id="30951">
+                <Source>Genatlas</Source>
+                <Reference>LITAF</Reference>
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+              <ExternalReference id="30949">
+                <Source>HGNC</Source>
+                <Reference>16841</Reference>
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+              <ExternalReference id="30948">
+                <Source>OMIM</Source>
+                <Reference>603795</Reference>
+              </ExternalReference>
+              <ExternalReference id="33426">
+                <Source>SwissProt</Source>
+                <Reference>Q99732</Reference>
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+                <GeneLocus>16p13.13</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14795">
+      <OrphaCode>101084</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101084</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 1D</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301384[PMID]</SourceOfValidation>
+          <Gene id="15918">
+            <Name lang="en">early growth response 2</Name>
+            <Symbol>EGR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Krox-20 homolog, Drosophila</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122877</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>EGR2</Reference>
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+              <ExternalReference id="28804">
+                <Source>HGNC</Source>
+                <Reference>3239</Reference>
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+              <ExternalReference id="28803">
+                <Source>OMIM</Source>
+                <Reference>129010</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P11161</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11161</Reference>
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+                <GeneLocus>10q21.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14789">
+      <OrphaCode>101078</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101078</ExpertLink>
+      <Name lang="en">X-linked Charcot-Marie-Tooth disease type 4</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23217327[PMID]</SourceOfValidation>
+          <Gene id="19491">
+            <Name lang="en">apoptosis inducing factor mitochondria associated 1</Name>
+            <Symbol>AIFM1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">AIF</Synonym>
+              <Synonym lang="en">CMTX4</Synonym>
+              <Synonym lang="en">DFNX5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>SwissProt</Source>
+                <Reference>O95831</Reference>
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+              <ExternalReference id="60414">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156709</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>AIFM1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>8768</Reference>
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+                <Source>Reactome</Source>
+                <Reference>O95831</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14786">
+      <OrphaCode>101075</OrphaCode>
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+      <Name lang="en">X-linked Charcot-Marie-Tooth disease type 1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301548[PMID]</SourceOfValidation>
+          <Gene id="16129">
+            <Name lang="en">gap junction protein beta 1</Name>
+            <Symbol>GJB1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CX32</Synonym>
+              <Synonym lang="en">Charcot-Marie-Tooth neuropathy, X-linked</Synonym>
+              <Synonym lang="en">connexin 32</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="193589">
+                <Source>IUPHAR</Source>
+                <Reference>723</Reference>
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+              <ExternalReference id="60022">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169562</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GJB1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4283</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P08034</Reference>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 2H</Name>
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+            <Name lang="en">ganglioside induced differentiation associated protein 1</Name>
+            <Symbol>GDAP1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104381</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>GDAP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15968</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606598</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TB36</Reference>
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+                <GeneLocus>8q21.11</GeneLocus>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 2B2</Name>
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+                <Reference>605610</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>Q96T60</Reference>
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+      <OrphaCode>101097</OrphaCode>
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+      <Name lang="en">Autosomal recessive Charcot-Marie-Tooth disease with hoarseness</Name>
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+        <Name lang="en">Disorder</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104381</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>GDAP1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>15968</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606598</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8TB36</Reference>
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+                <GeneLocus>8q21.11</GeneLocus>
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+    <Disorder id="14801">
+      <OrphaCode>101090</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101090</ExpertLink>
+      <Name lang="en">Hyper-IgM syndrome type 3</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11675497[PMID]</SourceOfValidation>
+          <Gene id="15414">
+            <Name lang="en">CD40 molecule</Name>
+            <Symbol>CD40</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Bp50</Synonym>
+              <Synonym lang="en">p50</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="193667">
+                <Source>IUPHAR</Source>
+                <Reference>1874</Reference>
+              </ExternalReference>
+              <ExternalReference id="26405">
+                <Source>HGNC</Source>
+                <Reference>11919</Reference>
+              </ExternalReference>
+              <ExternalReference id="26404">
+                <Source>OMIM</Source>
+                <Reference>109535</Reference>
+              </ExternalReference>
+              <ExternalReference id="60029">
+                <Source>Reactome</Source>
+                <Reference>P25942</Reference>
+              </ExternalReference>
+              <ExternalReference id="32382">
+                <Source>SwissProt</Source>
+                <Reference>P25942</Reference>
+              </ExternalReference>
+              <ExternalReference id="60028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101017</Reference>
+              </ExternalReference>
+              <ExternalReference id="37357">
+                <Source>Genatlas</Source>
+                <Reference>CD40</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66743">
+                <GeneLocus>20q13.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14800">
+      <OrphaCode>101089</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101089</ExpertLink>
+      <Name lang="en">Hyper-IgM syndrome type 2</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11007475[PMID]</SourceOfValidation>
+          <Gene id="15479">
+            <Name lang="en">activation induced cytidine deaminase</Name>
+            <Symbol>AICDA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">AID</Synonym>
+              <Synonym lang="en">ARP2</Synonym>
+              <Synonym lang="en">CDA2</Synonym>
+              <Synonym lang="en">HIGM2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143795">
+                <Source>Reactome</Source>
+                <Reference>Q9GZX7</Reference>
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+              <ExternalReference id="60027">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111732</Reference>
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+              <ExternalReference id="26727">
+                <Source>Genatlas</Source>
+                <Reference>AICDA</Reference>
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+              <ExternalReference id="35162">
+                <Source>HGNC</Source>
+                <Reference>13203</Reference>
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+              <ExternalReference id="26724">
+                <Source>OMIM</Source>
+                <Reference>605257</Reference>
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+              <ExternalReference id="32450">
+                <Source>SwissProt</Source>
+                <Reference>Q9GZX7</Reference>
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+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14803">
+      <OrphaCode>101092</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101092</ExpertLink>
+      <Name lang="en">Hyper-IgM syndrome type 5</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12958596[PMID]_15967827[PMID]</SourceOfValidation>
+          <Gene id="15696">
+            <Name lang="en">uracil DNA glycosylase</Name>
+            <Symbol>UNG</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HIGM4</Synonym>
+              <Synonym lang="en">UDG</Synonym>
+              <Synonym lang="en">UNG1</Synonym>
+              <Synonym lang="en">UNG2</Synonym>
+              <Synonym lang="en">uracil-DNA glycosylase 1, uracil-DNA glycosylase 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="60030">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000076248</Reference>
+              </ExternalReference>
+              <ExternalReference id="35161">
+                <Source>Genatlas</Source>
+                <Reference>UNG</Reference>
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+              <ExternalReference id="27760">
+                <Source>HGNC</Source>
+                <Reference>12572</Reference>
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+              <ExternalReference id="27759">
+                <Source>OMIM</Source>
+                <Reference>191525</Reference>
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+              <ExternalReference id="32668">
+                <Source>SwissProt</Source>
+                <Reference>P13051</Reference>
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+              <ExternalReference id="143875">
+                <Source>Reactome</Source>
+                <Reference>P13051</Reference>
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+                <GeneLocus>12q24.11</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14760">
+      <OrphaCode>101049</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101049</ExpertLink>
+      <Name lang="en">Familial hypocalciuric hypercalcemia type 2</Name>
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+        <Name lang="en">Etiological subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>23802516[PMID]</SourceOfValidation>
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+            <Name lang="en">G protein subunit alpha 11</Name>
+            <Symbol>GNA11</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FBH</Synonym>
+              <Synonym lang="en">FBH2</Synonym>
+              <Synonym lang="en">FHH2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83938">
+                <Source>Reactome</Source>
+                <Reference>P29992</Reference>
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+              <ExternalReference id="80665">
+                <Source>SwissProt</Source>
+                <Reference>P29992</Reference>
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+              <ExternalReference id="83939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088256</Reference>
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+              <ExternalReference id="80664">
+                <Source>Genatlas</Source>
+                <Reference>GNA11</Reference>
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+              <ExternalReference id="80662">
+                <Source>HGNC</Source>
+                <Reference>4379</Reference>
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+              <ExternalReference id="80663">
+                <Source>OMIM</Source>
+                <Reference>139313</Reference>
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+      <OrphaCode>101050</OrphaCode>
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+      <Name lang="en">Familial hypocalciuric hypercalcemia type 3</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+            <Symbol>AP2S1</Symbol>
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+              <Synonym lang="en">FBHOk</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000042753</Reference>
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+                <Source>Genatlas</Source>
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+                <Reference>565</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P53680</Reference>
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+      <Name lang="en">Familial hypofibrinogenemia</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+                <Reference>ENSG00000171560</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3661</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+              <Synonym lang="en">KIAA0645</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="83824">
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+                <Reference>ENSG00000100150</Reference>
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+              <ExternalReference id="79374">
+                <Source>Genatlas</Source>
+                <Reference>DEPDC5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>18423</Reference>
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+              <ExternalReference id="79373">
+                <Source>OMIM</Source>
+                <Reference>614191</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O75140</Reference>
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+            <LocusList count="1">
+              <Locus id="23667">
+                <GeneLocus>22q12.2-q12.3</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14779">
+      <OrphaCode>101068</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101068</ExpertLink>
+      <Name lang="en">Congenital stromal corneal dystrophy</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15671264[PMID]_20301741[PMID]</SourceOfValidation>
+          <Gene id="15853">
+            <Name lang="en">decorin</Name>
+            <Symbol>DCN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DSPG2</Synonym>
+              <Synonym lang="en">SLRR1B</Synonym>
+              <Synonym lang="en">decorin proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000011465</Reference>
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+              <ExternalReference id="37422">
+                <Source>Genatlas</Source>
+                <Reference>DCN</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2705</Reference>
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+                <Source>OMIM</Source>
+                <Reference>125255</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P07585</Reference>
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+              <ExternalReference id="32864">
+                <Source>SwissProt</Source>
+                <Reference>P07585</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>101070</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101070</ExpertLink>
+      <Name lang="en">Bilateral frontoparietal polymicrogyria</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <SourceOfValidation>32959437[PMID]</SourceOfValidation>
+          <Gene id="15166">
+            <Name lang="en">phosphatase and tensin homolog</Name>
+            <Symbol>PTEN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">MMAC1</Synonym>
+              <Synonym lang="en">PTEN1</Synonym>
+              <Synonym lang="en">TEP1</Synonym>
+              <Synonym lang="en">mutated in multiple advanced cancers 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>HGNC</Source>
+                <Reference>9588</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P60484</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P60484</Reference>
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+              <ExternalReference id="57050">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000171862</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21349848[PMID]</SourceOfValidation>
+          <Gene id="16164">
+            <Name lang="en">adhesion G protein-coupled receptor G1</Name>
+            <Symbol>ADGRG1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TM7LN4</Synonym>
+              <Synonym lang="en">TM7XN1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000205336</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y653</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Situs inversus totalis</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30471718[PMID]</SourceOfValidation>
+          <Gene id="28024">
+            <Name lang="en">dynein axonemal heavy chain 9</Name>
+            <Symbol>DNAH9</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DNAL1</Synonym>
+              <Synonym lang="en">DYH9</Synonym>
+              <Synonym lang="en">Dnahc9</Synonym>
+              <Synonym lang="en">HL-20</Synonym>
+              <Synonym lang="en">HL20</Synonym>
+              <Synonym lang="en">KIAA0357</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="162832">
+                <Source>HGNC</Source>
+                <Reference>2953</Reference>
+              </ExternalReference>
+              <ExternalReference id="162833">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007174</Reference>
+              </ExternalReference>
+              <ExternalReference id="162834">
+                <Source>SwissProt</Source>
+                <Reference>Q9NYC9</Reference>
+              </ExternalReference>
+              <ExternalReference id="162835">
+                <Source>OMIM</Source>
+                <Reference>603330</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51425">
+                <GeneLocus>17p12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14734">
+      <OrphaCode>101023</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101023</ExpertLink>
+      <Name lang="en">Cleft hard palate</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27018472[PMID]_27018475[PMID]</SourceOfValidation>
+          <Gene id="22597">
+            <Name lang="en">grainyhead like transcription factor 3</Name>
+            <Symbol>GRHL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SOM</Synonym>
+              <Synonym lang="en">sister-of-mammalian grainyhead</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143939">
+                <Source>Reactome</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+              <ExternalReference id="85387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158055</Reference>
+              </ExternalReference>
+              <ExternalReference id="85232">
+                <Source>Genatlas</Source>
+                <Reference>GRHL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="85230">
+                <Source>HGNC</Source>
+                <Reference>25839</Reference>
+              </ExternalReference>
+              <ExternalReference id="85231">
+                <Source>OMIM</Source>
+                <Reference>608317</Reference>
+              </ExternalReference>
+              <ExternalReference id="85233">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39345">
+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17468296[PMID]</SourceOfValidation>
+          <Gene id="25118">
+            <Name lang="en">ubiquitin B</Name>
+            <Symbol>UBB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ25987</Synonym>
+              <Synonym lang="en">MGC8385</Synonym>
+              <Synonym lang="en">polyubiquitin B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135083">
+                <Source>OMIM</Source>
+                <Reference>191339</Reference>
+              </ExternalReference>
+              <ExternalReference id="135087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170315</Reference>
+              </ExternalReference>
+              <ExternalReference id="135082">
+                <Source>HGNC</Source>
+                <Reference>12463</Reference>
+              </ExternalReference>
+              <ExternalReference id="135084">
+                <Source>Genatlas</Source>
+                <Reference>UBB</Reference>
+              </ExternalReference>
+              <ExternalReference id="135085">
+                <Source>SwissProt</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
+              <ExternalReference id="135086">
+                <Source>Reactome</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36005">
+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14720">
+      <OrphaCode>101009</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101009</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 29</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16130112[PMID]</SourceOfValidation>
+          <Gene id="18127">
+            <Name lang="en">spastic paraplegia 29 (autosomal dominant)</Name>
+            <Symbol>SPG29</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41251">
+                <Source>HGNC</Source>
+                <Reference>30161</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10609">
+                <GeneLocus>1p31.1-p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14721">
+      <OrphaCode>101010</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101010</ExpertLink>
+      <Name lang="en">Autosomal spastic paraplegia type 30</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22258533[PMID]_26410750[PMID]</SourceOfValidation>
+          <Gene id="20403">
+            <Name lang="en">kinesin family member 1A</Name>
+            <Symbol>KIF1A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">UNC104</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="100333">
+                <Source>Reactome</Source>
+                <Reference>Q12756</Reference>
+              </ExternalReference>
+              <ExternalReference id="57990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000130294</Reference>
+              </ExternalReference>
+              <ExternalReference id="53962">
+                <Source>Genatlas</Source>
+                <Reference>KIF1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="53960">
+                <Source>HGNC</Source>
+                <Reference>888</Reference>
+              </ExternalReference>
+              <ExternalReference id="53961">
+                <Source>OMIM</Source>
+                <Reference>601255</Reference>
+              </ExternalReference>
+              <ExternalReference id="53963">
+                <Source>SwissProt</Source>
+                <Reference>Q12756</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25833">
+                <GeneLocus>2q37.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14722">
+      <OrphaCode>101011</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101011</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 31</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22703882[PMID]</SourceOfValidation>
+          <Gene id="15197">
+            <Name lang="en">receptor accessory protein 1</Name>
+            <Symbol>REEP1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">FLJ13110</Synonym>
+              <Synonym lang="en">SPG31</Synonym>
+              <Synonym lang="en">Yip2a</Synonym>
+              <Synonym lang="en">receptor expression enhancing protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60002">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000068615</Reference>
+              </ExternalReference>
+              <ExternalReference id="25370">
+                <Source>Genatlas</Source>
+                <Reference>REEP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25372">
+                <Source>HGNC</Source>
+                <Reference>25786</Reference>
+              </ExternalReference>
+              <ExternalReference id="25371">
+                <Source>OMIM</Source>
+                <Reference>609139</Reference>
+              </ExternalReference>
+              <ExternalReference id="33721">
+                <Source>SwissProt</Source>
+                <Reference>Q9H902</Reference>
+              </ExternalReference>
+              <ExternalReference id="135045">
+                <Source>Reactome</Source>
+                <Reference>Q9H902</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="35921">
+                <GeneLocus>2p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14727">
+      <OrphaCode>101016</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101016</ExpertLink>
+      <Name lang="en">Romano-Ward syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="19">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25922419_27807201_27041150[PMID]</SourceOfValidation>
+          <Gene id="21190">
+            <Name lang="en">triadin</Name>
+            <Symbol>TRDN</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">TRISK</Synonym>
+              <Synonym lang="en">triadin in skeletal muscle</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83430">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186439</Reference>
+              </ExternalReference>
+              <ExternalReference id="69846">
+                <Source>Genatlas</Source>
+                <Reference>TRDN</Reference>
+              </ExternalReference>
+              <ExternalReference id="69844">
+                <Source>HGNC</Source>
+                <Reference>12261</Reference>
+              </ExternalReference>
+              <ExternalReference id="69845">
+                <Source>OMIM</Source>
+                <Reference>603283</Reference>
+              </ExternalReference>
+              <ExternalReference id="83429">
+                <Source>Reactome</Source>
+                <Reference>Q13061</Reference>
+              </ExternalReference>
+              <ExternalReference id="69847">
+                <Source>SwissProt</Source>
+                <Reference>Q13061</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12029">
+                <GeneLocus>6q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="16290">
+            <Name lang="en">potassium voltage-gated channel subfamily H member 2</Name>
+            <Symbol>KCNH2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HERG</Synonym>
+              <Synonym lang="en">Kv11.1</Synonym>
+              <Synonym lang="en">erg1</Synonym>
+              <Synonym lang="en">human ether-a-go-go-related gene</Synonym>
+              <Synonym lang="en">long QT syndrome type 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59101">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000055118</Reference>
+              </ExternalReference>
+              <ExternalReference id="30615">
+                <Source>Genatlas</Source>
+                <Reference>KCNH2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30613">
+                <Source>HGNC</Source>
+                <Reference>6251</Reference>
+              </ExternalReference>
+              <ExternalReference id="82965">
+                <Source>IUPHAR</Source>
+                <Reference>572</Reference>
+              </ExternalReference>
+              <ExternalReference id="30612">
+                <Source>OMIM</Source>
+                <Reference>152427</Reference>
+              </ExternalReference>
+              <ExternalReference id="59102">
+                <Source>Reactome</Source>
+                <Reference>Q12809</Reference>
+              </ExternalReference>
+              <ExternalReference id="33355">
+                <Source>SwissProt</Source>
+                <Reference>Q12809</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8997">
+                <GeneLocus>7q36.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="16295">
+            <Name lang="en">potassium voltage-gated channel subfamily Q member 1</Name>
+            <Symbol>KCNQ1</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">JLNS1</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 1</Synonym>
+              <Synonym lang="en">KCNA8</Synonym>
+              <Synonym lang="en">KVLQT1</Synonym>
+              <Synonym lang="en">Kv7.1</Synonym>
+              <Synonym lang="en">LQT1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="58838">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000053918</Reference>
+              </ExternalReference>
+              <ExternalReference id="30637">
+                <Source>Genatlas</Source>
+                <Reference>KCNQ1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30639">
+                <Source>HGNC</Source>
+                <Reference>6294</Reference>
+              </ExternalReference>
+              <ExternalReference id="82970">
+                <Source>IUPHAR</Source>
+                <Reference>560</Reference>
+              </ExternalReference>
+              <ExternalReference id="30638">
+                <Source>OMIM</Source>
+                <Reference>607542</Reference>
+              </ExternalReference>
+              <ExternalReference id="58839">
+                <Source>Reactome</Source>
+                <Reference>P51787</Reference>
+              </ExternalReference>
+              <ExternalReference id="33360">
+                <Source>SwissProt</Source>
+                <Reference>P51787</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="24017">
+                <GeneLocus>11p15.5-p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="15403">
+            <Name lang="en">caveolin 3</Name>
+            <Symbol>CAV3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">LGMD1C</Synonym>
+              <Synonym lang="en">LQT9</Synonym>
+              <Synonym lang="en">M-caveolin</Synonym>
+              <Synonym lang="en">VIP-21</Synonym>
+              <Synonym lang="en">VIP21</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57494">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182533</Reference>
+              </ExternalReference>
+              <ExternalReference id="26355">
+                <Source>Genatlas</Source>
+                <Reference>CAV3</Reference>
+              </ExternalReference>
+              <ExternalReference id="26353">
+                <Source>HGNC</Source>
+                <Reference>1529</Reference>
+              </ExternalReference>
+              <ExternalReference id="26352">
+                <Source>OMIM</Source>
+                <Reference>601253</Reference>
+              </ExternalReference>
+              <ExternalReference id="97180">
+                <Source>Reactome</Source>
+                <Reference>P56539</Reference>
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+              <ExternalReference id="32371">
+                <Source>SwissProt</Source>
+                <Reference>P56539</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22645">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12571597[PMID]_17242276[PMID]_19862833[PMID]</SourceOfValidation>
+          <Gene id="15931">
+            <Name lang="en">ankyrin 2</Name>
+            <Symbol>ANK2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CFAP87</Synonym>
+              <Synonym lang="en">FAP87</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60006">
+                <Source>Reactome</Source>
+                <Reference>Q01484</Reference>
+              </ExternalReference>
+              <ExternalReference id="32943">
+                <Source>SwissProt</Source>
+                <Reference>Q01484</Reference>
+              </ExternalReference>
+              <ExternalReference id="60005">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000145362</Reference>
+              </ExternalReference>
+              <ExternalReference id="28859">
+                <Source>Genatlas</Source>
+                <Reference>ANK2</Reference>
+              </ExternalReference>
+              <ExternalReference id="28861">
+                <Source>HGNC</Source>
+                <Reference>493</Reference>
+              </ExternalReference>
+              <ExternalReference id="28860">
+                <Source>OMIM</Source>
+                <Reference>106410</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8319">
+                <GeneLocus>4q25-q26</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="16286">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 1</Name>
+            <Symbol>KCNE1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">ISK</Synonym>
+              <Synonym lang="en">IsK</Synonym>
+              <Synonym lang="en">JLNS2</Synonym>
+              <Synonym lang="en">Jervell and Lange-Nielsen syndrome 2</Synonym>
+              <Synonym lang="en">LQT5</Synonym>
+              <Synonym lang="en">Long QT syndrome 5</Synonym>
+              <Synonym lang="en">minK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="98060">
+                <Source>Reactome</Source>
+                <Reference>P15382</Reference>
+              </ExternalReference>
+              <ExternalReference id="33351">
+                <Source>SwissProt</Source>
+                <Reference>P15382</Reference>
+              </ExternalReference>
+              <ExternalReference id="59633">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180509</Reference>
+              </ExternalReference>
+              <ExternalReference id="30596">
+                <Source>Genatlas</Source>
+                <Reference>KCNE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30594">
+                <Source>HGNC</Source>
+                <Reference>6240</Reference>
+              </ExternalReference>
+              <ExternalReference id="30593">
+                <Source>OMIM</Source>
+                <Reference>176261</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20861">
+                <GeneLocus>21q22.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="16288">
+            <Name lang="en">potassium voltage-gated channel subfamily E regulatory subunit 2</Name>
+            <Symbol>KCNE2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LQT6</Synonym>
+              <Synonym lang="en">MiRP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58836">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000159197</Reference>
+              </ExternalReference>
+              <ExternalReference id="30605">
+                <Source>Genatlas</Source>
+                <Reference>KCNE2</Reference>
+              </ExternalReference>
+              <ExternalReference id="30603">
+                <Source>HGNC</Source>
+                <Reference>6242</Reference>
+              </ExternalReference>
+              <ExternalReference id="30602">
+                <Source>OMIM</Source>
+                <Reference>603796</Reference>
+              </ExternalReference>
+              <ExternalReference id="98062">
+                <Source>Reactome</Source>
+                <Reference>Q9Y6J6</Reference>
+              </ExternalReference>
+              <ExternalReference id="33353">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y6J6</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26561">
+                <GeneLocus>21q22.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="15254">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 5</Name>
+            <Symbol>SCN5A</Symbol>
+            <SynonymList count="13">
+              <Synonym lang="en">CDCD2</Synonym>
+              <Synonym lang="en">CMPD2</Synonym>
+              <Synonym lang="en">HB1</Synonym>
+              <Synonym lang="en">HB2</Synonym>
+              <Synonym lang="en">HBBD</Synonym>
+              <Synonym lang="en">HH1</Synonym>
+              <Synonym lang="en">ICCD</Synonym>
+              <Synonym lang="en">IVF</Synonym>
+              <Synonym lang="en">LQT3</Synonym>
+              <Synonym lang="en">Nav1.5</Synonym>
+              <Synonym lang="en">PFHB1</Synonym>
+              <Synonym lang="en">SSS1</Synonym>
+              <Synonym lang="en">long QT syndrome 3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183873</Reference>
+              </ExternalReference>
+              <ExternalReference id="25635">
+                <Source>Genatlas</Source>
+                <Reference>SCN5A</Reference>
+              </ExternalReference>
+              <ExternalReference id="25637">
+                <Source>HGNC</Source>
+                <Reference>10593</Reference>
+              </ExternalReference>
+              <ExternalReference id="82772">
+                <Source>IUPHAR</Source>
+                <Reference>582</Reference>
+              </ExternalReference>
+              <ExternalReference id="25636">
+                <Source>OMIM</Source>
+                <Reference>600163</Reference>
+              </ExternalReference>
+              <ExternalReference id="57473">
+                <Source>Reactome</Source>
+                <Reference>Q14524</Reference>
+              </ExternalReference>
+              <ExternalReference id="33812">
+                <Source>SwissProt</Source>
+                <Reference>Q14524</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23605">
+                <GeneLocus>3p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="17440">
+            <Name lang="en">A-kinase anchoring protein 9</Name>
+            <Symbol>AKAP9</Symbol>
+            <SynonymList count="18">
+              <Synonym lang="en">A-kinase anchor protein, 350kDa</Synonym>
+              <Synonym lang="en">A-kinase anchoring protein 450</Synonym>
+              <Synonym lang="en">AKAP120-like protein</Synonym>
+              <Synonym lang="en">AKAP350</Synonym>
+              <Synonym lang="en">AKAP450</Synonym>
+              <Synonym lang="en">AKAP9-BRAF fusion protein</Synonym>
+              <Synonym lang="en">CG-NAP</Synonym>
+              <Synonym lang="en">HYPERION</Synonym>
+              <Synonym lang="en">KIAA0803</Synonym>
+              <Synonym lang="en">LQT11</Synonym>
+              <Synonym lang="en">MU-RMS-40.16A</Synonym>
+              <Synonym lang="en">PPP1R45</Synonym>
+              <Synonym lang="en">PRKA9</Synonym>
+              <Synonym lang="en">YOTIAO</Synonym>
+              <Synonym lang="en">centrosome- and golgi-localized protein kinase N-associated protein</Synonym>
+              <Synonym lang="en">protein kinase A anchoring protein 9</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 45</Synonym>
+              <Synonym lang="en">yotiao</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60003">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127914</Reference>
+              </ExternalReference>
+              <ExternalReference id="37964">
+                <Source>Genatlas</Source>
+                <Reference>AKAP9</Reference>
+              </ExternalReference>
+              <ExternalReference id="37967">
+                <Source>HGNC</Source>
+                <Reference>379</Reference>
+              </ExternalReference>
+              <ExternalReference id="37965">
+                <Source>OMIM</Source>
+                <Reference>604001</Reference>
+              </ExternalReference>
+              <ExternalReference id="82665">
+                <Source>Reactome</Source>
+                <Reference>Q99996</Reference>
+              </ExternalReference>
+              <ExternalReference id="82610">
+                <Source>SwissProt</Source>
+                <Reference>Q99996</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23423">
+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="17441">
+            <Name lang="en">sodium voltage-gated channel beta subunit 4</Name>
+            <Symbol>SCN4B</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LQT10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="37971">
+                <Source>OMIM</Source>
+                <Reference>608256</Reference>
+              </ExternalReference>
+              <ExternalReference id="97261">
+                <Source>Reactome</Source>
+                <Reference>Q8IWT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37970">
+                <Source>SwissProt</Source>
+                <Reference>Q8IWT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="60011">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177098</Reference>
+              </ExternalReference>
+              <ExternalReference id="37969">
+                <Source>Genatlas</Source>
+                <Reference>SCN4B</Reference>
+              </ExternalReference>
+              <ExternalReference id="37972">
+                <Source>HGNC</Source>
+                <Reference>10592</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="16769">
+                <GeneLocus>11q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="18895">
+            <Name lang="en">syntrophin alpha 1</Name>
+            <Symbol>SNTA1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LQT12</Synonym>
+              <Synonym lang="en">TACIP1</Synonym>
+              <Synonym lang="en">dystrophin-associated protein A1, 59kDa, acidic component</Synonym>
+              <Synonym lang="en">pro-TGF-alpha cytoplasmic domain-interacting protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143887">
+                <Source>Reactome</Source>
+                <Reference>Q13424</Reference>
+              </ExternalReference>
+              <ExternalReference id="60012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101400</Reference>
+              </ExternalReference>
+              <ExternalReference id="43730">
+                <Source>Genatlas</Source>
+                <Reference>SNTA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="43731">
+                <Source>HGNC</Source>
+                <Reference>11167</Reference>
+              </ExternalReference>
+              <ExternalReference id="43732">
+                <Source>OMIM</Source>
+                <Reference>601017</Reference>
+              </ExternalReference>
+              <ExternalReference id="43733">
+                <Source>SwissProt</Source>
+                <Reference>Q13424</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39239">
+                <GeneLocus>20q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301308[PMID]_24093767[PMID]</SourceOfValidation>
+          <Gene id="19239">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 5</Name>
+            <Symbol>KCNJ5</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CIR</Synonym>
+              <Synonym lang="en">G protein-activated inward rectifier potassium channel 4</Synonym>
+              <Synonym lang="en">GIRK4</Synonym>
+              <Synonym lang="en">KATP1</Synonym>
+              <Synonym lang="en">Kir3.4</Synonym>
+              <Synonym lang="en">LQT13</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="60009">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120457</Reference>
+              </ExternalReference>
+              <ExternalReference id="46758">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ5</Reference>
+              </ExternalReference>
+              <ExternalReference id="46757">
+                <Source>HGNC</Source>
+                <Reference>6266</Reference>
+              </ExternalReference>
+              <ExternalReference id="83179">
+                <Source>IUPHAR</Source>
+                <Reference>437</Reference>
+              </ExternalReference>
+              <ExternalReference id="46759">
+                <Source>OMIM</Source>
+                <Reference>600734</Reference>
+              </ExternalReference>
+              <ExternalReference id="60010">
+                <Source>Reactome</Source>
+                <Reference>P48544</Reference>
+              </ExternalReference>
+              <ExternalReference id="46760">
+                <Source>SwissProt</Source>
+                <Reference>P48544</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26567">
+                <GeneLocus>11q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19822806[PMID]_20538168[PMID]</SourceOfValidation>
+          <Gene id="20697">
+            <Name lang="en">nitric oxide synthase 1 adaptor protein</Name>
+            <Symbol>NOS1AP</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">C-terminal PDZ domain ligand of neuronal nitric oxide synthase</Synonym>
+              <Synonym lang="en">CAPON</Synonym>
+              <Synonym lang="en">KIAA0464</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60007">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198929</Reference>
+              </ExternalReference>
+              <ExternalReference id="55501">
+                <Source>Genatlas</Source>
+                <Reference>NOS1AP</Reference>
+              </ExternalReference>
+              <ExternalReference id="55499">
+                <Source>HGNC</Source>
+                <Reference>16859</Reference>
+              </ExternalReference>
+              <ExternalReference id="55500">
+                <Source>OMIM</Source>
+                <Reference>605551</Reference>
+              </ExternalReference>
+              <ExternalReference id="55502">
+                <Source>SwissProt</Source>
+                <Reference>O75052</Reference>
+              </ExternalReference>
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+              <Locus id="11735">
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+          </Gene>
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+            <Name lang="en">Modifying germline mutation in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23388215[PMID]_24076290[PMID]</SourceOfValidation>
+          <Gene id="21574">
+            <Name lang="en">calmodulin 1</Name>
+            <Symbol>CALM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAMI</Synonym>
+              <Synonym lang="en">DD132</Synonym>
+              <Synonym lang="en">PHKD</Synonym>
+              <Synonym lang="en">phosphorylase kinase subunit delta</Synonym>
+              <Synonym lang="en">prepro-calmodulin 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83545">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198668</Reference>
+              </ExternalReference>
+              <ExternalReference id="74744">
+                <Source>Genatlas</Source>
+                <Reference>CALM1</Reference>
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+              <ExternalReference id="74742">
+                <Source>HGNC</Source>
+                <Reference>1442</Reference>
+              </ExternalReference>
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+                <Source>OMIM</Source>
+                <Reference>114180</Reference>
+              </ExternalReference>
+              <ExternalReference id="83544">
+                <Source>Reactome</Source>
+                <Reference>P62158</Reference>
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+              <ExternalReference id="189393">
+                <Source>SwissProt</Source>
+                <Reference>P0DP23</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>14q32.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23388215[PMID]_24917665[PMID]</SourceOfValidation>
+          <Gene id="23132">
+            <Name lang="en">calmodulin 2</Name>
+            <Symbol>CALM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CAMII</Synonym>
+              <Synonym lang="en">PHKD</Synonym>
+              <Synonym lang="en">phosphorylase kinase subunit delta</Synonym>
+              <Synonym lang="en">prepro-calmodulin 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95242">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000143933</Reference>
+              </ExternalReference>
+              <ExternalReference id="95240">
+                <Source>Genatlas</Source>
+                <Reference>CALM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="95238">
+                <Source>HGNC</Source>
+                <Reference>1445</Reference>
+              </ExternalReference>
+              <ExternalReference id="95239">
+                <Source>OMIM</Source>
+                <Reference>114182</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P0DP24</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28407228[PMID]</SourceOfValidation>
+          <Gene id="21860">
+            <Name lang="en">sodium voltage-gated channel alpha subunit 10</Name>
+            <Symbol>SCN10A</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">Nav1.8</Synonym>
+              <Synonym lang="en">PN3</Synonym>
+              <Synonym lang="en">SNS</Synonym>
+              <Synonym lang="en">hPN3</Synonym>
+              <Synonym lang="en">peripheral nerve sodium channel 3</Synonym>
+              <Synonym lang="en">sensory neuron sodium channel</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83656">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185313</Reference>
+              </ExternalReference>
+              <ExternalReference id="77054">
+                <Source>Genatlas</Source>
+                <Reference>SCN10A</Reference>
+              </ExternalReference>
+              <ExternalReference id="77052">
+                <Source>HGNC</Source>
+                <Reference>10582</Reference>
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+                <Reference>CYP7B1</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66657">
+                <GeneLocus>8q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14696">
+      <OrphaCode>100985</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100985</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 4</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17895902[PMID]</SourceOfValidation>
+          <Gene id="15543">
+            <Name lang="en">spastin</Name>
+            <Symbol>SPAST</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ADPSP</Synonym>
+              <Synonym lang="en">FSP2</Synonym>
+              <Synonym lang="en">KIAA1083</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="27036">
+                <Source>Genatlas</Source>
+                <Reference>SPAST</Reference>
+              </ExternalReference>
+              <ExternalReference id="27034">
+                <Source>HGNC</Source>
+                <Reference>11233</Reference>
+              </ExternalReference>
+              <ExternalReference id="27033">
+                <Source>OMIM</Source>
+                <Reference>604277</Reference>
+              </ExternalReference>
+              <ExternalReference id="32514">
+                <Source>SwissProt</Source>
+                <Reference>Q9UBP0</Reference>
+              </ExternalReference>
+              <ExternalReference id="59992">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000021574</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21599">
+                <GeneLocus>2p22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14710">
+      <OrphaCode>100999</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100999</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 19</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18121">
+            <Name lang="en">spastic paraplegia 19 (autosomal dominant)</Name>
+            <Symbol>SPG19</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41237">
+                <Source>HGNC</Source>
+                <Reference>16706</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10603">
+                <GeneLocus>9q33-q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14711">
+      <OrphaCode>101000</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101000</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 20</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12134148[PMID]_20437587[PMID]</SourceOfValidation>
+          <Gene id="15545">
+            <Name lang="en">spartin</Name>
+            <Symbol>SPART</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA0610</Synonym>
+              <Synonym lang="en">TAHCCP1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143816">
+                <Source>Reactome</Source>
+                <Reference>Q8N0X7</Reference>
+              </ExternalReference>
+              <ExternalReference id="60000">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133104</Reference>
+              </ExternalReference>
+              <ExternalReference id="27045">
+                <Source>Genatlas</Source>
+                <Reference>SPG20</Reference>
+              </ExternalReference>
+              <ExternalReference id="27043">
+                <Source>HGNC</Source>
+                <Reference>18514</Reference>
+              </ExternalReference>
+              <ExternalReference id="27042">
+                <Source>OMIM</Source>
+                <Reference>607111</Reference>
+              </ExternalReference>
+              <ExternalReference id="32516">
+                <Source>SwissProt</Source>
+                <Reference>Q8N0X7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39095">
+                <GeneLocus>13q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14708">
+      <OrphaCode>100997</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100997</ExpertLink>
+      <Name lang="en">X-linked spastic paraplegia type 16</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18153">
+            <Name lang="en">spastic paraplegia 16 (complicated, X-linked recessive)</Name>
+            <Symbol>SPG16</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41304">
+                <Source>HGNC</Source>
+                <Reference>14260</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10629">
+                <GeneLocus>Xq11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="14709">
+      <OrphaCode>100998</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100998</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 17</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14981520[PMID]</SourceOfValidation>
+          <Gene id="15380">
+            <Name lang="en">BSCL2 lipid droplet biogenesis associated, seipin</Name>
+            <Symbol>BSCL2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">seipin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="57905">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168000</Reference>
+              </ExternalReference>
+              <ExternalReference id="26243">
+                <Source>Genatlas</Source>
+                <Reference>BSCL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26241">
+                <Source>HGNC</Source>
+                <Reference>15832</Reference>
+              </ExternalReference>
+              <ExternalReference id="26240">
+                <Source>OMIM</Source>
+                <Reference>606158</Reference>
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+              <ExternalReference id="33937">
+                <Source>SwissProt</Source>
+                <Reference>Q96G97</Reference>
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+            <LocusList count="1">
+              <Locus id="25403">
+                <GeneLocus>11q12.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14706">
+      <OrphaCode>100995</OrphaCode>
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+      <Name lang="en">Autosomal recessive spastic paraplegia type 14</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18144">
+            <Name lang="en">spastic paraplegia 14 (autosomal recessive)</Name>
+            <Symbol>SPG14</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
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+              <ExternalReference id="41281">
+                <Source>HGNC</Source>
+                <Reference>13730</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>3q27-q28</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14707">
+      <OrphaCode>100996</OrphaCode>
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+      <Name lang="en">Autosomal recessive spastic paraplegia type 15</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18394578[PMID]_19805727[PMID]</SourceOfValidation>
+          <Gene id="17323">
+            <Name lang="en">zinc finger FYVE-type containing 26</Name>
+            <Symbol>ZFYVE26</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FYVE-CENT</Synonym>
+              <Synonym lang="en">KIAA0321</Synonym>
+              <Synonym lang="en">spastizin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59999">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000072121</Reference>
+              </ExternalReference>
+              <ExternalReference id="36815">
+                <Source>Genatlas</Source>
+                <Reference>ZFYVE26</Reference>
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+              <ExternalReference id="36816">
+                <Source>HGNC</Source>
+                <Reference>20761</Reference>
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+              <ExternalReference id="37581">
+                <Source>OMIM</Source>
+                <Reference>612012</Reference>
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+              <ExternalReference id="36817">
+                <Source>SwissProt</Source>
+                <Reference>Q68DK2</Reference>
+              </ExternalReference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14704">
+      <OrphaCode>100993</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100993</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 12</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32934340[PMID]</SourceOfValidation>
+          <Gene id="30152">
+            <Name lang="en">ubiquitin associated protein 1</Name>
+            <Symbol>UBAP1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>12461</Reference>
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+              <ExternalReference id="192971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165006</Reference>
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+              <ExternalReference id="192972">
+                <Source>OMIM</Source>
+                <Reference>609787</Reference>
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+              <ExternalReference id="201413">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZ09</Reference>
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+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22232211[PMID]</SourceOfValidation>
+          <Gene id="18120">
+            <Name lang="en">reticulon 2</Name>
+            <Symbol>RTN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">NSP-like protein 1</Synonym>
+              <Synonym lang="en">NSP2</Synonym>
+              <Synonym lang="en">NSPL1</Synonym>
+              <Synonym lang="en">Neuroendocrine-specific protein-like 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="83130">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125744</Reference>
+              </ExternalReference>
+              <ExternalReference id="61073">
+                <Source>Genatlas</Source>
+                <Reference>RTN2</Reference>
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+              <ExternalReference id="61071">
+                <Source>HGNC</Source>
+                <Reference>10468</Reference>
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+              <ExternalReference id="61072">
+                <Source>OMIM</Source>
+                <Reference>603183</Reference>
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+              <ExternalReference id="61074">
+                <Source>SwissProt</Source>
+                <Reference>O75298</Reference>
+              </ExternalReference>
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+                <GeneLocus>19q13.32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14705">
+      <OrphaCode>100994</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100994</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 13</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>1189812[PMID]</SourceOfValidation>
+          <Gene id="16233">
+            <Name lang="en">heat shock protein family D (Hsp60) member 1</Name>
+            <Symbol>HSPD1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">GROEL</Synonym>
+              <Synonym lang="en">GroEL</Synonym>
+              <Synonym lang="en">HSP60</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59997">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000144381</Reference>
+              </ExternalReference>
+              <ExternalReference id="30347">
+                <Source>Genatlas</Source>
+                <Reference>HSPD1</Reference>
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+              <ExternalReference id="30345">
+                <Source>HGNC</Source>
+                <Reference>5261</Reference>
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+              <ExternalReference id="30344">
+                <Source>OMIM</Source>
+                <Reference>118190</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P10809</Reference>
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+              <ExternalReference id="33297">
+                <Source>SwissProt</Source>
+                <Reference>P10809</Reference>
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+                <GeneLocus>2q33.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14718">
+      <OrphaCode>101007</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101007</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 27</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18150">
+            <Name lang="en">spastic paraplegia 27 (autosomal recessive)</Name>
+            <Symbol>SPG27</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
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+              <ExternalReference id="41295">
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+                <Reference>26071</Reference>
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+                <GeneLocus>10q22.1-q24.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14719">
+      <OrphaCode>101008</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101008</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 28</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23176821[PMID]</SourceOfValidation>
+          <Gene id="18140">
+            <Name lang="en">DDHD domain containing 1</Name>
+            <Symbol>DDHD1</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">KIAA1705</Synonym>
+              <Synonym lang="en">PA-PLA1</Synonym>
+              <Synonym lang="en">PAPLA1</Synonym>
+              <Synonym lang="en">Phosphatidic acid-preferring phospholipase A1</Synonym>
+              <Synonym lang="en">iPLA1a</Synonym>
+              <Synonym lang="en">intracellular phospholipase A1 alpha</Synonym>
+              <Synonym lang="en">phosphatidic acid-preferring phospholipase A1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83131">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100523</Reference>
+              </ExternalReference>
+              <ExternalReference id="75287">
+                <Source>Genatlas</Source>
+                <Reference>DDHD1</Reference>
+              </ExternalReference>
+              <ExternalReference id="75285">
+                <Source>HGNC</Source>
+                <Reference>19714</Reference>
+              </ExternalReference>
+              <ExternalReference id="75286">
+                <Source>OMIM</Source>
+                <Reference>614603</Reference>
+              </ExternalReference>
+              <ExternalReference id="98081">
+                <Source>Reactome</Source>
+                <Reference>Q8NEL9</Reference>
+              </ExternalReference>
+              <ExternalReference id="75288">
+                <Source>SwissProt</Source>
+                <Reference>Q8NEL9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21895">
+                <GeneLocus>14q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14716">
+      <OrphaCode>101005</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101005</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 25</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18147">
+            <Name lang="en">spastic paraplegia 25 (autosomal recessive, with disc herniation)</Name>
+            <Symbol>SPG25</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41288">
+                <Source>HGNC</Source>
+                <Reference>25855</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10623">
+                <GeneLocus>6q23-q24.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14717">
+      <OrphaCode>101006</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101006</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 26</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23746551[PMID]</SourceOfValidation>
+          <Gene id="22241">
+            <Name lang="en">beta-1,4-N-acetyl-galactosaminyltransferase 1</Name>
+            <Symbol>B4GALNT1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">GD2 synthase, GM2 synthase</Synonym>
+              <Synonym lang="en">beta1-4GalNAc-T</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83921">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135454</Reference>
+              </ExternalReference>
+              <ExternalReference id="80564">
+                <Source>Genatlas</Source>
+                <Reference>B4GALNT1</Reference>
+              </ExternalReference>
+              <ExternalReference id="80562">
+                <Source>HGNC</Source>
+                <Reference>4117</Reference>
+              </ExternalReference>
+              <ExternalReference id="80563">
+                <Source>OMIM</Source>
+                <Reference>601873</Reference>
+              </ExternalReference>
+              <ExternalReference id="80565">
+                <Source>SwissProt</Source>
+                <Reference>Q00973</Reference>
+              </ExternalReference>
+              <ExternalReference id="126425">
+                <Source>Reactome</Source>
+                <Reference>Q00973</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26835">
+                <GeneLocus>12q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14714">
+      <OrphaCode>101003</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101003</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 23</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28157540[PMID]</SourceOfValidation>
+          <Gene id="22961">
+            <Name lang="en">dual serine/threonine and tyrosine protein kinase</Name>
+            <Symbol>DSTYK</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DustyPK</Synonym>
+              <Synonym lang="en">KIAA0472</Synonym>
+              <Synonym lang="en">RIP5</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91672">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133059</Reference>
+              </ExternalReference>
+              <ExternalReference id="91515">
+                <Source>Genatlas</Source>
+                <Reference>DSTYK</Reference>
+              </ExternalReference>
+              <ExternalReference id="91513">
+                <Source>HGNC</Source>
+                <Reference>29043</Reference>
+              </ExternalReference>
+              <ExternalReference id="91673">
+                <Source>IUPHAR</Source>
+                <Reference>2008</Reference>
+              </ExternalReference>
+              <ExternalReference id="91514">
+                <Source>OMIM</Source>
+                <Reference>612666</Reference>
+              </ExternalReference>
+              <ExternalReference id="91516">
+                <Source>SwissProt</Source>
+                <Reference>Q6XUX3</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20643">
+                <GeneLocus>1q32.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18145">
+            <Name lang="en">spastic paraplegia 23 (autosomal recessive)</Name>
+            <Symbol>SPG23</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41284">
+                <Source>HGNC</Source>
+                <Reference>21340</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10621">
+                <GeneLocus>1q24-q32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14715">
+      <OrphaCode>101004</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101004</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 24</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="18139">
+            <Name lang="en">spastic paraplegia 24 (autosomal recessive)</Name>
+            <Symbol>SPG24</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="41269">
+                <Source>HGNC</Source>
+                <Reference>22993</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10615">
+                <GeneLocus>13q14</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14712">
+      <OrphaCode>101001</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=101001</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 21</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15546">
+            <Name lang="en">SPG21 abhydrolase domain containing, maspardin</Name>
+            <Symbol>SPG21</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ABHD21</Synonym>
+              <Synonym lang="en">ACP33</Synonym>
+              <Synonym lang="en">BM-019</Synonym>
+              <Synonym lang="en">GL010</Synonym>
+              <Synonym lang="en">MAST</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143222">
+                <Source>Reactome</Source>
+                <Reference>Q9NZD8</Reference>
+              </ExternalReference>
+              <ExternalReference id="60001">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000090487</Reference>
+              </ExternalReference>
+              <ExternalReference id="27047">
+                <Source>Genatlas</Source>
+                <Reference>SPG21</Reference>
+              </ExternalReference>
+              <ExternalReference id="27049">
+                <Source>HGNC</Source>
+                <Reference>20373</Reference>
+              </ExternalReference>
+              <ExternalReference id="27048">
+                <Source>OMIM</Source>
+                <Reference>608181</Reference>
+              </ExternalReference>
+              <ExternalReference id="32517">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZD8</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38159">
+                <GeneLocus>15q22.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14665">
+      <OrphaCode>100093</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100093</ExpertLink>
+      <Name lang="en">Carcinoid syndrome</Name>
+      <DisorderType id="21422">
+        <Name lang="en">Clinical syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12007193[PMID]</SourceOfValidation>
+          <Gene id="15264">
+            <Name lang="en">succinate dehydrogenase complex subunit D</Name>
+            <Symbol>SDHD</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">cybS</Synonym>
+              <Synonym lang="en">small subunit of cytochrome b</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="147466">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204370</Reference>
+              </ExternalReference>
+              <ExternalReference id="25683">
+                <Source>Genatlas</Source>
+                <Reference>SDHD</Reference>
+              </ExternalReference>
+              <ExternalReference id="25685">
+                <Source>HGNC</Source>
+                <Reference>10683</Reference>
+              </ExternalReference>
+              <ExternalReference id="25684">
+                <Source>OMIM</Source>
+                <Reference>602690</Reference>
+              </ExternalReference>
+              <ExternalReference id="57055">
+                <Source>Reactome</Source>
+                <Reference>O14521</Reference>
+              </ExternalReference>
+              <ExternalReference id="33822">
+                <Source>SwissProt</Source>
+                <Reference>O14521</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="42295">
+                <GeneLocus>11q23.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14678">
+      <OrphaCode>100924</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100924</ExpertLink>
+      <Name lang="en">Porphyria due to ALA dehydratase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2063868[PMID]_16343966[PMID]</SourceOfValidation>
+          <Gene id="15483">
+            <Name lang="en">aminolevulinate dehydratase</Name>
+            <Symbol>ALAD</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ALADH</Synonym>
+              <Synonym lang="en">PBGS</Synonym>
+              <Synonym lang="en">porphobilinogen synthase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59988">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148218</Reference>
+              </ExternalReference>
+              <ExternalReference id="26747">
+                <Source>Genatlas</Source>
+                <Reference>ALAD</Reference>
+              </ExternalReference>
+              <ExternalReference id="26745">
+                <Source>HGNC</Source>
+                <Reference>395</Reference>
+              </ExternalReference>
+              <ExternalReference id="26744">
+                <Source>OMIM</Source>
+                <Reference>125270</Reference>
+              </ExternalReference>
+              <ExternalReference id="59989">
+                <Source>Reactome</Source>
+                <Reference>P13716</Reference>
+              </ExternalReference>
+              <ExternalReference id="32454">
+                <Source>SwissProt</Source>
+                <Reference>P13716</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7491">
+                <GeneLocus>9q32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14684">
+      <OrphaCode>100973</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100973</ExpertLink>
+      <Name lang="en">FRAXE intellectual disability</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21739600[PMID]</SourceOfValidation>
+          <Gene id="15469">
+            <Name lang="en">ALF transcription elongation factor 2</Name>
+            <Symbol>AFF2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FRAXE</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59990">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000155966</Reference>
+              </ExternalReference>
+              <ExternalReference id="26677">
+                <Source>Genatlas</Source>
+                <Reference>AFF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="26675">
+                <Source>HGNC</Source>
+                <Reference>3776</Reference>
+              </ExternalReference>
+              <ExternalReference id="46525">
+                <Source>OMIM</Source>
+                <Reference>300806</Reference>
+              </ExternalReference>
+              <ExternalReference id="32440">
+                <Source>SwissProt</Source>
+                <Reference>P51816</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7463">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16469443[PMID]_11015457[PMID]</SourceOfValidation>
+          <Gene id="17364">
+            <Name lang="en">fragile X mental retardation associated 3</Name>
+            <Symbol>FMR3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25986">
+              <Name lang="en">Disorder-associated locus</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="37050">
+                <Source>Genatlas</Source>
+                <Reference>FMR3</Reference>
+              </ExternalReference>
+              <ExternalReference id="37051">
+                <Source>HGNC</Source>
+                <Reference>3777</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10095">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14685">
+      <OrphaCode>100974</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100974</ExpertLink>
+      <Name lang="en">FRAXF syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>7874164[PMID]</SourceOfValidation>
+          <Gene id="17963">
+            <Name lang="en">transmembrane protein 185A</Name>
+            <Symbol>TMEM185A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">FRAXF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="95175">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000269556</Reference>
+              </ExternalReference>
+              <ExternalReference id="40488">
+                <Source>Genatlas</Source>
+                <Reference>TMEM185A</Reference>
+              </ExternalReference>
+              <ExternalReference id="40489">
+                <Source>HGNC</Source>
+                <Reference>17125</Reference>
+              </ExternalReference>
+              <ExternalReference id="82589">
+                <Source>OMIM</Source>
+                <Reference>300031</Reference>
+              </ExternalReference>
+              <ExternalReference id="40491">
+                <Source>SwissProt</Source>
+                <Reference>Q8NFB2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14497">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14687">
+      <OrphaCode>100976</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100976</ExpertLink>
+      <Name lang="en">Bathing suit ichthyosis</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16968736[PMID]_20301593[PMID]</SourceOfValidation>
+          <Gene id="15613">
+            <Name lang="en">transglutaminase 1</Name>
+            <Symbol>TGM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase</Synonym>
+              <Synonym lang="en">LI</Synonym>
+              <Synonym lang="en">LI1</Synonym>
+              <Synonym lang="en">TGASE</Synonym>
+              <Synonym lang="en">TGK</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126330">
+                <Source>Reactome</Source>
+                <Reference>P22735</Reference>
+              </ExternalReference>
+              <ExternalReference id="57079">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000092295</Reference>
+              </ExternalReference>
+              <ExternalReference id="27369">
+                <Source>Genatlas</Source>
+                <Reference>TGM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27367">
+                <Source>HGNC</Source>
+                <Reference>11777</Reference>
+              </ExternalReference>
+              <ExternalReference id="27366">
+                <Source>OMIM</Source>
+                <Reference>190195</Reference>
+              </ExternalReference>
+              <ExternalReference id="32584">
+                <Source>SwissProt</Source>
+                <Reference>P22735</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26645">
+                <GeneLocus>14q12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14627">
+      <OrphaCode>100054</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100054</ExpertLink>
+      <Name lang="en">F12-related hereditary angioedema with normal C1Inh</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20384613[PMID]</SourceOfValidation>
+          <Gene id="16010">
+            <Name lang="en">coagulation factor XII</Name>
+            <Symbol>F12</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57717">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131187</Reference>
+              </ExternalReference>
+              <ExternalReference id="29257">
+                <Source>Genatlas</Source>
+                <Reference>F12</Reference>
+              </ExternalReference>
+              <ExternalReference id="29255">
+                <Source>HGNC</Source>
+                <Reference>3530</Reference>
+              </ExternalReference>
+              <ExternalReference id="82908">
+                <Source>IUPHAR</Source>
+                <Reference>2361</Reference>
+              </ExternalReference>
+              <ExternalReference id="29254">
+                <Source>OMIM</Source>
+                <Reference>610619</Reference>
+              </ExternalReference>
+              <ExternalReference id="57718">
+                <Source>Reactome</Source>
+                <Reference>P00748</Reference>
+              </ExternalReference>
+              <ExternalReference id="33024">
+                <Source>SwissProt</Source>
+                <Reference>P00748</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8467">
+                <GeneLocus>5q35.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14624">
+      <OrphaCode>100051</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100051</ExpertLink>
+      <Name lang="en">Hereditary angioedema type 2</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24456027[PMID]</SourceOfValidation>
+          <Gene id="15274">
+            <Name lang="en">serpin family G member 1</Name>
+            <Symbol>SERPING1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">C1-INH</Synonym>
+              <Synonym lang="en">C1-inhibitor</Synonym>
+              <Synonym lang="en">C1IN</Synonym>
+              <Synonym lang="en">C1INH</Synonym>
+              <Synonym lang="en">HAE1</Synonym>
+              <Synonym lang="en">HAE2</Synonym>
+              <Synonym lang="en">angioedema, hereditary</Synonym>
+              <Synonym lang="en">plasma protease C1 inhibitor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59985">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149131</Reference>
+              </ExternalReference>
+              <ExternalReference id="25732">
+                <Source>Genatlas</Source>
+                <Reference>SERPING1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25730">
+                <Source>HGNC</Source>
+                <Reference>1228</Reference>
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+              <ExternalReference id="25729">
+                <Source>OMIM</Source>
+                <Reference>606860</Reference>
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+              <ExternalReference id="59986">
+                <Source>Reactome</Source>
+                <Reference>P05155</Reference>
+              </ExternalReference>
+              <ExternalReference id="33832">
+                <Source>SwissProt</Source>
+                <Reference>P05155</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7109">
+                <GeneLocus>11q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14630">
+      <OrphaCode>100057</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100057</ExpertLink>
+      <Name lang="en">Renin-angiotensin-aldosterone system-blocker-induced angioedema</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20552">
+            <Name lang="en">X-prolyl aminopeptidase 2</Name>
+            <Symbol>XPNPEP2</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59987">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122121</Reference>
+              </ExternalReference>
+              <ExternalReference id="54352">
+                <Source>Genatlas</Source>
+                <Reference>XPNPEP2</Reference>
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+              <ExternalReference id="54350">
+                <Source>HGNC</Source>
+                <Reference>12823</Reference>
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+              <ExternalReference id="83219">
+                <Source>IUPHAR</Source>
+                <Reference>1579</Reference>
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+              <ExternalReference id="54351">
+                <Source>OMIM</Source>
+                <Reference>300145</Reference>
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+              <ExternalReference id="54353">
+                <Source>SwissProt</Source>
+                <Reference>O43895</Reference>
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+              <ExternalReference id="135064">
+                <Source>Reactome</Source>
+                <Reference>O43895</Reference>
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+                <GeneLocus>Xq26.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14642">
+      <OrphaCode>100069</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100069</ExpertLink>
+      <Name lang="en">Semantic dementia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11094121[PMID]</SourceOfValidation>
+          <Gene id="15160">
+            <Name lang="en">presenilin 1</Name>
+            <Symbol>PSEN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">PS1</Synonym>
+              <Synonym lang="en">S182</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57409">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080815</Reference>
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+              <ExternalReference id="25193">
+                <Source>Genatlas</Source>
+                <Reference>PSEN1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>9508</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>2402</Reference>
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+                <Source>OMIM</Source>
+                <Reference>104311</Reference>
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+              <ExternalReference id="57410">
+                <Source>Reactome</Source>
+                <Reference>P49768</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>27543298[PMID]_21614538[PMID]</SourceOfValidation>
+          <Gene id="25303">
+            <Name lang="en">transmembrane protein 106B</Name>
+            <Symbol>TMEM106B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11273</Synonym>
+              <Synonym lang="en">MGC33727</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>22407</Reference>
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+              <ExternalReference id="141138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106460</Reference>
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+                <Source>OMIM</Source>
+                <Reference>613413</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>TMEM106B</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NUM4</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
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+              <Synonym lang="en">DKFZP564O123</Synonym>
+              <Synonym lang="en">VPS2 homolog B (S. cerevisiae)</Synonym>
+              <Synonym lang="en">VPS2B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000083937</Reference>
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+                <Reference>24537</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UQN3</Reference>
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+                <Source>SwissProt</Source>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>24139279[PMID]_25042114[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">microtubule associated protein tau</Name>
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+              <Synonym lang="en">TAU</Synonym>
+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000186868</Reference>
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+                <Source>HGNC</Source>
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+                <Reference>157140</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P10636</Reference>
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+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="17726">
+            <Name lang="en">granulin precursor</Name>
+            <Symbol>GRN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLN11</Synonym>
+              <Synonym lang="en">PCDGF</Synonym>
+              <Synonym lang="en">PGRN</Synonym>
+              <Synonym lang="en">progranulin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126377">
+                <Source>Reactome</Source>
+                <Reference>P28799</Reference>
+              </ExternalReference>
+              <ExternalReference id="60525">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000030582</Reference>
+              </ExternalReference>
+              <ExternalReference id="39251">
+                <Source>Genatlas</Source>
+                <Reference>GRN</Reference>
+              </ExternalReference>
+              <ExternalReference id="39252">
+                <Source>HGNC</Source>
+                <Reference>4601</Reference>
+              </ExternalReference>
+              <ExternalReference id="39253">
+                <Source>OMIM</Source>
+                <Reference>138945</Reference>
+              </ExternalReference>
+              <ExternalReference id="39254">
+                <Source>SwissProt</Source>
+                <Reference>P28799</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26739">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="20676">
+            <Name lang="en">C9orf72-SMCR8 complex subunit</Name>
+            <Symbol>C9ORF72</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DENND9</Synonym>
+              <Synonym lang="en">DENNL72</Synonym>
+              <Synonym lang="en">MGC23980</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="60524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147894</Reference>
+              </ExternalReference>
+              <ExternalReference id="54956">
+                <Source>Genatlas</Source>
+                <Reference>C9orf72</Reference>
+              </ExternalReference>
+              <ExternalReference id="54954">
+                <Source>HGNC</Source>
+                <Reference>28337</Reference>
+              </ExternalReference>
+              <ExternalReference id="54955">
+                <Source>OMIM</Source>
+                <Reference>614260</Reference>
+              </ExternalReference>
+              <ExternalReference id="54957">
+                <Source>SwissProt</Source>
+                <Reference>Q96LT7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21549">
+                <GeneLocus>9p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14643">
+      <OrphaCode>100070</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100070</ExpertLink>
+      <Name lang="en">Progressive non-fluent aphasia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="8">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27543298[PMID]_21614538[PMID]</SourceOfValidation>
+          <Gene id="25303">
+            <Name lang="en">transmembrane protein 106B</Name>
+            <Symbol>TMEM106B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ11273</Synonym>
+              <Synonym lang="en">MGC33727</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="141137">
+                <Source>HGNC</Source>
+                <Reference>22407</Reference>
+              </ExternalReference>
+              <ExternalReference id="141138">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106460</Reference>
+              </ExternalReference>
+              <ExternalReference id="141139">
+                <Source>OMIM</Source>
+                <Reference>613413</Reference>
+              </ExternalReference>
+              <ExternalReference id="141140">
+                <Source>Genatlas</Source>
+                <Reference>TMEM106B</Reference>
+              </ExternalReference>
+              <ExternalReference id="141141">
+                <Source>SwissProt</Source>
+                <Reference>Q9NUM4</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36899">
+                <GeneLocus>7p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15122701[PMID]</SourceOfValidation>
+          <Gene id="15160">
+            <Name lang="en">presenilin 1</Name>
+            <Symbol>PSEN1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FAD</Synonym>
+              <Synonym lang="en">PS1</Synonym>
+              <Synonym lang="en">S182</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57409">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000080815</Reference>
+              </ExternalReference>
+              <ExternalReference id="25193">
+                <Source>Genatlas</Source>
+                <Reference>PSEN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25195">
+                <Source>HGNC</Source>
+                <Reference>9508</Reference>
+              </ExternalReference>
+              <ExternalReference id="82752">
+                <Source>IUPHAR</Source>
+                <Reference>2402</Reference>
+              </ExternalReference>
+              <ExternalReference id="25194">
+                <Source>OMIM</Source>
+                <Reference>104311</Reference>
+              </ExternalReference>
+              <ExternalReference id="57410">
+                <Source>Reactome</Source>
+                <Reference>P49768</Reference>
+              </ExternalReference>
+              <ExternalReference id="33271">
+                <Source>SwissProt</Source>
+                <Reference>P49768</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23391">
+                <GeneLocus>14q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="15446">
+            <Name lang="en">charged multivesicular body protein 2B</Name>
+            <Symbol>CHMP2B</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CHMP2.5</Synonym>
+              <Synonym lang="en">DKFZP564O123</Synonym>
+              <Synonym lang="en">VPS2 homolog B (S. cerevisiae)</Synonym>
+              <Synonym lang="en">VPS2B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58549">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000083937</Reference>
+              </ExternalReference>
+              <ExternalReference id="26556">
+                <Source>Genatlas</Source>
+                <Reference>CHMP2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="26558">
+                <Source>HGNC</Source>
+                <Reference>24537</Reference>
+              </ExternalReference>
+              <ExternalReference id="26557">
+                <Source>OMIM</Source>
+                <Reference>609512</Reference>
+              </ExternalReference>
+              <ExternalReference id="58550">
+                <Source>Reactome</Source>
+                <Reference>Q9UQN3</Reference>
+              </ExternalReference>
+              <ExternalReference id="32415">
+                <Source>SwissProt</Source>
+                <Reference>Q9UQN3</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="26133">
+                <GeneLocus>3p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>25042114[PMID]</SourceOfValidation>
+          <Gene id="15655">
+            <Name lang="en">triggering receptor expressed on myeloid cells 2</Name>
+            <Symbol>TREM2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">TREM-2</Synonym>
+              <Synonym lang="en">Trem2a</Synonym>
+              <Synonym lang="en">Trem2b</Synonym>
+              <Synonym lang="en">Trem2c</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58272">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000095970</Reference>
+              </ExternalReference>
+              <ExternalReference id="37386">
+                <Source>Genatlas</Source>
+                <Reference>TREM2</Reference>
+              </ExternalReference>
+              <ExternalReference id="27568">
+                <Source>HGNC</Source>
+                <Reference>17761</Reference>
+              </ExternalReference>
+              <ExternalReference id="27567">
+                <Source>OMIM</Source>
+                <Reference>605086</Reference>
+              </ExternalReference>
+              <ExternalReference id="58273">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC2</Reference>
+              </ExternalReference>
+              <ExternalReference id="32627">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZC2</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="7813">
+                <GeneLocus>6p21.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="15706">
+            <Name lang="en">valosin containing protein</Name>
+            <Symbol>VCP</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CDC48</Synonym>
+              <Synonym lang="en">IBMPFD</Synonym>
+              <Synonym lang="en">TERA</Synonym>
+              <Synonym lang="en">p97</Synonym>
+              <Synonym lang="en">transitional endoplasmic reticulum ATPase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56814">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165280</Reference>
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+              <ExternalReference id="27809">
+                <Source>Genatlas</Source>
+                <Reference>VCP</Reference>
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+              <ExternalReference id="27807">
+                <Source>HGNC</Source>
+                <Reference>12666</Reference>
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+              <ExternalReference id="27806">
+                <Source>OMIM</Source>
+                <Reference>601023</Reference>
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+              <ExternalReference id="87972">
+                <Source>Reactome</Source>
+                <Reference>P55072</Reference>
+              </ExternalReference>
+              <ExternalReference id="32678">
+                <Source>SwissProt</Source>
+                <Reference>P55072</Reference>
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+            <LocusList count="1">
+              <Locus id="7899">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="16379">
+            <Name lang="en">microtubule associated protein tau</Name>
+            <Symbol>MAPT</Symbol>
+            <SynonymList count="14">
+              <Synonym lang="en">FLJ31424</Synonym>
+              <Synonym lang="en">FTDP-17</Synonym>
+              <Synonym lang="en">G protein beta1/gamma2 subunit-interacting factor 1</Synonym>
+              <Synonym lang="en">MGC138549</Synonym>
+              <Synonym lang="en">MSTD</Synonym>
+              <Synonym lang="en">MTBT1</Synonym>
+              <Synonym lang="en">MTBT2</Synonym>
+              <Synonym lang="en">PPND</Synonym>
+              <Synonym lang="en">PPP1R103</Synonym>
+              <Synonym lang="en">TAU</Synonym>
+              <Synonym lang="en">microtubule-associated protein tau, isoform 4</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 103</Synonym>
+              <Synonym lang="en">tau</Synonym>
+              <Synonym lang="en">tau-40</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57723">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186868</Reference>
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+              <ExternalReference id="31032">
+                <Source>Genatlas</Source>
+                <Reference>MAPT</Reference>
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+              <ExternalReference id="31030">
+                <Source>HGNC</Source>
+                <Reference>6893</Reference>
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+              <ExternalReference id="31029">
+                <Source>OMIM</Source>
+                <Reference>157140</Reference>
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+              <ExternalReference id="57724">
+                <Source>Reactome</Source>
+                <Reference>P10636</Reference>
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+              <ExternalReference id="33443">
+                <Source>SwissProt</Source>
+                <Reference>P10636</Reference>
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+              <Locus id="21499">
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="17726">
+            <Name lang="en">granulin precursor</Name>
+            <Symbol>GRN</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CLN11</Synonym>
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+              <Synonym lang="en">progranulin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="126377">
+                <Source>Reactome</Source>
+                <Reference>P28799</Reference>
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+              <ExternalReference id="60525">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000030582</Reference>
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+              <ExternalReference id="39251">
+                <Source>Genatlas</Source>
+                <Reference>GRN</Reference>
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+              <ExternalReference id="39252">
+                <Source>HGNC</Source>
+                <Reference>4601</Reference>
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+              <ExternalReference id="39253">
+                <Source>OMIM</Source>
+                <Reference>138945</Reference>
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+              <ExternalReference id="39254">
+                <Source>SwissProt</Source>
+                <Reference>P28799</Reference>
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+              <Locus id="26739">
+                <GeneLocus>17q21.31</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23597030[PMID]</SourceOfValidation>
+          <Gene id="20676">
+            <Name lang="en">C9orf72-SMCR8 complex subunit</Name>
+            <Symbol>C9ORF72</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DENND9</Synonym>
+              <Synonym lang="en">DENNL72</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="5">
+              <ExternalReference id="60524">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147894</Reference>
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+              <ExternalReference id="54956">
+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>28337</Reference>
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+              <ExternalReference id="54955">
+                <Source>OMIM</Source>
+                <Reference>614260</Reference>
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+              <ExternalReference id="54957">
+                <Source>SwissProt</Source>
+                <Reference>Q96LT7</Reference>
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+              <Locus id="21549">
+                <GeneLocus>9p21.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="14647">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100075</ExpertLink>
+      <Name lang="en">Neuroendocrine tumor of stomach</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>26026117[PMID]</SourceOfValidation>
+          <Gene id="15335">
+            <Name lang="en">ATRX chromatin remodeler</Name>
+            <Symbol>ATRX</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">RAD54 homolog (S. cerevisiae)</Synonym>
+              <Synonym lang="en">XH2</Synonym>
+              <Synonym lang="en">XNP</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000085224</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>ATRX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>886</Reference>
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+              <ExternalReference id="26024">
+                <Source>OMIM</Source>
+                <Reference>300032</Reference>
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+              <ExternalReference id="33892">
+                <Source>SwissProt</Source>
+                <Reference>P46100</Reference>
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+              <ExternalReference id="143930">
+                <Source>Reactome</Source>
+                <Reference>P46100</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>26026117[PMID]</SourceOfValidation>
+          <Gene id="24456">
+            <Name lang="en">death domain associated protein</Name>
+            <Symbol>DAXX</Symbol>
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+              <Synonym lang="en">DAP6</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>603186</Reference>
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+              <ExternalReference id="134250">
+                <Source>Reactome</Source>
+                <Reference>Q9UER7</Reference>
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+              <ExternalReference id="132731">
+                <Source>SwissProt</Source>
+                <Reference>Q9UER7</Reference>
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+              <ExternalReference id="143071">
+                <Source>Genatlas</Source>
+                <Reference>DAXX</Reference>
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+              <ExternalReference id="133947">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204209</Reference>
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+                <Source>HGNC</Source>
+                <Reference>2681</Reference>
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+            <LocusList count="1">
+              <Locus id="37859">
+                <GeneLocus>6p21.32</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="14593">
+      <OrphaCode>100020</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100020</ExpertLink>
+      <Name lang="en">Refractory anemia with excess blasts type 2</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19483684[PMID]_19557078[PMID]</SourceOfValidation>
+          <Gene id="20177">
+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
+            <Symbol>TET2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ20032</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58667">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168769</Reference>
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+                <Source>Genatlas</Source>
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+              <ExternalReference id="51830">
+                <Source>HGNC</Source>
+                <Reference>25941</Reference>
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+                <Source>OMIM</Source>
+                <Reference>612839</Reference>
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+              <ExternalReference id="87998">
+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
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+              <ExternalReference id="51833">
+                <Source>SwissProt</Source>
+                <Reference>Q6N021</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14592">
+      <OrphaCode>100019</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100019</ExpertLink>
+      <Name lang="en">Refractory anemia with excess blasts type 1</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>19483684[PMID]_19557078[PMID]</SourceOfValidation>
+          <Gene id="20177">
+            <Name lang="en">tet methylcytosine dioxygenase 2</Name>
+            <Symbol>TET2</Symbol>
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+              <Synonym lang="en">FLJ20032</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
+                <Reference>TET2</Reference>
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+              <ExternalReference id="51830">
+                <Source>HGNC</Source>
+                <Reference>25941</Reference>
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+              <ExternalReference id="51831">
+                <Source>OMIM</Source>
+                <Reference>612839</Reference>
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+              <ExternalReference id="87998">
+                <Source>Reactome</Source>
+                <Reference>Q6N021</Reference>
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+              <ExternalReference id="51833">
+                <Source>SwissProt</Source>
+                <Reference>Q6N021</Reference>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14605">
+      <OrphaCode>100032</OrphaCode>
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+      <Name lang="en">Hypocalcified amelogenesis imperfecta</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="4">
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+          <SourceOfValidation>18252228[PMID]</SourceOfValidation>
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+            <Name lang="en">family with sequence similarity 83 member H</Name>
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+              <Synonym lang="en">FLJ46072</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+              <ExternalReference id="59976">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000180921</Reference>
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+              <ExternalReference id="35592">
+                <Source>Genatlas</Source>
+                <Reference>FAM83H</Reference>
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+                <Source>HGNC</Source>
+                <Reference>24797</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">solute carrier family 24 member 4</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000140090</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q8NFF2</Reference>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">integrin subunit beta 6</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115221</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Ensembl</Source>
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+                <Source>Ensembl</Source>
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+                <Source>SwissProt</Source>
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+                <Source>Reactome</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P18564</Reference>
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+              <ExternalReference id="89554">
+                <Source>SwissProt</Source>
+                <Reference>P18564</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60585">
+                <GeneLocus>2q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24858907[PMID]</SourceOfValidation>
+          <Gene id="23051">
+            <Name lang="en">ameloblastin</Name>
+            <Symbol>AMBN</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">enamel matrix protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="143966">
+                <Source>Reactome</Source>
+                <Reference>Q9NP70</Reference>
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+              <ExternalReference id="94830">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000178522</Reference>
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+              <ExternalReference id="94828">
+                <Source>Genatlas</Source>
+                <Reference>AMBN</Reference>
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+              <ExternalReference id="94826">
+                <Source>HGNC</Source>
+                <Reference>452</Reference>
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+              <ExternalReference id="94827">
+                <Source>OMIM</Source>
+                <Reference>601259</Reference>
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+              <ExternalReference id="94829">
+                <Source>SwissProt</Source>
+                <Reference>Q9NP70</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>4q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14607">
+      <OrphaCode>100034</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100034</ExpertLink>
+      <Name lang="en">Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>15666299[PMID]</SourceOfValidation>
+          <Gene id="15874">
+            <Name lang="en">distal-less homeobox 3</Name>
+            <Symbol>DLX3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064195</Reference>
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+              <ExternalReference id="28596">
+                <Source>Genatlas</Source>
+                <Reference>DLX3</Reference>
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+              <ExternalReference id="28598">
+                <Source>HGNC</Source>
+                <Reference>2916</Reference>
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+              <ExternalReference id="28597">
+                <Source>OMIM</Source>
+                <Reference>600525</Reference>
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+              <ExternalReference id="32885">
+                <Source>SwissProt</Source>
+                <Reference>O60479</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q21.33</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14606">
+      <OrphaCode>100033</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100033</ExpertLink>
+      <Name lang="en">Hypomaturation amelogenesis imperfecta</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="7">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27693231[PMID]</SourceOfValidation>
+          <Gene id="25064">
+            <Name lang="en">G protein-coupled receptor 68</Name>
+            <Symbol>GPR68</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">OGR1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="134703">
+                <Source>HGNC</Source>
+                <Reference>4519</Reference>
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+              <ExternalReference id="134704">
+                <Source>OMIM</Source>
+                <Reference>601404</Reference>
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+              <ExternalReference id="134705">
+                <Source>Genatlas</Source>
+                <Reference>GPR68</Reference>
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+              <ExternalReference id="134706">
+                <Source>SwissProt</Source>
+                <Reference>Q15743</Reference>
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+              <ExternalReference id="134707">
+                <Source>Reactome</Source>
+                <Reference>Q15743</Reference>
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+              <ExternalReference id="134708">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119714</Reference>
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+              <ExternalReference id="134709">
+                <Source>IUPHAR</Source>
+                <Reference>114</Reference>
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+                <GeneLocus>14q32.11</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23251683[PMID]</SourceOfValidation>
+          <Gene id="15507">
+            <Name lang="en">amelogenin X-linked</Name>
+            <Symbol>AMELX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">amelogenesis imperfecta 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59977">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125363</Reference>
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+              <ExternalReference id="26861">
+                <Source>Genatlas</Source>
+                <Reference>AMELX</Reference>
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+              <ExternalReference id="26863">
+                <Source>HGNC</Source>
+                <Reference>461</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q99217</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q99217</Reference>
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+                <GeneLocus>Xp22.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>21597265[PMID]</SourceOfValidation>
+          <Gene id="16867">
+            <Name lang="en">kallikrein related peptidase 4</Name>
+            <Symbol>KLK4</Symbol>
+            <SynonymList count="5">
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+              <Synonym lang="en">EMSP1</Synonym>
+              <Synonym lang="en">KLK-L1</Synonym>
+              <Synonym lang="en">PSTS</Synonym>
+              <Synonym lang="en">enamel matrix serine proteinase 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59978">
+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>6365</Reference>
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+                <Source>OMIM</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>15744043[PMID]</SourceOfValidation>
+          <Gene id="16869">
+            <Name lang="en">matrix metallopeptidase 20</Name>
+            <Symbol>MMP20</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">enamelysin</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Ensembl</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">WD repeat domain 72</Name>
+            <Symbol>WDR72</Symbol>
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+                <Source>SwissProt</Source>
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+                <Reference>ENSG00000166415</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">odontogenesis associated phosphoprotein</Name>
+            <Symbol>ODAPH</Symbol>
+            <SynonymList count="3">
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+              <Synonym lang="en">FLJ23657</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Autosomal dominant intermediate Charcot-Marie-Tooth disease type B</Name>
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+            <Name lang="en">dynamin 2</Name>
+            <Symbol>DNM2</Symbol>
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+              <Synonym lang="en">DYN2</Synonym>
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+              <Synonym lang="en">cytoskeletal protein</Synonym>
+              <Synonym lang="en">dynamin II</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000079805</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>ENSG00000134684</Reference>
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+                <Source>Reactome</Source>
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+            <LocusList count="1">
+              <Locus id="9851">
+                <GeneLocus>1p35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14619">
+      <OrphaCode>100046</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100046</ExpertLink>
+      <Name lang="en">Autosomal dominant intermediate Charcot-Marie-Tooth disease type D</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10406984[PMID]</SourceOfValidation>
+          <Gene id="16463">
+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2I</Synonym>
+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
+              <Synonym lang="en">P0</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58324">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158887</Reference>
+              </ExternalReference>
+              <ExternalReference id="31418">
+                <Source>Genatlas</Source>
+                <Reference>MPZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="31420">
+                <Source>HGNC</Source>
+                <Reference>7225</Reference>
+              </ExternalReference>
+              <ExternalReference id="31419">
+                <Source>OMIM</Source>
+                <Reference>159440</Reference>
+              </ExternalReference>
+              <ExternalReference id="33528">
+                <Source>SwissProt</Source>
+                <Reference>P25189</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22399">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14623">
+      <OrphaCode>100050</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100050</ExpertLink>
+      <Name lang="en">Hereditary angioedema type 1</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24456027[PMID]</SourceOfValidation>
+          <Gene id="15274">
+            <Name lang="en">serpin family G member 1</Name>
+            <Symbol>SERPING1</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">C1-INH</Synonym>
+              <Synonym lang="en">C1-inhibitor</Synonym>
+              <Synonym lang="en">C1IN</Synonym>
+              <Synonym lang="en">C1INH</Synonym>
+              <Synonym lang="en">HAE1</Synonym>
+              <Synonym lang="en">HAE2</Synonym>
+              <Synonym lang="en">angioedema, hereditary</Synonym>
+              <Synonym lang="en">plasma protease C1 inhibitor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59985">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000149131</Reference>
+              </ExternalReference>
+              <ExternalReference id="25732">
+                <Source>Genatlas</Source>
+                <Reference>SERPING1</Reference>
+              </ExternalReference>
+              <ExternalReference id="25730">
+                <Source>HGNC</Source>
+                <Reference>1228</Reference>
+              </ExternalReference>
+              <ExternalReference id="25729">
+                <Source>OMIM</Source>
+                <Reference>606860</Reference>
+              </ExternalReference>
+              <ExternalReference id="59986">
+                <Source>Reactome</Source>
+                <Reference>P05155</Reference>
+              </ExternalReference>
+              <ExternalReference id="33832">
+                <Source>SwissProt</Source>
+                <Reference>P05155</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="7109">
+                <GeneLocus>11q12.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14581">
+      <OrphaCode>100008</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100008</ExpertLink>
+      <Name lang="en">ACys amyloidosis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>2541223[PMID]</SourceOfValidation>
+          <Gene id="15814">
+            <Name lang="en">cystatin C</Name>
+            <Symbol>CST3</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59472">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000101439</Reference>
+              </ExternalReference>
+              <ExternalReference id="28318">
+                <Source>Genatlas</Source>
+                <Reference>CST3</Reference>
+              </ExternalReference>
+              <ExternalReference id="28316">
+                <Source>HGNC</Source>
+                <Reference>2475</Reference>
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+              <ExternalReference id="28315">
+                <Source>OMIM</Source>
+                <Reference>604312</Reference>
+              </ExternalReference>
+              <ExternalReference id="59473">
+                <Source>Reactome</Source>
+                <Reference>P01034</Reference>
+              </ExternalReference>
+              <ExternalReference id="32825">
+                <Source>SwissProt</Source>
+                <Reference>P01034</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21661">
+                <GeneLocus>20p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14579">
+      <OrphaCode>100006</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=100006</ExpertLink>
+      <Name lang="en">ABeta amyloidosis, Dutch type</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24870607[PMID]</SourceOfValidation>
+          <Gene id="15941">
+            <Name lang="en">amyloid beta precursor protein</Name>
+            <Symbol>APP</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">alpha-sAPP</Synonym>
+              <Synonym lang="en">peptidase nexin-II</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="57407">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000142192</Reference>
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+              <ExternalReference id="28905">
+                <Source>Genatlas</Source>
+                <Reference>APP</Reference>
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+              <ExternalReference id="28907">
+                <Source>HGNC</Source>
+                <Reference>620</Reference>
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+              <ExternalReference id="28906">
+                <Source>OMIM</Source>
+                <Reference>104760</Reference>
+              </ExternalReference>
+              <ExternalReference id="57408">
+                <Source>Reactome</Source>
+                <Reference>P05067</Reference>
+              </ExternalReference>
+              <ExternalReference id="32952">
+                <Source>SwissProt</Source>
+                <Reference>P05067</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="21729">
+                <GeneLocus>21q21.3</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="14562">
+      <OrphaCode>99989</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99989</ExpertLink>
+      <Name lang="en">Intermediate DEND syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16292">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-sensitive inward rectifier potassium channel 11</Synonym>
+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
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+              <ExternalReference id="30625">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
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+              <ExternalReference id="30623">
+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
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+              <ExternalReference id="82967">
+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
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+              <ExternalReference id="30622">
+                <Source>OMIM</Source>
+                <Reference>600937</Reference>
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+              <ExternalReference id="59295">
+                <Source>Reactome</Source>
+                <Reference>Q14654</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14550">
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+      <Name lang="en">Squamous cell carcinoma of the esophagus</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="15732">
+            <Name lang="en">WW domain containing oxidoreductase</Name>
+            <Symbol>WWOX</Symbol>
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+              <Synonym lang="en">FOR</Synonym>
+              <Synonym lang="en">SDR41C1</Synonym>
+              <Synonym lang="en">WOX1</Synonym>
+              <Synonym lang="en">short chain dehydrogenase/reductase family 41C, member 1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59227">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186153</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>WWOX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>12799</Reference>
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+              <ExternalReference id="27926">
+                <Source>OMIM</Source>
+                <Reference>605131</Reference>
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+              <ExternalReference id="59228">
+                <Source>Reactome</Source>
+                <Reference>Q9NZC7</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9NZC7</Reference>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>12154016[PMID]</SourceOfValidation>
+          <Gene id="25179">
+            <Name lang="en">ring finger protein 6</Name>
+            <Symbol>RNF6</Symbol>
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+              <Synonym lang="en">DKFZp686P0776</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>OMIM</Source>
+                <Reference>604242</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>RNF6</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9Y252</Reference>
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+              <ExternalReference id="135459">
+                <Source>Reactome</Source>
+                <Reference>Q9Y252</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000127870</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+            <Name lang="en">Not yet assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17680270[PMID]</SourceOfValidation>
+          <Gene id="15611">
+            <Name lang="en">transforming growth factor beta receptor 2</Name>
+            <Symbol>TGFBR2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>11773</Reference>
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+                <Reference>1795</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P37173</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P37173</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>10213508[PMID]</SourceOfValidation>
+          <Gene id="24471">
+            <Name lang="en">DLEC1 cilia and flagella associated protein</Name>
+            <Symbol>DLEC1</Symbol>
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+              <Synonym lang="en">DLC1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000008226</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="132746">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y238</Reference>
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+              <ExternalReference id="135461">
+                <Source>Genatlas</Source>
+                <Reference>DLEC1</Reference>
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+                <Reference>2899</Reference>
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+            <Name lang="en">Candidate gene tested in</Name>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
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+    <Disorder id="14544">
+      <OrphaCode>99971</OrphaCode>
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+      <Name lang="en">Well-differentiated liposarcoma</Name>
+      <DisorderType id="21457">
+        <Name lang="en">Histopathological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15422">
+            <Name lang="en">cyclin dependent kinase 4</Name>
+            <Symbol>CDK4</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">PSK-J3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58643">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000135446</Reference>
+              </ExternalReference>
+              <ExternalReference id="36696">
+                <Source>Genatlas</Source>
+                <Reference>CDK4</Reference>
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+              <ExternalReference id="26442">
+                <Source>HGNC</Source>
+                <Reference>1773</Reference>
+              </ExternalReference>
+              <ExternalReference id="82805">
+                <Source>IUPHAR</Source>
+                <Reference>1976</Reference>
+              </ExternalReference>
+              <ExternalReference id="26441">
+                <Source>OMIM</Source>
+                <Reference>123829</Reference>
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+              <ExternalReference id="58644">
+                <Source>Reactome</Source>
+                <Reference>P11802</Reference>
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+                <Reference>P52926</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+            <Name lang="en">cyclin dependent kinase 4</Name>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000135446</Reference>
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+              <ExternalReference id="36696">
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+                <Reference>CDK4</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1773</Reference>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>5009</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
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+                <Reference>6973</Reference>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">heterogeneous nuclear ribonucleoprotein P2</Synonym>
+              <Synonym lang="en">hnRNP-P2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56797">
+                <Source>Reactome</Source>
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+              <Name lang="en">gene with protein product</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Synonym lang="en">Sfh1p</Synonym>
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+              <Synonym lang="en">hSNFS</Synonym>
+              <Synonym lang="en">integrase interactor 1</Synonym>
+              <Synonym lang="en">malignant rhabdoid tumor suppressor</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 144</Synonym>
+              <Synonym lang="en">sucrose nonfermenting, yeast, homolog-like 1</Synonym>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14528">
+      <OrphaCode>99955</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99955</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4B1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301641[PMID]</SourceOfValidation>
+          <Gene id="16477">
+            <Name lang="en">myotubularin related protein 2</Name>
+            <Symbol>MTMR2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1073</Synonym>
+              <Synonym lang="en">phosphatidylinositol-3-phosphatase</Synonym>
+              <Synonym lang="en">phosphoinositide-3-phosphatase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59973">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000087053</Reference>
+              </ExternalReference>
+              <ExternalReference id="31486">
+                <Source>Genatlas</Source>
+                <Reference>MTMR2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31484">
+                <Source>HGNC</Source>
+                <Reference>7450</Reference>
+              </ExternalReference>
+              <ExternalReference id="31483">
+                <Source>OMIM</Source>
+                <Reference>603557</Reference>
+              </ExternalReference>
+              <ExternalReference id="83003">
+                <Source>Reactome</Source>
+                <Reference>Q13614</Reference>
+              </ExternalReference>
+              <ExternalReference id="33542">
+                <Source>SwissProt</Source>
+                <Reference>Q13614</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21693">
+                <GeneLocus>11q21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14529">
+      <OrphaCode>99956</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99956</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4B2</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301641[PMID]</SourceOfValidation>
+          <Gene id="15248">
+            <Name lang="en">SET binding factor 2</Name>
+            <Symbol>SBF2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DENND7B</Synonym>
+              <Synonym lang="en">KIAA1766</Synonym>
+              <Synonym lang="en">MTMR13</Synonym>
+              <Synonym lang="en">myotubularin related 13</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="126316">
+                <Source>Reactome</Source>
+                <Reference>Q86WG5</Reference>
+              </ExternalReference>
+              <ExternalReference id="59974">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133812</Reference>
+              </ExternalReference>
+              <ExternalReference id="25607">
+                <Source>Genatlas</Source>
+                <Reference>SBF2</Reference>
+              </ExternalReference>
+              <ExternalReference id="25609">
+                <Source>HGNC</Source>
+                <Reference>2135</Reference>
+              </ExternalReference>
+              <ExternalReference id="25608">
+                <Source>OMIM</Source>
+                <Reference>607697</Reference>
+              </ExternalReference>
+              <ExternalReference id="33806">
+                <Source>SwissProt</Source>
+                <Reference>Q86WG5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26617">
+                <GeneLocus>11p15.4</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14521">
+      <OrphaCode>99948</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99948</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4A</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301711[PMID]</SourceOfValidation>
+          <Gene id="16113">
+            <Name lang="en">ganglioside induced differentiation associated protein 1</Name>
+            <Symbol>GDAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMT2K</Synonym>
+              <Synonym lang="en">CMT4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104381</Reference>
+              </ExternalReference>
+              <ExternalReference id="29772">
+                <Source>Genatlas</Source>
+                <Reference>GDAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29770">
+                <Source>HGNC</Source>
+                <Reference>15968</Reference>
+              </ExternalReference>
+              <ExternalReference id="29769">
+                <Source>OMIM</Source>
+                <Reference>606598</Reference>
+              </ExternalReference>
+              <ExternalReference id="33128">
+                <Source>SwissProt</Source>
+                <Reference>Q8TB36</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23925">
+                <GeneLocus>8q21.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14520">
+      <OrphaCode>99947</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99947</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2A2</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16394">
+            <Name lang="en">mitofusin 2</Name>
+            <Symbol>MFN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2A2</Synonym>
+              <Synonym lang="en">CPRP1</Synonym>
+              <Synonym lang="en">KIAA0214</Synonym>
+              <Synonym lang="en">MARF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59547">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116688</Reference>
+              </ExternalReference>
+              <ExternalReference id="31106">
+                <Source>Genatlas</Source>
+                <Reference>MFN2</Reference>
+              </ExternalReference>
+              <ExternalReference id="31104">
+                <Source>HGNC</Source>
+                <Reference>16877</Reference>
+              </ExternalReference>
+              <ExternalReference id="31103">
+                <Source>OMIM</Source>
+                <Reference>608507</Reference>
+              </ExternalReference>
+              <ExternalReference id="59548">
+                <Source>Reactome</Source>
+                <Reference>O95140</Reference>
+              </ExternalReference>
+              <ExternalReference id="33458">
+                <Source>SwissProt</Source>
+                <Reference>O95140</Reference>
+              </ExternalReference>
+              <ExternalReference id="190394">
+                <Source>IUPHAR</Source>
+                <Reference>3131</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="60197">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14523">
+      <OrphaCode>99950</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99950</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4D</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>10831399[PMID]_20301641[PMID]</SourceOfValidation>
+          <Gene id="16524">
+            <Name lang="en">N-myc downstream regulated 1</Name>
+            <Symbol>NDRG1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DRG1</Synonym>
+              <Synonym lang="en">NDR1</Synonym>
+              <Synonym lang="en">RTP</Synonym>
+              <Synonym lang="en">TDD5</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100310">
+                <Source>Reactome</Source>
+                <Reference>Q92597</Reference>
+              </ExternalReference>
+              <ExternalReference id="59969">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104419</Reference>
+              </ExternalReference>
+              <ExternalReference id="35745">
+                <Source>Genatlas</Source>
+                <Reference>NDRG1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31702">
+                <Source>HGNC</Source>
+                <Reference>7679</Reference>
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+              <ExternalReference id="31701">
+                <Source>OMIM</Source>
+                <Reference>605262</Reference>
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+              <ExternalReference id="33589">
+                <Source>SwissProt</Source>
+                <Reference>Q92597</Reference>
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+            <LocusList count="1">
+              <Locus id="23117">
+                <GeneLocus>8q24.22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14522">
+      <OrphaCode>99949</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99949</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4C</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301514[PMID]</SourceOfValidation>
+          <Gene id="15288">
+            <Name lang="en">SH3 domain and tetratricopeptide repeats 2</Name>
+            <Symbol>SH3TC2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMT4C</Synonym>
+              <Synonym lang="en">KIAA1985</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59968">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169247</Reference>
+              </ExternalReference>
+              <ExternalReference id="25801">
+                <Source>Genatlas</Source>
+                <Reference>SH3TC2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>29427</Reference>
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+              <ExternalReference id="25798">
+                <Source>OMIM</Source>
+                <Reference>608206</Reference>
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+              <ExternalReference id="33846">
+                <Source>SwissProt</Source>
+                <Reference>Q8TF17</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>5q32</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14525">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99952</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4F</Name>
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+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>20301641[PMID]</SourceOfValidation>
+          <Gene id="15158">
+            <Name lang="en">periaxin</Name>
+            <Symbol>PRX</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">KIAA1620</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59970">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000105227</Reference>
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+              <ExternalReference id="36553">
+                <Source>Genatlas</Source>
+                <Reference>PRX</Reference>
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+                <Source>HGNC</Source>
+                <Reference>13797</Reference>
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+              <ExternalReference id="25184">
+                <Source>OMIM</Source>
+                <Reference>605725</Reference>
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+              <ExternalReference id="33269">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXM0</Reference>
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+                <GeneLocus>19q13.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14524">
+      <OrphaCode>99951</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99951</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4E</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>20301641[PMID]</SourceOfValidation>
+          <Gene id="15918">
+            <Name lang="en">early growth response 2</Name>
+            <Symbol>EGR2</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Krox-20 homolog, Drosophila</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59167">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122877</Reference>
+              </ExternalReference>
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+                <Source>Genatlas</Source>
+                <Reference>EGR2</Reference>
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+                <Reference>3239</Reference>
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+                <Source>OMIM</Source>
+                <Reference>129010</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P11161</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P11161</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14527">
+      <OrphaCode>99954</OrphaCode>
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+      <Name lang="en">Charcot-Marie-Tooth disease type 4H</Name>
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+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>23926620[PMID]_20301641[PMID]</SourceOfValidation>
+          <Gene id="16815">
+            <Name lang="en">FYVE, RhoGEF and PH domain containing 4</Name>
+            <Symbol>FGD4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CMT4H</Synonym>
+              <Synonym lang="en">FRABP</Synonym>
+              <Synonym lang="en">Frabin</Synonym>
+              <Synonym lang="en">ZFYVE6</Synonym>
+              <Synonym lang="en">frabin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139132</Reference>
+              </ExternalReference>
+              <ExternalReference id="35076">
+                <Source>Genatlas</Source>
+                <Reference>FGD4</Reference>
+              </ExternalReference>
+              <ExternalReference id="36754">
+                <Source>HGNC</Source>
+                <Reference>19125</Reference>
+              </ExternalReference>
+              <ExternalReference id="36755">
+                <Source>OMIM</Source>
+                <Reference>611104</Reference>
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+              <ExternalReference id="59972">
+                <Source>Reactome</Source>
+                <Reference>Q96M96</Reference>
+              </ExternalReference>
+              <ExternalReference id="35078">
+                <Source>SwissProt</Source>
+                <Reference>Q96M96</Reference>
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+                <GeneLocus>12p11.21</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14526">
+      <OrphaCode>99953</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99953</ExpertLink>
+      <Name lang="en">Charcot-Marie-Tooth disease type 4G</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>19536174[PMID]</SourceOfValidation>
+          <Gene id="16199">
+            <Name lang="en">hexokinase 1</Name>
+            <Symbol>HK1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59542">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000156515</Reference>
+              </ExternalReference>
+              <ExternalReference id="30184">
+                <Source>Genatlas</Source>
+                <Reference>HK1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30182">
+                <Source>HGNC</Source>
+                <Reference>4922</Reference>
+              </ExternalReference>
+              <ExternalReference id="30181">
+                <Source>OMIM</Source>
+                <Reference>142600</Reference>
+              </ExternalReference>
+              <ExternalReference id="59543">
+                <Source>Reactome</Source>
+                <Reference>P19367</Reference>
+              </ExternalReference>
+              <ExternalReference id="33217">
+                <Source>SwissProt</Source>
+                <Reference>P19367</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22863">
+                <GeneLocus>10q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14513">
+      <OrphaCode>99940</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99940</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2F</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16230">
+            <Name lang="en">heat shock protein family B (small) member 1</Name>
+            <Symbol>HSPB1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CMT2F</Synonym>
+              <Synonym lang="en">HSP27</Synonym>
+              <Synonym lang="en">HSP28</Synonym>
+              <Synonym lang="en">Hs.76067</Synonym>
+              <Synonym lang="en">Hsp25</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59963">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106211</Reference>
+              </ExternalReference>
+              <ExternalReference id="30333">
+                <Source>Genatlas</Source>
+                <Reference>HSPB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="30331">
+                <Source>HGNC</Source>
+                <Reference>5246</Reference>
+              </ExternalReference>
+              <ExternalReference id="30330">
+                <Source>OMIM</Source>
+                <Reference>602195</Reference>
+              </ExternalReference>
+              <ExternalReference id="59964">
+                <Source>Reactome</Source>
+                <Reference>P04792</Reference>
+              </ExternalReference>
+              <ExternalReference id="33294">
+                <Source>SwissProt</Source>
+                <Reference>P04792</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8885">
+                <GeneLocus>7q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14512">
+      <OrphaCode>99939</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99939</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2E</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16537">
+            <Name lang="en">neurofilament light chain</Name>
+            <Symbol>NEFL</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CMT1F</Synonym>
+              <Synonym lang="en">CMT2E</Synonym>
+              <Synonym lang="en">NF68</Synonym>
+              <Synonym lang="en">NFL</Synonym>
+              <Synonym lang="en">PPP1R110</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 110</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="95168">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000277586</Reference>
+              </ExternalReference>
+              <ExternalReference id="31764">
+                <Source>Genatlas</Source>
+                <Reference>NEFL</Reference>
+              </ExternalReference>
+              <ExternalReference id="31762">
+                <Source>HGNC</Source>
+                <Reference>7739</Reference>
+              </ExternalReference>
+              <ExternalReference id="31761">
+                <Source>OMIM</Source>
+                <Reference>162280</Reference>
+              </ExternalReference>
+              <ExternalReference id="59962">
+                <Source>Reactome</Source>
+                <Reference>P07196</Reference>
+              </ExternalReference>
+              <ExternalReference id="33602">
+                <Source>SwissProt</Source>
+                <Reference>P07196</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="14455">
+                <GeneLocus>8p21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14515">
+      <OrphaCode>99942</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99942</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2I</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16463">
+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2I</Synonym>
+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
+              <Synonym lang="en">P0</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58324">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158887</Reference>
+              </ExternalReference>
+              <ExternalReference id="31418">
+                <Source>Genatlas</Source>
+                <Reference>MPZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="31420">
+                <Source>HGNC</Source>
+                <Reference>7225</Reference>
+              </ExternalReference>
+              <ExternalReference id="31419">
+                <Source>OMIM</Source>
+                <Reference>159440</Reference>
+              </ExternalReference>
+              <ExternalReference id="33528">
+                <Source>SwissProt</Source>
+                <Reference>P25189</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22399">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14517">
+      <OrphaCode>99944</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99944</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2K</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16113">
+            <Name lang="en">ganglioside induced differentiation associated protein 1</Name>
+            <Symbol>GDAP1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CMT2K</Synonym>
+              <Synonym lang="en">CMT4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59965">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000104381</Reference>
+              </ExternalReference>
+              <ExternalReference id="29772">
+                <Source>Genatlas</Source>
+                <Reference>GDAP1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29770">
+                <Source>HGNC</Source>
+                <Reference>15968</Reference>
+              </ExternalReference>
+              <ExternalReference id="29769">
+                <Source>OMIM</Source>
+                <Reference>606598</Reference>
+              </ExternalReference>
+              <ExternalReference id="33128">
+                <Source>SwissProt</Source>
+                <Reference>Q8TB36</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23925">
+                <GeneLocus>8q21.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14516">
+      <OrphaCode>99943</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99943</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2J</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16463">
+            <Name lang="en">myelin protein zero</Name>
+            <Symbol>MPZ</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CMT2I</Synonym>
+              <Synonym lang="en">CMT2J</Synonym>
+              <Synonym lang="en">HMSNIB</Synonym>
+              <Synonym lang="en">P0</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58324">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158887</Reference>
+              </ExternalReference>
+              <ExternalReference id="31418">
+                <Source>Genatlas</Source>
+                <Reference>MPZ</Reference>
+              </ExternalReference>
+              <ExternalReference id="31420">
+                <Source>HGNC</Source>
+                <Reference>7225</Reference>
+              </ExternalReference>
+              <ExternalReference id="31419">
+                <Source>OMIM</Source>
+                <Reference>159440</Reference>
+              </ExternalReference>
+              <ExternalReference id="33528">
+                <Source>SwissProt</Source>
+                <Reference>P25189</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="22399">
+                <GeneLocus>1q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14519">
+      <OrphaCode>99946</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99946</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2A1</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11389829[PMID]_20301462[PMID]</SourceOfValidation>
+          <Gene id="16304">
+            <Name lang="en">kinesin family member 1B</Name>
+            <Symbol>KIF1B</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">HMSNII</Synonym>
+              <Synonym lang="en">KIAA0591</Synonym>
+              <Synonym lang="en">KLP</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="100304">
+                <Source>Reactome</Source>
+                <Reference>O60333</Reference>
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+              <ExternalReference id="59967">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000054523</Reference>
+              </ExternalReference>
+              <ExternalReference id="30683">
+                <Source>Genatlas</Source>
+                <Reference>KIF1B</Reference>
+              </ExternalReference>
+              <ExternalReference id="30681">
+                <Source>HGNC</Source>
+                <Reference>16636</Reference>
+              </ExternalReference>
+              <ExternalReference id="30680">
+                <Source>OMIM</Source>
+                <Reference>605995</Reference>
+              </ExternalReference>
+              <ExternalReference id="33369">
+                <Source>SwissProt</Source>
+                <Reference>O60333</Reference>
+              </ExternalReference>
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+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14518">
+      <OrphaCode>99945</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99945</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2L</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16231">
+            <Name lang="en">heat shock protein family B (small) member 8</Name>
+            <Symbol>HSPB8</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CMT2L</Synonym>
+              <Synonym lang="en">E2IG1</Synonym>
+              <Synonym lang="en">H11</Synonym>
+              <Synonym lang="en">HSP22</Synonym>
+              <Synonym lang="en">HspB8</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59966">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152137</Reference>
+              </ExternalReference>
+              <ExternalReference id="30335">
+                <Source>Genatlas</Source>
+                <Reference>HSPB8</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>30171</Reference>
+              </ExternalReference>
+              <ExternalReference id="30336">
+                <Source>OMIM</Source>
+                <Reference>608014</Reference>
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+              <ExternalReference id="98059">
+                <Source>Reactome</Source>
+                <Reference>Q9UJY1</Reference>
+              </ExternalReference>
+              <ExternalReference id="33295">
+                <Source>SwissProt</Source>
+                <Reference>Q9UJY1</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14509">
+      <OrphaCode>99936</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99936</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2B</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
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+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="15182">
+            <Name lang="en">RAB7A, member RAS oncogene family</Name>
+            <Symbol>RAB7A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000075785</Reference>
+              </ExternalReference>
+              <ExternalReference id="35721">
+                <Source>Genatlas</Source>
+                <Reference>RAB7A</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>9788</Reference>
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+                <Source>OMIM</Source>
+                <Reference>602298</Reference>
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+              <ExternalReference id="82755">
+                <Source>Reactome</Source>
+                <Reference>P51149</Reference>
+              </ExternalReference>
+              <ExternalReference id="33706">
+                <Source>SwissProt</Source>
+                <Reference>P51149</Reference>
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+              <Locus id="25151">
+                <GeneLocus>3q21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14510">
+      <OrphaCode>99937</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99937</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2C</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="17899">
+            <Name lang="en">transient receptor potential cation channel subfamily V member 4</Name>
+            <Symbol>TRPV4</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CMT2C</Synonym>
+              <Synonym lang="en">OTRPC4</Synonym>
+              <Synonym lang="en">TRP12</Synonym>
+              <Synonym lang="en">VR-OAC</Synonym>
+              <Synonym lang="en">VRL-2</Synonym>
+              <Synonym lang="en">VROAC</Synonym>
+              <Synonym lang="en">osmosensitive transient receptor potential channel 4</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57370">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111199</Reference>
+              </ExternalReference>
+              <ExternalReference id="40143">
+                <Source>Genatlas</Source>
+                <Reference>TRPV4</Reference>
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+              <ExternalReference id="40144">
+                <Source>HGNC</Source>
+                <Reference>18083</Reference>
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+              <ExternalReference id="83123">
+                <Source>IUPHAR</Source>
+                <Reference>510</Reference>
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+              <ExternalReference id="40145">
+                <Source>OMIM</Source>
+                <Reference>605427</Reference>
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+              <ExternalReference id="83122">
+                <Source>Reactome</Source>
+                <Reference>Q9HBA0</Reference>
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+              <ExternalReference id="82619">
+                <Source>SwissProt</Source>
+                <Reference>Q9HBA0</Reference>
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+            <LocusList count="1">
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14511">
+      <OrphaCode>99938</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99938</ExpertLink>
+      <Name lang="en">Autosomal dominant Charcot-Marie-Tooth disease type 2D</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301462[PMID]</SourceOfValidation>
+          <Gene id="16101">
+            <Name lang="en">glycyl-tRNA synthetase 1</Name>
+            <Symbol>GARS1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DSMAV</Synonym>
+              <Synonym lang="en">GlyRS</Synonym>
+              <Synonym lang="en">SMAD1</Synonym>
+              <Synonym lang="en">glycine tRNA ligase</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59959">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106105</Reference>
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+              <ExternalReference id="29712">
+                <Source>Genatlas</Source>
+                <Reference>GARS</Reference>
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+              <ExternalReference id="29710">
+                <Source>HGNC</Source>
+                <Reference>4162</Reference>
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+                <Source>OMIM</Source>
+                <Reference>600287</Reference>
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+              <ExternalReference id="59960">
+                <Source>Reactome</Source>
+                <Reference>P41250</Reference>
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+              <ExternalReference id="33116">
+                <Source>SwissProt</Source>
+                <Reference>P41250</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+    <Disorder id="14489">
+      <OrphaCode>99916</OrphaCode>
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+      <Name lang="en">Malignant Sertoli-Leydig cell tumor of the ovary</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <Gene id="18649">
+            <Name lang="en">dicer 1, ribonuclease III</Name>
+            <Symbol>DICER1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Dicer</Synonym>
+              <Synonym lang="en">HERNA</Synonym>
+              <Synonym lang="en">K12H4.8-LIKE</Synonym>
+              <Synonym lang="en">KIAA0928</Synonym>
+              <Synonym lang="en">dicer 1, double-stranded RNA-specific endoribonuclease</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59956">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100697</Reference>
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+              <ExternalReference id="43044">
+                <Source>Genatlas</Source>
+                <Reference>DICER1</Reference>
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+              <ExternalReference id="43045">
+                <Source>HGNC</Source>
+                <Reference>17098</Reference>
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+              <ExternalReference id="43046">
+                <Source>OMIM</Source>
+                <Reference>606241</Reference>
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+              <ExternalReference id="59957">
+                <Source>Reactome</Source>
+                <Reference>Q9UPY3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9UPY3</Reference>
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+      <OrphaCode>99915</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99915</ExpertLink>
+      <Name lang="en">Maligant granulosa cell tumor of the ovary</Name>
+      <DisorderType id="21394">
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">forkhead box L2</Name>
+            <Symbol>FOXL2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="57047">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000183770</Reference>
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+              <ExternalReference id="29553">
+                <Source>Genatlas</Source>
+                <Reference>FOXL2</Reference>
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+                <Source>HGNC</Source>
+                <Reference>1092</Reference>
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+                <Source>OMIM</Source>
+                <Reference>605597</Reference>
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+              <ExternalReference id="33083">
+                <Source>SwissProt</Source>
+                <Reference>P58012</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P58012</Reference>
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+                <Reference>DICER1</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q9UPY3</Reference>
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+      <Name lang="en">Gynandroblastoma</Name>
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+                <Reference>ENSG00000124827</Reference>
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+          <Gene id="16390">
+            <Name lang="en">menin 1</Name>
+            <Symbol>MEN1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">menin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="56835">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000133895</Reference>
+              </ExternalReference>
+              <ExternalReference id="31084">
+                <Source>Genatlas</Source>
+                <Reference>MEN1</Reference>
+              </ExternalReference>
+              <ExternalReference id="31086">
+                <Source>HGNC</Source>
+                <Reference>7010</Reference>
+              </ExternalReference>
+              <ExternalReference id="50621">
+                <Source>OMIM</Source>
+                <Reference>613733</Reference>
+              </ExternalReference>
+              <ExternalReference id="82991">
+                <Source>Reactome</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+              <ExternalReference id="33454">
+                <Source>SwissProt</Source>
+                <Reference>O00255</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9189">
+                <GeneLocus>11q13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14453">
+      <OrphaCode>99880</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99880</ExpertLink>
+      <Name lang="en">Hyperparathyroidism-jaw tumor syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>12434154[PMID]</SourceOfValidation>
+          <Gene id="15418">
+            <Name lang="en">cell division cycle 73</Name>
+            <Symbol>CDC73</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FIHP</Synonym>
+              <Synonym lang="en">Paf1/RNA polymerase II complex component</Synonym>
+              <Synonym lang="en">parafibromin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58875">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134371</Reference>
+              </ExternalReference>
+              <ExternalReference id="26421">
+                <Source>Genatlas</Source>
+                <Reference>CDC73</Reference>
+              </ExternalReference>
+              <ExternalReference id="26423">
+                <Source>HGNC</Source>
+                <Reference>16783</Reference>
+              </ExternalReference>
+              <ExternalReference id="26422">
+                <Source>OMIM</Source>
+                <Reference>607393</Reference>
+              </ExternalReference>
+              <ExternalReference id="87967">
+                <Source>Reactome</Source>
+                <Reference>Q6P1J9</Reference>
+              </ExternalReference>
+              <ExternalReference id="32386">
+                <Source>SwissProt</Source>
+                <Reference>Q6P1J9</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24301">
+                <GeneLocus>1q31.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25979">
+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14460">
+      <OrphaCode>99887</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99887</ExpertLink>
+      <Name lang="en">Acute megakaryoblastic leukemia in Down syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>14636651[PMID]</SourceOfValidation>
+          <Gene id="16102">
+            <Name lang="en">GATA binding protein 1</Name>
+            <Symbol>GATA1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">ERYF1</Synonym>
+              <Synonym lang="en">GATA-1</Synonym>
+              <Synonym lang="en">NF-E1</Synonym>
+              <Synonym lang="en">NFE1</Synonym>
+              <Synonym lang="en">nuclear factor, erythroid 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59199">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000102145</Reference>
+              </ExternalReference>
+              <ExternalReference id="29714">
+                <Source>Genatlas</Source>
+                <Reference>GATA1</Reference>
+              </ExternalReference>
+              <ExternalReference id="29716">
+                <Source>HGNC</Source>
+                <Reference>4170</Reference>
+              </ExternalReference>
+              <ExternalReference id="29715">
+                <Source>OMIM</Source>
+                <Reference>305371</Reference>
+              </ExternalReference>
+              <ExternalReference id="59200">
+                <Source>Reactome</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
+              <ExternalReference id="33117">
+                <Source>SwissProt</Source>
+                <Reference>P15976</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+                <GeneLocus>Xp11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14458">
+      <OrphaCode>99885</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99885</ExpertLink>
+      <Name lang="en">Isolated permanent neonatal diabetes mellitus</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="6">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28073828[PMID]</SourceOfValidation>
+          <Gene id="16805">
+            <Name lang="en">signal transducer and activator of transcription 3</Name>
+            <Symbol>STAT3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">APRF</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57719">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168610</Reference>
+              </ExternalReference>
+              <ExternalReference id="35023">
+                <Source>Genatlas</Source>
+                <Reference>STAT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="35024">
+                <Source>HGNC</Source>
+                <Reference>11364</Reference>
+              </ExternalReference>
+              <ExternalReference id="35026">
+                <Source>OMIM</Source>
+                <Reference>102582</Reference>
+              </ExternalReference>
+              <ExternalReference id="57720">
+                <Source>Reactome</Source>
+                <Reference>P40763</Reference>
+              </ExternalReference>
+              <ExternalReference id="35025">
+                <Source>SwissProt</Source>
+                <Reference>P40763</Reference>
+              </ExternalReference>
+              <ExternalReference id="190408">
+                <Source>IUPHAR</Source>
+                <Reference>2994</Reference>
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+            <LocusList count="1">
+              <Locus id="60225">
+                <GeneLocus>17q21.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) (gain of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]_20301620[PMID]_24843665[PMID]</SourceOfValidation>
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+            <Name lang="en">ATP binding cassette subfamily C member 8</Name>
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+              <Synonym lang="en">ABC36</Synonym>
+              <Synonym lang="en">HHF1</Synonym>
+              <Synonym lang="en">HI</Synonym>
+              <Synonym lang="en">MRP8</Synonym>
+              <Synonym lang="en">PHHI</Synonym>
+              <Synonym lang="en">SUR1</Synonym>
+              <Synonym lang="en">TNDM2</Synonym>
+              <Synonym lang="en">sulfonylurea receptor (hyperinsulinemia)</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="59427">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000006071</Reference>
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+              <ExternalReference id="24690">
+                <Source>Genatlas</Source>
+                <Reference>ABCC8</Reference>
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+                <Source>HGNC</Source>
+                <Reference>59</Reference>
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+              <ExternalReference id="82726">
+                <Source>IUPHAR</Source>
+                <Reference>2594</Reference>
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+              <ExternalReference id="24691">
+                <Source>OMIM</Source>
+                <Reference>600509</Reference>
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+              <ExternalReference id="59428">
+                <Source>Reactome</Source>
+                <Reference>Q09428</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q09428</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>21844708[PMID]_22498247[PMID]_20301620[PMID]</SourceOfValidation>
+          <Gene id="16110">
+            <Name lang="en">glucokinase</Name>
+            <Symbol>GCK</Symbol>
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+              <Synonym lang="en">HK4</Synonym>
+              <Synonym lang="en">hexokinase 4</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58793">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000106633</Reference>
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+              <ExternalReference id="29754">
+                <Source>Genatlas</Source>
+                <Reference>GCK</Reference>
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+                <Source>HGNC</Source>
+                <Reference>4195</Reference>
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+                <Source>OMIM</Source>
+                <Reference>138079</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P35557</Reference>
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+              <ExternalReference id="33125">
+                <Source>SwissProt</Source>
+                <Reference>P35557</Reference>
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+                <Source>IUPHAR</Source>
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+          <Gene id="16292">
+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ATP-sensitive inward rectifier potassium channel 11</Synonym>
+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
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+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301620[PMID]_22498247[PMID]</SourceOfValidation>
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+            <Name lang="en">pancreatic and duodenal homeobox 1</Name>
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+              <Synonym lang="en">MODY4</Synonym>
+              <Synonym lang="en">PDX-1</Synonym>
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+              <Synonym lang="en">somatostatin transcription factor 1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139515</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
+                <Reference>6107</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P52945</Reference>
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+            <Name lang="en">insulin</Name>
+            <Symbol>INS</Symbol>
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+                <Source>Ensembl</Source>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Transient neonatal diabetes mellitus</Name>
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+                <Reference>ENSG00000006071</Reference>
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+                <Reference>2594</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q09428</Reference>
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+                <Reference>Q09428</Reference>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 11</Name>
+            <Symbol>KCNJ11</Symbol>
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+              <Synonym lang="en">BIR</Synonym>
+              <Synonym lang="en">Kir6.2</Synonym>
+              <Synonym lang="en">beta-cell inward rectifier</Synonym>
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+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59294">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187486</Reference>
+              </ExternalReference>
+              <ExternalReference id="30625">
+                <Source>Genatlas</Source>
+                <Reference>KCNJ11</Reference>
+              </ExternalReference>
+              <ExternalReference id="30623">
+                <Source>HGNC</Source>
+                <Reference>6257</Reference>
+              </ExternalReference>
+              <ExternalReference id="82967">
+                <Source>IUPHAR</Source>
+                <Reference>442</Reference>
+              </ExternalReference>
+              <ExternalReference id="30622">
+                <Source>OMIM</Source>
+                <Reference>600937</Reference>
+              </ExternalReference>
+              <ExternalReference id="59295">
+                <Source>Reactome</Source>
+                <Reference>Q14654</Reference>
+              </ExternalReference>
+              <ExternalReference id="33357">
+                <Source>SwissProt</Source>
+                <Reference>Q14654</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9001">
+                <GeneLocus>11p15.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301706[PMID]_21844708[PMID]_20803656[PMID]</SourceOfValidation>
+          <Gene id="17383">
+            <Name lang="en">hydatidiform mole associated and imprinted</Name>
+            <Symbol>HYMAI</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NCRNA00020</Synonym>
+              <Synonym lang="en">non-protein coding RNA 20</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="98043">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000283122</Reference>
+              </ExternalReference>
+              <ExternalReference id="37160">
+                <Source>Genatlas</Source>
+                <Reference>HYMAI</Reference>
+              </ExternalReference>
+              <ExternalReference id="37162">
+                <Source>HGNC</Source>
+                <Reference>5326</Reference>
+              </ExternalReference>
+              <ExternalReference id="37590">
+                <Source>OMIM</Source>
+                <Reference>606546</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="17697">
+                <GeneLocus>6q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301706[PMID]_21844708[PMID]_20803656[PMID]</SourceOfValidation>
+          <Gene id="17405">
+            <Name lang="en">PLAG1 like zinc finger 1</Name>
+            <Symbol>PLAGL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">LOT1</Synonym>
+              <Synonym lang="en">ZAC</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59778">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118495</Reference>
+              </ExternalReference>
+              <ExternalReference id="37301">
+                <Source>Genatlas</Source>
+                <Reference>PLAGL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37302">
+                <Source>HGNC</Source>
+                <Reference>9046</Reference>
+              </ExternalReference>
+              <ExternalReference id="37303">
+                <Source>OMIM</Source>
+                <Reference>603044</Reference>
+              </ExternalReference>
+              <ExternalReference id="37304">
+                <Source>SwissProt</Source>
+                <Reference>Q9UM63</Reference>
+              </ExternalReference>
+              <ExternalReference id="100318">
+                <Source>Reactome</Source>
+                <Reference>Q9UM63</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25611">
+                <GeneLocus>6q24.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID]</SourceOfValidation>
+          <Gene id="18552">
+            <Name lang="en">ZFP57 zinc finger protein</Name>
+            <Symbol>ZFP57</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ZNF698</Synonym>
+              <Synonym lang="en">bA145L22</Synonym>
+              <Synonym lang="en">bA145L22.2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="42910">
+                <Source>HGNC</Source>
+                <Reference>18791</Reference>
+              </ExternalReference>
+              <ExternalReference id="42911">
+                <Source>OMIM</Source>
+                <Reference>612192</Reference>
+              </ExternalReference>
+              <ExternalReference id="42912">
+                <Source>SwissProt</Source>
+                <Reference>Q9NU63</Reference>
+              </ExternalReference>
+              <ExternalReference id="59953">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204644</Reference>
+              </ExternalReference>
+              <ExternalReference id="42909">
+                <Source>Genatlas</Source>
+                <Reference>ZFP57</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="10813">
+                <GeneLocus>6p22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14434">
+      <OrphaCode>99861</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99861</ExpertLink>
+      <Name lang="en">Precursor T-cell acute lymphoblastic leukemia</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="24">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="15062">
+            <Name lang="en">ABL proto-oncogene 1, non-receptor tyrosine kinase</Name>
+            <Symbol>ABL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">JTK7</Synonym>
+              <Synonym lang="en">c-ABL</Synonym>
+              <Synonym lang="en">p150</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="24720">
+                <Source>OMIM</Source>
+                <Reference>189980</Reference>
+              </ExternalReference>
+              <ExternalReference id="58695">
+                <Source>Reactome</Source>
+                <Reference>P00519</Reference>
+              </ExternalReference>
+              <ExternalReference id="32339">
+                <Source>SwissProt</Source>
+                <Reference>P00519</Reference>
+              </ExternalReference>
+              <ExternalReference id="58694">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000097007</Reference>
+              </ExternalReference>
+              <ExternalReference id="24719">
+                <Source>Genatlas</Source>
+                <Reference>ABL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24721">
+                <Source>HGNC</Source>
+                <Reference>76</Reference>
+              </ExternalReference>
+              <ExternalReference id="82727">
+                <Source>IUPHAR</Source>
+                <Reference>1923</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22709">
+                <GeneLocus>9q34.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="25729">
+            <Name lang="en">SET nuclear proto-oncogene</Name>
+            <Symbol>SET</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">2PP2A</Synonym>
+              <Synonym lang="en">HLA-DR-associated protein II</Synonym>
+              <Synonym lang="en">IGAAD</Synonym>
+              <Synonym lang="en">IPP2A2</Synonym>
+              <Synonym lang="en">PHAPII</Synonym>
+              <Synonym lang="en">TAF-I</Synonym>
+              <Synonym lang="en">TAF-IBETA</Synonym>
+              <Synonym lang="en">Template-Activating Factor-I</Synonym>
+              <Synonym lang="en">Template-Activating Factor-I, chromatin remodelling factor</Synonym>
+              <Synonym lang="en">chromatin remodelling factor</Synonym>
+              <Synonym lang="en">inhibitor of granzyme A-activated DNase</Synonym>
+              <Synonym lang="en">protein phosphatase type 2A inhibitor</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="146923">
+                <Source>HGNC</Source>
+                <Reference>10760</Reference>
+              </ExternalReference>
+              <ExternalReference id="146924">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119335</Reference>
+              </ExternalReference>
+              <ExternalReference id="146925">
+                <Source>SwissProt</Source>
+                <Reference>Q01105</Reference>
+              </ExternalReference>
+              <ExternalReference id="146926">
+                <Source>OMIM</Source>
+                <Reference>600960</Reference>
+              </ExternalReference>
+              <ExternalReference id="146927">
+                <Source>Genatlas</Source>
+                <Reference>SET</Reference>
+              </ExternalReference>
+              <ExternalReference id="146928">
+                <Source>Reactome</Source>
+                <Reference>Q01105</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="41499">
+                <GeneLocus>9q34.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="17759">
+            <Name lang="en">nucleoporin 214</Name>
+            <Symbol>NUP214</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">CAIN</Synonym>
+              <Synonym lang="en">CAN</Synonym>
+              <Synonym lang="en">CAN protein, putative oncogene</Synonym>
+              <Synonym lang="en">D9S46E</Synonym>
+              <Synonym lang="en">N214</Synonym>
+              <Synonym lang="en">nuclear pore complex protein Nup214</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59799">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126883</Reference>
+              </ExternalReference>
+              <ExternalReference id="39594">
+                <Source>Genatlas</Source>
+                <Reference>NUP214</Reference>
+              </ExternalReference>
+              <ExternalReference id="39595">
+                <Source>HGNC</Source>
+                <Reference>8064</Reference>
+              </ExternalReference>
+              <ExternalReference id="39596">
+                <Source>OMIM</Source>
+                <Reference>114350</Reference>
+              </ExternalReference>
+              <ExternalReference id="59800">
+                <Source>Reactome</Source>
+                <Reference>P35658</Reference>
+              </ExternalReference>
+              <ExternalReference id="39597">
+                <Source>SwissProt</Source>
+                <Reference>P35658</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23701">
+                <GeneLocus>9q34.13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="22649">
+            <Name lang="en">zinc finger and BTB domain containing 16</Name>
+            <Symbol>ZBTB16</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PLZF</Synonym>
+              <Synonym lang="en">promyelocytic leukaemia zinc finger</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="87623">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109906</Reference>
+              </ExternalReference>
+              <ExternalReference id="85839">
+                <Source>Genatlas</Source>
+                <Reference>ZBTB16</Reference>
+              </ExternalReference>
+              <ExternalReference id="85837">
+                <Source>HGNC</Source>
+                <Reference>12930</Reference>
+              </ExternalReference>
+              <ExternalReference id="85838">
+                <Source>OMIM</Source>
+                <Reference>176797</Reference>
+              </ExternalReference>
+              <ExternalReference id="87622">
+                <Source>Reactome</Source>
+                <Reference>Q05516</Reference>
+              </ExternalReference>
+              <ExternalReference id="85840">
+                <Source>SwissProt</Source>
+                <Reference>Q05516</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23635">
+                <GeneLocus>11q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="22887">
+            <Name lang="en">spalt like transcription factor 2</Name>
+            <Symbol>SALL2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">Hsal2</Synonym>
+              <Synonym lang="en">KIAA0360</Synonym>
+              <Synonym lang="en">ZNF795</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="91581">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165821</Reference>
+              </ExternalReference>
+              <ExternalReference id="89950">
+                <Source>Genatlas</Source>
+                <Reference>SALL2</Reference>
+              </ExternalReference>
+              <ExternalReference id="89948">
+                <Source>HGNC</Source>
+                <Reference>10526</Reference>
+              </ExternalReference>
+              <ExternalReference id="89949">
+                <Source>OMIM</Source>
+                <Reference>602219</Reference>
+              </ExternalReference>
+              <ExternalReference id="89951">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y467</Reference>
+              </ExternalReference>
+              <ExternalReference id="143860">
+                <Source>Reactome</Source>
+                <Reference>Q9Y467</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39185">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>29279377[PMID]</SourceOfValidation>
+          <Gene id="21986">
+            <Name lang="en">T-cell receptor alpha locus</Name>
+            <Symbol>TRA</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="200181">
+                <Source>SwissProt</Source>
+                <Reference>P0DSE1</Reference>
+              </ExternalReference>
+              <ExternalReference id="84662">
+                <Source>Genatlas</Source>
+                <Reference>TRA@</Reference>
+              </ExternalReference>
+              <ExternalReference id="78351">
+                <Source>HGNC</Source>
+                <Reference>12027</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="79887">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15365">
+            <Name lang="en">BCR activator of RhoGEF and GTPase</Name>
+            <Symbol>BCR</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">ALL</Synonym>
+              <Synonym lang="en">CML</Synonym>
+              <Synonym lang="en">D22S662</Synonym>
+              <Synonym lang="en">PHL</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="56848">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186716</Reference>
+              </ExternalReference>
+              <ExternalReference id="36244">
+                <Source>Genatlas</Source>
+                <Reference>BCR</Reference>
+              </ExternalReference>
+              <ExternalReference id="26170">
+                <Source>HGNC</Source>
+                <Reference>1014</Reference>
+              </ExternalReference>
+              <ExternalReference id="87966">
+                <Source>IUPHAR</Source>
+                <Reference>2755</Reference>
+              </ExternalReference>
+              <ExternalReference id="26169">
+                <Source>OMIM</Source>
+                <Reference>151410</Reference>
+              </ExternalReference>
+              <ExternalReference id="56849">
+                <Source>Reactome</Source>
+                <Reference>P11274</Reference>
+              </ExternalReference>
+              <ExternalReference id="33922">
+                <Source>SwissProt</Source>
+                <Reference>P11274</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24887">
+                <GeneLocus>22q11.23</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>18838613[PMID]</SourceOfValidation>
+          <Gene id="15426">
+            <Name lang="en">cyclin dependent kinase inhibitor 2A</Name>
+            <Symbol>CDKN2A</Symbol>
+            <SynonymList count="12">
+              <Synonym lang="en">ARF</Synonym>
+              <Synonym lang="en">CDK4I</Synonym>
+              <Synonym lang="en">CMM2</Synonym>
+              <Synonym lang="en">INK4</Synonym>
+              <Synonym lang="en">INK4a</Synonym>
+              <Synonym lang="en">MTS1</Synonym>
+              <Synonym lang="en">p14</Synonym>
+              <Synonym lang="en">p14ARF</Synonym>
+              <Synonym lang="en">p16</Synonym>
+              <Synonym lang="en">p16INK4a</Synonym>
+              <Synonym lang="en">p19</Synonym>
+              <Synonym lang="en">p19Arf</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58645">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000147889</Reference>
+              </ExternalReference>
+              <ExternalReference id="26459">
+                <Source>Genatlas</Source>
+                <Reference>CDKN2A</Reference>
+              </ExternalReference>
+              <ExternalReference id="26461">
+                <Source>HGNC</Source>
+                <Reference>1787</Reference>
+              </ExternalReference>
+              <ExternalReference id="26460">
+                <Source>OMIM</Source>
+                <Reference>600160</Reference>
+              </ExternalReference>
+              <ExternalReference id="82807">
+                <Source>Reactome</Source>
+                <Reference>P42771</Reference>
+              </ExternalReference>
+              <ExternalReference id="82604">
+                <Source>SwissProt</Source>
+                <Reference>P42771</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22457">
+                <GeneLocus>9p21.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15576">
+            <Name lang="en">TAL bHLH transcription factor 1, erythroid differentiation factor</Name>
+            <Symbol>TAL1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SCL</Synonym>
+              <Synonym lang="en">bHLHa17</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59950">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000162367</Reference>
+              </ExternalReference>
+              <ExternalReference id="36388">
+                <Source>Genatlas</Source>
+                <Reference>TAL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="27190">
+                <Source>HGNC</Source>
+                <Reference>11556</Reference>
+              </ExternalReference>
+              <ExternalReference id="27189">
+                <Source>OMIM</Source>
+                <Reference>187040</Reference>
+              </ExternalReference>
+              <ExternalReference id="32547">
+                <Source>SwissProt</Source>
+                <Reference>P17542</Reference>
+              </ExternalReference>
+              <ExternalReference id="143426">
+                <Source>Reactome</Source>
+                <Reference>P17542</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38557">
+                <GeneLocus>1p33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>16234090[PMID]</SourceOfValidation>
+          <Gene id="16784">
+            <Name lang="en">fms related receptor tyrosine kinase 3</Name>
+            <Symbol>FLT3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CD135</Synonym>
+              <Synonym lang="en">FLK2</Synonym>
+              <Synonym lang="en">STK1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="59488">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000122025</Reference>
+              </ExternalReference>
+              <ExternalReference id="34918">
+                <Source>Genatlas</Source>
+                <Reference>FLT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="34919">
+                <Source>HGNC</Source>
+                <Reference>3765</Reference>
+              </ExternalReference>
+              <ExternalReference id="83027">
+                <Source>IUPHAR</Source>
+                <Reference>1807</Reference>
+              </ExternalReference>
+              <ExternalReference id="34920">
+                <Source>OMIM</Source>
+                <Reference>136351</Reference>
+              </ExternalReference>
+              <ExternalReference id="100311">
+                <Source>Reactome</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+              <ExternalReference id="34921">
+                <Source>SwissProt</Source>
+                <Reference>P36888</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="26261">
+                <GeneLocus>13q12.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17399">
+            <Name lang="en">MYC proto-oncogene, bHLH transcription factor</Name>
+            <Symbol>MYC</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">MYCC</Synonym>
+              <Synonym lang="en">bHLHe39</Synonym>
+              <Synonym lang="en">c-Myc</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58720">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000136997</Reference>
+              </ExternalReference>
+              <ExternalReference id="37265">
+                <Source>Genatlas</Source>
+                <Reference>MYC</Reference>
+              </ExternalReference>
+              <ExternalReference id="37266">
+                <Source>HGNC</Source>
+                <Reference>7553</Reference>
+              </ExternalReference>
+              <ExternalReference id="37268">
+                <Source>OMIM</Source>
+                <Reference>190080</Reference>
+              </ExternalReference>
+              <ExternalReference id="58721">
+                <Source>Reactome</Source>
+                <Reference>P01106</Reference>
+              </ExternalReference>
+              <ExternalReference id="37267">
+                <Source>SwissProt</Source>
+                <Reference>P01106</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21635">
+                <GeneLocus>8q24.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17920">
+            <Name lang="en">STIL centriolar assembly protein</Name>
+            <Symbol>STIL</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">MCPH7</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="142939">
+                <Source>Reactome</Source>
+                <Reference>Q15468</Reference>
+              </ExternalReference>
+              <ExternalReference id="57649">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123473</Reference>
+              </ExternalReference>
+              <ExternalReference id="40359">
+                <Source>Genatlas</Source>
+                <Reference>STIL</Reference>
+              </ExternalReference>
+              <ExternalReference id="40360">
+                <Source>HGNC</Source>
+                <Reference>10879</Reference>
+              </ExternalReference>
+              <ExternalReference id="40361">
+                <Source>OMIM</Source>
+                <Reference>181590</Reference>
+              </ExternalReference>
+              <ExternalReference id="40362">
+                <Source>SwissProt</Source>
+                <Reference>Q15468</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="37595">
+                <GeneLocus>1p33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20089">
+            <Name lang="en">MYB proto-oncogene, transcription factor</Name>
+            <Symbol>MYB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">c-myb</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59486">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000118513</Reference>
+              </ExternalReference>
+              <ExternalReference id="51241">
+                <Source>Genatlas</Source>
+                <Reference>MYB</Reference>
+              </ExternalReference>
+              <ExternalReference id="51239">
+                <Source>HGNC</Source>
+                <Reference>7545</Reference>
+              </ExternalReference>
+              <ExternalReference id="51240">
+                <Source>OMIM</Source>
+                <Reference>189990</Reference>
+              </ExternalReference>
+              <ExternalReference id="59487">
+                <Source>Reactome</Source>
+                <Reference>P10242</Reference>
+              </ExternalReference>
+              <ExternalReference id="51242">
+                <Source>SwissProt</Source>
+                <Reference>P10242</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22225">
+                <GeneLocus>6q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21985">
+            <Name lang="en">T-cell receptor beta locus</Name>
+            <Symbol>TRB</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="78348">
+                <Source>Genatlas</Source>
+                <Reference>TRB@</Reference>
+              </ExternalReference>
+              <ExternalReference id="78346">
+                <Source>HGNC</Source>
+                <Reference>12155</Reference>
+              </ExternalReference>
+              <ExternalReference id="97343">
+                <Source>Reactome</Source>
+                <Reference>P04435</Reference>
+              </ExternalReference>
+              <ExternalReference id="189391">
+                <Source>SwissProt</Source>
+                <Reference>P0DSE2</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="88459">
+                <GeneLocus>7q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21987">
+            <Name lang="en">T-cell receptor delta locus</Name>
+            <Symbol>TRD</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TCRDV1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="78357">
+                <Source>Genatlas</Source>
+                <Reference>TRD@</Reference>
+              </ExternalReference>
+              <ExternalReference id="78355">
+                <Source>HGNC</Source>
+                <Reference>12252</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="27071">
+                <GeneLocus>14q11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21988">
+            <Name lang="en">T-cell receptor gamma locus</Name>
+            <Symbol>TRG</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">T-cell antigen receptor, gamma polypeptide</Synonym>
+              <Synonym lang="en">T-cell rearranging gene, gamma</Synonym>
+              <Synonym lang="en">T-cell receptor, gamma cluster</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="2">
+              <ExternalReference id="78361">
+                <Source>Genatlas</Source>
+                <Reference>TRG@</Reference>
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+              <ExternalReference id="78359">
+                <Source>HGNC</Source>
+                <Reference>12271</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12475">
+                <GeneLocus>7p14</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="21989">
+            <Name lang="en">TCL1 family AKT coactivator A</Name>
+            <Symbol>TCL1A</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">TCL1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143005">
+                <Source>Reactome</Source>
+                <Reference>P56279</Reference>
+              </ExternalReference>
+              <ExternalReference id="83740">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000100721</Reference>
+              </ExternalReference>
+              <ExternalReference id="78365">
+                <Source>Genatlas</Source>
+                <Reference>TCL1A</Reference>
+              </ExternalReference>
+              <ExternalReference id="78363">
+                <Source>HGNC</Source>
+                <Reference>11648</Reference>
+              </ExternalReference>
+              <ExternalReference id="78364">
+                <Source>OMIM</Source>
+                <Reference>186960</Reference>
+              </ExternalReference>
+              <ExternalReference id="78366">
+                <Source>SwissProt</Source>
+                <Reference>P56279</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="51149">
+                <GeneLocus>14q32.13</GeneLocus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22516255[PMID]_22516263[PMID]</SourceOfValidation>
+          <Gene id="21990">
+            <Name lang="en">T cell leukemia homeobox 1</Name>
+            <Symbol>TLX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)</Synonym>
+              <Synonym lang="en">homeo box 11 (T-cell lymphoma 3-associated breakpoint)</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83741">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000107807</Reference>
+              </ExternalReference>
+              <ExternalReference id="78370">
+                <Source>Genatlas</Source>
+                <Reference>TLX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="78368">
+                <Source>HGNC</Source>
+                <Reference>5056</Reference>
+              </ExternalReference>
+              <ExternalReference id="78369">
+                <Source>OMIM</Source>
+                <Reference>186770</Reference>
+              </ExternalReference>
+              <ExternalReference id="78371">
+                <Source>SwissProt</Source>
+                <Reference>P31314</Reference>
+              </ExternalReference>
+              <ExternalReference id="143435">
+                <Source>Reactome</Source>
+                <Reference>P31314</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38575">
+                <GeneLocus>10q24.31</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>22516255[PMID]_22516263[PMID]</SourceOfValidation>
+          <Gene id="21991">
+            <Name lang="en">T cell leukemia homeobox 3</Name>
+            <Symbol>TLX3</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">RNX</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83742">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000164438</Reference>
+              </ExternalReference>
+              <ExternalReference id="78375">
+                <Source>Genatlas</Source>
+                <Reference>TLX3</Reference>
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+              <ExternalReference id="78373">
+                <Source>HGNC</Source>
+                <Reference>13532</Reference>
+              </ExternalReference>
+              <ExternalReference id="143160">
+                <Source>Reactome</Source>
+                <Reference>O43711</Reference>
+              </ExternalReference>
+              <ExternalReference id="78374">
+                <Source>OMIM</Source>
+                <Reference>604640</Reference>
+              </ExternalReference>
+              <ExternalReference id="78376">
+                <Source>SwissProt</Source>
+                <Reference>O43711</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38035">
+                <GeneLocus>5q35.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23263491[PMID]</SourceOfValidation>
+          <Gene id="22045">
+            <Name lang="en">CCR4-NOT transcription complex subunit 3</Name>
+            <Symbol>CNOT3</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">KIAA0691</Synonym>
+              <Synonym lang="en">LENG2</Synonym>
+              <Synonym lang="en">NOT3 (negative regulator of transcription 3, yeast) homolog</Synonym>
+              <Synonym lang="en">NOT3H</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83806">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000088038</Reference>
+              </ExternalReference>
+              <ExternalReference id="79149">
+                <Source>Genatlas</Source>
+                <Reference>CNOT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="79148">
+                <Source>HGNC</Source>
+                <Reference>7879</Reference>
+              </ExternalReference>
+              <ExternalReference id="79150">
+                <Source>OMIM</Source>
+                <Reference>604910</Reference>
+              </ExternalReference>
+              <ExternalReference id="83805">
+                <Source>Reactome</Source>
+                <Reference>O75175</Reference>
+              </ExternalReference>
+              <ExternalReference id="79151">
+                <Source>SwissProt</Source>
+                <Reference>O75175</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25077">
+                <GeneLocus>19q13.42</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23673860[PMID]</SourceOfValidation>
+          <Gene id="22247">
+            <Name lang="en">MLLT10 histone lysine methyltransferase DOT1L cofactor</Name>
+            <Symbol>MLLT10</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">AF10</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="83931">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000078403</Reference>
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+              <ExternalReference id="82596">
+                <Source>Genatlas</Source>
+                <Reference>MLLT10</Reference>
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+              <ExternalReference id="80593">
+                <Source>HGNC</Source>
+                <Reference>16063</Reference>
+              </ExternalReference>
+              <ExternalReference id="82595">
+                <Source>OMIM</Source>
+                <Reference>602409</Reference>
+              </ExternalReference>
+              <ExternalReference id="82597">
+                <Source>SwissProt</Source>
+                <Reference>P55197</Reference>
+              </ExternalReference>
+              <ExternalReference id="143822">
+                <Source>Reactome</Source>
+                <Reference>P55197</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39107">
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17979">
+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23673860[PMID]</SourceOfValidation>
+          <Gene id="22248">
+            <Name lang="en">heterogeneous nuclear ribonucleoprotein H1</Name>
+            <Symbol>HNRNPH1</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hnRNPH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83933">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000169045</Reference>
+              </ExternalReference>
+              <ExternalReference id="80597">
+                <Source>Genatlas</Source>
+                <Reference>HNRNPH1</Reference>
+              </ExternalReference>
+              <ExternalReference id="80595">
+                <Source>HGNC</Source>
+                <Reference>5041</Reference>
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+              <ExternalReference id="80596">
+                <Source>OMIM</Source>
+                <Reference>601035</Reference>
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+              <ExternalReference id="83932">
+                <Source>Reactome</Source>
+                <Reference>P31943</Reference>
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+              <ExternalReference id="80598">
+                <Source>SwissProt</Source>
+                <Reference>P31943</Reference>
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+            </ExternalReferenceList>
+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23673860[PMID]</SourceOfValidation>
+          <Gene id="22249">
+            <Name lang="en">DEAD-box helicase 3 X-linked</Name>
+            <Symbol>DDX3X</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CAP-Rf</Synonym>
+              <Synonym lang="en">DBX</Synonym>
+              <Synonym lang="en">DDX14</Synonym>
+              <Synonym lang="en">HLP2</Synonym>
+              <Synonym lang="en">Helicase-like protein 2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000215301</Reference>
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+              <ExternalReference id="80602">
+                <Source>Genatlas</Source>
+                <Reference>DDX3X</Reference>
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+              <ExternalReference id="80600">
+                <Source>HGNC</Source>
+                <Reference>2745</Reference>
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+              <ExternalReference id="80601">
+                <Source>OMIM</Source>
+                <Reference>300160</Reference>
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+              <ExternalReference id="80603">
+                <Source>SwissProt</Source>
+                <Reference>O00571</Reference>
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+              <ExternalReference id="126426">
+                <Source>Reactome</Source>
+                <Reference>O00571</Reference>
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+              </Locus>
+            </LocusList>
+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="22520">
+            <Name lang="en">phosphatidylinositol binding clathrin assembly protein</Name>
+            <Symbol>PICALM</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">CALM</Synonym>
+              <Synonym lang="en">CLTH</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="84078">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000073921</Reference>
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+              <ExternalReference id="82500">
+                <Source>Genatlas</Source>
+                <Reference>PICALM</Reference>
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+              <ExternalReference id="82498">
+                <Source>HGNC</Source>
+                <Reference>15514</Reference>
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+              <ExternalReference id="82499">
+                <Source>OMIM</Source>
+                <Reference>603025</Reference>
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+              <ExternalReference id="84077">
+                <Source>Reactome</Source>
+                <Reference>Q13492</Reference>
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+              <ExternalReference id="82501">
+                <Source>SwissProt</Source>
+                <Reference>Q13492</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>11q14.2</GeneLocus>
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+          </Gene>
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+            <Name lang="en">Part of a fusion gene in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="14422">
+      <OrphaCode>99849</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99849</ExpertLink>
+      <Name lang="en">Glycogen storage disease due to muscle beta-enolase deficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>11506403[PMID]</SourceOfValidation>
+          <Gene id="15980">
+            <Name lang="en">enolase 3</Name>
+            <Symbol>ENO3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">beta-enolase</Synonym>
+              <Synonym lang="en">muscle enriched enolase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="59933">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000108515</Reference>
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+              <ExternalReference id="37022">
+                <Source>Genatlas</Source>
+                <Reference>ENO3</Reference>
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+              <ExternalReference id="29096">
+                <Source>HGNC</Source>
+                <Reference>3354</Reference>
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+              <ExternalReference id="29095">
+                <Source>OMIM</Source>
+                <Reference>131370</Reference>
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+              <ExternalReference id="59934">
+                <Source>Reactome</Source>
+                <Reference>P13929</Reference>
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+              <ExternalReference id="32992">
+                <Source>SwissProt</Source>
+                <Reference>P13929</Reference>
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+            <LocusList count="1">
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14418">
+      <OrphaCode>99845</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99845</ExpertLink>
+      <Name lang="en">Genetic recurrent myoglobinuria</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16471">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase I</Name>
+            <Symbol>MT-CO1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">COI</Synonym>
+              <Synonym lang="en">COX1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56918">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198804</Reference>
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+              <ExternalReference id="37247">
+                <Source>Genatlas</Source>
+                <Reference>MT-CO1</Reference>
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+              <ExternalReference id="31458">
+                <Source>HGNC</Source>
+                <Reference>7419</Reference>
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+              <ExternalReference id="31457">
+                <Source>OMIM</Source>
+                <Reference>516030</Reference>
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+              <ExternalReference id="56919">
+                <Source>Reactome</Source>
+                <Reference>P00395</Reference>
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+              <ExternalReference id="33536">
+                <Source>SwissProt</Source>
+                <Reference>P00395</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16473">
+            <Name lang="en">mitochondrially encoded cytochrome c oxidase III</Name>
+            <Symbol>MT-CO3</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CO3</Synonym>
+              <Synonym lang="en">COIII</Synonym>
+              <Synonym lang="en">COX3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56749">
+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
+                <Reference>7422</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="56750">
+                <Source>Reactome</Source>
+                <Reference>P00414</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P00414</Reference>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17883">
+            <Name lang="en">lipin 1</Name>
+            <Symbol>LPIN1</Symbol>
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+              <Synonym lang="en">KIAA0188</Synonym>
+              <Synonym lang="en">phosphatidate phosphatase LPIN1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="59931">
+                <Source>Ensembl</Source>
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+                <Source>HGNC</Source>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>Q14693</Reference>
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+                <Source>SwissProt</Source>
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+                <Source>IUPHAR</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14416">
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99843</ExpertLink>
+      <Name lang="en">Leukocyte adhesion deficiency type II</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+          <Gene id="15322">
+            <Name lang="en">solute carrier family 35 member C1</Name>
+            <Symbol>SLC35C1</Symbol>
+            <SynonymList count="2">
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000181830</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SLC35C1</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>1147</Reference>
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+            <Name lang="en">Assessed</Name>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99844</ExpertLink>
+      <Name lang="en">Leukocyte adhesion deficiency type III</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>SwissProt</Source>
+                <Reference>Q86UX7</Reference>
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+                <Source>Reactome</Source>
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+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99853</ExpertLink>
+      <Name lang="en">Ovarioleukodystrophy</Name>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit alpha</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000111361</Reference>
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+                <Reference>3257</Reference>
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+                <Source>OMIM</Source>
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+              <ExternalReference id="59936">
+                <Source>Reactome</Source>
+                <Reference>Q14232</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14232</Reference>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit beta</Name>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
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+                <Reference>P49770</Reference>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]_15136673[PMID]</SourceOfValidation>
+          <Gene id="15922">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit gamma</Name>
+            <Symbol>EIF2B3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF2Bgamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="32935">
+                <Source>SwissProt</Source>
+                <Reference>Q9NR50</Reference>
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+              <ExternalReference id="59939">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070785</Reference>
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+              <ExternalReference id="37011">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B3</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3259</Reference>
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+              <ExternalReference id="28820">
+                <Source>OMIM</Source>
+                <Reference>606273</Reference>
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+              <ExternalReference id="59940">
+                <Source>Reactome</Source>
+                <Reference>Q9NR50</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
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+              </Locus>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]_15136673[PMID]</SourceOfValidation>
+          <Gene id="15923">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit delta</Name>
+            <Symbol>EIF2B4</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZP586J0119</Synonym>
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF2B</Synonym>
+              <Synonym lang="en">EIF2Bdelta</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59941">
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+                <Reference>ENSG00000115211</Reference>
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+              <ExternalReference id="37012">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B4</Reference>
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+              <ExternalReference id="28825">
+                <Source>HGNC</Source>
+                <Reference>3260</Reference>
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+              <ExternalReference id="28824">
+                <Source>OMIM</Source>
+                <Reference>606687</Reference>
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+              <ExternalReference id="59942">
+                <Source>Reactome</Source>
+                <Reference>Q9UI10</Reference>
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+              <ExternalReference id="32936">
+                <Source>SwissProt</Source>
+                <Reference>Q9UI10</Reference>
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+            <LocusList count="1">
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301435[PMID]_15136673[PMID]</SourceOfValidation>
+          <Gene id="15924">
+            <Name lang="en">eukaryotic translation initiation factor 2B subunit epsilon</Name>
+            <Symbol>EIF2B5</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF2Bepsilon</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
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+                <Reference>ENSG00000145191</Reference>
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+              <ExternalReference id="29038">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B5</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3261</Reference>
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+                <Source>OMIM</Source>
+                <Reference>603945</Reference>
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+              <ExternalReference id="59944">
+                <Source>Reactome</Source>
+                <Reference>Q13144</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q13144</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>24808023[PMID]</SourceOfValidation>
+          <Gene id="20267">
+            <Name lang="en">alanyl-tRNA synthetase 2, mitochondrial</Name>
+            <Symbol>AARS2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">KIAA1270</Synonym>
+              <Synonym lang="en">alanine tRNA ligase 2, mitochondrial</Synonym>
+              <Synonym lang="en">bA444E17.1</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58586">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000124608</Reference>
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+              <ExternalReference id="51975">
+                <Source>Genatlas</Source>
+                <Reference>AARS2</Reference>
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+              <ExternalReference id="51973">
+                <Source>HGNC</Source>
+                <Reference>21022</Reference>
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+              <ExternalReference id="51974">
+                <Source>OMIM</Source>
+                <Reference>612035</Reference>
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+              <ExternalReference id="58587">
+                <Source>Reactome</Source>
+                <Reference>Q5JTZ9</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q5JTZ9</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14427">
+      <OrphaCode>99854</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99854</ExpertLink>
+      <Name lang="en">Cree leukoencephalopathy</Name>
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+        <Name lang="en">Clinical subtype</Name>
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+        <Name lang="en">Subtype of disorder</Name>
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+              <Synonym lang="en">EIF-2B</Synonym>
+              <Synonym lang="en">EIF-2Balpha</Synonym>
+              <Synonym lang="en">EIF2BA</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000111361</Reference>
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+              <ExternalReference id="37009">
+                <Source>Genatlas</Source>
+                <Reference>EIF2B1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3257</Reference>
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+              <ExternalReference id="28812">
+                <Source>OMIM</Source>
+                <Reference>606686</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q14232</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q14232</Reference>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit beta</Name>
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+              <Synonym lang="en">EIF-2Bbeta</Synonym>
+              <Synonym lang="en">EIF2B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="37010">
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+                <Reference>EIF2B2</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">EIF-2B</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000070785</Reference>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+            <Name lang="en">eukaryotic translation initiation factor 2B subunit delta</Name>
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+              <Synonym lang="en">EIF2B</Synonym>
+              <Synonym lang="en">EIF2Bdelta</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+                <Source>Reactome</Source>
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+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16273">
+            <Name lang="en">integrin subunit beta 2</Name>
+            <Symbol>ITGB2</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">LFA-1</Synonym>
+              <Synonym lang="en">MAC-1</Synonym>
+              <Synonym lang="en">complement component 3 receptor 3 and 4 subunit</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="30530">
+                <Source>HGNC</Source>
+                <Reference>6155</Reference>
+              </ExternalReference>
+              <ExternalReference id="30529">
+                <Source>OMIM</Source>
+                <Reference>600065</Reference>
+              </ExternalReference>
+              <ExternalReference id="59927">
+                <Source>Reactome</Source>
+                <Reference>P05107</Reference>
+              </ExternalReference>
+              <ExternalReference id="33338">
+                <Source>SwissProt</Source>
+                <Reference>P05107</Reference>
+              </ExternalReference>
+              <ExternalReference id="59926">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000160255</Reference>
+              </ExternalReference>
+              <ExternalReference id="30532">
+                <Source>Genatlas</Source>
+                <Reference>ITGB2</Reference>
+              </ExternalReference>
+              <ExternalReference id="193578">
+                <Source>IUPHAR</Source>
+                <Reference>2456</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="66565">
+                <GeneLocus>21q22.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14384">
+      <OrphaCode>99811</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99811</ExpertLink>
+      <Name lang="en">Neuronal intestinal pseudoobstruction</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17357080[PMID]</SourceOfValidation>
+          <Gene id="16058">
+            <Name lang="en">filamin A</Name>
+            <Symbol>FLNA</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ABP-280</Synonym>
+              <Synonym lang="en">actin binding protein 280</Synonym>
+              <Synonym lang="en">alpha filamin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57957">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196924</Reference>
+              </ExternalReference>
+              <ExternalReference id="29507">
+                <Source>Genatlas</Source>
+                <Reference>FLNA</Reference>
+              </ExternalReference>
+              <ExternalReference id="29505">
+                <Source>HGNC</Source>
+                <Reference>3754</Reference>
+              </ExternalReference>
+              <ExternalReference id="29504">
+                <Source>OMIM</Source>
+                <Reference>300017</Reference>
+              </ExternalReference>
+              <ExternalReference id="57958">
+                <Source>Reactome</Source>
+                <Reference>P21333</Reference>
+              </ExternalReference>
+              <ExternalReference id="33073">
+                <Source>SwissProt</Source>
+                <Reference>P21333</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="8559">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14385">
+      <OrphaCode>99812</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99812</ExpertLink>
+      <Name lang="en">LIG4 syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27169690[PMID]</SourceOfValidation>
+          <Gene id="23795">
+            <Name lang="en">X-ray repair cross complementing 4</Name>
+            <Symbol>XRCC4</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">DNA repair protein XRCC4</Synonym>
+              <Synonym lang="en">X-ray repair, complementing defective, repair in Chinese hamster</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103390">
+                <Source>HGNC</Source>
+                <Reference>12831</Reference>
+              </ExternalReference>
+              <ExternalReference id="103391">
+                <Source>OMIM</Source>
+                <Reference>194363</Reference>
+              </ExternalReference>
+              <ExternalReference id="103392">
+                <Source>Genatlas</Source>
+                <Reference>XRCC4</Reference>
+              </ExternalReference>
+              <ExternalReference id="103393">
+                <Source>SwissProt</Source>
+                <Reference>Q13426</Reference>
+              </ExternalReference>
+              <ExternalReference id="103394">
+                <Source>Reactome</Source>
+                <Reference>Q13426</Reference>
+              </ExternalReference>
+              <ExternalReference id="103395">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152422</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="19973">
+                <GeneLocus>5q14.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>23372718[PMID]</SourceOfValidation>
+          <Gene id="16357">
+            <Name lang="en">DNA ligase 4</Name>
+            <Symbol>LIG4</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DNA joinase</Synonym>
+              <Synonym lang="en">DNA repair enzyme</Synonym>
+              <Synonym lang="en">polydeoxyribonucleotide synthase [ATP] 4</Synonym>
+              <Synonym lang="en">polynucleotide ligase</Synonym>
+              <Synonym lang="en">sealase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="59054">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000174405</Reference>
+              </ExternalReference>
+              <ExternalReference id="30933">
+                <Source>Genatlas</Source>
+                <Reference>LIG4</Reference>
+              </ExternalReference>
+              <ExternalReference id="30931">
+                <Source>HGNC</Source>
+                <Reference>6601</Reference>
+              </ExternalReference>
+              <ExternalReference id="30930">
+                <Source>OMIM</Source>
+                <Reference>601837</Reference>
+              </ExternalReference>
+              <ExternalReference id="59055">
+                <Source>Reactome</Source>
+                <Reference>P49917</Reference>
+              </ExternalReference>
+              <ExternalReference id="33422">
+                <Source>SwissProt</Source>
+                <Reference>P49917</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25095">
+                <GeneLocus>13q33.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14391">
+      <OrphaCode>99818</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99818</ExpertLink>
+      <Name lang="en">Turcot syndrome with polyposis</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301519[PMID]</SourceOfValidation>
+          <Gene id="16443">
+            <Name lang="en">APC regulator of WNT signaling pathway</Name>
+            <Symbol>APC</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">DP2</Synonym>
+              <Synonym lang="en">DP2.5</Synonym>
+              <Synonym lang="en">DP3</Synonym>
+              <Synonym lang="en">PPP1R46</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="56783">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134982</Reference>
+              </ExternalReference>
+              <ExternalReference id="37174">
+                <Source>Genatlas</Source>
+                <Reference>APC</Reference>
+              </ExternalReference>
+              <ExternalReference id="34017">
+                <Source>HGNC</Source>
+                <Reference>583</Reference>
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+              <ExternalReference id="51627">
+                <Source>OMIM</Source>
+                <Reference>611731</Reference>
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+              <ExternalReference id="56784">
+                <Source>Reactome</Source>
+                <Reference>P25054</Reference>
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+              <ExternalReference id="33503">
+                <Source>SwissProt</Source>
+                <Reference>P25054</Reference>
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+              <Locus id="25221">
+                <GeneLocus>5q22.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="14392">
+      <OrphaCode>99819</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99819</ExpertLink>
+      <Name lang="en">Familial gestational hyperthyroidism</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9854118[PMID]</SourceOfValidation>
+          <Gene id="15670">
+            <Name lang="en">thyroid stimulating hormone receptor</Name>
+            <Symbol>TSHR</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">LGR3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58497">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165409</Reference>
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+              <ExternalReference id="27637">
+                <Source>Genatlas</Source>
+                <Reference>TSHR</Reference>
+              </ExternalReference>
+              <ExternalReference id="27639">
+                <Source>HGNC</Source>
+                <Reference>12373</Reference>
+              </ExternalReference>
+              <ExternalReference id="82847">
+                <Source>IUPHAR</Source>
+                <Reference>255</Reference>
+              </ExternalReference>
+              <ExternalReference id="27638">
+                <Source>OMIM</Source>
+                <Reference>603372</Reference>
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+              <ExternalReference id="58498">
+                <Source>Reactome</Source>
+                <Reference>P16473</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P16473</Reference>
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+              <Locus id="7843">
+                <GeneLocus>14q24-q31</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="14369">
+      <OrphaCode>99796</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99796</ExpertLink>
+      <Name lang="en">Subcortical band heterotopia</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15854">
+            <Name lang="en">doublecortin</Name>
+            <Symbol>DCX</Symbol>
+            <SynonymList count="6">
+              <Synonym lang="en">DBCN</Synonym>
+              <Synonym lang="en">DC</Synonym>
+              <Synonym lang="en">LISX</Synonym>
+              <Synonym lang="en">SCLH</Synonym>
+              <Synonym lang="en">XLIS</Synonym>
+              <Synonym lang="en">doublecortex</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58144">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077279</Reference>
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+              <ExternalReference id="28506">
+                <Source>Genatlas</Source>
+                <Reference>DCX</Reference>
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+                <Reference>2714</Reference>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>20301752[PMID]</SourceOfValidation>
+          <Gene id="16604">
+            <Name lang="en">platelet activating factor acetylhydrolase 1b regulatory subunit 1</Name>
+            <Symbol>PAFAH1B1</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">LIS1</Synonym>
+              <Synonym lang="en">NudF</Synonym>
+              <Synonym lang="en">PAFAH</Synonym>
+              <Synonym lang="en">lissencephaly-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000007168</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>PAFAH1B1</Reference>
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+                <Reference>8574</Reference>
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+                <Source>Reactome</Source>
+                <Reference>P43034</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P43034</Reference>
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+          <SourceOfValidation>24859200[PMID]</SourceOfValidation>
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+            <Name lang="en">EMAP like 1</Name>
+            <Symbol>EML1</Symbol>
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+                <Source>Ensembl</Source>
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+      <Name lang="en">Oligodontia</Name>
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+        <Name lang="en">Disorder</Name>
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+          <Gene id="16822">
+            <Name lang="en">small ubiquitin like modifier 1</Name>
+            <Symbol>SUMO1</Symbol>
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+              <Synonym lang="en">OFC10</Synonym>
+              <Synonym lang="en">PIC1</Synonym>
+              <Synonym lang="en">SMT3C</Synonym>
+              <Synonym lang="en">SMT3H3</Synonym>
+              <Synonym lang="en">SUMO-1</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Reference>ENSG00000116030</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SUMO1</Reference>
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+                <Reference>12502</Reference>
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+                <Source>Reactome</Source>
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+                <Reference>P63165</Reference>
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+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15346">
+            <Name lang="en">axin 2</Name>
+            <Symbol>AXIN2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">DKFZp781B0869</Synonym>
+              <Synonym lang="en">MGC126582</Synonym>
+              <Synonym lang="en">axil</Synonym>
+              <Synonym lang="en">conductin</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="58159">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168646</Reference>
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+              <ExternalReference id="26080">
+                <Source>Genatlas</Source>
+                <Reference>AXIN2</Reference>
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+              <ExternalReference id="26078">
+                <Source>HGNC</Source>
+                <Reference>904</Reference>
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+              <ExternalReference id="26077">
+                <Source>OMIM</Source>
+                <Reference>604025</Reference>
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+              <ExternalReference id="87964">
+                <Source>Reactome</Source>
+                <Reference>Q9Y2T1</Reference>
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+              <ExternalReference id="33903">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2T1</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17q24.1</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15908">
+            <Name lang="en">ectodysplasin A</Name>
+            <Symbol>EDA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">ED1-A1</Synonym>
+              <Synonym lang="en">ED1-A2</Synonym>
+              <Synonym lang="en">EDA-A1</Synonym>
+              <Synonym lang="en">EDA-A2</Synonym>
+              <Synonym lang="en">EDA1</Synonym>
+              <Synonym lang="en">HED</Synonym>
+              <Synonym lang="en">XHED</Synonym>
+              <Synonym lang="en">XLHED</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="56945">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158813</Reference>
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+              <ExternalReference id="36999">
+                <Source>Genatlas</Source>
+                <Reference>EDA</Reference>
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+                <Source>OMIM</Source>
+                <Reference>300451</Reference>
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+              <ExternalReference id="97206">
+                <Source>Reactome</Source>
+                <Reference>Q92838</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q92838</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15910">
+            <Name lang="en">EDAR associated death domain</Name>
+            <Symbol>EDARADD</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58754">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186197</Reference>
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+                <Reference>14341</Reference>
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+                <Source>OMIM</Source>
+                <Reference>606603</Reference>
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+              <ExternalReference id="97208">
+                <Source>Reactome</Source>
+                <Reference>Q8WWZ3</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q8WWZ3</Reference>
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+                <GeneLocus>1q42.3-q43</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16046">
+            <Name lang="en">fibroblast growth factor receptor 1</Name>
+            <Symbol>FGFR1</Symbol>
+            <SynonymList count="10">
+              <Synonym lang="en">BFGFR</Synonym>
+              <Synonym lang="en">CD331</Synonym>
+              <Synonym lang="en">CEK</Synonym>
+              <Synonym lang="en">FLG</Synonym>
+              <Synonym lang="en">H2</Synonym>
+              <Synonym lang="en">H3</Synonym>
+              <Synonym lang="en">H4</Synonym>
+              <Synonym lang="en">H5</Synonym>
+              <Synonym lang="en">N-SAM</Synonym>
+              <Synonym lang="en">Pfeiffer syndrome</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="7">
+              <ExternalReference id="58256">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000077782</Reference>
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+              <ExternalReference id="29433">
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+                <Reference>FGFR1</Reference>
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+                <Source>HGNC</Source>
+                <Reference>3688</Reference>
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+                <Source>IUPHAR</Source>
+                <Reference>1808</Reference>
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+                <Source>OMIM</Source>
+                <Reference>136350</Reference>
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+              <ExternalReference id="58257">
+                <Source>Reactome</Source>
+                <Reference>P11362</Reference>
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+                <Reference>P11362</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="16269">
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+              <Synonym lang="en">OFC6</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117595</Reference>
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+              <ExternalReference id="30512">
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+                <Source>Reactome</Source>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+            <Name lang="en">Assessed</Name>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Reactome</Source>
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+        <DisorderGeneAssociation>
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+              <Synonym lang="en">PKBG</Synonym>
+              <Synonym lang="en">PRKBG</Synonym>
+              <Synonym lang="en">RAC-gamma</Synonym>
+              <Synonym lang="en">protein kinase B, gamma</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83369">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000117020</Reference>
+              </ExternalReference>
+              <ExternalReference id="61899">
+                <Source>Genatlas</Source>
+                <Reference>AKT3</Reference>
+              </ExternalReference>
+              <ExternalReference id="61897">
+                <Source>HGNC</Source>
+                <Reference>393</Reference>
+              </ExternalReference>
+              <ExternalReference id="83370">
+                <Source>IUPHAR</Source>
+                <Reference>2286</Reference>
+              </ExternalReference>
+              <ExternalReference id="69936">
+                <Source>OMIM</Source>
+                <Reference>611223</Reference>
+              </ExternalReference>
+              <ExternalReference id="83368">
+                <Source>Reactome</Source>
+                <Reference>Q9Y243</Reference>
+              </ExternalReference>
+              <ExternalReference id="61900">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y243</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="21015">
+                <GeneLocus>1q43-q44</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32140648[PMID]</SourceOfValidation>
+          <Gene id="23236">
+            <Name lang="en">mechanistic target of rapamycin kinase</Name>
+            <Symbol>MTOR</Symbol>
+            <SynonymList count="11">
+              <Synonym lang="en">FK506 binding protein 12-rapamycin associated protein 2</Synonym>
+              <Synonym lang="en">FKBP-rapamycin associated protein</Synonym>
+              <Synonym lang="en">FKBP12-rapamycin complex-associated protein 1</Synonym>
+              <Synonym lang="en">FLJ44809</Synonym>
+              <Synonym lang="en">RAFT1</Synonym>
+              <Synonym lang="en">RAPT1</Synonym>
+              <Synonym lang="en">dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)</Synonym>
+              <Synonym lang="en">mammalian target of rapamycin</Synonym>
+              <Synonym lang="en">rapamycin and FKBP12 target 1</Synonym>
+              <Synonym lang="en">rapamycin associated protein FRAP2</Synonym>
+              <Synonym lang="en">rapamycin target protein</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="95701">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198793</Reference>
+              </ExternalReference>
+              <ExternalReference id="95698">
+                <Source>Genatlas</Source>
+                <Reference>MTOR</Reference>
+              </ExternalReference>
+              <ExternalReference id="95696">
+                <Source>HGNC</Source>
+                <Reference>3942</Reference>
+              </ExternalReference>
+              <ExternalReference id="95702">
+                <Source>IUPHAR</Source>
+                <Reference>2109</Reference>
+              </ExternalReference>
+              <ExternalReference id="95697">
+                <Source>OMIM</Source>
+                <Reference>601231</Reference>
+              </ExternalReference>
+              <ExternalReference id="95700">
+                <Source>Reactome</Source>
+                <Reference>P42345</Reference>
+              </ExternalReference>
+              <ExternalReference id="95699">
+                <Source>SwissProt</Source>
+                <Reference>P42345</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22931">
+                <GeneLocus>1p36.22</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17955">
+            <Name lang="en">Disease-causing somatic mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14376">
+      <OrphaCode>99803</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99803</ExpertLink>
+      <Name lang="en">Haddad syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15089">
+            <Name lang="en">paired like homeobox 2B</Name>
+            <Symbol>PHOX2B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NBPhox</Synonym>
+              <Synonym lang="en">Phox2b</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="37311">
+                <Source>Genatlas</Source>
+                <Reference>PHOX2B</Reference>
+              </ExternalReference>
+              <ExternalReference id="24855">
+                <Source>HGNC</Source>
+                <Reference>9143</Reference>
+              </ExternalReference>
+              <ExternalReference id="24854">
+                <Source>OMIM</Source>
+                <Reference>603851</Reference>
+              </ExternalReference>
+              <ExternalReference id="32780">
+                <Source>SwissProt</Source>
+                <Reference>Q99453</Reference>
+              </ExternalReference>
+              <ExternalReference id="57372">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000109132</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="6751">
+                <GeneLocus>4p13</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>9565426[PMID]</SourceOfValidation>
+          <Gene id="15200">
+            <Name lang="en">ret proto-oncogene</Name>
+            <Symbol>RET</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">CDHF12</Synonym>
+              <Synonym lang="en">CDHR16</Synonym>
+              <Synonym lang="en">PTC</Synonym>
+              <Synonym lang="en">RET receptor tyrosine kinase</Synonym>
+              <Synonym lang="en">RET51</Synonym>
+              <Synonym lang="en">cadherin-related family member 16</Synonym>
+              <Synonym lang="en">rearranged during transfection</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57517">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165731</Reference>
+              </ExternalReference>
+              <ExternalReference id="25384">
+                <Source>Genatlas</Source>
+                <Reference>RET</Reference>
+              </ExternalReference>
+              <ExternalReference id="25386">
+                <Source>HGNC</Source>
+                <Reference>9967</Reference>
+              </ExternalReference>
+              <ExternalReference id="82759">
+                <Source>IUPHAR</Source>
+                <Reference>2185</Reference>
+              </ExternalReference>
+              <ExternalReference id="25385">
+                <Source>OMIM</Source>
+                <Reference>164761</Reference>
+              </ExternalReference>
+              <ExternalReference id="33724">
+                <Source>SwissProt</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+              <ExternalReference id="100290">
+                <Source>Reactome</Source>
+                <Reference>P07949</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24113">
+                <GeneLocus>10q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="17395">
+            <Name lang="en">achaete-scute family bHLH transcription factor 1</Name>
+            <Symbol>ASCL1</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">ASH1</Synonym>
+              <Synonym lang="en">HASH1</Synonym>
+              <Synonym lang="en">bHLHa46</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58269">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000139352</Reference>
+              </ExternalReference>
+              <ExternalReference id="37237">
+                <Source>Genatlas</Source>
+                <Reference>ASCL1</Reference>
+              </ExternalReference>
+              <ExternalReference id="37239">
+                <Source>HGNC</Source>
+                <Reference>738</Reference>
+              </ExternalReference>
+              <ExternalReference id="37238">
+                <Source>OMIM</Source>
+                <Reference>100790</Reference>
+              </ExternalReference>
+              <ExternalReference id="37240">
+                <Source>SwissProt</Source>
+                <Reference>P50553</Reference>
+              </ExternalReference>
+              <ExternalReference id="143559">
+                <Source>Reactome</Source>
+                <Reference>P50553</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="38819">
+                <GeneLocus>12q23.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14379">
+      <OrphaCode>99806</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99806</ExpertLink>
+      <Name lang="en">Oculootodental syndrome</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17656375[PMID]</SourceOfValidation>
+          <Gene id="17362">
+            <Name lang="en">fibroblast growth factor 3</Name>
+            <Symbol>FGF3</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">HBGF-3</Synonym>
+              <Synonym lang="en">INT-2 proto-oncogene protein</Synonym>
+              <Synonym lang="en">V-INT2 murine mammary tumor virus integration site oncogene homolog</Synonym>
+              <Synonym lang="en">murine mammary tumor virus integration site 2, mouse</Synonym>
+              <Synonym lang="en">oncogene INT2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="58282">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186895</Reference>
+              </ExternalReference>
+              <ExternalReference id="37039">
+                <Source>Genatlas</Source>
+                <Reference>FGF3</Reference>
+              </ExternalReference>
+              <ExternalReference id="37041">
+                <Source>HGNC</Source>
+                <Reference>3681</Reference>
+              </ExternalReference>
+              <ExternalReference id="37040">
+                <Source>OMIM</Source>
+                <Reference>164950</Reference>
+              </ExternalReference>
+              <ExternalReference id="58283">
+                <Source>Reactome</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+              <ExternalReference id="37042">
+                <Source>SwissProt</Source>
+                <Reference>P11487</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="23053">
+                <GeneLocus>11q13.3</GeneLocus>
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+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17656375[PMID]</SourceOfValidation>
+          <Gene id="21426">
+            <Name lang="en">Fas associated via death domain</Name>
+            <Symbol>FADD</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">Fas-associating death domain-containing protein</Synonym>
+              <Synonym lang="en">Fas-associating protein with death domain</Synonym>
+              <Synonym lang="en">GIG3</Synonym>
+              <Synonym lang="en">Growth-inhibiting gene 3 protein</Synonym>
+              <Synonym lang="en">MORT1</Synonym>
+              <Synonym lang="en">Mediator of receptor-induced toxicity</Synonym>
+              <Synonym lang="en">growth-inhibiting gene 3 protein</Synonym>
+              <Synonym lang="en">mediator of receptor-induced toxicity</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="83490">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000168040</Reference>
+              </ExternalReference>
+              <ExternalReference id="71689">
+                <Source>Genatlas</Source>
+                <Reference>FADD</Reference>
+              </ExternalReference>
+              <ExternalReference id="71687">
+                <Source>HGNC</Source>
+                <Reference>3573</Reference>
+              </ExternalReference>
+              <ExternalReference id="71688">
+                <Source>OMIM</Source>
+                <Reference>602457</Reference>
+              </ExternalReference>
+              <ExternalReference id="83489">
+                <Source>Reactome</Source>
+                <Reference>Q13158</Reference>
+              </ExternalReference>
+              <ExternalReference id="71690">
+                <Source>SwissProt</Source>
+                <Reference>Q13158</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="12121">
+                <GeneLocus>11q13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17985">
+            <Name lang="en">Role in the phenotype of</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14380">
+      <OrphaCode>99807</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99807</ExpertLink>
+      <Name lang="en">PEHO-like syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>26917597[PMID]</SourceOfValidation>
+          <Gene id="23766">
+            <Name lang="en">coiled-coil domain containing 88A</Name>
+            <Symbol>CCDC88A</Symbol>
+            <SynonymList count="9">
+              <Synonym lang="en">APE</Synonym>
+              <Synonym lang="en">Akt-phosphorylation enhancer</Synonym>
+              <Synonym lang="en">FLJ10392</Synonym>
+              <Synonym lang="en">GIV</Synonym>
+              <Synonym lang="en">GRDN</Synonym>
+              <Synonym lang="en">Galpha-interacting vesicle-associated protein</Synonym>
+              <Synonym lang="en">HkRP1</Synonym>
+              <Synonym lang="en">girders of actin filaments</Synonym>
+              <Synonym lang="en">girdin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="101281">
+                <Source>SwissProt</Source>
+                <Reference>Q3V6T2</Reference>
+              </ExternalReference>
+              <ExternalReference id="101278">
+                <Source>HGNC</Source>
+                <Reference>25523</Reference>
+              </ExternalReference>
+              <ExternalReference id="101279">
+                <Source>OMIM</Source>
+                <Reference>609736</Reference>
+              </ExternalReference>
+              <ExternalReference id="101280">
+                <Source>Genatlas</Source>
+                <Reference>CCDC88A</Reference>
+              </ExternalReference>
+              <ExternalReference id="101282">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000115355</Reference>
+              </ExternalReference>
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+              <Locus id="25277">
+                <GeneLocus>2p16.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="14383">
+      <OrphaCode>99810</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99810</ExpertLink>
+      <Name lang="en">Familial porencephaly</Name>
+      <DisorderType id="21443">
+        <Name lang="en">Etiological subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15771">
+            <Name lang="en">collagen type IV alpha 1 chain</Name>
+            <Symbol>COL4A1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="58311">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000187498</Reference>
+              </ExternalReference>
+              <ExternalReference id="28109">
+                <Source>Genatlas</Source>
+                <Reference>COL4A1</Reference>
+              </ExternalReference>
+              <ExternalReference id="28111">
+                <Source>HGNC</Source>
+                <Reference>2202</Reference>
+              </ExternalReference>
+              <ExternalReference id="28110">
+                <Source>OMIM</Source>
+                <Reference>120130</Reference>
+              </ExternalReference>
+              <ExternalReference id="58312">
+                <Source>Reactome</Source>
+                <Reference>P02462</Reference>
+              </ExternalReference>
+              <ExternalReference id="32743">
+                <Source>SwissProt</Source>
+                <Reference>P02462</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="8019">
+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="20792">
+            <Name lang="en">collagen type IV alpha 2 chain</Name>
+            <Symbol>COL4A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Canstatin</Synonym>
+              <Synonym lang="en">Collagen type IV alpha 2</Synonym>
+              <Synonym lang="en">DKFZp686I14213</Synonym>
+              <Synonym lang="en">FLJ22259</Synonym>
+              <Synonym lang="en">canstatin</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="60696">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000134871</Reference>
+              </ExternalReference>
+              <ExternalReference id="60694">
+                <Source>Genatlas</Source>
+                <Reference>COL4A2</Reference>
+              </ExternalReference>
+              <ExternalReference id="60692">
+                <Source>HGNC</Source>
+                <Reference>2203</Reference>
+              </ExternalReference>
+              <ExternalReference id="60693">
+                <Source>OMIM</Source>
+                <Reference>120090</Reference>
+              </ExternalReference>
+              <ExternalReference id="83242">
+                <Source>Reactome</Source>
+                <Reference>P08572</Reference>
+              </ExternalReference>
+              <ExternalReference id="60695">
+                <Source>SwissProt</Source>
+                <Reference>P08572</Reference>
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+              <Locus id="11789">
+                <GeneLocus>13q34</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="14362">
+      <OrphaCode>99789</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99789</ExpertLink>
+      <Name lang="en">Dentin dysplasia type I</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="3">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27680507[PMID]</SourceOfValidation>
+          <Gene id="25320">
+            <Name lang="en">ssu-2 homolog</Name>
+            <Symbol>SSUH2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">fls485</Synonym>
+              <Synonym lang="en">ssu-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="141212">
+                <Source>HGNC</Source>
+                <Reference>24809</Reference>
+              </ExternalReference>
+              <ExternalReference id="141213">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000125046</Reference>
+              </ExternalReference>
+              <ExternalReference id="141214">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y2M2</Reference>
+              </ExternalReference>
+              <ExternalReference id="141215">
+                <Source>OMIM</Source>
+                <Reference>617479</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36983">
+                <GeneLocus>3p25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15896">
+            <Name lang="en">dentin sialophosphoprotein</Name>
+            <Symbol>DSPP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DMP3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28699">
+                <Source>HGNC</Source>
+                <Reference>3054</Reference>
+              </ExternalReference>
+              <ExternalReference id="28698">
+                <Source>OMIM</Source>
+                <Reference>125485</Reference>
+              </ExternalReference>
+              <ExternalReference id="82886">
+                <Source>Reactome</Source>
+                <Reference>Q9NZW4</Reference>
+              </ExternalReference>
+              <ExternalReference id="32907">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZW4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152591</Reference>
+              </ExternalReference>
+              <ExternalReference id="28697">
+                <Source>Genatlas</Source>
+                <Reference>DSPP</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24897">
+                <GeneLocus>4q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27247351[PMID]</SourceOfValidation>
+          <Gene id="25194">
+            <Name lang="en">vacuolar protein sorting 4 homolog B</Name>
+            <Symbol>VPS4B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SKD1B</Synonym>
+              <Synonym lang="en">VPS4-2</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135507">
+                <Source>HGNC</Source>
+                <Reference>10895</Reference>
+              </ExternalReference>
+              <ExternalReference id="135508">
+                <Source>OMIM</Source>
+                <Reference>609983</Reference>
+              </ExternalReference>
+              <ExternalReference id="135509">
+                <Source>Genatlas</Source>
+                <Reference>VPS4B</Reference>
+              </ExternalReference>
+              <ExternalReference id="135510">
+                <Source>SwissProt</Source>
+                <Reference>O75351</Reference>
+              </ExternalReference>
+              <ExternalReference id="135511">
+                <Source>Reactome</Source>
+                <Reference>O75351</Reference>
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+              <ExternalReference id="135512">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119541</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="36381">
+                <GeneLocus>18q21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14364">
+      <OrphaCode>99791</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99791</ExpertLink>
+      <Name lang="en">Dentin dysplasia type II</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation/>
+          <Gene id="15896">
+            <Name lang="en">dentin sialophosphoprotein</Name>
+            <Symbol>DSPP</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">DMP3</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="28699">
+                <Source>HGNC</Source>
+                <Reference>3054</Reference>
+              </ExternalReference>
+              <ExternalReference id="28698">
+                <Source>OMIM</Source>
+                <Reference>125485</Reference>
+              </ExternalReference>
+              <ExternalReference id="82886">
+                <Source>Reactome</Source>
+                <Reference>Q9NZW4</Reference>
+              </ExternalReference>
+              <ExternalReference id="32907">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZW4</Reference>
+              </ExternalReference>
+              <ExternalReference id="58097">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152591</Reference>
+              </ExternalReference>
+              <ExternalReference id="28697">
+                <Source>Genatlas</Source>
+                <Reference>DSPP</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="24897">
+                <GeneLocus>4q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14345">
+      <OrphaCode>99772</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99772</ExpertLink>
+      <Name lang="en">Cleft velum</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27018472[PMID]_27018475[PMID]</SourceOfValidation>
+          <Gene id="22597">
+            <Name lang="en">grainyhead like transcription factor 3</Name>
+            <Symbol>GRHL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SOM</Synonym>
+              <Synonym lang="en">sister-of-mammalian grainyhead</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143939">
+                <Source>Reactome</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+              <ExternalReference id="85387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158055</Reference>
+              </ExternalReference>
+              <ExternalReference id="85232">
+                <Source>Genatlas</Source>
+                <Reference>GRHL3</Reference>
+              </ExternalReference>
+              <ExternalReference id="85230">
+                <Source>HGNC</Source>
+                <Reference>25839</Reference>
+              </ExternalReference>
+              <ExternalReference id="85231">
+                <Source>OMIM</Source>
+                <Reference>608317</Reference>
+              </ExternalReference>
+              <ExternalReference id="85233">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39345">
+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17468296[PMID]</SourceOfValidation>
+          <Gene id="25118">
+            <Name lang="en">ubiquitin B</Name>
+            <Symbol>UBB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ25987</Synonym>
+              <Synonym lang="en">MGC8385</Synonym>
+              <Synonym lang="en">polyubiquitin B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135083">
+                <Source>OMIM</Source>
+                <Reference>191339</Reference>
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+              <ExternalReference id="135087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170315</Reference>
+              </ExternalReference>
+              <ExternalReference id="135082">
+                <Source>HGNC</Source>
+                <Reference>12463</Reference>
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+              <ExternalReference id="135084">
+                <Source>Genatlas</Source>
+                <Reference>UBB</Reference>
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+              <ExternalReference id="135085">
+                <Source>SwissProt</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
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+                <Source>Reactome</Source>
+                <Reference>P0CG47</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>17p11.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="18273">
+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="14344">
+      <OrphaCode>99771</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=99771</ExpertLink>
+      <Name lang="en">Bifid uvula</Name>
+      <DisorderType id="21415">
+        <Name lang="en">Morphological anomaly</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="2">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>17468296[PMID]</SourceOfValidation>
+          <Gene id="25118">
+            <Name lang="en">ubiquitin B</Name>
+            <Symbol>UBB</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">FLJ25987</Synonym>
+              <Synonym lang="en">MGC8385</Synonym>
+              <Synonym lang="en">polyubiquitin B</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="135083">
+                <Source>OMIM</Source>
+                <Reference>191339</Reference>
+              </ExternalReference>
+              <ExternalReference id="135087">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000170315</Reference>
+              </ExternalReference>
+              <ExternalReference id="135082">
+                <Source>HGNC</Source>
+                <Reference>12463</Reference>
+              </ExternalReference>
+              <ExternalReference id="135084">
+                <Source>Genatlas</Source>
+                <Reference>UBB</Reference>
+              </ExternalReference>
+              <ExternalReference id="135085">
+                <Source>SwissProt</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
+              <ExternalReference id="135086">
+                <Source>Reactome</Source>
+                <Reference>P0CG47</Reference>
+              </ExternalReference>
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+            <Name lang="en">Candidate gene tested in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17997">
+            <Name lang="en">Not yet assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27018472[PMID]_27018475[PMID]</SourceOfValidation>
+          <Gene id="22597">
+            <Name lang="en">grainyhead like transcription factor 3</Name>
+            <Symbol>GRHL3</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">SOM</Synonym>
+              <Synonym lang="en">sister-of-mammalian grainyhead</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="143939">
+                <Source>Reactome</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
+              <ExternalReference id="85387">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000158055</Reference>
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+              <ExternalReference id="85232">
+                <Source>Genatlas</Source>
+                <Reference>GRHL3</Reference>
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+              <ExternalReference id="85230">
+                <Source>HGNC</Source>
+                <Reference>25839</Reference>
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+              <ExternalReference id="85231">
+                <Source>OMIM</Source>
+                <Reference>608317</Reference>
+              </ExternalReference>
+              <ExternalReference id="85233">
+                <Source>SwissProt</Source>
+                <Reference>Q8TE85</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="39345">
+                <GeneLocus>1p36.11</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17961">
+            <Name lang="en">Major susceptibility factor in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
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+    <Disorder id="31580">
+      <OrphaCode>631073</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631073</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 82</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31637422[PMID]</SourceOfValidation>
+          <Gene id="30151">
+            <Name lang="en">phosphate cytidylyltransferase 2, ethanolamine</Name>
+            <Symbol>PCYT2</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">CTP:phosphoethanolamine cytidylyltransferase</Synonym>
+              <Synonym lang="en">ET</Synonym>
+              <Synonym lang="en">ethanolamine-phosphate cytidylyltransferase:</Synonym>
+              <Synonym lang="en">phosphorylethanolamine transferase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189715">
+                <Source>HGNC</Source>
+                <Reference>8756</Reference>
+              </ExternalReference>
+              <ExternalReference id="192969">
+                <Source>OMIM</Source>
+                <Reference>602679</Reference>
+              </ExternalReference>
+              <ExternalReference id="192968">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185813</Reference>
+              </ExternalReference>
+              <ExternalReference id="201412">
+                <Source>SwissProt</Source>
+                <Reference>Q99447</Reference>
+              </ExternalReference>
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+              <Locus id="81799">
+                <GeneLocus>17q25.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="31581">
+      <OrphaCode>631076</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631076</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 83</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>33188300[PMID]</SourceOfValidation>
+          <Gene id="30681">
+            <Name lang="en">4-hydroxyphenylpyruvate dioxygenase like</Name>
+            <Symbol>HPDL</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="200320">
+                <Source>HGNC</Source>
+                <Reference>28242</Reference>
+              </ExternalReference>
+              <ExternalReference id="200927">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000186603</Reference>
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+              <ExternalReference id="200928">
+                <Source>OMIM</Source>
+                <Reference>618994</Reference>
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+              <ExternalReference id="200929">
+                <Source>SwissProt</Source>
+                <Reference>Q96IR7</Reference>
+              </ExternalReference>
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+                <GeneLocus>1p34.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="31582">
+      <OrphaCode>631079</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631079</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 84</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34415322[PMID]</SourceOfValidation>
+          <Gene id="23283">
+            <Name lang="en">phosphatidylinositol 4-kinase alpha</Name>
+            <Symbol>PI4KA</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">PI4K-ALPHA</Synonym>
+              <Synonym lang="en">phosphatidylinositol 4-kinase III alpha</Synonym>
+              <Synonym lang="en">phosphatidylinositol 4-kinase IIIa</Synonym>
+              <Synonym lang="en">pi4K230</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="96012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000241973</Reference>
+              </ExternalReference>
+              <ExternalReference id="96009">
+                <Source>Genatlas</Source>
+                <Reference>PI4KA</Reference>
+              </ExternalReference>
+              <ExternalReference id="96007">
+                <Source>HGNC</Source>
+                <Reference>8983</Reference>
+              </ExternalReference>
+              <ExternalReference id="96013">
+                <Source>IUPHAR</Source>
+                <Reference>2148</Reference>
+              </ExternalReference>
+              <ExternalReference id="96008">
+                <Source>OMIM</Source>
+                <Reference>600286</Reference>
+              </ExternalReference>
+              <ExternalReference id="96011">
+                <Source>Reactome</Source>
+                <Reference>P42356</Reference>
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+              <ExternalReference id="96010">
+                <Source>SwissProt</Source>
+                <Reference>P42356</Reference>
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+                <GeneLocus>22q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31583">
+      <OrphaCode>631082</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631082</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 85</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31636353[PMID]</SourceOfValidation>
+          <Gene id="24863">
+            <Name lang="en">ring finger protein 170</Name>
+            <Symbol>RNF170</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">ADSA</Synonym>
+              <Synonym lang="en">DKFZP564A022</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="133127">
+                <Source>SwissProt</Source>
+                <Reference>Q96K19</Reference>
+              </ExternalReference>
+              <ExternalReference id="133727">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120925</Reference>
+              </ExternalReference>
+              <ExternalReference id="131680">
+                <Source>HGNC</Source>
+                <Reference>25358</Reference>
+              </ExternalReference>
+              <ExternalReference id="132407">
+                <Source>OMIM</Source>
+                <Reference>614649</Reference>
+              </ExternalReference>
+              <ExternalReference id="144241">
+                <Source>Genatlas</Source>
+                <Reference>RNF170</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39923">
+                <GeneLocus>8p11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31579">
+      <OrphaCode>631068</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631068</ExpertLink>
+      <Name lang="en">Autosomal dominant spastic paraplegia type 80</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30929741[PMID]</SourceOfValidation>
+          <Gene id="30152">
+            <Name lang="en">ubiquitin associated protein 1</Name>
+            <Symbol>UBAP1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="189716">
+                <Source>HGNC</Source>
+                <Reference>12461</Reference>
+              </ExternalReference>
+              <ExternalReference id="192971">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165006</Reference>
+              </ExternalReference>
+              <ExternalReference id="192972">
+                <Source>OMIM</Source>
+                <Reference>609787</Reference>
+              </ExternalReference>
+              <ExternalReference id="201413">
+                <Source>SwissProt</Source>
+                <Reference>Q9NZ09</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="81801">
+                <GeneLocus>9p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31591">
+      <OrphaCode>631106</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631106</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 49</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35310830[PMID]</SourceOfValidation>
+          <Gene id="23881">
+            <Name lang="en">sterile alpha motif domain containing 9 like</Name>
+            <Symbol>SAMD9L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ39885</Synonym>
+              <Synonym lang="en">KIAA2005</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="103838">
+                <Source>HGNC</Source>
+                <Reference>1349</Reference>
+              </ExternalReference>
+              <ExternalReference id="103839">
+                <Source>OMIM</Source>
+                <Reference>611170</Reference>
+              </ExternalReference>
+              <ExternalReference id="103840">
+                <Source>Genatlas</Source>
+                <Reference>SAMD9L</Reference>
+              </ExternalReference>
+              <ExternalReference id="103841">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVG5</Reference>
+              </ExternalReference>
+              <ExternalReference id="103842">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177409</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="20221">
+                <GeneLocus>7q21.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31590">
+      <OrphaCode>631103</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631103</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 48</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30381368[PMID]</SourceOfValidation>
+          <Gene id="22673">
+            <Name lang="en">STIP1 homology and U-box containing protein 1</Name>
+            <Symbol>STUB1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CHIP</Synonym>
+              <Synonym lang="en">HSPABP2</Synonym>
+              <Synonym lang="en">NY-CO-7</Synonym>
+              <Synonym lang="en">SDCCAG7</Synonym>
+              <Synonym lang="en">UBOX1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="88028">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000103266</Reference>
+              </ExternalReference>
+              <ExternalReference id="87814">
+                <Source>Genatlas</Source>
+                <Reference>STUB1</Reference>
+              </ExternalReference>
+              <ExternalReference id="87812">
+                <Source>HGNC</Source>
+                <Reference>11427</Reference>
+              </ExternalReference>
+              <ExternalReference id="87813">
+                <Source>OMIM</Source>
+                <Reference>607207</Reference>
+              </ExternalReference>
+              <ExternalReference id="88027">
+                <Source>Reactome</Source>
+                <Reference>Q9UNE7</Reference>
+              </ExternalReference>
+              <ExternalReference id="87815">
+                <Source>SwissProt</Source>
+                <Reference>Q9UNE7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="13081">
+                <GeneLocus>16p13.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31588">
+      <OrphaCode>631095</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631095</ExpertLink>
+      <Name lang="en">Spinocerebellar ataxia type 44</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>28886343[PMID]</SourceOfValidation>
+          <Gene id="21875">
+            <Name lang="en">glutamate metabotropic receptor 1</Name>
+            <Symbol>GRM1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">GPRC1A</Synonym>
+              <Synonym lang="en">MGLUR1</Synonym>
+              <Synonym lang="en">PPP1R85</Synonym>
+              <Synonym lang="en">mGlu1</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 85</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="83676">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000152822</Reference>
+              </ExternalReference>
+              <ExternalReference id="77437">
+                <Source>Genatlas</Source>
+                <Reference>GRM1</Reference>
+              </ExternalReference>
+              <ExternalReference id="77435">
+                <Source>HGNC</Source>
+                <Reference>4593</Reference>
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+              <ExternalReference id="83677">
+                <Source>IUPHAR</Source>
+                <Reference>289</Reference>
+              </ExternalReference>
+              <ExternalReference id="77436">
+                <Source>OMIM</Source>
+                <Reference>604473</Reference>
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+              <ExternalReference id="83675">
+                <Source>Reactome</Source>
+                <Reference>Q13255</Reference>
+              </ExternalReference>
+              <ExternalReference id="77438">
+                <Source>SwissProt</Source>
+                <Reference>Q13255</Reference>
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+            <LocusList count="1">
+              <Locus id="22495">
+                <GeneLocus>6q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="31585">
+      <OrphaCode>631088</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631088</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 87</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>35718349[PMID]</SourceOfValidation>
+          <Gene id="31587">
+            <Name lang="en">transmembrane protein 63C</Name>
+            <Symbol>TMEM63C</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="209009">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000165548</Reference>
+              </ExternalReference>
+              <ExternalReference id="209010">
+                <Source>OMIM</Source>
+                <Reference>619953</Reference>
+              </ExternalReference>
+              <ExternalReference id="209011">
+                <Source>SwissProt</Source>
+                <Reference>Q9P1W3</Reference>
+              </ExternalReference>
+              <ExternalReference id="208723">
+                <Source>HGNC</Source>
+                <Reference>23787</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
+              <Locus id="88735">
+                <GeneLocus>14q24.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="31584">
+      <OrphaCode>631085</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631085</ExpertLink>
+      <Name lang="en">Autosomal recessive spastic paraplegia type 86</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34489854[PMID]</SourceOfValidation>
+          <Gene id="31586">
+            <Name lang="en">abhydrolase domain containing 16A, phospholipase</Name>
+            <Symbol>ABHD16A</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="4">
+              <ExternalReference id="209012">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000204427</Reference>
+              </ExternalReference>
+              <ExternalReference id="208721">
+                <Source>HGNC</Source>
+                <Reference>13921</Reference>
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+              <ExternalReference id="209013">
+                <Source>OMIM</Source>
+                <Reference>142620</Reference>
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+              <ExternalReference id="209014">
+                <Source>SwissProt</Source>
+                <Reference>O95870</Reference>
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+            <LocusList count="1">
+              <Locus id="88741">
+                <GeneLocus>6p21.33</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="31592">
+      <OrphaCode>631248</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=631248</ExpertLink>
+      <Name lang="en">Mitchell Syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32169171[PMID]</SourceOfValidation>
+          <Gene id="15072">
+            <Name lang="en">acyl-CoA oxidase 1</Name>
+            <Symbol>ACOX1</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">PALMCOX</Synonym>
+              <Synonym lang="en">palmitoyl-CoA oxidase</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="57385">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000161533</Reference>
+              </ExternalReference>
+              <ExternalReference id="24770">
+                <Source>Genatlas</Source>
+                <Reference>ACOX1</Reference>
+              </ExternalReference>
+              <ExternalReference id="24768">
+                <Source>HGNC</Source>
+                <Reference>119</Reference>
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+              <ExternalReference id="24767">
+                <Source>OMIM</Source>
+                <Reference>609751</Reference>
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+              <ExternalReference id="57386">
+                <Source>Reactome</Source>
+                <Reference>Q15067</Reference>
+              </ExternalReference>
+              <ExternalReference id="32350">
+                <Source>SwissProt</Source>
+                <Reference>Q15067</Reference>
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+            <LocusList count="1">
+              <Locus id="6717">
+                <GeneLocus>17q25.1</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="31662">
+      <OrphaCode>633021</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=633021</ExpertLink>
+      <Name lang="en">SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34797034[PMID]</SourceOfValidation>
+          <Gene id="28475">
+            <Name lang="en">solute carrier family 12 member 2</Name>
+            <Symbol>SLC12A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BSC2</Synonym>
+              <Synonym lang="en">NKCC1</Synonym>
+              <Synonym lang="en">PPP1R141</Synonym>
+              <Synonym lang="en">basolateral Na-K-Cl symporter</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 141</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="6">
+              <ExternalReference id="172257">
+                <Source>HGNC</Source>
+                <Reference>10911</Reference>
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+              <ExternalReference id="172258">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064651</Reference>
+              </ExternalReference>
+              <ExternalReference id="172259">
+                <Source>SwissProt</Source>
+                <Reference>P55011</Reference>
+              </ExternalReference>
+              <ExternalReference id="172260">
+                <Source>Reactome</Source>
+                <Reference>P55011</Reference>
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+              <ExternalReference id="172261">
+                <Source>IUPHAR</Source>
+                <Reference>969</Reference>
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+              <ExternalReference id="172262">
+                <Source>OMIM</Source>
+                <Reference>600840</Reference>
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+              <Locus id="52701">
+                <GeneLocus>5q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+    <Disorder id="31663">
+      <OrphaCode>633024</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=633024</ExpertLink>
+      <Name lang="en">SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome</Name>
+      <DisorderType id="21450">
+        <Name lang="en">Clinical subtype</Name>
+      </DisorderType>
+      <DisorderGroup id="36554">
+        <Name lang="en">Subtype of disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
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+          <SourceOfValidation>32658972[PMID]</SourceOfValidation>
+          <Gene id="28475">
+            <Name lang="en">solute carrier family 12 member 2</Name>
+            <Symbol>SLC12A2</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">BSC2</Synonym>
+              <Synonym lang="en">NKCC1</Synonym>
+              <Synonym lang="en">PPP1R141</Synonym>
+              <Synonym lang="en">basolateral Na-K-Cl symporter</Synonym>
+              <Synonym lang="en">protein phosphatase 1, regulatory subunit 141</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="172257">
+                <Source>HGNC</Source>
+                <Reference>10911</Reference>
+              </ExternalReference>
+              <ExternalReference id="172258">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000064651</Reference>
+              </ExternalReference>
+              <ExternalReference id="172259">
+                <Source>SwissProt</Source>
+                <Reference>P55011</Reference>
+              </ExternalReference>
+              <ExternalReference id="172260">
+                <Source>Reactome</Source>
+                <Reference>P55011</Reference>
+              </ExternalReference>
+              <ExternalReference id="172261">
+                <Source>IUPHAR</Source>
+                <Reference>969</Reference>
+              </ExternalReference>
+              <ExternalReference id="172262">
+                <Source>OMIM</Source>
+                <Reference>600840</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>5q23.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="31660">
+      <OrphaCode>633004</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=633004</ExpertLink>
+      <Name lang="en">KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30929739[PMID]</SourceOfValidation>
+          <Gene id="29963">
+            <Name lang="en">lysine demethylase 3B</Name>
+            <Symbol>KDM3B</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">KIAA1082</Synonym>
+              <Synonym lang="en">NET22</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="193162">
+                <Source>OMIM</Source>
+                <Reference>609373</Reference>
+              </ExternalReference>
+              <ExternalReference id="189527">
+                <Source>HGNC</Source>
+                <Reference>1337</Reference>
+              </ExternalReference>
+              <ExternalReference id="201475">
+                <Source>SwissProt</Source>
+                <Reference>Q7LBC6</Reference>
+              </ExternalReference>
+              <ExternalReference id="193163">
+                <Source>IUPHAR</Source>
+                <Reference>2674</Reference>
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+              <ExternalReference id="193161">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000120733</Reference>
+              </ExternalReference>
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+                <GeneLocus>5q31.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+    <Disorder id="31665">
+      <OrphaCode>633035</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=633035</ExpertLink>
+      <Name lang="en">Intellectual disability-early-onset cataract-microcephaly syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>33632302[PMID]</SourceOfValidation>
+          <Gene id="31677">
+            <Name lang="en">COPI coat complex subunit beta 1</Name>
+            <Symbol>COPB1</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+            <ExternalReferenceList count="1">
+              <ExternalReference id="209637">
+                <Source>HGNC</Source>
+                <Reference>2231</Reference>
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+          </Gene>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
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+    <Disorder id="31664">
+      <OrphaCode>633028</OrphaCode>
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+      <Name lang="en">CPE-related Prader-Willi-like syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>34383079[PMID]</SourceOfValidation>
+          <Gene id="31678">
+            <Name lang="en">carboxypeptidase E</Name>
+            <Symbol>CPE</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="1">
+              <ExternalReference id="209639">
+                <Source>HGNC</Source>
+                <Reference>2303</Reference>
+              </ExternalReference>
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+            <LocusList count="1">
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+                <GeneLocus>4q32.3</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
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+    <Disorder id="31449">
+      <OrphaCode>621758</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=621758</ExpertLink>
+      <Name lang="en">Fibrosis-neurodegeneration-cerebral angiomatosis syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30138417[PMID]_30239752[PMID]</SourceOfValidation>
+          <Gene id="31450">
+            <Name lang="en">NHL repeat containing 2</Name>
+            <Symbol>NHLRC2</Symbol>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+              <ExternalReference id="205787">
+                <Source>HGNC</Source>
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+              <ExternalReference id="207675">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196865</Reference>
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+              <ExternalReference id="207676">
+                <Source>OMIM</Source>
+                <Reference>618277</Reference>
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+              <ExternalReference id="207677">
+                <Source>SwissProt</Source>
+                <Reference>Q8NBF2</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">mitochondrially encoded tRNA-Phe (UUU/C)</Name>
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+              <Synonym lang="en">trnF</Synonym>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Reference>ENSG00000210049</Reference>
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+                <Reference>MT-TF</Reference>
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+                <Source>HGNC</Source>
+                <Reference>7481</Reference>
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+                <Reference>590070</Reference>
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+        <DisorderGeneAssociation>
+          <SourceOfValidation>34607911[PMID]</SourceOfValidation>
+          <Gene id="17472">
+            <Name lang="en">mitochondrially encoded tRNA-Ile (AUU/C)</Name>
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+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000210100</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">EGF-related primary hypomagnesemia with intellectual disability</Name>
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+          <Gene id="18428">
+            <Name lang="en">epidermal growth factor</Name>
+            <Symbol>EGF</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">Pro-epidermal growth factor</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
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+                <Source>Genatlas</Source>
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+                <Source>Reactome</Source>
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+                <Source>SwissProt</Source>
+                <Reference>P01133</Reference>
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+      <Name lang="en">Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome</Name>
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+        <Name lang="en">Disorder</Name>
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+            <Name lang="en">cyclin and CBS domain divalent metal cation transport mediator 2</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000148842</Reference>
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+                <Source>OMIM</Source>
+                <Reference>607803</Reference>
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+              <ExternalReference id="71555">
+                <Source>SwissProt</Source>
+                <Reference>Q9H8M5</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9H8M5</Reference>
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+      <Name lang="en">Bartter syndrome type 2</Name>
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+            <Name lang="en">potassium inwardly rectifying channel subfamily J member 1</Name>
+            <Symbol>KCNJ1</Symbol>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000151704</Reference>
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+                <Source>Genatlas</Source>
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+                <Source>HGNC</Source>
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+                <Source>IUPHAR</Source>
+                <Reference>429</Reference>
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+                <Source>Reactome</Source>
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+      <Name lang="en">Non-syndromic non-specific multisutural craniosynostosis</Name>
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+        <Name lang="en">Disorder</Name>
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+              <Synonym lang="en">FLJ22688</Synonym>
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+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000010361</Reference>
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+                <Reference>FUZ</Reference>
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+                <Reference>26219</Reference>
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+                <Source>OMIM</Source>
+                <Reference>610622</Reference>
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+                <Source>Reactome</Source>
+                <Reference>Q9BT04</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q9BT04</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <Name lang="en">MIR140-related spondyloepiphyseal dysplasia</Name>
+      <DisorderType id="21401">
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+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>30804514[PMID]</SourceOfValidation>
+          <Gene id="28646">
+            <Name lang="en">microRNA 140</Name>
+            <Symbol>MIR140</Symbol>
+            <SynonymList count="1">
+              <Synonym lang="en">hsa-mir-140</Synonym>
+            </SynonymList>
+            <GeneType id="26046">
+              <Name lang="en">Non-coding RNA</Name>
+            </GeneType>
+            <ExternalReferenceList count="3">
+              <ExternalReference id="179000">
+                <Source>HGNC</Source>
+                <Reference>31527</Reference>
+              </ExternalReference>
+              <ExternalReference id="179001">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000208017</Reference>
+              </ExternalReference>
+              <ExternalReference id="179002">
+                <Source>OMIM</Source>
+                <Reference>611894</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="53655">
+                <GeneLocus>16q22.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31460">
+      <OrphaCode>622925</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=622925</ExpertLink>
+      <Name lang="en">X-linked severe syndromic thoracic aortic aneurysm and dissection</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27632686[PMID]</SourceOfValidation>
+          <Gene id="23903">
+            <Name lang="en">biglycan</Name>
+            <Symbol>BGN</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">DSPG1</Synonym>
+              <Synonym lang="en">SLRR1A</Synonym>
+              <Synonym lang="en">biglycan proteoglycan</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="103959">
+                <Source>HGNC</Source>
+                <Reference>1044</Reference>
+              </ExternalReference>
+              <ExternalReference id="103960">
+                <Source>OMIM</Source>
+                <Reference>301870</Reference>
+              </ExternalReference>
+              <ExternalReference id="103961">
+                <Source>Genatlas</Source>
+                <Reference>BGN</Reference>
+              </ExternalReference>
+              <ExternalReference id="103962">
+                <Source>SwissProt</Source>
+                <Reference>P21810</Reference>
+              </ExternalReference>
+              <ExternalReference id="103963">
+                <Source>Reactome</Source>
+                <Reference>P21810</Reference>
+              </ExternalReference>
+              <ExternalReference id="103964">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000182492</Reference>
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+            <LocusList count="1">
+              <Locus id="20317">
+                <GeneLocus>Xq28</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31461">
+      <OrphaCode>622934</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=622934</ExpertLink>
+      <Name lang="en">SBDS-related severe neonatal spondylometaphyseal dysplasia</Name>
+      <DisorderType id="21401">
+        <Name lang="en">Malformation syndrome</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31633310[PMID]</SourceOfValidation>
+          <Gene id="15247">
+            <Name lang="en">SBDS ribosome maturation factor</Name>
+            <Symbol>SBDS</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">CGI-97</Synonym>
+              <Synonym lang="en">FLJ10917</Synonym>
+              <Synonym lang="en">SDO1</Synonym>
+              <Synonym lang="en">SDS</Synonym>
+              <Synonym lang="en">SWDS</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="58747">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000126524</Reference>
+              </ExternalReference>
+              <ExternalReference id="25605">
+                <Source>Genatlas</Source>
+                <Reference>SBDS</Reference>
+              </ExternalReference>
+              <ExternalReference id="25603">
+                <Source>HGNC</Source>
+                <Reference>19440</Reference>
+              </ExternalReference>
+              <ExternalReference id="25602">
+                <Source>OMIM</Source>
+                <Reference>607444</Reference>
+              </ExternalReference>
+              <ExternalReference id="33805">
+                <Source>SwissProt</Source>
+                <Reference>Q9Y3A5</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="22627">
+                <GeneLocus>7q11.21</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31372">
+      <OrphaCode>617919</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=617919</ExpertLink>
+      <Name lang="en">F12-associated cold autoinflammatory syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31924766[PMID]</SourceOfValidation>
+          <Gene id="16010">
+            <Name lang="en">coagulation factor XII</Name>
+            <Symbol>F12</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="7">
+              <ExternalReference id="57717">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000131187</Reference>
+              </ExternalReference>
+              <ExternalReference id="29257">
+                <Source>Genatlas</Source>
+                <Reference>F12</Reference>
+              </ExternalReference>
+              <ExternalReference id="29255">
+                <Source>HGNC</Source>
+                <Reference>3530</Reference>
+              </ExternalReference>
+              <ExternalReference id="82908">
+                <Source>IUPHAR</Source>
+                <Reference>2361</Reference>
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+              <ExternalReference id="29254">
+                <Source>OMIM</Source>
+                <Reference>610619</Reference>
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+              <ExternalReference id="57718">
+                <Source>Reactome</Source>
+                <Reference>P00748</Reference>
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+              <ExternalReference id="33024">
+                <Source>SwissProt</Source>
+                <Reference>P00748</Reference>
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+            <LocusList count="1">
+              <Locus id="8467">
+                <GeneLocus>5q35.3</GeneLocus>
+                <LocusKey>1</LocusKey>
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+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
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+      </DisorderGeneAssociationList>
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+    <Disorder id="31417">
+      <OrphaCode>619941</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619941</ExpertLink>
+      <Name lang="en">Immune deficiency due to impaired neutrophil phagocytosis and migration</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>32128589[PMID]</SourceOfValidation>
+          <Gene id="22989">
+            <Name lang="en">myocardin related transcription factor A</Name>
+            <Symbol>MRTFA</Symbol>
+            <SynonymList count="8">
+              <Synonym lang="en">BSAC</Synonym>
+              <Synonym lang="en">KIAA1438</Synonym>
+              <Synonym lang="en">MAL</Synonym>
+              <Synonym lang="en">MKL</Synonym>
+              <Synonym lang="en">MRTF-A</Synonym>
+              <Synonym lang="en">basic, SAP and coiled-coil domain</Synonym>
+              <Synonym lang="en">megakaryocytic acute leukemia</Synonym>
+              <Synonym lang="en">myocardin-related transcription factor A</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="94619">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000196588</Reference>
+              </ExternalReference>
+              <ExternalReference id="91943">
+                <Source>Genatlas</Source>
+                <Reference>MKL1</Reference>
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+              <ExternalReference id="91941">
+                <Source>HGNC</Source>
+                <Reference>14334</Reference>
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+              <ExternalReference id="91942">
+                <Source>OMIM</Source>
+                <Reference>606078</Reference>
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+              <ExternalReference id="97023">
+                <Source>Reactome</Source>
+                <Reference>Q969V6</Reference>
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+              <ExternalReference id="91944">
+                <Source>SwissProt</Source>
+                <Reference>Q969V6</Reference>
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+            <LocusList count="1">
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+                <GeneLocus>22q13.1-q13.2</GeneLocus>
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+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="31416">
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+      <Name lang="en">SAMD9L-associated autoinflammatory syndrome</Name>
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+        <Name lang="en">Disease</Name>
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+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31874111[PMID]</SourceOfValidation>
+          <Gene id="23881">
+            <Name lang="en">sterile alpha motif domain containing 9 like</Name>
+            <Symbol>SAMD9L</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">FLJ39885</Synonym>
+              <Synonym lang="en">KIAA2005</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="103838">
+                <Source>HGNC</Source>
+                <Reference>1349</Reference>
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+              <ExternalReference id="103839">
+                <Source>OMIM</Source>
+                <Reference>611170</Reference>
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+              <ExternalReference id="103840">
+                <Source>Genatlas</Source>
+                <Reference>SAMD9L</Reference>
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+              <ExternalReference id="103841">
+                <Source>SwissProt</Source>
+                <Reference>Q8IVG5</Reference>
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+              <ExternalReference id="103842">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000177409</Reference>
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+                <GeneLocus>7q21.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+            <Name lang="en">Assessed</Name>
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+      <OrphaCode>619953</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619953</ExpertLink>
+      <Name lang="en">Familial hyperinflammatory lymphoproliferative immunodeficiency</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>32766723[PMID]</SourceOfValidation>
+          <Gene id="29656">
+            <Name lang="en">NCK associated protein 1 like</Name>
+            <Symbol>NCKAP1L</Symbol>
+            <SynonymList count="0">
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000123338</Reference>
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+                <Source>OMIM</Source>
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+                <Source>Reactome</Source>
+                <Reference>P55160</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>P55160</Reference>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
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+      <OrphaCode>619948</OrphaCode>
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+      <Name lang="en">Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+          <SourceOfValidation>32853638[PMID]</SourceOfValidation>
+          <Gene id="26751">
+            <Name lang="en">suppressor of cytokine signaling 1</Name>
+            <Symbol>SOCS1</Symbol>
+            <SynonymList count="5">
+              <Synonym lang="en">Cish1</Synonym>
+              <Synonym lang="en">JAB</Synonym>
+              <Synonym lang="en">SOCS-1</Synonym>
+              <Synonym lang="en">SSI-1</Synonym>
+              <Synonym lang="en">TIP3</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>603597</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>O15524</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000185338</Reference>
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+                <Source>Genatlas</Source>
+                <Reference>SOCS1</Reference>
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+      <OrphaCode>619979</OrphaCode>
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+      <Name lang="en">Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
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+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31953710[PMID]</SourceOfValidation>
+          <Gene id="26698">
+            <Name lang="en">NFE2 like bZIP transcription factor 2</Name>
+            <Symbol>NFE2L2</Symbol>
+            <SynonymList count="2">
+              <Synonym lang="en">NF-E2-related factor 2</Synonym>
+              <Synonym lang="en">NRF2</Synonym>
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+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
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+                <Reference>7782</Reference>
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+                <Source>SwissProt</Source>
+                <Reference>Q16236</Reference>
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+                <Source>Ensembl</Source>
+                <Reference>ENSG00000116044</Reference>
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+                <Reference>3057</Reference>
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+              <ExternalReference id="156778">
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+                <Reference>NFE2L2</Reference>
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+                <GeneLocus>2q31.2</GeneLocus>
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+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
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+    <Disorder id="31422">
+      <OrphaCode>619972</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619972</ExpertLink>
+      <Name lang="en">CADINS disease</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
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+          <SourceOfValidation>31953710[PMID]</SourceOfValidation>
+          <Gene id="22042">
+            <Name lang="en">caspase recruitment domain family member 11</Name>
+            <Symbol>CARD11</Symbol>
+            <SynonymList count="4">
+              <Synonym lang="en">BIMP3</Synonym>
+              <Synonym lang="en">CARMA1</Synonym>
+              <Synonym lang="en">bcl10-interacting maguk protein 3</Synonym>
+              <Synonym lang="en">card-maguk protein 1</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
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+              <ExternalReference id="83801">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000198286</Reference>
+              </ExternalReference>
+              <ExternalReference id="79110">
+                <Source>Genatlas</Source>
+                <Reference>CARD11</Reference>
+              </ExternalReference>
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+                <Source>HGNC</Source>
+                <Reference>16393</Reference>
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+                <Reference>607210</Reference>
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+              <ExternalReference id="83800">
+                <Source>Reactome</Source>
+                <Reference>Q9BXL7</Reference>
+              </ExternalReference>
+              <ExternalReference id="79111">
+                <Source>SwissProt</Source>
+                <Reference>Q9BXL7</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="25407">
+                <GeneLocus>7p22.2</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="25972">
+            <Name lang="en">Disease-causing germline mutation(s) (loss of function) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31415">
+      <OrphaCode>619363</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619363</ExpertLink>
+      <Name lang="en">Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>31271789[PMID]</SourceOfValidation>
+          <Gene id="24399">
+            <Name lang="en">cell division cycle 42</Name>
+            <Symbol>CDC42</Symbol>
+            <SynonymList count="3">
+              <Synonym lang="en">CDC42Hs</Synonym>
+              <Synonym lang="en">G25K</Synonym>
+              <Synonym lang="en">GTP binding protein, 25kDa</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="6">
+              <ExternalReference id="131216">
+                <Source>HGNC</Source>
+                <Reference>1736</Reference>
+              </ExternalReference>
+              <ExternalReference id="144266">
+                <Source>Genatlas</Source>
+                <Reference>CDC42</Reference>
+              </ExternalReference>
+              <ExternalReference id="134210">
+                <Source>Reactome</Source>
+                <Reference>P60953</Reference>
+              </ExternalReference>
+              <ExternalReference id="131963">
+                <Source>OMIM</Source>
+                <Reference>116952</Reference>
+              </ExternalReference>
+              <ExternalReference id="132675">
+                <Source>SwissProt</Source>
+                <Reference>P60953</Reference>
+              </ExternalReference>
+              <ExternalReference id="133985">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000070831</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="39973">
+                <GeneLocus>1p36.12</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+    <Disorder id="31405">
+      <OrphaCode>619233</OrphaCode>
+      <ExpertLink lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=619233</ExpertLink>
+      <Name lang="en">Hereditary persistence of fetal hemoglobin-intellectual disability syndrome</Name>
+      <DisorderType id="21394">
+        <Name lang="en">Disease</Name>
+      </DisorderType>
+      <DisorderGroup id="36547">
+        <Name lang="en">Disorder</Name>
+      </DisorderGroup>
+      <DisorderGeneAssociationList count="1">
+        <DisorderGeneAssociation>
+          <SourceOfValidation>27453576[PMID]</SourceOfValidation>
+          <Gene id="16861">
+            <Name lang="en">BAF chromatin remodeling complex subunit BCL11A</Name>
+            <Symbol>BCL11A</Symbol>
+            <SynonymList count="7">
+              <Synonym lang="en">BCL11A-L</Synonym>
+              <Synonym lang="en">BCL11A-S</Synonym>
+              <Synonym lang="en">BCL11A-XL</Synonym>
+              <Synonym lang="en">CTIP1</Synonym>
+              <Synonym lang="en">HBFQTL5</Synonym>
+              <Synonym lang="en">SMARCM1</Synonym>
+              <Synonym lang="en">ZNF856</Synonym>
+            </SynonymList>
+            <GeneType id="25993">
+              <Name lang="en">gene with protein product</Name>
+            </GeneType>
+            <ExternalReferenceList count="5">
+              <ExternalReference id="59075">
+                <Source>Ensembl</Source>
+                <Reference>ENSG00000119866</Reference>
+              </ExternalReference>
+              <ExternalReference id="35262">
+                <Source>Genatlas</Source>
+                <Reference>BCL11A</Reference>
+              </ExternalReference>
+              <ExternalReference id="35264">
+                <Source>HGNC</Source>
+                <Reference>13221</Reference>
+              </ExternalReference>
+              <ExternalReference id="35263">
+                <Source>OMIM</Source>
+                <Reference>606557</Reference>
+              </ExternalReference>
+              <ExternalReference id="35261">
+                <Source>SwissProt</Source>
+                <Reference>Q9H165</Reference>
+              </ExternalReference>
+            </ExternalReferenceList>
+            <LocusList count="1">
+              <Locus id="9801">
+                <GeneLocus>2p16.1</GeneLocus>
+                <LocusKey>1</LocusKey>
+              </Locus>
+            </LocusList>
+          </Gene>
+          <DisorderGeneAssociationType id="17949">
+            <Name lang="en">Disease-causing germline mutation(s) in</Name>
+          </DisorderGeneAssociationType>
+          <DisorderGeneAssociationStatus id="17991">
+            <Name lang="en">Assessed</Name>
+          </DisorderGeneAssociationStatus>
+        </DisorderGeneAssociation>
+      </DisorderGeneAssociationList>
+    </Disorder>
+  </DisorderList>
+</JDBOR>
diff --git a/config/OrphaNet/templates/gene-to-raredisease.json b/config/OrphaNet/templates/gene-to-raredisease.json
new file mode 100644
index 0000000..3f68857
--- /dev/null
+++ b/config/OrphaNet/templates/gene-to-raredisease.json
@@ -0,0 +1,26 @@
+{
+  "message": {
+    "query_graph": {
+      "nodes": {
+        "Disease_Curie": {
+          "categories": [
+            "biolink:DiseaseOrPhenotypicFeature"
+          ]
+
+        },
+        "Gene_Curie": {
+          "ids": [],
+          "categories": [
+            "biolink:Gene"
+          ]
+        }
+      },
+      "edges": {
+        "e01": {
+          "object": "Gene_Curie",
+          "subject": "Disease_Curie"
+        }
+      }
+    }
+  }
+}
diff --git a/config/OrphaNet/templates/raredisease-to-gene.json b/config/OrphaNet/templates/raredisease-to-gene.json
new file mode 100644
index 0000000..8c235b6
--- /dev/null
+++ b/config/OrphaNet/templates/raredisease-to-gene.json
@@ -0,0 +1,26 @@
+{
+  "message": {
+    "query_graph": {
+      "nodes": {
+        "Disease_Curie": {
+          "ids": [],
+          "categories": [
+            "biolink:DiseaseOrPhenotypicFeature"
+          ]
+
+        },
+        "Gene_Curie": {
+          "categories": [
+            "biolink:Gene"
+          ]
+        }
+      },
+      "edges": {
+        "e01": {
+          "object": "Gene_Curie",
+          "subject": "Disease_Curie"
+        }
+      }
+    }
+  }
+}
diff --git a/config/benchmarks.json b/config/benchmarks.json
index 2d08912..89f1290 100644
--- a/config/benchmarks.json
+++ b/config/benchmarks.json
@@ -16,5 +16,14 @@
             "source": "DrugMechDB",
             "templates": ["three_hop"]
         }
+    ],
+    "orphadata": [
+        {
+            "source": "OrphaNet",
+            "templates": [
+                "raredisease-to-gene",
+                "gene-to-raredisease"
+            ]
+        }
     ]
-}
\ No newline at end of file
+}
diff --git a/requirements.txt b/requirements.txt
index a094f95..2342920 100644
--- a/requirements.txt
+++ b/requirements.txt
@@ -3,3 +3,4 @@ matplotlib
 numpy
 requests
 tqdm
+xmltodict
diff --git a/setup.py b/setup.py
index 1f0c989..9b500ab 100644
--- a/setup.py
+++ b/setup.py
@@ -9,7 +9,8 @@
         'matplotlib',
         'numpy',
         'requests',
-        'tqdm'
+        'tqdm',
+        'xmltodict'
     ],
     entry_points={
         'console_scripts': [